9606:GJD3
gene id: 9606:GJD3
uniprot id: A0A654IC68
uniprot id: Q8N144
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A connexon is composed of a hexamer of connexins (By similarity). Interacts with TJP1.
messages: A connexon is composed of a hexamer of connexins.
messages: Belongs to the connexin family.
messages: Belongs to the connexin family. Delta-type subfamily.
messages: Cell membrane
messages: Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis.
messages: Membrane
messages: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
messages: gap junction

9606:FMNL1
gene id: 9606:FMNL1
uniprot id: O95466
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the formin homology family.
messages: Cell membrane
messages: Cytoplasm
messages: Due to intron retention. Constitutively activated form, probably due to alterations in the DAD domain.
messages: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
messages: Interacts with RAC1, PFN1 and PFN2 (By similarity). Interacts (activated by RAC1) with SRGAP2 (via SH3 domain); regulates the actin filament severing activity of FMNL1.
messages: May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape.
messages: Myristoylation mediates membrane localization and blebbing.
messages: The DAD domain regulates activation via by an autoinhibitory interaction with the N-terminus. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
messages: bleb
messages: cell cortex
messages: phagosome

9606:ZFP1
gene id: 9606:ZFP1
uniprot id: Q6P2D0
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:CRELD1
gene id: 9606:CRELD1
uniprot id: A0A024R2G1
uniprot id: A0A804HJJ0
uniprot id: Q96HD1
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CRELD family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity).
messages: Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and thapsigargin.

9606:HDLBP
gene id: 9606:HDLBP
uniprot id: Q00341
names: Function
names: Subcellular Location Annotation
messages: Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol.
messages: Cytoplasm
messages: Nucleus

9606:CD300C
gene id: 9606:CD300C
uniprot id: Q08708
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CD300 family.
messages: Cell membrane
messages: Present on the surface of monocytes, neutrophils, a proportion of peripheral blood T- and B-lymphocytes and lymphocytic cell lines.

9606:SOWAHD
gene id: 9606:SOWAHD
uniprot id: A6NJG2
names: Similarity
messages: Belongs to the SOWAH family.

9606:CKMT2
gene id: 9606:CKMT2
uniprot id: A0A024RAK5
uniprot id: P17540
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ATP:guanido phosphotransferase family.
messages: Exists as an octamer composed of four CKMT2 homodimers.
messages: Mitochondrial creatine kinase binds cardiolipin.
messages: Mitochondrion inner membrane
messages: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.
messages: Sarcomere-specific. Found only in heart and skeletal muscles.

9606:ZNF613
gene id: 9606:ZNF613
uniprot id: Q6PF04
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:MLC1
gene id: 9606:MLC1
uniprot id: Q15049
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Endoplasmic reticulum
messages: Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus.
messages: Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM.
messages: Membrane
messages: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: perinuclear region

9606:ZNF555
gene id: 9606:ZNF555
uniprot id: Q8NEP9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:KCNMA1
gene id: 9606:KCNMA1
uniprot id: A0A1W2PP94
uniprot id: A0A1W2PPY5
uniprot id: A0A1W2PQK5
uniprot id: A0A1W2PQU4
uniprot id: A0A1W2PR56
uniprot id: A0A1W2PR62
uniprot id: A0A1W2PRN5
uniprot id: A0A1W2PSD3
uniprot id: B7ZMF5
uniprot id: D5MRH1
uniprot id: Q12791
uniprot id: Q59FH2
uniprot id: Q5SVJ7
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa1.1/KCNMA1 sub-subfamily.
messages: Cell membrane
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Ethanol and carbon monoxide-bound heme increase channel activation. Heme inhibits channel activation.
messages: Homotetramer; which constitutes the calcium-activated potassium channel. Interacts with RAB11B (By similarity). Interacts with beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4. Interacts with gamma subunits LRRC26, LRRC38, LRRC52 and LRRC55. Beta and gamma subunits are accessory, and modulate its activity.
messages: Membrane
messages: Palmitoylation by ZDHHC22 and ZDHHC23 within the intracellular linker between the S0 and S1 transmembrane domains regulates localization to the plasma membrane. Depalmitoylated by LYPLA1 and LYPLAL1, leading to retard exit from the trans-Golgi network.
messages: Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles, phosphorylation affects its activity.
messages: Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+) (PubMed:29330545, PubMed:31152168). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX).
messages: The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers into functional potassium channel. It includes binding sites for Ca(2+) and Mg(2+) (By similarity).
messages: The S0 segment is essential for the modulation by the accessory beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4.
messages: The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor.
messages: The calcium bowl constitutes one of the Ca(2+) sensors and probably acts as a Ca(2+)-binding site. There are however other Ca(2+) sensors regions required for activation of the channel.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The heme-binding motif mediates inhibition of channel activation by heme. Carbon monoxide-bound heme leads to increased channel activation.
messages: The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the selectivity filter of the pore. It contains the signature sequence of potassium channels that displays selectivity to potassium.
messages: The protein was initially thought to contain two functionally distinct parts: The core channel (from the N-terminus to the S9 segment) that mediates the channel activity, and the cytoplasmic tail (from the S9 segment to the C-terminus) that mediates the calcium sensing. The situation is however more complex, since the core channel also contains binding sites for Ca(2+) and Mg(2+).
messages: Widely expressed. Except in myocytes, it is almost ubiquitously expressed.

9606:ZG16
gene id: 9606:ZG16
uniprot id: O60844
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the jacalin lectin family.
messages: Golgi apparatus lumen
messages: Highly expressed in liver. Detected at lower levels in colon, ileum and jejunum.
messages: May play a role in protein trafficking. May act as a linker molecule between the submembranous matrix on the luminal side of zymogen granule membrane (ZGM) and aggregated secretory proteins during granule formation in the TGN.
messages: Zymogen granule lumen
messages: extracellular matrix

9606:APRT
gene id: 9606:APRT
uniprot id: P07741
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the purine/pyrimidine phosphoribosyltransferase family.
messages: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
messages: Cytoplasm
messages: Homodimer.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CXCL17
gene id: 9606:CXCL17
uniprot id: Q6UXB2
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the intercrine alpha (chemokine CxC) family.
messages: Chemokine that acts as chemoattractant for monocytes, macrophages and dendritic cells (PubMed:16455961, PubMed:23115081). Plays a role in angiogenesis and possibly in the development of tumors (PubMed:16989774, PubMed:23115081). Acts as an anti-inflammatory in the stomach (PubMed:23115081). May play a role in the innate defense against infections (PubMed:17307946). Activates the C-X-C chemokine receptor GPR35 to induce a rapid and transient rise in the level of intracellular calcium ions (PubMed:25411203).
messages: Detected in fetal lung.
messages: Detected in trachea, stomach, lung and skeletal muscle. Detected in intestine and in normal and asthmatic lung (at protein level). Breast tumors showed 3- to 24-fold up-regulation.
messages: Found to be up-regulated in duodenal mucosa during acute cholera.
messages: Likely to undergo an endoproteolytic process to form a four-cysteine-containing mature peptide with a canonical CXC chemokine scaffold after secretion.
messages: Secreted
messages: Seems to exhibit much higher chemoattractant potency on monocytes and macrophages than 6-Cys CXCL17.

9606:IFI6
gene id: 9606:IFI6
uniprot id: A0A348GSI1
uniprot id: P09912
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the IFI6/IFI27 family.
messages: Glycosylated.
messages: Interacts with CIB1; the interaction is direct.
messages: Membrane
messages: Mitochondrion inner membrane
messages: Plays a role in apoptosis, negatively regulating the intrinsinc apoptotic signaling pathway and TNFSF10-induced apoptosis (PubMed:15685448, PubMed:17823654, PubMed:26244642). However, it has also been shown to have a pro-apoptotic activity (PubMed:27673746). Has an antiviral activity towards hepatitis C virus/HCV by inhibiting the EGFR signaling pathway, which activation is required for entry of the virus into cells (PubMed:25757571).
messages: Up-regulated by type-I interferon (PubMed:14728724, PubMed:17823654). Up-regulated upon Dengue virus type 2/DENV2 infection (at protein level) (PubMed:26244642).

9606:SNCG
gene id: 9606:SNCG
uniprot id: F8W754
uniprot id: O76070
uniprot id: Q6FHG5
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the synuclein family.
messages: Highly expressed in brain, particularly in the substantia nigra. Also expressed in the corpus callosum, heart, skeletal muscle, ovary, testis, colon and spleen. Weak expression in pancreas, kidney and lung.
messages: May be a centrosome-associated protein. Interacts with MYOC; affects its secretion and its aggregation (By similarity).
messages: May be a centrosome-associated protein. Interacts with MYOC; affects its secretion and its aggregation.
messages: Phosphorylated. Phosphorylation by GRK5 appears to occur on residues distinct from the residue phosphorylated by other kinases.
messages: Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases (By similarity). May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway (By similarity).
messages: centrosome
messages: perinuclear region
messages: spindle

9606:AGR2
gene id: 9606:AGR2
uniprot id: O95994
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the AGR family.
messages: Endoplasmic reticulum
messages: Expressed strongly in trachea, lung, stomach, colon, prostate and small intestine. Expressed weakly in pituitary gland, salivary gland, mammary gland, bladder, appendix, ovary, fetal lung, uterus, pancreas, kidney, fetal kidney, testis, placenta, thyroid gland and in estrogen receptor (ER)-positive breast cancer cell lines.
messages: Monomer and homodimer (PubMed:23274113). Interacts with LYPD3 and DAG1 (alphaDAG1). Interacts with MUC2; disulfide-linked.
messages: Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells (By similarity). Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes cell adhesion (PubMed:23274113).
messages: Secreted

9606:ZYG11B
gene id: 9606:ZYG11B
uniprot id: Q9C0D3
names: Function
names: Similarity
names: Subunit
messages: Belongs to the zyg-11 family.
messages: Interacts with ELOC/Elongin C. Part of an E3 ubiquitin ligase complex including ZYG11B, CUL2 and Elongin BC.
messages: Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts redudantly with ZER1 to target substrates bearing N-terminal glycine degrons for proteasomal degradation (PubMed:33093214). Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation (PubMed:31273098).

9606:AIRE
gene id: 9606:AIRE
uniprot id: O43918
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Homodimer and homotetramer. Interacts with CREBBP. Interacts preferentially with histone H3 that is not methylated at 'Lys-4'. Binds with lower affinity to histone H3 that is monomethylated at 'Lys-4'. Trimethylation of histone H3 at 'Lys-4' or phosphorylation at 'Thr-3' abolish the interaction. Binds with lower affinity to histone H3 that is acetylated at 'Lys-4', or that is acetylated at 'Lys-9' or trimethylated at 'Lys-9'. Binds histone H3 that is dimethylated at 'Arg-2' with very low affinity.
messages: Interacts via the first PHD domain with the N-terminus of histone H3 that is not methylated at 'Lys-4'. Disruption of the first PHD domain has been shown to lead to reduced transcriptional activity and to localization of the protein mainly in the cytoplasm in small granules. While the PHD zinc fingers are necessary for the transactivation capacity of the protein, other regions also modulate this function.
messages: Nucleus
messages: Phosphorylated. Phosphorylation could trigger oligomerization.
messages: The HSR domain is required for localization on tubular structures (N-terminal part) and for homodimerization.
messages: The L-X-X-L-L repeats may be implicated in binding to nuclear receptors.
messages: The disease is caused by variants affecting the gene represented in this entry. Most of the mutations alter the nucleus-cytoplasm distribution of AIRE and disturb its association with nuclear dots and cytoplasmic filaments. Most of the mutations also decrease transactivation of the protein. The HSR domain is responsible for the homomultimerization activity of AIRE. All the missense mutations of the HSR and the SAND domains decrease this activity, but those in other domains do not. The AIRE protein is present in soluble high-molecular-weight complexes. Mutations in the HSR domain and deletion of PHD zinc fingers disturb the formation of these complexes (PubMed:14974083). Heterozygous mutations within the PHD1 domain have dominant-negative effects and cause organ-specific autoimmune diseases (PubMed:26084028). Patients harbor extremely high-affinity, neutralizing autoantibodies, particularly against specific cytokines such as type I interferons which could protect them from some types of autoimmune diseases, like type I diabetes (PubMed:27426947).
messages: Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity).
messages: Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. In secondary lymphoid organs, expressed in a discrete population of bone marrow-derived toleregenic antigen presenting cells (APCs) called extrathymic AIRE expressing cells (eTAC)(at protein level) (PubMed:23993652). Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all.

9606:POC1B-GALNT4
gene id: 9606:POC1B-GALNT4
uniprot id: F8VUJ3
uniprot id: Q8N4A0
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
messages: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates 'Thr-57' of SELPLG.
messages: Golgi apparatus membrane
messages: Membrane
messages: The ricin B-type lectin domain directs the glycopeptide specificity. It is required in the glycopeptide specificity of enzyme activity but not for activity with naked peptide substrates, suggesting that it triggers the catalytic domain to act on GalNAc-glycopeptide substrates.
messages: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
messages: Ubiquitous. Highly expressed in mucous cells.

9606:RCCD1
gene id: 9606:RCCD1
uniprot id: A6NED2
names: Caution
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Chromosome
messages: Found in a complex with KDM8 (PubMed:24981860). Interacts (via N-terminus) with KDM8 (via N-terminus)(PubMed:24981860, PubMed:28455245).
messages: Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with KDM8 (PubMed:24981860). Possibly together with KDM8, is involved in proper mitotic spindle organization and chromosome segregation (PubMed:24981860). Plays a role in regulating alpha-tubulin deacetylation and cytoskeletal microtubule stability, thereby promoting cell migration and TGF-beta-induced epithelial to mesenchymal transition (EMT), potentially through the inhibition of KDM8 (PubMed:28455245).
messages: Postulated to regulate KDM8 histone demethylase activity on di- and trimethylated 'Lys-36' (H3K36me2/me3) of histone H3 (PubMed:24981860). However the demethylase activity of JMJD5 is controversial, as it was later shown to rather act as an endopeptidase that cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4. In several studies, JMJD5 was shown not to display any demethylase activity toward methylated H3K36 nor toward other methyllysines in the N-terminal tails of H3 and H4 in vitro (PubMed:28982940).
messages: Specifically hydroxylated (with R stereochemistry) at C-3 of ARG-141 by KDM8.

9606:UTP20
gene id: 9606:UTP20
uniprot id: O75691
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the UTP20 family.
messages: Expressed in appendix, brain, colon, fetal liver, heart, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus.
messages: Interacts with FBL and PPP1R26.
messages: Involved in 18S pre-rRNA processing. Associates with U3 snoRNA.
messages: nucleolus

9606:GIPC2
gene id: 9606:GIPC2
uniprot id: A0A384P5H2
uniprot id: Q8TF65
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GIPC family.
messages: Cytoplasm
messages: Expressed at highest levels in ascending colon and at moderate levels in adult kidney. Expressed at low levels in adult pancreas and at very low levels in adult liver. Expression is down-regulated in several primary tumors, such as kidney, colon and rectal tumors.
messages: Probably interacts with SEMA5A.

9606:SAA1
gene id: 9606:SAA1
uniprot id: P0DJI8
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: At least 5 different SAA1 alleles have been described: SAA1.1 (SAA1alpha), SAA1.2 (SAA1beta), SAA1.3 (SAA1gamma), SAA1.4 (SAA1delta), SAA1.5 (also named SAA1beta but which differs from SAA1.2). We use here the revised nomenclature described in PubMed:10211414. The sequence shown is that of SAA1.1.
messages: Belongs to the SAA family.
messages: Elevated serum SAA1 protein levels may be associated with lung cancer.
messages: Expressed by the liver; secreted in plasma (at protein level).
messages: Homohexamer; dimer of trimers. Can form amyloid fibrils after partial proteolysis; the native, undenatured protein does not form amyloid fibrils (in vitro). Apolipoprotein of the HDL complex. Binds to heparin.
messages: Major acute phase protein.
messages: Reactive, secondary amyloidosis is characterized by the extracellular accumulation in various tissues of the SAA1 protein. These deposits are highly insoluble and resistant to proteolysis; they disrupt tissue structure and compromise function.
messages: Secreted
messages: This protein is the precursor of amyloid protein A, which is formed by the removal of approximately 24 residues from the C-terminal end.
messages: Upon cytokine stimulation.

9606:KCNK9
gene id: 9606:KCNK9
uniprot id: A0A024R9H3
uniprot id: Q9NPC2
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
messages: Cell membrane
messages: Homodimer (Probable). Heterodimer with KCNK1.
messages: Inhibited by phorbol 12-myristate 13-acetate (PMA). TASK-3 current is strongly decreased in the presence of an extracellular pH inferior to 7.0.
messages: Mainly found in the cerebellum. Also found in adrenal gland, kidney and lung.
messages: Membrane
messages: Overexpressed in a high proportion of breast cancers. May confer resistance to growth factor deprivation and hypoxia, thereby promoting tumor cell survival in poorly oxygenated areas of solid tumors.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: pH-dependent, voltage-insensitive, background potassium channel protein.

9606:CEACAM1
gene id: 9606:CEACAM1
uniprot id: P13688
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Basal cell membrane
messages: Belongs to the immunoglobulin superfamily. CEA family.
messages: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Plays a role as coinhibitory receptor in immune response, insulin action and functions also as an activator during angiogenesis (PubMed:18424730, PubMed:23696226, PubMed:25363763). Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils (PubMed:18424730, PubMed:23696226). Upon TCR/CD3 complex stimulation, inhibits TCR-mediated cytotoxicity by blocking granule exocytosis by mediating homophilic binding to adjacent cells, allowing interaction with and phosphorylation by LCK and interaction with the TCR/CD3 complex which recruits PTPN6 resulting in dephosphorylation of CD247 and ZAP70 (PubMed:18424730). Also inhibits T cell proliferation and cytokine production through inhibition of JNK cascade and plays a crucial role in regulating autoimmunity and anti-tumor immunity by inhibiting T cell through its interaction with HAVCR2 (PubMed:25363763). Upon natural killer (NK) cells activation, inhibit KLRK1-mediated cytolysis of CEACAM1-bearing tumor cells by trans-homophilic interactions with CEACAM1 on the target cell and lead to cis-interaction between CEACAM1 and KLRK1, allowing PTPN6 recruitment and then VAV1 dephosphorylation (PubMed:23696226). Upon neutrophils activation negatively regulates IL1B production by recruiting PTPN6 to a SYK-TLR4-CEACAM1 complex, that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, which in turn, reduces the activity of the inflammasome. Down-regulates neutrophil production by acting as a coinhibitory receptor for CSF3R by down-regulating the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Also regulates insulin acti…
messages: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Promotes populations of T cells regulating IgA production and secretion associated with control of the commensal microbiota and resistance to enteropathogens (By similarity).
messages: Cell junction
messages: Cell membrane
messages: Expressed in columnar epithelial cells of the colon (at protein level) (PubMed:10436421). The predominant forms expressed by T cells are those containing a long cytoplasmic domain (PubMed:18424730). Expressed in granulocytes and lymphocytes. Leukocytes only express isoforms 6 and isoform 1 (PubMed:11994468).
messages: Ig-like V-type domain mediates trans-homophilic cell adhesion through homodimerization and this active process is regulated by tyrosine kinase, PTPN11 and PTPN6. Ig-like C2-type and/or cytoplasmic domains mediate cis-dimer/oligomer.
messages: Induced in primary T cells by activation with IL-2.
messages: Lateral cell membrane
messages: Monomer. Oligomer. Heterodimer. Homodimer (PubMed:26483485). Cis-dimer/oligomer (via Ig-like C2-type and/or via cytoplasmic domains); induced by trans-homophilic cell adhesion through an allosteric mechanism transmitted by the Ig-like V-type domain, and is regulated by intracellular calcium and calmodulin. Interacts (via cytoplasmic domain) with calmodulin in a calcium dependent manner; reduces homophilic cell adhesion through dissociation of dimer (By similarity). Isoform 1 interacts (via cytoplasmic domain) with PTPN11 (preferentially) and PTPN6; cis-homodimer form is preferred; this interaction is decreased by formation of Isoform 1 /Isoform 8 cis-heterodimers and is dependent on the monomer/dimer equilibrium; this interaction is phosphorylation-dependent (PubMed:23696226). Isoform 1 interacts with LYN (By similarity). Isoform 1 interacts (via cytoplasmic domain) with SRC (via SH2 domain); this interaction is regulated by trans-homophilic cell adhesion (PubMed:7478590). Isoform 1 interacts (via cytoplasmic domain) with LCK; mediates phosphorylation at Tyr-493 and Tyr-520 resulting in PTPN6 association. Isoform 1 interacts with PTPN6; this interaction is phosphorylation-dependent and causes a profound decrease in TCR stimulation-induced CD247 and ZAP70 phosphorylation. Isoform 1 interacts with TCR/CD3 complex through TCR beta chain and CD3E; colocalizes at the cell surface and upon stimulation of the TCR/CD3 complex recruits PTPN6 in the TCR/CD3 complex, resulting in dephosphorylation of CD247 and ZAP70 (PubMed:18424730). Isoform 1 interacts (via cytoplasmic domain) with SHC1 (via SH2 domain); SHC1 mediates interaction with INSR or EGFR in a Ser-508 phosphorylation-dependent manner (By similarity). Isoform 1 interacts with EGFR; the interaction is indirect (PubMed:15467833). Isoform 1 interacts with CSF3R; down-regulates the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Isoform 1 (phosphorylated form) interacts with …
messages: Phosphorylated on serine and threonine.
messages: Phosphorylated on serine and tyrosine (By similarity). Isoform 1 is phosphorylated on tyrosine by Src family kinases like SRC and LCK and by receptor like CSF3R, EGFR and INSR upon stimulation (PubMed:15467833, PubMed:18424730, PubMed:7478590). Phosphorylated at Ser-508; mediates activity. Phosphorylated at Tyr-493; regulates activity (By similarity). Phosphorylated at Tyr-493 by EGFR and INSR upon stimulation; this phosphorylation is Ser-508-phosphorylation-dependent; mediates cellular internalization; increases interaction with downstream proteins like SHC1 and FASN (By similarity). Phosphorylated at Tyr-493 and Tyr-520 by LCK; mediates PTPN6 association and is regulated by homophilic ligation of CEACAM1 in the absence of T cell activation (PubMed:18424730). Phosphorylated at Tyr-520; mediates interaction with PTPN11 (By similarity).
messages: Pseudophosphorylated double mutant Thr-457->Asp and Ser-459->Asp. The single mutant Ser-459->Asp mutant highly binds with ANXA2.
messages: Secreted
messages: adherens junction
messages: microvillus membrane
messages: secretory vesicle membrane

9606:CBLL1
gene id: 9606:CBLL1
uniprot id: Q75N03
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Hakai family.
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that mediates ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1 (By similarity). Targets CDH1 for endocytosis and degradation (By similarity). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Its function in the WMM complex is unknown (PubMed:29507755).
messages: Homodimer (By similarity). Interacts with tyrosine-phosphorylated SRC substrates (By similarity). Component of the WMM complex, a N6-methyltransferase complex composed of a catalytic subcomplex, named MAC, and of an associated subcomplex, named MACOM (PubMed:29507755). The MAC subcomplex is composed of METTL3 and METTL14 (PubMed:29507755). The MACOM subcomplex is composed of WTAP, ZC3H13, CBLL1/HAKAI, VIRMA, and, in some cases of RBM15 (RBM15 or RBM15B) (PubMed:29507755). Also a component of a MACOM-like complex, named WTAP complex, composed of WTAP, ZC3H13, CBLL1, VIRMA, RBM15, BCLAF1 and THRAP3 (PubMed:24100041).
messages: Nucleus speckle
messages: Phosphorylated on tyrosine residues.
messages: The HYB domain forms a phosphotyrosine-binding pocket upon dimerization, and mediates as well the recognition of its flanking acidic amino acids.
messages: nucleoplasm

9606:NSL1
gene id: 9606:NSL1
uniprot id: Q96IY1
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of the MIS12 complex composed of MIS12, DSN1, NSL1/DC8 and PMF1. Interacts with KNL1.
messages: Nucleus
messages: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.
messages: kinetochore

9606:DIP2C
gene id: 9606:DIP2C
uniprot id: A0A0U1RQW6
uniprot id: Q9Y2E4
names: Similarity
messages: Belongs to the DIP2 family.

9606:OR4D2
gene id: 9606:OR4D2
uniprot id: A0A126GWK0
uniprot id: P58180
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:HNRNPH1
gene id: 9606:HNRNPH1
uniprot id: A0A384MEJ3
uniprot id: P31943
names: Domain
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Each quasi-RRM repeat bound poly(RG), while only the N-terminal QRRM bound poly(RC) and poly(RU). None of the repeats bound detectable amounts of poly(RA).
messages: Expressed ubiquitously.
messages: Part of a ternary complex containing FUBP2, PTBP1, PTBP2 and HNRNPH1. Identified in the spliceosome C complex. Interacts with IGF2BP1. Interacts with CUGBP1; the interaction is RNA-dependent. Interacts with MBNL1; the interaction in RNA-independent.
messages: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG).
messages: Up-regulated in myotonic dystrophy pathophysiology (DM).
messages: nucleoplasm

9606:HMOX2
gene id: 9606:HMOX2
uniprot id: A0A087WT44
uniprot id: B3KSE0
uniprot id: P30519
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: A soluble form arises by proteolytic removal of the membrane anchor.
messages: Belongs to the heme oxygenase family.
messages: Catalyzes the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron.
messages: Endoplasmic reticulum membrane
messages: Inhibited by metalloporphyrins such as Sn- and Zn-protoporphyrins.
messages: Microsome membrane

9606:P2RX5
gene id: 9606:P2RX5
uniprot id: Q93086
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the P2X receptor family.
messages: Expressed at high levels in brain and immune system.
messages: Functional P2XRs are organized as homomeric and heteromeric trimers.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Membrane
messages: Receptor for ATP that acts as a ligand-gated ion channel.

9606:SLC25A1
gene id: 9606:SLC25A1
uniprot id: B4DP62
uniprot id: D9HTE9
uniprot id: P53007
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the mitochondrial carrier (TC 2.A.29) family.
messages: Membrane
messages: Mitochondrial electroneutral antiporter that exports citrate from the mitochondria into the cytosol in exchange for malate (PubMed:29031613, PubMed:29238895). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis-aconitate and to a lesser extend cis-aconitate, maleate and succinate (PubMed:29031613). In the cytoplasm citrate is important in the regulation of glycolysis through a feedback mechanism and in the production of acetyl-CoA which is needed for the synthesis of fatty acids, sterols, prostaglandins, dolichol and coenzyme Q (CoQ). Required for proper neuromuscular junction formation (Probable).
messages: Mitochondrion inner membrane
messages: Possesses a short cleavable presequence, which, however, is found to be dispensable both for targeting to mitochondria and insertion into the inner membrane. However, the presequence is required to keep SLC25A1 in a soluble state and thus in an import-competent state. Mature SLC25A1 lacking the presequence is prone to aggregation.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SNX27
gene id: 9606:SNX27
uniprot id: Q96L92
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the sorting nexin family.
messages: Core component of the SNX27-retromer, a multiprotein complex composed of SNX27, the WASH complex and the retromer complex. Interacts (via PDZ domain) with a number of target transmembrane proteins (via PDZ-binding motif): ABCC4, ADRB2, ARHGEF7, GRIA1, GRIA2, GRIN1, GRIN2A GRIN2C, KCNJ6, KCNJ9 and SLC2A1/GLUT1. Interacts (via the FERM-like regions) with the WASH complex. Interacts with SNX1. Interacts with CYTIP. Isoform 1 and isoform 2 directly interact with DGKZ. Isoform 1 and isoform 2 interact with HT4R isoform 5-HTA(A). Interacts with MCC.
messages: Early endosome membrane
messages: Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing entry into the lysosomal pathway, and promotes retromer-tubule based plasma membrane recycling. SNX27 also binds with the WASH complex. Interacts with membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). May participate in establishment of natural killer cell polarity. Recruits CYTIP to early endosomes.
messages: May be due to intron retention.
messages: The PDZ domain mediates binding to a subset of proteins containing a PDZ-binding motif at the C-terminus: the specificity for PDZ-binding motif is provided by the 2 residues located upstream of the canonical PDZ-binding motif (By similarity). The PDZ domain also mediates binding to the retromer complex via direct interaction with VPS26 (VPS26A or VPS26B) (PubMed:23563491).
messages: The PX domain mediates binding to phosphatidylinositol 3-phosphate (PtdIns(3P)) and localization to early endosome membranes.
messages: Widely expressed. Expressed in cells of hematopoietic origin (at protein level).
messages: cytosol

9606:ATP6V1G2
gene id: 9606:ATP6V1G2
uniprot id: O95670
uniprot id: Q6NVJ2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the V-ATPase G subunit family.
messages: Brain.
messages: Melanosome
messages: Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment.
messages: V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex.
messages: V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex. The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H. The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR.
messages: clathrin-coated vesicle membrane

9606:ZNF506
gene id: 9606:ZNF506
uniprot id: Q5JVG8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:XXYLT1
gene id: 9606:XXYLT1
uniprot id: Q8NBI6
names: Caution
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose (PubMed:22117070, PubMed:8982869). Known targets include Notch proteins and coagulation factors, such as F9 (PubMed:22117070, PubMed:8982869).
messages: Belongs to the glycosyltransferase 8 family.
messages: Endoplasmic reticulum membrane
messages: Has the highest in vitro activity with 20 mM Mn(2+), a concentration entirely out of the physiological range. Can also utilize Mg(2+), suggesting this may be the physiological cofactor.
messages: Homodimer (PubMed:22117070). Dimer formation may be essential for the retention in endoplasmic reticulum (Probable).
messages: It is uncertain whether Met-1 or Met-14 is the initiator.

9606:SOX30
gene id: 9606:SOX30
uniprot id: O94993
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Acts as both a transcriptional activator and repressor (PubMed:10359848, PubMed:29739711). Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residues surrounding this core motif (PubMed:10359848). Binds to its own promoter and activates its own transcription (By similarity). Required to activate the expression of postmeiotic genes involved in spermiogenesis (By similarity). Binds to the promoter region of CTNNB1 and represses its transcription which leads to inhibition of Wnt signaling (PubMed:29739711). Also inhibits Wnt signaling by binding to the CTNNB1 protein, preventing interaction of CTNNB1 with TCF7L2/TCF4 (PubMed:29739711).
messages: Cytoplasm
messages: Interacts with CTNNB1, competitively inhibiting CTNNB1-TCF7L2/TCF4 interaction.
messages: Nucleus

9606:ZNF548
gene id: 9606:ZNF548
uniprot id: Q8NEK5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:ATG4D
gene id: 9606:ATG4D
uniprot id: B4DGM8
uniprot id: Q86TL0
names: Activity Regulation
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A paper describing ATG4D tissue expression has been retracted, due to concerns of image duplication in some of the figures.
messages: Belongs to the peptidase C54 family.
messages: Cleaved by CASP3 during apoptosis which leads to increased activity (PubMed:19549685, PubMed:22441018). The cleavage by CASP3 reveals a cryptic mitochondrial targeting sequence immediately downstream of their canonical caspase cleavage sites which leads to mitochondrial import of the protein (PubMed:19549685, PubMed:22441018).
messages: Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins (PubMed:21177865, PubMed:29458288, PubMed:30661429). The protease activity is required for proteolytic activation of ATG8 family proteins: cleaves the C-terminal amino acid of ATG8 proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine (PubMed:21177865). Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy (By similarity). In addition to the protease activity, also mediates delipidation of ATG8 family proteins (PubMed:29458288, PubMed:33909989). Catalyzes delipidation of PE-conjugated forms of ATG8 proteins during macroautophagy (PubMed:29458288, PubMed:33909989). Also involved in non-canonical autophagy, a parallel pathway involving conjugation of ATG8 proteins to single membranes at endolysosomal compartments, by catalyzing delipidation of ATG8 proteins conjugated to phosphatidylserine (PS) (PubMed:33909989). ATG4D plays a role in the autophagy-mediated neuronal homeostasis in the central nervous system (By similarity). Compared to other members of the family (ATG4A, ATG4B or ATG4C), constitutes the major protein for the delipidation activity, while it promotes weak proteolytic activation of ATG8 proteins (By similarity). Involved in phagophore growth during mitophagy independently of its protease activity and of ATG8 proteins: acts by regulating ATG9A trafficking to mitochondria and promoting phagophore-endoplasmic reticulum contacts during the lipid transfer phase of mitophagy (PubMed:33773106).
messages: Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins.
messages: Cytoplasm
messages: Inhibited by N-ethylmaleimide.
messages: Mitochondrion matrix
messages: Plays a role as an autophagy regulator that links mitochondrial dysfunction with apoptosis. The mitochondrial import of ATG4D during cellular stress and differentiation may play important roles in the regulation of mitochondrial physiology, ROS, mitophagy and cell viability.
messages: The cryptic mitochondrial transit peptide is revealed after cleavage by caspase upon oxidative stress and cell death (PubMed:22441018). It acts then as a functional transit peptide, and allows the import of the cleaved protein into the mitochondria (PubMed:22441018).
messages: Widely expressed in testis.

9606:ZNF91
gene id: 9606:ZNF91
uniprot id: Q05481
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Nucleus
messages: Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1 (PubMed:25274305). May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidence is required to confirm this result in vivo (PubMed:11470777).
messages: ZNF91 is only present in primates and emerged in the last common ancestor of humans and Old-World monkeys. It underwent structural changes between 8-12 Million years ago, probably to improve the protein's ability to bind and repress SINE-VNTR-Alu (SVA) retrotransposons elements (PubMed:25274305).

9606:MYZAP
gene id: 9606:MYZAP
uniprot id: P0CAP1
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein.
messages: Belongs to the MYZAP family.
messages: Cell junction
messages: Cell membrane
messages: Detected in heart, liver, skeletal muscle, placenta, small intestine, lung, prostate and testis. Expressed in arrector pili muscle (at protein level) (PubMed:29034528).
messages: I band
messages: Interacts with DSP, MPRIP and TJP1/ZO1. Interaction with MPRIP inhibits the activation of transcription factor SRF (By similarity). Interacts with GRIN1. Interacts with DYNLL1.
messages: Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity).
messages: The adjacent MYZAP and POLR2M genes are part of a complex transcription unit. The respective transcripts derive from different promoters and are alternatively spliced. In human, some transcripts of the upstream promoter of MYZAP use exons of the downstream POLR2M gene.
messages: Z line
messages: cytoskeleton

9606:CFAP73
gene id: 9606:CFAP73
uniprot id: A6NFT4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CFAP73 family.
messages: May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm.
messages: cilium axoneme

9606:SGK1
gene id: 9606:SGK1
uniprot id: B7Z325
uniprot id: E9PR89
uniprot id: O00141
names: Activity Regulation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily.
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
messages: Cell membrane
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Expressed in most tissues with highest levels in the pancreas, followed by placenta, kidney and lung. Isoform 2 is strongly expressed in brain and pancreas, weaker in heart, placenta, lung, liver and skeletal muscle.
messages: Homodimer; disulfide-linked. Forms a trimeric complex with FBXW7 and NOTCH1. Interacts with MAPK3/ERK1, MAPK1/ERK2, MAP2K1/MEK1, MAP2K2/MEK2, NEDD4, NEDD4L, MAPT/TAU, MAPK7, CREB1, SLC9A3R2/NHERF2 and KCNJ1/ROMK1. Associates with the mammalian target of rapamycin complex 2 (mTORC2) via an interaction with MAPKAP1/SIN1.
messages: Induced by a very large spectrum of stimuli distinct from glucocorticoids and serum. These include aldosterone, cell shrinkage, cell swelling, TGF-beta, ischemic injury of the brain, neuronal excitotoxicity memory consolidation, chronic viral hepatitis, DNA-damaging agents, vitamin D3 psychophysiological stress, iron, glucose, EDN1, CSF2, fibroblast growth factor, platelet-derived growth factor, phorbolesters, follicle-stimulating hormone, sorbitol, heat shock, oxidative stress, UV irradiation, and p53/TP53. Many of these stimuli are highly cell-specific, as is the case, for example for aldosterone, which has been found to stimulate its expression only in cells derived from aldosterone-responsive epithelia. Isoform 2 is not induced by glucocorticoids but by excessive extracellular glucose and by TGFB1, in cultured cells.
messages: Isoform 2 subcellular localization at the cell membrane and resistance to proteasomal degradation is mediated by the sequences within the first 120 amino acids.
messages: Mitochondrion
messages: Nucleus
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform 1.
messages: Regulated by phosphorylation. Activated by phosphorylation on Ser-422 by mTORC2, transforming it into a substrate for PDPK1 which phosphorylates it on Thr-256. Phosphorylation on Ser-397 and Ser-401 are also essential for its activity. Phosphorylation on Ser-78 by MAPK7 is required for growth factor-induced cell cycle progression.
messages: Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarization and memory consolidation. Up-regulates Na(+) channels: SCNN1A/ENAC, SCN5A and ASIC1/ACCN2, K(+) channels: KCNJ1/ROMK1, KCNA1-5, KCNQ1-5 and KCNE1, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channels: BSND, CLCN2 and CFTR, glutamate transporters: SLC1A3/EAAT1, SLC1A2 /EAAT2, SLC1A1/EAAT3, SLC1A6/EAAT4 and SLC1A7/EAAT5, amino acid transporters: SLC1A5/ASCT2, SLC38A1/SN1 and SLC6A19, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, glutamate receptor: GRIK2/GLUR6. Up-regulates carriers: SLC9A3/NHE3, SLC12A1/NKCC2, SLC12A3/NCC, SLC5A3/SMIT, SLC2A1/GLUT1, SLC5A1/SGLT1 and SLC15A2/PEPT2. Regulates enzymes: GSK3A/B, PMM2 and Na(+)/K(+) ATPase, and transcription factors: CTNNB1 and nuclear factor NF-kappa-B. Stimulates sodium transport into epithelial cells by enhancing the stability and expression of SCNN1A/ENAC. This is achieved by phosphorylating the NEDD4L ubiquitin E3 ligase, promoting its interaction with 14-3-3 proteins, thereby preventing it from binding to SCNN1A/ENAC and targeting it for degradation. Regulates store-operated Ca(+2) entry (SOCE) by stimulating ORAI1 and STIM1. Regulates KCNJ1/ROMK1 directly via its phosphorylation or indirectly via increased interaction with SLC9A3R2/NHERF2. Phosphorylates MDM2 and activates MDM2-dependent ubiquitination of p53/TP53. Phosphoryla…
messages: Two specific sites, one in the kinase domain (Thr-256) and the other in the C-terminal regulatory region (Ser-422), need to be phosphorylated for its full activation. Phosphorylation at Ser-397 and Ser-401 are also essential for its activity. Activated by WNK1, WNK2, WNK3 and WNK4.
messages: Ubiquitinated by NEDD4L; which promotes proteasomal degradation. Ubiquitinated by SYVN1 at the endoplasmic reticulum; which promotes rapid proteasomal degradation and maintains a high turnover rate in resting cells. Isoform 2 shows enhanced stability.

9606:PPIH
gene id: 9606:PPIH
uniprot id: O43447
uniprot id: Q6FH36
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cyclophilin-type PPIase family.
messages: Belongs to the cyclophilin-type PPIase family. PPIase H subfamily.
messages: Cytoplasm
messages: Inhibited by cyclosporin A.
messages: Interacts directly with PRPF4. Part of a heteromeric complex containing PPIH, PRPF3 and PRPF4 that is stable in the absence of RNA. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Heterodimer with PRPF18.
messages: Nucleus speckle
messages: PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. May act as a chaperone.
messages: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.

9606:JPH1
gene id: 9606:JPH1
uniprot id: Q7Z682
uniprot id: Q86VR1
uniprot id: Q9HDC5
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Abundantly expressed in skeletal muscle. Very low levels in heart.
messages: Belongs to the junctophilin family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes.
messages: Membrane
messages: Sarcoplasmic reticulum membrane
messages: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.

9606:MANEA
gene id: 9606:MANEA
uniprot id: Q5SRI9
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyl hydrolase 99 family.
messages: Golgi apparatus membrane
messages: Highly expressed in the liver and kidney. Expressed at lower levels in muscle, pancreas, heart, placenta, lung and brain.
messages: Undergoes proteolytic cleavage in the C-terminal region.

9606:C16orf74
gene id: 9606:C16orf74
uniprot id: Q96GX8
names: Miscellaneous
names: Sequence Caution
names: Subunit
names: Tissue Specificity
messages: Interacts (via PxIxIT motif, when phosphorylated on Thr-44) with PPP3CA.
messages: Intron retention.
messages: May act as a prognostic marker of median survival time in pancreatic cancer patients.
messages: Not expressed in pancreatic duct cells (at protein level). Abundantly expressed in the lymph node and weakly expressed in the stomach, trachea and bone marrow.
messages: Not expressed in pancreatic duct cells (at protein level). Abundantly expressed in the pancreas and weakly expressed in the thyroid.

9606:B4GALT2
gene id: 9606:B4GALT2
uniprot id: O60909
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 7 family.
messages: Golgi stack membrane
messages: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids (PubMed:9405390). Can produce lactose (PubMed:9405390).
messages: Weakly expressed in various tissues. Highest expression in prostate, testis, ovary, intestine, muscle, and in fetal brain.

9606:TAFA4
gene id: 9606:TAFA4
uniprot id: A0A024R369
uniprot id: Q96LR4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TAFA family.
messages: Expressed in brain (PubMed:15028294). Expressed in LPS-stimulated monocytes and macrophages, especially in polarized M1 (PubMed:25109685).
messages: Modulates injury-induced and chemical pain hypersensitivity (By similarity). Ligand of FPR1, can chemoattract macrophages, promote phagocytosis and increase ROS release (PubMed:25109685).
messages: Secreted

9606:VWA5A
gene id: 9606:VWA5A
uniprot id: O00534
names: Function
names: Tissue Specificity
messages: Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested.
messages: May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis.

9606:AKT1S1
gene id: 9606:AKT1S1
uniprot id: Q96B36
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Part of the mammalian target of rapamycin complex 1 (mTORC1) which contains MTOR, MLST8, RPTOR, AKT1S1/PRAS40 and DEPTOR. mTORC1 binds to and is inhibited by FKBP12-rapamycin. Interacts directly with RPTOR. The phosphorylated form interacts with 14-3-3 proteins.
messages: Phosphorylated by AKT1 (PubMed:12524439). Phosphorylation at Thr-246 by DYRK3 relieves inhibitory function on mTORC1 (PubMed:23415227).
messages: Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1 activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May also play a role in nerve growth factor-mediated neuroprotection.
messages: Widely expressed with highest levels of expression in liver and heart. Expressed at higher levels in cancer cell lines (e.g. A-549 and HeLa) than in normal cell lines (e.g. HEK293).
messages: cytosol

9606:ZNF33B
gene id: 9606:ZNF33B
uniprot id: Q06732
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:AXL
gene id: 9606:AXL
uniprot id: M0R0W6
uniprot id: P30530
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for Ebolavirus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.
messages: (Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.
messages: (Microbial infection) Promotes Zika virus entry in glial cells, Sertoli cells and astrocytes (PubMed:28076778, PubMed:29379210, PubMed:31311882). Additionally, Zika virus potentiates AXL kinase activity to antagonize type I interferon signaling and thereby promotes infection (PubMed:28076778). Interferon signaling inhibition occurs via an SOCS1-dependent mechanism (PubMed:29379210).
messages: AXL and its ligand GAS6 are highly expressed in thyroid carcinoma tissues, and might thus be involved in thyroid tumorigenesis. Overexpression of AXL and its ligand was also detected in many other cancers such as myeloproliferative disorders, prostatic carcinoma cells, or breast cancer.
messages: Activated by GAS6-binding and subsequent autophosphorylation.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily.
messages: Cell membrane
messages: Heterodimer and heterotetramer with ligand GAS6. Interacts with CBL, GRB2, LCK, NCK2, PIK3R1, PIK3R2, PIK3R3, PLCG1, SOCS1 and TNS2. Part of a complex including AXL, TNK2 and GRB2, in which GRB2 promotes AXL recruitment by TNK2.
messages: Highly expressed in metastatic colon tumors. Expressed in primary colon tumors. Weakly expressed in normal colon tissue.
messages: Membrane
messages: Monoubiquitinated upon GAS6-binding. A very small proportion of the receptor could be subjected to polyubiquitination in a very transient fashion.
messages: Phosphorylated at tyrosine residues by autocatalysis, which activates kinase activity.
messages: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding growth factor GAS6 and which is thus regulating many physiological processes including cell survival, cell proliferation, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of AXL. Following activation by ligand, AXL binds and induces tyrosine phosphorylation of PI3-kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1, LCK and PTPN11. Other downstream substrate candidates for AXL are CBL, NCK2, SOCS1 and TNS2. Recruitment of GRB2 and phosphatidylinositol 3 kinase regulatory subunits by AXL leads to the downstream activation of the AKT kinase. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. Also plays an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response.

9606:GASK1A
gene id: 9606:GASK1A
uniprot id: Q9UFP1
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the GASK family.
messages: Endoplasmic reticulum
messages: Expressed in skin, lung and colon (at protein level).
messages: Golgi apparatus
messages: O-glycosylated with core 1 or possibly core 8 glycans.
messages: Proteolytically cleaved. Cleaved at Arg-120 and Arg-437 leading to a processed mature product of 35 kDa. The cleavage takes place in the Golgi apparatus.
messages: Secreted
messages: caveola

9606:SOX21
gene id: 9606:SOX21
uniprot id: Q9Y651
names: Function
names: Subcellular Location Annotation
messages: May play a role as an activator of transcription of OPRM1. Overexpression of SOX21 can up-regulate the OPRM1 distal promoter activity in mor-expressing neuronal cells. May play a role in ameloblast differentiation.
messages: Nucleus

9606:UNC80
gene id: 9606:UNC80
uniprot id: Q8N2C7
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Auxiliary subunit of the NALCN sodium channel complex, a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (By similarity). Activated by neuropeptides substance P, neurotensin, and extracellular Ca(2+) that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular Ca(2+) (By similarity).
messages: Belongs to the unc-80 family.
messages: Cell membrane
messages: Moderately expressed in fetal brain, spinal cord, skeletal muscle, thymus, spleen, fetal liver, small intestine, colon, kidney and uterus. Highly expressed in adrenal gland, prostate and testis, as well as in brain and cerebellum.
messages: NALCN complex consists of NALCN and auxiliary subunits, UNC79, UNC80 and NACL1. These auxiliary subunits are essential for the NALCN complex function (By similarity). Interacts (via N-terminus half) with NALCN; this interaction facilitates NALCN surface localization (By similarity). Interacts with UNC79 (By similarity). UNC80 bridges NALCN to UNC79 (By similarity).
messages: Phosphorylated on tyrosine residues.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:THRAP3
gene id: 9606:THRAP3
uniprot id: Q9Y2W1
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ADP-ribosylation during genotoxic stress promotes accumulation in nuclear speckles.
messages: Associated with the large multiprotein complex TRAP (Mediator complex-like). Interacts with SFPQ; the interaction is dependent on SFPQ phosphorylation at 'Thr-687' and inhibits binding of SFPQ to an ESS1 exonic splicing silencer element-containing RNA. Interacts with NXF1. Component of the SNARP complex which consists at least of SNIP1, SNW1, THRAP3, BCLAF1 and PNN. Associated with spliced mRNP complexes. Interacts with HELZ2 and PPARG. Interacts with CLOCK and BMAL1 (By similarity). Component of a MACOM-like complex, named WTAP complex, composed of WTAP, ZC3H13, CBLL1, KIAA1429, RBM15, BCLAF1 and THRAP3.
messages: Belongs to the BCLAF1/THRAP3 family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition. May be involved in nuclear mRNA decay. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45 is proposed to sequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in resting T-cells. Involved in cyclin-D1/CCND1 mRNA stability probably by acting as component of the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in response to DNA damage. Is excluced from DNA damage sites in a manner that parallels transcription inhibition; the function may involve the SNARP complex. Initially thought to play a role in transcriptional coactivation through its association with the TRAP complex; however, it is not regarded as a stable Mediator complex subunit. Cooperatively with HELZ2, enhances the transcriptional activation mediated by PPARG, maybe through the stabilization of the PPARG binding to DNA in presence of ligand. May play a role in the terminal stage of adipocyte differentiation. Plays a role in the positive regulation of the circadian clock. Acts as a coactivator of the CLOCK-BMAL1 heterodimer and promotes its transcriptional activator activity and binding to circadian target genes (PubMed:24043798).
messages: Nucleus
messages: Nucleus speckle
messages: Ubiquitous.
messages: nucleoplasm

9606:KCNJ5
gene id: 9606:KCNJ5
uniprot id: A0A5J6E2W8
uniprot id: P48544
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ5 subfamily.
messages: Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona glomerulosa.
messages: May associate with GIRK1 and GIRK2 to form a G-protein-activated heteromultimer pore-forming unit. The resulting inward current is much larger.
messages: Membrane
messages: Mutations in KCNJ5 are involved in the pathogenesis of hypertension without primary aldosteronism but with increased aldosterone response to ACTH stimulation.
messages: Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas and can be responsible for aldosteronism associated with cell autonomous proliferation. APAs are typically solitary, well circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening hypertension, often with hypokalemia. The precise role of KCNJ5 mutations in APA is under debate. They produce increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. However, they may not be causative of APA development but may be a consequence of tumorigenesis, playing only a contributory role toward aldosterone overproduction and tumor growth (PubMed:22275527). Somatic mutations in KCNJ5 have not been found in non-aldosterone secreting adrenal adenomas suggesting that they are specifically associated with APA (PubMed:22275527 and PubMed:22848660).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium.

9606:NDUFS3
gene id: 9606:NDUFS3
uniprot id: O75489
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the complex I 30 kDa subunit family.
messages: Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891). Interacts with NDUFAF3 (PubMed:19463981). Interacts with RAB5IF (PubMed:31536960). Found in subcomplexes containing subunits NDUFS2, MT-ND1 and NDUFA13 (PubMed:17209039, PubMed:18826940).
messages: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14729820, PubMed:30140060). Essential for the catalytic activity and assembly of complex I (PubMed:14729820, PubMed:24028823, PubMed:30140060).
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:POU4F2
gene id: 9606:POU4F2
uniprot id: Q12837
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the POU transcription factor family. Class-4 subfamily.
messages: Cytoplasm
messages: Expressed in the brain (PubMed:7691107). Expressed in the ganglion cell layer of the retina (PubMed:7691107).
messages: Interacts with POU4F1; this interaction inhibits both POU4F1 DNA-binding and transcriptional activities. Interacts (C-terminus) with ESR1 (via DNA-binding domain); this interaction increases the estrogen receptor ESR1 transcriptional activity in a DNA- and ligand 17-beta-estradiol-independent manner. Interacts (via C-terminus) with TP53 (via N-terminus). Interacts with DLX1 (via homeobox DNA-binding domain); this interaction suppresses DLX1-mediated transcriptional activity in postnatal retina enhancing retinal ganglion cell (RGC) differentiation. Interacts with DLX2 (via homeobox DNA-binding domain); this interaction enhances RGC differentiation. Interacts (via C-terminus) with ISL1 (via C-terminus). Interacts with ISL2. Interacts with LHX2.
messages: Nucleus
messages: Nucleus speckle
messages: The N-terminal transcriptional activation region is sufficient to induce transcriptional activity.
messages: The POU-specific domain and POU homeodomain regions are necessary for DNA-binding activity and transcriptional repression.
messages: The polyhistidine motif acts as a targeting signal to nuclear speckles.
messages: Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells (PubMed:19266028, PubMed:23805044). Functions either as activator or repressor modulating the rate of target gene transcription through RNA polymerase II enzyme in a promoter-dependent manner (PubMed:19266028, PubMed:23805044). Binds to the consensus octamer motif 5'-AT[A/T]A[T/A]T[A/T]A-3' of promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Binds to an octamer site to form a ternary complex with ISL1; cooperates positively with ISL1 and ISL2 to potentiate transcriptional activation of RGC target genes being involved in RGC fate commitment in the developing retina and RGC axon formation and pathfinding. Inhibits DLX1 and DLX2 transcriptional activities preventing DLX1- and DLX2-mediated ability to promote amacrine cell fate specification. In cooperation with TP53 potentiates transcriptional activation of BAX promoter activity increasing neuronal cell apoptosis. Negatively regulates BAX promoter activity in the absence of TP53. Acts as a transcriptional coactivator via its interaction with the transcription factor ESR1 by enhancing its effect on estrogen response element (ERE)-containing promoter. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to an octamer motif. Involved in TNFSF11-mediated terminal osteoclast differentiation (By similarity).

9606:FRG2B
gene id: 9606:FRG2B
uniprot id: Q96QU4
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the FRG2 family.
messages: Nucleus

9606:CTBP1
gene id: 9606:CTBP1
uniprot id: Q13363
uniprot id: X5D8Y5
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Epstein-Barr virus EBNA3 and EBNA6.
messages: (Microbial infection) Interacts with adenovirus E1A protein (via its C-terminus); the interaction disrupts the interaction of CTBP1 with RBBP8.
messages: (Microbial infection) Interacts with human adenovirus 5 E1A protein; this interaction seems to potentiate viral replication.
messages: ADP-ribosylated; when cells are exposed to brefeldin A.
messages: Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
messages: Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation.
messages: Cytoplasm
messages: Expressed in germinal center B-cells.
messages: Homo- or heterodimer. Heterodimer with CTBP2. Interacts with PRDM16; the interaction represses white adipose tissue (WAT)-specific genes expression. Interacts with GLIS2, FOXP2, HDAC4, HDAC5, HDAC9 and ZNF217. Interacts with ELK3 (via its PXDLS motif). Interacts with RBBP8 (via its PXDLS motif); the interaction is disrupted by binding to adenovirus E1A. Interacts with FOXP1, HIPK2, PNN, NRIP1, MECOM, ZFHX1B and WIZ. Interacts with ZNF366 (via PXDLS motif) (PubMed:16393996, PubMed:17085477). Interaction with SATB1 (non-acetylated form); the interaction stabilizes its attachment to DNA and promotes transcription repression. Interacts with BCL6; the interaction is required for BCL6 transcriptional autoinhibition and inhibition of some BCL6 target genes. Interacts with IKZF4 (By similarity). Interacts with MCRIP1 (unphosphorylated form, via the PXDLS motif); competitively inhibiting CTBP-ZEB1 interaction (PubMed:25728771). Interacts with Bassoon/BSN; this interaction targets and anchors CTBP1 to presynapses (By similarity). Interacts with SIMC1 (PubMed:23707407).
messages: NAD is required for efficient interaction with E1A. Cofactor binding induces a conformation change.
messages: Nucleus
messages: Sumoylation on Lys-428 is promoted by the E3 SUMO-protein ligase CBX4.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The level of phosphorylation appears to be regulated during the cell cycle. Phosphorylation by HIPK2 on Ser-422 induces proteasomal degradation.

9606:TMEM255A
gene id: 9606:TMEM255A
uniprot id: Q5JRV8
uniprot id: Q7Z4S8
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TMEM255 family.
messages: Membrane

9606:OFD1
gene id: 9606:OFD1
uniprot id: O75665
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the OFD1 family.
messages: Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164 (By similarity). Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis (PubMed:33934390). Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).
messages: Homooligomer. Interacts with LCA5. Interacts with RUVBL1; the interaction is direct and may mediate interaction with the NuA4 histone acetyltransferase complex. Interacts with SDCCAG8; the interaction is direct. Interacts with MAP1LC3B. Interacts with C2CD3; OFD1 may act as a negative regulator of C2CD3. Forms a complex with KIAA0753/OFIP and CEP20/FOR20; the interaction with CEP20 is detected only in the presence of KIAA0753. Interacts with PCM1; this interaction may be mediated by KIAA0753/OFIP (PubMed:26643951). Interacts with TBC1D31; regulates OFD1 activity in cilium assembly (PubMed:33934390).
messages: Nucleus
messages: Phosphorylated. Phosphorylation at Ser-735, by the cAMP-dependent protein kinase PKA, triggers ubiquitination and proteasomal degradation of OFD1. Also increases its interaction with TBC1D31 and regulates its function in ciliogenesis.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by PJA2, upon phosphorylation at Ser-735 by PKA, leads to the proteasomal degradation of OFD1.
messages: Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb.
messages: centriolar satellite
messages: centriole
messages: cilium basal body

9606:LY6D
gene id: 9606:LY6D
uniprot id: Q14210
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Expressed exclusively at the outer cell surface of transitional epithelia and the keratinocyte of stratified squamous epithelia.
messages: May act as a specification marker at earliest stage specification of lymphocytes between B- and T-cell development. Marks the earliest stage of B-cell specification.

9606:PABPC5
gene id: 9606:PABPC5
uniprot id: Q96DU9
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity).
messages: Cytoplasm
messages: Expressed in fetal brain and in a range of adult tissues.
messages: Mitochondrion matrix

9606:SNCAIP
gene id: 9606:SNCAIP
uniprot id: Q9Y6H5
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Constructs encoding portions of SNCA and SNCAIP co-transfected in mammalian cells promote cytosolic inclusions resembling the Lewy bodies of Parkinson disease. Coexpression of SNCA, SNCAIP, and PRKN result in the formation of Lewy body-like. ubiquitin-positive cytosolic inclusions. SNCAIP isoform 2 is particularly aggregation-prone. Familial mutations in PRKN disrupt the ubiquitination of SNCAIP and the formation of the ubiquitin-positive inclusions. These results provide a molecular basis for the ubiquitination of Lewy body-associated proteins and link PRKN and SNCA in a common pathogenic mechanism through their interaction with SNCAIP.
messages: Cytoplasm
messages: Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta.
messages: Disease susceptibility may be associated with variants affecting the gene represented in this entry.
messages: Homodimer (Probable). Heterodimer of isoform 1 and isoform 2 (Probable). Interacts with SIAH1, SIAH2, SNCA, RNF19A and PRKN. Isoform 2 has a strong tendency to form aggregates and can sequester isoform 1.
messages: Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1.
messages: Ubiquitinated; mediated by SIAH1, SIAH2 or RNF19A and leading to its subsequent proteasomal degradation. In the absence of proteasomal degradation, ubiquitinated SNCAIP accumulates in cytoplasmic inclusion bodies. Isoform 2 is subject to limited ubiquitination that does not lead to proteasomal degradation.

9606:MTMR9
gene id: 9606:MTMR9
uniprot id: Q96QG7
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as an adapter for myotubularin-related phosphatases (PubMed:19038970, PubMed:22647598). Increases lipid phosphatase MTMR6 catalytic activity, specifically towards phosphatidylinositol 3,5-bisphosphate and MTMR6 binding affinity for phosphorylated phosphatidylinositols (PubMed:19038970, PubMed:22647598). Positively regulates lipid phosphatase MTMR7 catalytic activity (By similarity). Increases MTMR8 catalytic activity towards phosphatidylinositol 3-phosphate (PubMed:22647598). The formation of the MTMR6-MTMR9 complex, stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970). Stabilizes MTMR8 protein levels (PubMed:22647598). Plays a role in the late stages of macropinocytosis possibly by regulating MTMR6-mediated dephosphorylation of phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Negatively regulates autophagy, in part via its association with MTMR8 (PubMed:22647598). Negatively regulates DNA damage-induced apoptosis, in part via its association with MTMR6 (PubMed:19038970, PubMed:22647598). Does not bind mono-, di- and tri-phosphorylated phosphatidylinositols, phosphatidic acid and phosphatidylserine (PubMed:19038970).
messages: Although it belongs to the non-receptor class myotubularin subfamily, lacks the conserved active site cysteine residue at position 333 in the dsPTPase catalytic loop, suggesting that it has no phosphatase activity.
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Expressed in many tissues.
messages: Homodimer (PubMed:19038970). Heterodimer (via C-terminus) with lipid phosphatase MTMR6 (via C-terminus) (PubMed:16787938, PubMed:12890864, PubMed:19038970, PubMed:23188820). Heterodimer (via coiled coil domain) with lipid phosphatase MTMR7 (via C-terminus) (By similarity). Heterodimer with lipid phosphatase MTMR8 (PubMed:22647598, PubMed:16787938).
messages: The GRAM domain is required for cell membrane localization.
messages: The coiled coil domain mediates interaction with MTMR9.
messages: perinuclear region
messages: ruffle membrane

9606:CD14
gene id: 9606:CD14
uniprot id: P08571
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Coreceptor for bacterial lipopolysaccharide (PubMed:1698311, PubMed:23264655). In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:20133493, PubMed:23264655, PubMed:22265692). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:8612135). Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187).
messages: Detected on macrophages (at protein level) (PubMed:1698311). Expressed strongly on the surface of monocytes and weakly on the surface of granulocytes; also expressed by most tissue macrophages.
messages: Golgi apparatus
messages: Interacts with LPS-bound LPB (PubMed:1698311, PubMed:23264655). Belongs to the lipopolysaccharide (LPS) receptor, a multi-protein complex containing at least CD14, LY96 and TLR4 (PubMed:11274165). Interacts with LPAR1 (By similarity). Interacts with the TLR2:TLR6 or TLR2:TLR1 heterodimers; upon interaction with ligands such as diacylated lipopeptides and triacylated lipopeptides, respectively (PubMed:16880211). Interacts with MYO18A (PubMed:25965346). Interacts with FSTL1 (PubMed:22265692).
messages: Membrane raft
messages: N- and O- glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan.
messages: Secreted
messages: The C-terminal leucine-rich repeat (LRR) region is required for responses to smooth LPS.
messages: The expression in monocytes is highly induced by 27-hydroxycholesterol, priming monocytes/macrophages such that LPS-mediated inflammatory reaction is accelerated. Secretion of soluble CD14 is also enhanced.

9606:RCN3
gene id: 9606:RCN3
uniprot id: Q96D15
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CREC family.
messages: Degraded by PCSK6 and other endoproteases including FURIN and PCSK5.
messages: Down-regulated by aldosterone (at protein level). No effect at the transcript level.
messages: Endoplasmic reticulum lumen
messages: Interacts with PCSK6 (immature form including the propeptide); probably involved in the maturation and the secretion of PCSK6.
messages: N-glycosylated.
messages: Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum (PubMed:16433634, PubMed:28939891). Required for the proper biosynthesis and transport of pulmonary surfactant-associated protein A/SP-A, pulmonary surfactant-associated protein D/SP-D and the lipid transporter ABCA3 (By similarity). By regulating both the proper expression and the degradation through the endoplasmic reticulum-associated protein degradation pathway of these proteins plays a crucial role in pulmonary surfactant homeostasis (By similarity). Has an anti-fibrotic activity by negatively regulating the secretion of type I and type III collagens (PubMed:28939891). This calcium-binding protein also transiently associates with immature PCSK6 and regulates its secretion (PubMed:16433634).
messages: Widely expressed.

9606:KCNK10
gene id: 9606:KCNK10
uniprot id: P57789
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Abundantly expressed in pancreas and kidney and to a lower level in brain, testis, colon, and small intestine. Isoform b is strongly expressed in kidney (primarily in the proximal tubule) and pancreas, whereas isoform c is abundantly expressed in brain.
messages: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
messages: Membrane
messages: Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. Activated by arachidonic acid and other naturally occurring unsaturated free fatty acids.

9606:LGSN
gene id: 9606:LGSN
uniprot id: Q5TDP6
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Abundantly expressed in lens.
messages: Belongs to the glutamine synthetase family.
messages: Dodecamer. Interacts with BFSP2 and VIM (By similarity).
messages: May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity).

9606:ZSCAN30
gene id: 9606:ZSCAN30
uniprot id: Q86W11
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus
messages: Probable cloning artifact.

9606:PRRX1
gene id: 9606:PRRX1
uniprot id: P54821
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity).
messages: Belongs to the paired homeobox family.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NKAPL
gene id: 9606:NKAPL
uniprot id: Q5M9Q1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NKAP family.
messages: Interacts with RBPJ, CIR1 and HDAC3.
messages: Nucleus
messages: Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis.

9606:TMEM225B
gene id: 9606:TMEM225B
uniprot id: P0DP42
names: Subcellular Location Annotation
messages: Membrane

9606:SMAD2
gene id: 9606:SMAD2
uniprot id: B7Z5N5
uniprot id: Q15796
uniprot id: Q53XR6
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated on Lys-19 by coactivators in response to TGF-beta signaling, which increases transcriptional activity. Isoform short: Acetylation increases DNA binding activity in vitro and enhances its association with target promoters in vivo. Acetylation in the nucleus by EP300 is enhanced by TGF-beta.
messages: Belongs to the dwarfin/SMAD family.
messages: Cytoplasm
messages: Expressed at high levels in skeletal muscle, endothelial cells, heart and placenta.
messages: In response to TGF-beta, ubiquitinated by NEDD4L; which promotes its degradation. Monoubiquitinated, leading to prevent DNA-binding (By similarity). Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes (PubMed:21947082). Ubiquitinated by RNF111, leading to its degradation: only SMAD2 proteins that are 'in use' are targeted by RNF111, RNF111 playing a key role in activating SMAD2 and regulating its turnover (By similarity).
messages: Monomer; in the absence of TGF-beta (PubMed:9670020). Heterodimer; in the presence of TGF-beta (PubMed:9670020). Forms a heterodimer with co-SMAD, SMAD4, in the nucleus to form the transactivation complex SMAD2/SMAD4 (PubMed:9670020, PubMed:24324267, PubMed:15350224). Found in a complex with SMAD3 and TRIM33 upon addition of TGF-beta (PubMed:16751102). Identified in a complex that contains at least ZNF451, SMAD2, SMAD3 and SMAD4 (PubMed:24324267). Interacts (via the MH2 domain) with ZFYVE9; may form trimers with the SMAD4 co-SMAD (PubMed:10615055). Interacts with TAZ/WWRT1 (PubMed:18568018). Interacts with FOXH1 (PubMed:9702198). Interacts with SNW1 (PubMed:11278756). Interacts with CREB-binding protein (CBP) and EP300 (PubMed:16862174). Interacts with SNON (PubMed:11389444). Interacts with ALK4/ACVR1B (PubMed:9892009, PubMed:10615055). Interacts with SKOR1 (PubMed:17292623). Interacts with SKOR2 (PubMed:16200078). Interacts with PRDM16 (PubMed:19049980). Interacts (via MH2 domain) with LEMD3 (PubMed:15601644, PubMed:15647271). Interacts with RBPMS (PubMed:17099224). Interacts with WWP1. Interacts (dephosphorylated form, via the MH1 and MH2 domains) with RANBP3 (via its C-terminal R domain); the interaction results in the export of dephosphorylated SMAD3 out of the nucleus and termination of the TGF-beta signaling (PubMed:19289081). Interacts with PDPK1 (via PH domain) (PubMed:17327236). Interacts with DAB2; the interactions are enhanced upon TGF-beta stimulation (PubMed:11387212). Interacts with USP15 (PubMed:21947082). Interacts with PPP5C (PubMed:22781750). Interacts with LDLRAD4 (via the SMAD interaction motif) (PubMed:24627487). Interacts (via MH2 domain) with PMEPA1 (via the SMAD interaction motif) (PubMed:20129061). Interacts with ZFHX3 (PubMed:25105025). Interacts with ZNF451 (PubMed:24324267). Interacts with SMURF2 when phosphorylated on Ser-465/467 (PubMed:11389444). Interacts with PPM1A (PubMed:16751101). Interacts with TGF-beta (PubMed:8980228). Interact…
messages: Nucleus
messages: Phosphorylated on one or several of Thr-220, Ser-245, Ser-250, and Ser-255. In response to TGF-beta, phosphorylated on Ser-465/467 by TGF-beta and activin type 1 receptor kinases. TGF-beta-induced Ser-465/467 phosphorylation declines progressively in a KMT5A-dependent manner. Able to interact with SMURF2 when phosphorylated on Ser-465/467, recruiting other proteins, such as SNON, for degradation. In response to decorin, the naturally occurring inhibitor of TGF-beta signaling, phosphorylated on Ser-240 by CaMK2. Phosphorylated by MAPK3 upon EGF stimulation; which increases transcriptional activity and stability, and is blocked by calmodulin. Phosphorylated by PDPK1.
messages: Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:OR5AU1
gene id: 9606:OR5AU1
uniprot id: A0A126GVW7
uniprot id: Q8NGC0
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:CENPE
gene id: 9606:CENPE
uniprot id: Q02224
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Aberrant splicing.
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
messages: Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Drives chromosome congression (alignment of chromosomes at the spindle equator resulting in the formation of the metaphase plate) by mediating the lateral sliding of polar chromosomes along spindle microtubules towards the spindle equator and by aiding the establishment and maintenance of connections between kinetochores and spindle microtubules (PubMed:7889940, PubMed:23891108, PubMed:25395579). The transport of pole-proximal chromosomes towards the spindle equator is favored by microtubule tracks that are detyrosinated (PubMed:25908662). Acts as a processive bi-directional tracker of dynamic microtubule tips; after chromosomes have congressed, continues to play an active role at kinetochores, enhancing their links with dynamic microtubule ends (PubMed:23955301). Suppresses chromosome congression in NDC80-depleted cells and contributes positively to congression only when microtubules are stabilized (PubMed:25743205). Plays an important role in the formation of stable attachments between kinetochores and spindle microtubules (PubMed:17535814) The stabilization of kinetochore-microtubule attachment also requires CENPE-dependent localization of other proteins to the kinetochore including BUB1B, MAD1 and MAD2. Plays a role in spindle assembly checkpoint activation (SAC) via its interaction with BUB1B resulting in the activation of its kinase activity, which is important for activating SAC. Necessary for the mitotic checkpoint signal at individual kinetochores to prevent aneuploidy due to single chromosome loss (By similarity).
messages: Monomer (PubMed:15236970). Interacts with CENPF (PubMed:9763420). Interacts with BUB1B (PubMed:9763420, PubMed:19625775). Interacts with SEPT7 (PubMed:18460473). Interacts with KIF18A (PubMed:19625775). Interacts with PRC1 (PubMed:15297875). Interacts with NUF2; this interaction determines kinetochore localization (PubMed:17535814). Interacts with SKAP; this interaction greatly favors SKAP binding to microtubules (PubMed:22110139). Interacts with TRAPPC12 (PubMed:25918224). Interacts with CTCF (PubMed:25395579).
messages: Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association to the kinetochore.
messages: The C-terminal inhibitory domain is phosphorylated. Phosphorylation relieves autoinhibition of the kinetochore motor (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The protein is composed of a N-terminal kinesin-motor domain involved in the chromosome movements, a long coil-coiled region involved in the homodimerization and an inhibitory C-tail involved in autoinhibition of the N-terminal catalytic part.
messages: centromere
messages: kinetochore
messages: spindle

9606:RRP1
gene id: 9606:RRP1
uniprot id: P56182
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RRP1 family.
messages: Interacts with C1QBP (PubMed:21536856). Interacts with RRP1B (PubMed:20926688).
messages: Methylated at Gln-427 by N6AMT1.
messages: Plays a critical role in the generation of 28S rRNA.
messages: Ubiquitously expressed in fetal and adult tissues.
messages: nucleolus

9606:THPO
gene id: 9606:THPO
uniprot id: A0A3B3ITS0
uniprot id: F8W6L1
uniprot id: P40225
uniprot id: Q5FBX8
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the EPO/TPO family.
messages: Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major physiological regulator of circulating platelets.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Two-domain structure with an erythropoietin-like N-terminal and a Ser/Pro/Thr-rich C-terminal.

9606:DOC2B
gene id: 9606:DOC2B
uniprot id: Q14184
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: C2 domain 1 is involved in binding calcium and phospholipids. C2 domain 2 may also play a role in the calcium-dependent targeting to membranes (By similarity).
messages: Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes (By similarity).
messages: Cell membrane
messages: Cytoplasm
messages: Cytoplasmic granule
messages: Interacts with the SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) complex composed of SNAP25, STX1A and VAMP2; the interaction is calcium-dependent and competitive with SYT1. Interacts with STX4; the interaction is calcium-dependent, increased by insulin and glucose, and mediates vesicle fusion with plasma membrane in pancreatic cells and adipocytes. Interacts with STXBP3; the interaction is direct, occurs at the cell membrane and regulates glucose-stimulated insulin secretion. May interact with UNC13A; the interaction mediates targeting to the plasma membrane (By similarity). Interacts with cytoplasmic dynein light chain DYNLT1.
messages: Widely expressed with highest levels in brain and kidney. Expressed in pancreatic islet cells (at protein level).

9606:NEURL3
gene id: 9606:NEURL3
uniprot id: Q96EH8
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with hepatitis C virus protein E1; this interaction prevents E1 interaction with E2 and subsequently inhibits viral infection.
messages: By hepatitis C virus.
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that plays a role in various biological processes such as lung development or innate immunity (PubMed:30111563). Seems to utilize UBE2E1. Promotes innate antiviral response by catalyzing 'Lys-63'-linked ubiquitination of IRF7 (PubMed:35792897). Inhibits also hepatitis C virus assembly by directly binding to viral E1 envelope glycoprotein to disrupt its interaction with E2 (PubMed:30111563).

9606:AKAP5
gene id: 9606:AKAP5
uniprot id: P24588
uniprot id: Q6PG46
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binding protein for dimer of the RII-beta regulatory subunit of cAMP-dependent protein kinase (PKA) and also for the protein kinase C (PKC) and the phosphatase calcineurin (PP2B). Each enzyme is inhibited when bound to the anchoring protein. Also binds the beta2-adrenergic receptor. Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity). Interacts with ADCY8, and enhances its phosphorylation at lipid rafts.
messages: Membrane
messages: Multivalent scaffold protein that anchors the cAMP-dependent protein kinase/PKA to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors (PubMed:1512224). Association with the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade. Plays a role in long term synaptic potentiation by regulating protein trafficking from the dendritic recycling endosomes to the plasma membrane and controlling both structural and functional plasticity at excitatory synapses (PubMed:25589740).
messages: Palmitoylated (PubMed:21771783, PubMed:25589740). Palmitoylation at Cys-36 and Cys-129 play a key role in the targeting of AKAP5 to lipid rafts (PubMed:21771783). Palmitoylation by ZDHHC2 is required for AKAP5 function in LTP-stimulated recycling endosome exocytosis (PubMed:25589740).
messages: Postsynaptic recycling endosome membrane
messages: Predominantly in the cerebral cortex and the postsynaptic densities of the forebrain, and to a lesser extent in adrenal medulla, lung and anterior pituitary.
messages: RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
messages: The N-terminal region, which is highly basic, is required for interaction with calmodulin.

9606:SLC1A3
gene id: 9606:SLC1A3
uniprot id: A0A024R050
uniprot id: A0A087WT87
uniprot id: A0A087X0U3
uniprot id: B4DF14
uniprot id: P43003
uniprot id: Q8N169
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family.
messages: Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A3 subfamily.
messages: Cell membrane
messages: Contains eight transmembrane regions plus two helical hairpins that dip into the membrane. These helical hairpin structures play an important role in the transport process. The first enters the membrane from the cytoplasmic side, the second one from the extracellular side. During the transport cycle, the regions involved in amino acid transport, and especially the helical hairpins, move vertically by about 15-18 Angstroms, alternating between exposure to the aqueous phase and reinsertion in the lipid bilayer. In contrast, the regions involved in trimerization do not move.
messages: Detected in brain (PubMed:8218410, PubMed:7521911, PubMed:8123008). Detected at very much lower levels in heart, lung, placenta and skeletal muscle (PubMed:7521911, PubMed:8123008). Highly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal ganglia (PubMed:7521911).
messages: Expressed throughout the CNS, both in gray matter and axonal tracts, at levels ranging between 10% and 20% of isoform 1. Localizes to ER, has no functional glutamate uptake activity, and exerts a dominant negative effect isoform 1.
messages: Glycosylated.
messages: Homotrimer (PubMed:28424515).
messages: Membrane
messages: Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:8123008, PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:20477940). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:20477940). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PFKL
gene id: 9606:PFKL
uniprot id: P17858
names: Activity Regulation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Allosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate. GlcNAcylation by OGT overcomes allosteric regulation.
messages: Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily.
messages: Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis (PubMed:22923583). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by controlling cellular NADPH biosynthesis and NADPH oxidase-derived reactive oxygen species. Upon macrophage activation, drives the metabolic switch toward glycolysis, thus preventing glucose turnover that produces NADPH via pentose phosphate pathway (By similarity).
messages: Cytoplasm
messages: GlcNAcylation at Ser-529 by OGT decreases enzyme activity, leading to redirect glucose flux through the oxidative pentose phosphate pathway. Glycosylation is stimulated by both hypoxia and glucose deprivation.
messages: Glycosylation may play a role in cancer cell proliferation: inhibition of 6-phosphofructokinase activity and subsequent redirection of the glucose flux through the oxidative pentose phosphate pathway confers a selective growth advantage on cancer cells. Moreover GlcNAcylation is observed in multiple cancer cell lines and tissue samples and GlcNAcylation leads to larger xenografts tunors in mice (PubMed:22923583).
messages: Homo- and heterotetramers (By similarity). Phosphofructokinase (PFK) enzyme functions as a tetramer composed of different combinations of 3 types of subunits, called PFKM (where M stands for Muscle), PFKL (Liver) and PFKP (Platelet). The composition of the PFK tetramer differs according to the tissue type it is present in. In muscles, it is composed of 4 PFKM subunits (also called M4). In the liver, the predominant form is a tetramer of PFKL subunits (L4). In erythrocytes, both PFKM and PFKL subunits randomly tetramerize to form M4, L4 and other combinations (ML3, M2L2, M3L). The kinetic and regulatory properties of the tetrameric enzyme are dependent on the subunit composition, hence can vary across tissues (Probable).
messages: In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.

9606:IAPP
gene id: 9606:IAPP
uniprot id: A0A024RAU1
uniprot id: P10997
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Amyloid fibrils are degraded by IDE.
messages: Belongs to the calcitonin family.
messages: IAPP is the peptide subunit of amyloid found in pancreatic islets of type 2 diabetic patients and in insulinomas.
messages: Interacts with IDE and INS. Can form homodimers. Interaction with INS inhibits homodimerization and fibril formation.
messages: Secreted
messages: Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism.
messages: The mature protein is largely unstructured in the absence of a cognate ligand, and has a strong tendency to form fibrillar aggregates. Homodimerization may be the first step of amyloid formation.

9606:BTN3A3
gene id: 9606:BTN3A3
uniprot id: A0A024R042
uniprot id: O00478
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the immunoglobulin superfamily. BTN/MOG family.
messages: Cell membrane
messages: Detected in peripheral blood mononuclear cells and in T-cells (at protein level). Detected in spleen and lymphocytes.
messages: Homodimer.
messages: Membrane
messages: N-glycosylated.
messages: Plays a role in T-cell responses in the adaptive immune response.

9606:ILDR1
gene id: 9606:ILDR1
uniprot id: Q86SU0
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the immunoglobulin superfamily. LISCH7 family.
messages: Cell membrane
messages: Homooligomer (PubMed:15381095). Interacts with MARVELD2 and OCLN; the interaction is required to recruit MARVELD2 to tricellular contacts (PubMed:23239027). Interacts (via C-terminus) with TRA2A, TRA2B and SRSF1 (By similarity).
messages: Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.
messages: Maintains epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (tTJs) (PubMed:23239027). Crucial for normal hearing by maintaining the structural and functional integrity of tTJs, which are critical for the survival of auditory neurosensory HCs. Mediates fatty acids and lipoproteins-stimulated CCK/cholecystokinin secretion in the small intestine. In the inner ear, may regulate alternative pre-mRNA splicing via binding to TRA2A, TRA2B and SRSF1 (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol
messages: tight junction

9606:STAT4
gene id: 9606:STAT4
uniprot id: Q14765
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation at Lys-667 is required for JAK2-mediated phosphorylation and activation of STAT4.
messages: Belongs to the transcription factor STAT family.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Forms a homodimer or a heterodimer with a related family member. Interacts with ARL2BP (By similarity). The SH2 domain interacts, in vitro, with IL12RB2 via a short cytoplasmic domain. Interacts with STAT1 (PubMed:34508746). Interacts with JUN; this complex efficiently interacts with the AP-1-related sequence of the IFN-gamma (By similarity).
messages: Nucleus
messages: Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response (PubMed:8943379, PubMed:10961885). Plays a key role in the differentiation of T-helper 1 cells and the production of interferon-gamma (PubMed:12213961, PubMed:35614130). Participates also in multiple neutrophil functions including chemotaxis and production of the neutrophil extracellular traps (By similarity). After IL12 binding to its receptor IL12RB2, STAT4 interacts with the intracellular domain of IL12RB2 and becomes tyrosine phosphorylated (PubMed:7638186, PubMed:10415122). Phosphorylated STAT4 then homodimerizes and migrates to the nucleus where it can recognize STAT target sequences present in IL12 responsive genes. Although IL12 appears to be the predominant activating signal, STAT4 can also be phosphorylated and activated in response to IFN-gamma stimulation via JAK1 and TYK2 and in response to different interleukins including IL23, IL2 and IL35 (PubMed:11114383,PubMed:34508746). Transcription activation of IFN-gamma gene is mediated by interaction with JUN that forms a complex that efficiently interacts with the AP-1-related sequence of the IFN-gamma promoter (By similarity). In response to IFN-alpha/beta signaling, acts as a transcriptional repressor and suppresses IL5 and IL13 mRNA expression during response to T-cell receptor (TCR) activation (PubMed:26990433).
messages: Tyrosine phosphorylated upon IL12 and IFN-alpha activation, but not by IFN-gamma in T-lymphocytes and NK cells (PubMed:8943379). Serine phosphorylation is required for maximal transcriptional activity but not for DNA binding (PubMed:8943379). Phosphorylation by MAP2K6 at Ser-721 is required for full transcriptional activity induced by IL12 (PubMed:10961885). However this serine phosphorylation is not required for cell proliferation although critical for IFN-gamma production (PubMed:12213961).

9606:ELK4
gene id: 9606:ELK4
uniprot id: A0A024R985
uniprot id: A0A024R997
uniprot id: P28324
uniprot id: Q8IXL1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ETS family.
messages: Interacts with SIRT7.
messages: Involved in both transcriptional activation and repression. Interaction with SIRT7 leads to recruitment and stabilization of SIRT7 at promoters, followed by deacetylation of histone H3 at 'Lys-18' (H3K18Ac) and subsequent transcription repression. Forms a ternary complex with the serum response factor (SRF). Requires DNA-bound SRF for ternary complex formation and makes extensive DNA contacts to the 5'side of SRF, but does not bind DNA autonomously.
messages: Nucleus

9606:IL15RA
gene id: 9606:IL15RA
uniprot id: A0A0A0MS77
uniprot id: G8CVM3
uniprot id: Q13261
names: Caution
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A soluble form (sIL-15RA) arises from proteolytic shedding of the membrane-anchored receptor (PubMed:15265897). It also binds IL-15 and thus interferes with IL-15 binding to the membrane receptor (PubMed:15265897).
messages: Cell surface
messages: Cytoplasmic vesicle membrane
messages: Does not bind IL15.
messages: Endoplasmic reticulum membrane
messages: Expressed in neutrophils (at protein level) (PubMed:15123770). Expressed in fetal brain with higher expression in the hippocampus and cerebellum than in cortex and thalamus (PubMed:12114302). Higher levels of soluble sIL-15RA form in comparison with membrane-bound forms is present in all brain structures (PubMed:12114302). Isoforms 1, 3, 4, 5, 6, 7, 8 and 9: Widely expressed (PubMed:10480910, PubMed:8530383).
messages: Golgi apparatus membrane
messages: High-affinity receptor for interleukin-15 (PubMed:8530383). Can signal both in cis and trans where IL15R from one subset of cells presents IL15 to neighboring IL2RG-expressing cells (By similarity). In neutrophils, binds and activates kinase SYK in response to IL15 stimulation (PubMed:15123770). In neutrophils, required for IL15-induced phagocytosis in a SYK-dependent manner (PubMed:15123770). Expression of different isoforms may alter or interfere with signal transduction (PubMed:10480910).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: N-glycosylated and O-glycosylated.
messages: Nucleus membrane
messages: The interleukin-15 receptor IL15R is a heterotrimer of IL15RA, IL2RB and IL2RG. IL15RA also self-associates (PubMed:17643103). Interacts with SYK (PubMed:15123770).
messages: extracellular space

9606:WFDC13
gene id: 9606:WFDC13
uniprot id: Q8IUB5
names: Function
names: Subcellular Location Annotation
messages: Putative acid-stable proteinase inhibitor.
messages: Secreted

9606:H2BW2
gene id: 9606:H2BW2
uniprot id: P0C1H6
uniprot id: W0TYI6
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the histone H2B family.
messages: Chromosome
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: In contrast to other H2B histones, it does not contain the conserved residue in C-terminus that is the target of monoubiquitination.
messages: Nucleus
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.

9606:PLEKHA2
gene id: 9606:PLEKHA2
uniprot id: Q9HB19
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds MPDZ and PTPN13.
messages: Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity).
messages: Cell membrane
messages: Cytoplasm
messages: Highly expressed in heart, kidney, spleen and peripheral blood leukocytes. Detected at lower levels in brain, skeletal muscle, colon, thymus, liver, small intestine, placenta and lung.
messages: Nucleus

9606:PIK3C2G
gene id: 9606:PIK3C2G
uniprot id: B7ZLY6
uniprot id: F5H369
uniprot id: O75747
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the PI3/PI4-kinase family.
messages: Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.
messages: Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers (By similarity). May play a role in SDF1A-stimulated chemotaxis (By similarity).
messages: Highly expressed in liver, prostate and testis. Lower levels in small intestine, kidney and pancreas.
messages: Membrane

9606:PHLDA2
gene id: 9606:PHLDA2
uniprot id: Q53GA4
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the PHLDA2 family.
messages: Cytoplasm
messages: Expressed in placenta and adult prostate gland. In placenta, it is present in all cells of the villous cytotrophoblast. The protein is absent in cells from hydatidiform moles. Hydatidiform mole is a gestation characterized by abnormal development of both fetus and trophoblast. The majority of hydatidiform moles are associated with an excess of paternal to maternal genomes and are likely to result from the abnormal expression of imprinted genes (at protein level). Expressed at low levels in adult liver and lung, and fetal liver. Expressed in adult brain and neuroblastoma, medullablastoma and glioblastoma cell lines.
messages: Maternal PHLDA2 allele is activated, while paternal Phlda2 is repressed due to genomic imprinting. Down-regulated by hypoxia. Although highly similar to PHLDA3 protein, it is not regulated by p53/TP53.
messages: Membrane
messages: Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity).
messages: The PH domain binds phosphoinositides with a broad specificity. It may compete with the PH domain of some other proteins, thereby interfering with their binding to phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3) (By similarity).
messages: The PHLDA2 locus is imprinted. Loss of imprinting results in overexpression. Imprinting is dependent on RNAi machinery.

9606:ASF1A
gene id: 9606:ASF1A
uniprot id: Q9Y294
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ASF1 family.
messages: Chromosome
messages: Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly (PubMed:10759893, PubMed:11897662, PubMed:12842904, PubMed:14718166, PubMed:15664198, PubMed:16151251, PubMed:21454524). Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly (PubMed:11897662, PubMed:14718166, PubMed:15664198). Promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks: acts by mediating histone replacement at DSBs, leading to recruitment of the MMS22L-TONSL complex and subsequent loading of RAD51 (PubMed:29478807). Also involved in the nuclear import of the histone H3-H4 dimer together with importin-4 (IPO4): specifically recognizes and binds newly synthesized histones with the monomethylation of H3 'Lys-9' and acetylation at 'Lys-14' (H3K9me1K14ac) marks, and diacetylation at 'Lys-5' and 'Lys-12' of H4 (H4K5K12ac) marks in the cytosol (PubMed:21454524, PubMed:29408485). Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit (PubMed:15621527).
messages: Interacts with histone H3 (including both histone H3.1 and H3.3) and histone H4 (PubMed:10759893, PubMed:12842904, PubMed:14718166, PubMed:15664198, PubMed:33857403, PubMed:15840725). Interacts with the CHAF1A, CHAF1B and RBBP4 subunits of the CAF-1 complex (PubMed:11897662, PubMed:16980972). Interacts with CABIN1, HAT1, HIRA, NASP, TAF1 and UBN1 (PubMed:12093919, PubMed:14680630, PubMed:14718166, PubMed:15621527, PubMed:16980972, PubMed:19029251). Interacts with CDAN1 (PubMed:22407294). Found in a cytosolic complex with IPO4 and histones H3 and H4 (PubMed:21454524, PubMed:22407294). Interacts with CREBBP (PubMed:24616510).
messages: Nucleus
messages: Phosphorylated by TLK1 and TLK2 (PubMed:11470414, PubMed:20016786, PubMed:35136069). Highly phosphorylated in S-phase and at lower levels in M-phase (PubMed:11470414). TLK2-mediated phosphorylation at Ser-192 prevents proteasome-dependent degradation (PubMed:20016786). Phosphorylation at Ser-192 by PRKDC in response to DNA damage promotes the histone chaperone activity and ability to replace histones at double-strand breaks (DSBs) at stalled or collapsed replication forks, leading to RAD51 recruitment (PubMed:29478807).
messages: Ubiquitously expressed.

9606:SETD3
gene id: 9606:SETD3
uniprot id: A0A024R6K3
uniprot id: Q86TU7
names: Caution
names: Developmental Stage
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily. SETD3 actin-histidine methyltransferase family.
messages: Cytoplasm
messages: Interacts with MYOD1.
messages: Nucleus
messages: Phosphorylated by GSK3B, which is required for recognition by the SCF(FBXW7) complex and subsequent degradation.
messages: Protein levels peak in S phase and are lowest during M phase (at protein level).
messages: Protein-histidine N-methyltransferase that specifically mediates 3-methylhistidine (tele-methylhistidine) methylation of actin at 'His-73' (PubMed:30526847, PubMed:30626964, PubMed:30785395, PubMed:31388018, PubMed:31993215). Histidine methylation of actin is required for smooth muscle contraction of the laboring uterus during delivery (PubMed:30626964). Does not have protein-lysine N-methyltransferase activity and probably only catalyzes histidine methylation of actin (PubMed:30626964, PubMed:30785395, PubMed:31388018).
messages: Shows protein-methionine methyltransferase activity in vitro on an actin mutant with a Met instead of a His residue at position 73.
messages: The SET domain specifically recognizes and binds actin, suggesting that it does not accommodate substrates diverging from actin.
messages: Ubiquitinated by the SCF(FBXW7) complex following phosphorylation by GSK3B, leading to its degradation by the proteasome.
messages: Was initially reported to have histone methyltransferase activity and methylate 'Lys-4' and 'Lys-36' of histone H3 (H3K4me and H3K36me) (By similarity). However, this conclusion was based on mass spectrometry data wherin mass shifts were inconsistent with a bona fide methylation event (PubMed:30626964). In vitro, the protein-lysine methyltransferase activity is weak compared to the protein-histidine methyltransferase activity (PubMed:30526847).

9606:GIGYF2
gene id: 9606:GIGYF2
uniprot id: Q6Y7W6
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subunit
messages: Belongs to the GIGYF family.
messages: Component of the 4EHP-GYF2 complex, at least composed of EIF4E2, GIGYF2 and ZNF598 (PubMed:22751931, PubMed:31439631). Interacts (via the 4EHP-binding motif) with EIF4E2; the interaction is direct (PubMed:22751931, PubMed:31439631). Interacts with ZFP36/TTP (via P-P-P-P-G repeats); the interaction is direct (PubMed:31439631). Interacts with GRB10 (By similarity). Interacts (via DDX6 motif) with DDX6 (via RecA-like domain 2) (PubMed:31439631).
messages: Disease susceptibility may be associated with variants affecting the gene represented in this entry. Its association with Parkinson disease is however unclear. According to a number of studies, variations affecting this gene are not a frequent cause of Parkinson disease, suggesting that GIGYF2 does not play a major role in Parkinson disease etiology (PubMed:19279319, PubMed:19429085, PubMed:19638301, PubMed:19482505, PubMed:20004041, PubMed:19321232, PubMed:20060621).
messages: Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:31439631). In the 4EHP-GYF2 complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (PubMed:31439631). Also recruits and bridges the association of the 4EHP complex with the decapping effector protein DDX6, which is required for the ZFP36/TTP-mediated down-regulation of AU-rich mRNA (PubMed:31439631). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153).
messages: Unlikely isoform.

9606:CDO1
gene id: 9606:CDO1
uniprot id: Q16878
names: Cofactor
names: Function
names: Induction
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the cysteine dioxygenase family.
messages: Binds 1 Fe(2+) cation per subunit. Zn(2+) can be used to a much lesser extent (PubMed:17135237). Ni(2+) can be used to a lesser extent (By similarity).
messages: Catalyzes the oxidation of cysteine to cysteine sulfinic acid with addition of molecular dioxygen.
messages: Highly expressed in liver and placenta. Low expression in heart, brain and pancreas. Also detected in hepatoblastoma Hep-G2 cells.
messages: In hepatoblastoma Hep-G2 cells, down-regulated by phorbol 12-myristate 13-acetate (PMA).
messages: Monomer.
messages: The thioether cross-link between Cys-93 and Tyr-157 plays a structural role through stabilizing the Fe(2+) ion, and prevents the production of highly damaging free hydroxyl radicals by holding the oxygen radical via hydroxyl hydrogen.

9606:ZC3H7A
gene id: 9606:ZC3H7A
uniprot id: Q8IWR0
names: Function
names: Subcellular Location Annotation
messages: May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 3'-ATA(A/T)-5' motif in the apical loop.
messages: Nucleus

9606:SDC1
gene id: 9606:SDC1
uniprot id: P18827
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the syndecan proteoglycan family.
messages: Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413).
messages: Interacts with CDCP1. Interacts (via C-terminus) with TIAM1 (via PDZ domain). Interacts with MDK (By similarity).
messages: Membrane
messages: Secreted
messages: Shedding is enhanced by a number of factors such as heparanase, thrombin or EGF. Also by stress and wound healing. PMA-mediated shedding is inhibited by TIMP3.
messages: extracellular exosome

9606:NPAS1
gene id: 9606:NPAS1
uniprot id: Q99742
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Efficient DNA binding requires dimerization with another bHLH protein. Interacts with ARNT; forms a heterodimer that binds core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) leading to a transcriptional repressor on its target gene TH (By similarity).
messages: May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity). Forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (By similarity).
messages: Nucleus

9606:CPVL
gene id: 9606:CPVL
uniprot id: A0A024RA40
uniprot id: Q9H3G5
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the peptidase S10 family.
messages: Expressed in macrophages but not in other leukocytes. Abundantly expressed in heart and kidney. Also expressed in spleen, leukocytes, and placenta.
messages: May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.

9606:OSTM1
gene id: 9606:OSTM1
uniprot id: Q86WC4
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the OSTM1 family.
messages: Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.
messages: Highly N-glycosylated.
messages: Lysosome membrane
messages: Required for osteoclast and melanocyte maturation and function.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein.

9606:TRIM47
gene id: 9606:TRIM47
uniprot id: Q96LD4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TRIM/RBCC family.
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD.
messages: Low expression in most tissues. Higher expression in kidney tubular cells. Overexpressed in astrocytoma tumor cells.
messages: Nucleus

9606:CHRDL1
gene id: 9606:CHRDL1
uniprot id: Q9BU40
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development.
messages: By hypoxia in retinal pericytes.
messages: Expressed in the developing cornea and in the eye anterior segment in addition to the retina. Differentially expressed in the fetal brain. There is high expression in cerebellum and neocortex. Expressed in retinal pericytes.
messages: It is uncertain whether Met-1 or Met-7 is the initiator.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:OAS3
gene id: 9606:OAS3
uniprot id: A0A7P0T9J0
uniprot id: Q9Y6K5
names: Activity Regulation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the 2-5A synthase family.
messages: By type I interferon (IFN) and viruses.
messages: Cytoplasm
messages: Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes preferentially dimers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. Displays antiviral activity against Chikungunya virus (CHIKV), Dengue virus, Sindbis virus (SINV) and Semliki forest virus (SFV).
messages: Monomer.
messages: Nucleus
messages: OAS domain 3 is catalytically active. OAS domain 1 has no catalytic activity but is essential for recognition of long dsRNAs.
messages: Present at high level in placenta trophoblast.
messages: Produced as a latent enzyme which is activated by dsRNA generated during the course of viral infection (Probable). Strongly activated by long dsRNAs at least 50 nucleotides in length (PubMed:25775560). ssRNA does not activate the enzyme (PubMed:25775560).

9606:POLR1H
gene id: 9606:POLR1H
uniprot id: Q2L6J2
uniprot id: Q9P1U0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family.
messages: Belongs to the archaeal rpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family.
messages: Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits.
messages: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors.
messages: nucleolus

9606:GPR87
gene id: 9606:GPR87
uniprot id: Q9BY21
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: By expression of p53/TP53 and by DNA damage in a TP53-dependent manner.
messages: Cell membrane
messages: Expressed in placenta and prostate. Weaker expression in thymus. Not expressed in thalamus, hippocampus, pons or cerebellum. Overexpressed in squamous cell carcinoma of the lung.
messages: Receptor for lysophosphatidic acid (LPA). Necessary for p53/TP53-dependent survival in response to DNA damage.

9606:TUT7
gene id: 9606:TUT7
uniprot id: Q5VYS8
uniprot id: X6R3Q3
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DNA polymerase type-B-like family.
messages: Cytoplasm
messages: Interacts with MOV10; the interaction is RNA-dependent.
messages: Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:19703396, PubMed:25480299). Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets (PubMed:25480299). Also functions as an integral regulator of microRNA biogenesiS using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7). Uridylated pre-let-7 RNA is not processed by Dicer and undergo degradation. Pre-let-7 uridylation is strongly enhanced in the presence of LIN28A (PubMed:22898984). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3' end overhang for efficient processing (PubMed:25979828, PubMed:28671666). Add oligo-U tails to truncated pre-miRNAS with a 5' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (PubMed:25979828, PubMed:25480299, PubMed:19703396, PubMed:22898984, PubMed:18172165, PubMed:28671666). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein …
messages: Utilizes two multidomain functional modules during the switch from monouridylation to oligouridylation. The catalytic module (containing the 3 CCHC-type Zinc finger domains) is essential for both activities while the Lin28-interacting module (LIM) at the N-termail part is indispensable for oligouridylation.

9606:POU2F3
gene id: 9606:POU2F3
uniprot id: Q9UKI9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the POU transcription factor family. Class-2 subfamily.
messages: Interacts with POU2AF1 and POU2AF2 in a DNA-dependent manner; this interaction increases POU2F3 transactivation activity.
messages: Nucleus
messages: Specifically expressed in epidermis and cultured keratinocytes.
messages: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and regulates cell type-specific differentiation pathways. Involved in the regulation of keratinocytes differentiation (PubMed:11329378). The POU2F3-POU2AF2/POU2AF3 complex drives the expression of tuft-cell-specific genes, a rare chemosensory cells that coordinate immune and neural functions within mucosal epithelial tissues (PubMed:35576971).

9606:STK19
gene id: 9606:STK19
uniprot id: P49842
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the STK19 family.
messages: Divalent metal cations. Has a preference for Mn(2+).
messages: Gain-of-function variants in STK19 are involved in NRAS-driven melanomagenesis (PubMed:30712867). Melanoma are malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites (PubMed:30712867). Conditional knockin mice overexpressing Asn-89 variant exhibit hyperpigmentation of the skin, ears, and tail, and the melanin content in skin was significantly increased after tamoxifen induction (PubMed:30712867). Moreover, knockin mice overexpressing Asn-89 variant promote NRAS 'Arg-61'-driven melanomagenesis (PubMed:30712867).
messages: Interacts (via N-terminus) with BAG1.
messages: Monocytes, hepatocytes, epithelial cells, T- and B-lymphocytes.
messages: Nucleus
messages: Serine/threonine-protein kinase that acts as a key regulator of NRAS signaling by mediating phosphorylation of NRAS at 'Ser-89', thereby enhancing NRAS-binding to its downstream effectors.
messages: Specifically inhibited by ZT-12-037-01 (1a) (N2-cyclopropyl-N4-(1-isopropylpiperidin-4-yl)- 6,7-dimethoxyquinazoline-2,4-diamine) (PubMed:30712867). Inhibition by ZT-12-037-01 (1a) blocks oncogenic NRAS-driven melanocyte malignant transformation and melanoma growth (PubMed:30712867).

9606:OR11L1
gene id: 9606:OR11L1
uniprot id: Q8NGX0
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:MARCHF2
gene id: 9606:MARCHF2
uniprot id: Q9P0N8
names: Domain
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Induced by HIV-1 infection.
messages: (Microbial infection) Positively regulates the degradation of Vesicular stomatitis virus (VSV) G protein via the lysosomal degradation pathway (PubMed:29573664). Represses HIV-1 viral production and may inhibit the translocation of HIV-1 env to the cell surface, resulting in decreased viral cell-cell transmission (PubMed:29573664).
messages: Broadly expressed.
messages: Cell membrane
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates (PubMed:14722266, PubMed:16428329). Together with GOPC/CAL mediates the ubiquitination and lysosomal degradation of CFTR (PubMed:23818989). Ubiquitinates and therefore mediates the degradation of DLG1 (PubMed:17980554). Regulates the intracellular trafficking and secretion of alpha1-antitrypsin/SERPINA1 and HP/haptoglobin via ubiquitination and degradation of the cargo receptor ERGIC3 (PubMed:31142615). Negatively regulates the antiviral and antibacterial immune response by repression of the NF-kB and type 1 IFN signaling pathways, via MARCHF2-mediated K48-linked polyubiquitination of IKBKG/NEMO, resulting in its proteosomal degradation (PubMed:32935379). May be involved in endosomal trafficking through interaction with STX6 (PubMed:15689499).
messages: Endoplasmic reticulum membrane
messages: Endosome membrane
messages: Golgi apparatus membrane
messages: Interacts with STX6; the interaction promotes MARCHF2-mediated ubiquitination and degradation of CFTR (PubMed:23818989). Interacts with MARCHF3 (PubMed:16428329). Interacts with GOPC/CAL; the interaction leads to CFTR ubiquitination and degradation (PubMed:23818989). Interacts with CFTR; the interaction leads to CFTR ubiqtuitination and degradation (PubMed:23818989). Interacts (via PDZ domain) with DLG1 (via PDZ domains); the interaction leads to DLG1 ubiqtuitination and degradation (PubMed:17980554). Interacts with ERGIC3 (PubMed:31142615). Interacts with ADRB2 (PubMed:23166351). Interacts with IKBKG/NEMO; during the late stages of macrophage viral and bacterial infection; the interaction leads to ubiquitination and degradation of IKBKG/NEMO (PubMed:32935379).
messages: Lysosome membrane
messages: The RING-CH-type zinc finger domain is required for E3 ligase activity.

9606:KRTAP15-1
gene id: 9606:KRTAP15-1
uniprot id: Q3LI76
names: Function
names: Similarity
names: Subunit
messages: Belongs to the PMG family.
messages: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
messages: Interacts with hair keratins.

9606:SHROOM3
gene id: 9606:SHROOM3
uniprot id: B3KY47
uniprot id: Q8TF72
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Apical cell membrane
messages: Belongs to the shroom family.
messages: Controls cell shape changes in the neuroepithelium during neural tube closure. Induces apical constriction in epithelial cells by promoting the apical accumulation of F-actin and myosin II, and probably by bundling stress fibers (By similarity). Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity).
messages: Interacts with F-actin (By similarity). Interacts with ROCK1 (PubMed:22493320).
messages: It is uncertain whether Met-1 or Met-2 is the initiator. Met-2 is more conserved than Met-1 among the orthologs.
messages: The ASD1 domain mediates F-actin binding.
messages: The ASD2 domain mediates the interaction with ROCK1 and is required for apical constriction induction.
messages: adherens junction
messages: cytoskeleton

9606:KLK1
gene id: 9606:KLK1
uniprot id: P06870
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Tissue Specificity
messages: (Microbial infection) Cleaves Neisseria meningitidis NHBA in saliva; Neisseria is an obligate commensal of the nasopharyngeal mucosa.
messages: Belongs to the peptidase S1 family. Kallikrein subfamily.
messages: Genetic variations in KLK1 are the cause of a decreased in urinary kallikrein activity [MIM:615953]. The His-77 mutation dramatically reduces the activity of the enzyme in the urine. There is a 50 to 60% reduction in urinary kallikrein activity in His-77 individuals, but renal and hormonal adaptation to dietary changes in sodium and potassium are unaffected. However, in studies of brachial artery function, His-77 individuals consistently exhibited an increase in wall shear stress and a paradoxical reduction in artery diameter and lumen compared to Arg-77 individuals. This partial genetic deficiency in kallikrein activity is associated with a form of arterial dysfunction involving inappropriate inward remodeling of the brachial artery despite a chronic increase in shear stress.
messages: Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.
messages: Isoform 2 is expressed in pancreas, salivary glands, kidney, colon, prostate gland, testis, spleen and the colon adenocarcinoma cell line T84.
messages: The O-linked polysaccharides on Ser-93, Ser-104 and Ser-167 are probably the mucin type linked to GalNAc. In PubMed:3163150, GalNAc was detected with the corresponding peptides but not located.

9606:PSMB1
gene id: 9606:PSMB1
uniprot id: A0A140VK45
uniprot id: P20618
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HIV-1 protein Tat.
messages: Belongs to the peptidase T1B family.
messages: Component of the proteasome complex.
messages: Component of the proteasome, a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity.
messages: Cytoplasm
messages: Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).
messages: Nucleus
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits (PubMed:25599644, PubMed:26133119, PubMed:27342858, PubMed:27428775, PubMed:27493187, PubMed:34711951). The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings (PubMed:25599644, PubMed:26133119, PubMed:27342858, PubMed:27428775, PubMed:27493187, PubMed:34711951). The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits (PubMed:25599644, PubMed:26133119, PubMed:27342858, PubMed:27428775, PubMed:27493187, PubMed:34711951). The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7 (PubMed:25599644, PubMed:26133119, PubMed:27342858, PubMed:27428775, PubMed:27493187, PubMed:34711951). Interacts with SERPINB2 (PubMed:14732874). Interacts with RFPL4A (By similarity).

9606:ASCC2
gene id: 9606:ASCC2
uniprot id: Q9H1I8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ASCC2 family.
messages: Identified in the ASCC complex that contains ASCC1, ASCC2 and ASCC3 (PubMed:29144457, PubMed:29997253). Interacts directly with ASCC3 (PubMed:29997253, PubMed:32099016). The ASCC complex interacts with ALKBH3 (PubMed:29144457, PubMed:22055184). Interacts (via CUE domain) with 'Lys-63'-linked polyubiquitin chains, but not with 'Lys-48'-linked polyubiquitin chains (PubMed:29144457). Part of the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3 (PubMed:12077347). Component of the RQT (ribosome quality control trigger) complex, that contains ASCC2, ASCC3 and TRIP4 (PubMed:32099016). Interacts with TRIP4 (PubMed:32099016). Interacts with CSRP1 (PubMed:26924529). Interacts with PRPF8, a component of the spliceosome (PubMed:29144457). Interacts with ZCCHC4 (PubMed:31799605).
messages: Nucleus
messages: Nucleus speckle
messages: Plays a role in DNA damage repair as component of the ASCC complex. Recruits ASCC3 and ALKBH3 to sites of DNA damage by binding to polyubiquitinated proteins that have 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). Involved in activation of the ribosome quality control (RQC) pathway, a pathway that degrades nascent peptide chains during problematic translation (PubMed:32099016). As part of the ribosome quality control trigger (RQT) complex, recognizes ZNF598-dependent ubiquitination of stalled ribosomes (By similarity).
messages: Ubiquitous.

9606:ADAMTS14
gene id: 9606:ADAMTS14
uniprot id: Q8WXS8
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in retina and at low levels in brain, lung and placenta (PubMed:11779638). High expression in fetal tissues (PubMed:11867212).
messages: Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Can also be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
messages: Has aminoprocollagen type I processing activity in the absence of ADAMTS2 (PubMed:11741898). Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity (PubMed:11741898). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form (PubMed:31152061).
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform A.
messages: Produced by alternative splicing of isoform B.
messages: The precursor is cleaved by a furin endopeptidase.
messages: The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
messages: extracellular matrix

9606:SHQ1
gene id: 9606:SHQ1
uniprot id: Q6PI26
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SHQ1 family.
messages: Directly interacts with DKC1 alone, but not in the context of the core trimer composed of DKC1, NOP10 and NHP2, nor in the presence of NAF1. Does not interact with NAF1.
messages: Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.
messages: cytosol
messages: nucleoplasm

9606:RBPJ
gene id: 9606:RBPJ
uniprot id: Q06330
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Su(H) family.
messages: Cytoplasm
messages: Despite some similarity with the 'phage' integrase family, it has no recombinase activity.
messages: Interacts with activated NOTCH1, NOTCH2 or NOTCH3. Interacts with MINT/SHARP. This interaction may mediate the recruitment of large corepressor complexes containing proteins such as HDAC1, HDAC2, NCOR2, SAP30, FHL1/KYOT2 and CIR1. Interacts with EP300, MAML1 and PTF1A. Interacts with Epstein-Barr virus EBNA2, EBNA3, EBNA4 and EBNA6. Interacts with RITA1/C12orf52, leading to nuclear export, prevent the interaction between RBPJ and NICD product and subsequent down-regulation of the Notch signaling pathway. Interacts with SNW1. Interacts with CHCHD2 and CXXC5 (PubMed:23303788). Interacts with BEND6 (via BEN domain). Interacts with NKAPL (By similarity). Interacts with ZMIZ1. Interacts with RBM15 (By similarity).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA (PubMed:21991380). Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity).

9606:OGFRL1
gene id: 9606:OGFRL1
uniprot id: A0A3B3IRI0
uniprot id: Q5TC84
names: Similarity
names: Tissue Specificity
messages: Belongs to the opioid growth factor receptor family.
messages: Ubiquitous.

9606:GRIK4
gene id: 9606:GRIK4
uniprot id: A0A8D9PH79
uniprot id: A0A8D9UJ88
uniprot id: A6H8K8
uniprot id: B2RAP6
uniprot id: Q16099
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK4 subfamily.
messages: Cell membrane
messages: Forms a heteromeric channel with GRIK1 or GRIK3.
messages: Membrane
messages: Postsynaptic cell membrane
messages: Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system.
messages: Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists.

9606:RETREG2
gene id: 9606:RETREG2
uniprot id: Q8NC44
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RETREG family.
messages: Endoplasmic reticulum (ER)-anchored autophagy regulator which exists in an inactive state under basal conditions but is activated following cellular stress (PubMed:34338405). When activated, induces ER fragmentation and mediates ER delivery into lysosomes through sequestration into autophagosomes via interaction with ATG8 family proteins (PubMed:34338405). Required for collagen quality control in a LIR motif-independent manner (By similarity).
messages: Endoplasmic reticulum membrane
messages: Interacts with ATG8 family modifier proteins MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAP, GABARAPL1 and GABARAPL2 (PubMed:26040720, PubMed:34338405, PubMed:34854256). Shows higher affinity for GABARAPL1 than for MAP1LC3B (PubMed:34854256). Interacts with CANX (PubMed:34338405).
messages: The LIR motif interacts with ATG8 family proteins.

9606:CCN1
gene id: 9606:CCN1
uniprot id: O00622
uniprot id: Q6FI18
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CCN family.
messages: Interaction with integrins is heparin- and cell-type-dependent and promotes cell adhesion. In skin fibroblasts it binds ITGA6/ITGB1, in endothelial cells, binds ITGAV/ITGB3 and in platelets, ITGA2B/ITGB3. Binds, in vitro, ITGAV/ITGB5.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. Appears to play a role in wound healing by up-regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 and integrins alpha-3 and alpha-5. CCN1-mediated gene regulation is dependent on heparin-binding. Down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1. Promotes cell adhesion and adhesive signaling through integrin alpha-6/beta-1, cell migration through integrin alpha-v/beta-5 and cell proliferation through integrin alpha-v/beta-3.
messages: Secreted

9606:GLO1
gene id: 9606:GLO1
uniprot id: Q04760
uniprot id: X5DNM4
names: Activity Regulation
names: Cofactor
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subunit
messages: Belongs to the glyoxalase I family.
messages: Binds 1 zinc ion per subunit. In the homodimer, two zinc ions are bound between subunits.
messages: Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione (PubMed:20454679, PubMed:9705294, PubMed:23122816). Involved in the regulation of TNF-induced transcriptional activity of NF-kappa-B (PubMed:19199007). Required for normal osteoclastogenesis (By similarity).
messages: Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione.
messages: Exists in a nitric oxide (NO)-modified form. The exact nature of the modification is unknown, but it suppresses the TNF-induced transcriptional activity of NF-kappa-B.
messages: Exists in three separable isoforms which originate from two alleles in the genome. These correspond to two homodimers and one heterodimer composed of two subunits showing different electrophoretic properties.
messages: Glutathionylation at Cys-139 inhibits enzyme activity.
messages: Homodimer.
messages: Phosphorylated at Thr-107 in the presence of CaMK2. However, this is a consensus site for phosphorylation by CK2 so phosphorylation may be mediated by CK2 rather than CaMK2. Phosphorylation is induced by TNF and suppresses the TNF-induced transcriptional activity of NF-kappa-B.
messages: Regulated by oxidation of Cys-139 in response to the redox state of the cell. Results in the alternative formation of cystine or glutathione-bound cysteine, the latter modification leading to reduced enzyme activity.

9606:ZSCAN2
gene id: 9606:ZSCAN2
uniprot id: A0A024RC69
uniprot id: Q7Z7L9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation during the post-meiotic stages of spermatogenesis.
messages: Nucleus

9606:ECHS1
gene id: 9606:ECHS1
uniprot id: P30084
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the enoyl-CoA hydratase/isomerase family.
messages: Converts unsaturated trans-2-enoyl-CoA species ((2E)-enoyl-CoA) to the corresponding (3S)-3hydroxyacyl-CoA species through addition of a water molecule to the double bond (PubMed:25125611, PubMed:26251176). Catalyzes the hydration of medium- and short-chained fatty enoyl-CoA thioesters from 4 carbons long (C4) up to C16 (PubMed:26251176). Has high substrate specificity for crotonyl-CoA ((2E)-butenoyl-CoA) and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA (3-methyl-(2E)-butenoyl-CoA) and methacrylyl-CoA ((2E)-2-methylpropenoyl-CoA) (PubMed:26251176). Can bind tiglyl-CoA (2-methylcrotonoyl-CoA), but hydrates only a small amount of this substrate (PubMed:26251176). Plays a key role in the beta-oxidation spiral of short- and medium-chain fatty acid oxidation (PubMed:25125611, PubMed:26251176). At a lower rate than the hydratase reaction, catalyzes the isomerase reaction of trans-3-enoyl-CoA species (such as (3E)-hexenoyl-CoA) to trans-2-enoyl-CoA species (such as (2E)-hexenoyl-CoA), which are subsequently hydrated to 3(S)-3-hydroxyacyl-CoA species (such as (3S)-hydroxyhexanoyl-CoA) (By similarity).
messages: Homohexamer; dimer of trimers.
messages: Liver, fibroblast, muscle. Barely detectable in spleen and kidney.
messages: Mitochondrion matrix
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:BGLAP
gene id: 9606:BGLAP
uniprot id: P02818
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the osteocalcin/matrix Gla protein family.
messages: Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium.
messages: Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium.
messages: Secreted

9606:PHF19
gene id: 9606:PHF19
uniprot id: A0A087X169
uniprot id: B7Z887
uniprot id: B7Z8H3
uniprot id: F5H8K3
uniprot id: Q5T6S3
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with the PRC2 complex, which consists of the core components EED, EZH1 or EZH2, SUZ12, and RBBP4, and various combinations of accessory subunits including AEBP2, JARID2, PHF19, MTF2 and EPOP (PubMed:23104054, PubMed:29499137, PubMed:31959557). Forms a dimeric PRC2.1 (class 1, PRC-PCL) complex consisting of at least SUZ12, RBBP4, and PHF19 or MTF2; PHF19 and MTF2 stabilize the dimeric structure which enhances PRC2 interaction with chromatin (PubMed:31959557). Interacts with SUZ12; competes with AEBP2 for SUZ12 binding (PubMed:29499137, PubMed:31959557). Interacts with EZH2 (via its Tudor domain) (PubMed:21143197). Isoform 1 interacts with SUZ12; isoform 2 does not interact with SUZ12 (PubMed:23104054). Interacts with RIOX1 (PubMed:23160351).
messages: Belongs to the Polycomblike family.
messages: Down-regulated in spheroid melanoma cells that display an invasive phenotype, characterized by a higher motility, a poor proliferation rate and a gain of pluripotency gene expression. PHF19 favors the proliferation and reduces the transmigration capacity of melanoma cell lines, 2 properties of invasive cells, suggesting that down-regulation may participate in the switch from proliferative to invasive states in melanoma cells (PubMed:22487681).
messages: Isoform 1 is expressed in thymus, heart, lung and kidney. Isoform 2 is predominantly expressed in placenta, skeletal muscle and kidney, whereas isoform 1 is predominantly expressed in liver and peripheral blood leukocytes. Overexpressed in many types of cancers, including colon, skin, lung, rectal, cervical, uterus, liver cancers, in cell lines derived from different stages of melanoma and in glioma cell lines.
messages: Nucleus
messages: Polycomb group (PcG) protein that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex, thus enhancing PRC2 H3K27me3 methylation activity (PubMed:15563832, PubMed:18691976, PubMed:23160351, PubMed:23228662, PubMed:23273982, PubMed:29499137, PubMed:23104054, PubMed:31959557). Probably involved in the transition from an active state to a repressed state in embryonic stem cells: acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting H3K36me3 histone demethylases RIOX1 or KDM2B, leading to demethylation of H3K36 and recruitment of the PRC2 complex that mediates H3K27me3 methylation, followed by de novo silencing (PubMed:23160351). Recruits the PRC2 complex to CpG islands and contributes to embryonic stem cell self-renewal. Also binds histone H3 dimethylated at 'Lys-36' (H3K36me2) (PubMed:23104054). Isoform 1 and isoform 2 inhibit transcription from an HSV-tk promoter (PubMed:15563832).
messages: The Tudor domain recognizes and binds H3K36me3 (PubMed:23273982, PubMed:23160351, PubMed:23104054 and PubMed:23228662). May also bind H3K27me3, with a lower affinity (PubMed:23160351).

9606:SGCZ
gene id: 9606:SGCZ
uniprot id: Q08AT0
uniprot id: Q96LD1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the sarcoglycan beta/delta/gamma/zeta family.
messages: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. May play a role in the maintenance of striated muscle membrane stability (By similarity).
messages: cytoskeleton
messages: sarcolemma

9606:TTL
gene id: 9606:TTL
uniprot id: Q8NG68
names: Function
names: Similarity
names: Subunit
messages: Belongs to the tubulin--tyrosine ligase family.
messages: Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin.
messages: Monomer.

9606:USP42
gene id: 9606:USP42
uniprot id: Q9H9J4
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the peptidase C19 family.
messages: Broadly expressed.
messages: Deubiquitinating enzyme which may play an important role during spermatogenesis.

9606:FGD4
gene id: 9606:FGD4
uniprot id: B7Z493
uniprot id: B7Z8F9
uniprot id: E9PJX4
uniprot id: F8W1R0
uniprot id: Q49A55
uniprot id: Q96M96
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity).
messages: Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.
messages: Homooligomer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The part of the protein spanning the actin filament-binding domain together with the DH domain and the first PH domain is necessary and sufficient for microspike formation. Activation of MAPK8 requires the presence of all domains with the exception of the actin filament-binding domain (By similarity).
messages: cytoskeleton
messages: filopodium

9606:HES7
gene id: 9606:HES7
uniprot id: Q9BYE0
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Has a particular type of basic domain which includes a helix-interrupting proline.
messages: Nucleus
messages: The C-terminal WRPW motif is a transcriptional repression motif which is necessary for interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.
messages: Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity).

9606:SPIN2B
gene id: 9606:SPIN2B
uniprot id: A0A024R9Y9
uniprot id: Q5JZB7
uniprot id: Q9BPZ2
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SPIN/STSY family.
messages: Detected in all the examined tissues with highest expression in liver, followed by heart, stomach, kidney, skeletal muscle, placenta, and pancreas.
messages: Interacts with C11orf84/SPINDOC (PubMed:29061846).
messages: Involved in the regulation of cell cycle progression, this activity is related to the inhibition of apoptosis following the removal of essential growth factors (PubMed:12145692). Exhibits H3K4me3-binding activity (PubMed:29061846).
messages: Nucleus
messages: Overexpression in murine myeloid cell line 32Dcl3 causes G2/M arrest.

9606:EIF4EBP2
gene id: 9606:EIF4EBP2
uniprot id: A0A024QZM3
uniprot id: Q13542
names: Domain
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Belongs to the eIF4E-binding protein family.
messages: Deamidated at Asn-99 and Asn-102 to aspartate (Asp) in brain. Deamidation promotes interaction with RPTOR, subsequent phosphorylation by mTORC1 and increased translation, leading to impair kinetics of excitatory synaptic transmission. Deamidation takes place during postnatal development, when the PI3K-Akt-mTOR signaling is reduced, suggesting it acts as a compensatory mechanism to promote translation despite attenuated PI3K-Akt-mTOR signaling in neuron development. Deamidation converts Asn residues into a mixture of Asp and isoaspartate; interactions with PCMT1 is required to prevent isoaspartate accumulation and convert isoaspartate to Asp.
messages: Hypophosphorylated EIF4EBP2 interacts with EIF4E; phosphorylation of EIF4EBP2 by mTORC1 causes dissociation of the complex allowing EIF4G1/EIF4G3 to bind and consequent initiation of translation (PubMed:7935836, PubMed:24207126, PubMed:21661078, PubMed:25533957). Interacts with RPTOR; promoting phosphorylation by mTORC1 (By similarity). Interacts with PCMT1; required to prevent isoaspartate accumulation and convert isoaspartate to Asp (By similarity).
messages: Intrinsically disordered protein that undergoes folding upon phosphorylation (PubMed:25533957). Hypophosphorylated form interacts strongly with EIF4E using (1) the YXXXXLPhi motif, that undergoes a disorder-to-helix transition upon binding and (2) the secondary EIF4E binding sites (residues 78-82) (PubMed:24207126, PubMed:25533957). Phosphorylation at Thr-37 and Thr-46 induces folding of region encompassing residues from Pro-18 to Arg-62 of into a four-stranded beta-domain that sequesters the helical YXXXXLPhi motif into a buried beta-strand, blocking accessibility to EIF4E. Protein phosphorylated at Thr-37 and Thr-46 is however unstable and subsequent phosphorylation at Ser-65, Thr-70 and Ser-83 is required to stabilize the fold, decreasing affinity for EIF4E by a factor of 4000 (PubMed:24207126, PubMed:25533957).
messages: Phosphorylation at Thr-37, Thr-46, Ser-65, Thr-70 and Ser-83 is mediated by MTOR and corresponds to the hyperphosphorylated form: it abolishes binding to EIF4E by inducing folding of intrinsically disordered regions (PubMed:24207126, PubMed:25533957). First phosphorylated at Thr-37 and Thr-46 by MTOR, inducing folding of region encompassing residues from Pro-18 to Arg-62 of into a four-stranded beta-domain that sequesters the helical YXXXXLPhi motif into a partly buried beta-strand, blocking accessibility to EIF4E. Protein phosphorylated at Thr-37 and Thr-46 is however unstable and subsequent phosphorylation at Ser-65, Thr-70 and Ser-83 is required to stabilize the fold, decreasing affinity for EIF4E by a factor of 4000 (PubMed:24207126, PubMed:25533957). Phosphorylated in response to insulin, EGF and PDGF.
messages: Repressor of translation initiation involved in synaptic plasticity, learning and memory formation (By similarity). Regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form of EIF4EBP2 competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation (PubMed:25533957). EIF4EBP2 is enriched in brain and acts as a regulator of synapse activity and neuronal stem cell renewal via its ability to repress translation initiation (By similarity). Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways (By similarity).
messages: The TOS motif mediates interaction with RPTOR, leading to promote phosphorylation by mTORC1 complex.

9606:CPT1C
gene id: 9606:CPT1C
uniprot id: A0A024QZE3
uniprot id: A0A024QZI3
uniprot id: B3KU49
uniprot id: Q8TCG5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the carnitine/choline acetyltransferase family.
messages: Endoplasmic reticulum
messages: Expressed predominantly in brain and testis. Expressed in motor neurons.
messages: May play a role in lipid metabolic process.
messages: Membrane
messages: Mitochondrion outer membrane
messages: Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents, including CPT1C. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity). Interacts with ATL1 (PubMed:25751282).
messages: Synapse
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: axon
messages: dendrite

9606:BNIP1
gene id: 9606:BNIP1
uniprot id: Q12981
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with adenovirus E1B 19K protein; plays a role in the suppression of cell apoptosis by the viral protein.
messages: As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization (PubMed:15272311). Also plays a role in apoptosis (PubMed:7954800, PubMed:15272311, PubMed:23896122). It is for instance required for endoplasmic reticulum stress-induced apoptosis (PubMed:23896122). As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable).
messages: Belongs to the SEC20 family.
messages: Component of a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L and SEC22B (PubMed:15272311). Interacts directly with STX18, RINT1/TIP20L and NAPA (PubMed:15272311). Interacts with ZW10 through RINT1 (PubMed:15272311). Interacts with BCL2 (PubMed:7954800). Interacts with RNF186 (PubMed:23896122). Interacts with RNF185 (PubMed:21931693). Interacts with SQSTM1; increased by 'Lys-63'-linked polyubiquitination of BNIP1 (PubMed:21931693).
messages: Endoplasmic reticulum membrane
messages: Isoform 1 is highly expressed in heart, brain, liver skeletal muscle and pancreas. Isoform 3 is moderately expressed in placenta, lung and kidney. Isoform 4 is highly expressed in testis and small intestine.
messages: Mitochondrion membrane
messages: Polyubiquitinated (PubMed:21931693, PubMed:23896122). 'Lys-63'-linked polyubiquitination by RNF185 increases the interaction with the autophagy receptor SQSTM1 (PubMed:21931693). Undergoes 'Lys-29'- and 'Lys-63'-linked polyubiquitination by RNF186 that may regulate BNIP1 localization to the mitochondrion (PubMed:23896122).

9606:PLEKHM2
gene id: 9606:PLEKHM2
uniprot id: Q8IWE5
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with the S.typhimurium sifA protein; required for S.typhimurium infection.
messages: Cytoplasm
messages: Interacts with KLC2 (via TPR repeats) (Probable). Interacts with KIF5B (PubMed:15905402). Interacts with BORCS5 (PubMed:25898167). Interacts (via RUN domain) with ARL8B (GTP-bound form); PLEKHM1 and PLEKHM2 compete for interaction with ARL8B (PubMed:28325809, PubMed:22172677). Interacts with ARL8A (PubMed:28325809).
messages: Lysosome membrane
messages: Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B. Required for ARL8B to exert its effects on lysosome location, recruits kinesin-1 to lysosomes and hence direct their movement toward microtubule plus ends. Binding to ARL8B provides a link from lysosomal membranes to plus-end-directed motility (PubMed:28325809, PubMed:22172677, PubMed:25898167, PubMed:24088571). Critical factor involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells (PubMed:24088571). Required for maintenance of the Golgi apparatus organization (PubMed:22172677). May play a role in membrane tubulation (PubMed:15905402).

9606:FAM91A1
gene id: 9606:FAM91A1
uniprot id: B4DUD8
uniprot id: E7ER68
uniprot id: Q658Y4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1.
messages: Belongs to the FAM91 family.
messages: Component of the complex WDR11 composed of C17orf75, FAM91A1 and WDR11; FAM91A1 and WDR11 are required for proper location of the complex (PubMed:29426865). Interacts with golgins GOLGA1 and GOLGA4 and with TBC1D23; interaction with golgins may be mediated by TBC1D23 and interaction with TBC1D23 recruits TBC1D23 to AP-1-derived vesicles (PubMed:29084197, PubMed:29426865).
messages: Cytoplasmic vesicle
messages: trans-Golgi network

9606:RPL32
gene id: 9606:RPL32
uniprot id: A0A024R2G7
uniprot id: P62910
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eukaryotic ribosomal protein eL32 family.
messages: Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547).
messages: Component of the large ribosomal subunit.
messages: Cytoplasm

9606:GRHL1
gene id: 9606:GRHL1
uniprot id: Q9NZI5
names: Developmental Stage
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the grh/CP2 family. Grainyhead subfamily.
messages: Binds DNA as homodimer (PubMed:29309642). Homodimer, also forms heterodimers with GRHL2 or GRHL3 (PubMed:12175488, PubMed:12549979, PubMed:29309642).
messages: Expressed in fetal liver and brain.
messages: Functions as transcription activator.
messages: GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxal lack of redundancy despite their extensive sequence identity in the DNA-binding and protein dimerization domains and the fact that the core consensus DNA binding sites are identical. They have related but remarkably different functions during embryogenesis because of their differential spatiotemporal expression patterns during development.
messages: Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is highly expressed in brain and liver. Expressed at very low levels in non-steroidogenic cells.
messages: May function as a repressor in tissues where both isoform 1 and isoform 2 are expressed.
messages: Nucleus
messages: Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' (PubMed:12175488, PubMed:18288204, PubMed:29309642). Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity).

9606:HTATIP2
gene id: 9606:HTATIP2
uniprot id: Q9BUP3
names: Caution
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HIV-1 Tat (via activation domain).
messages: Cytoplasm
messages: Monomer. Binds nuclear transport receptors XPO4, IPO5/RANBP5, IPO7, IPO9 and KPNB1 as well as GCN1L1/GCN1 and LRPPRC probably through their HEAT repeats. Binds NCOA5/CIA. Isoform 2 binds the proteasome subunit PSMD4/s5a through its N-terminus.
messages: Mutagenesis of Leu-154 and Leu-157 or Cys-158, Cys-160 and Cys-161 abolishes antiapoptotic effect.
messages: Nucleus envelope
messages: Oxidoreductase required for tumor suppression. NADPH-bound form inhibits nuclear import by competing with nuclear import substrates for binding to a subset of nuclear transport receptors. May act as a redox sensor linked to transcription through regulation of nuclear import. Isoform 1 is a metastasis suppressor with proapoptotic as well as antiangiogenic properties. Isoform 2 has an antiapoptotic effect.
messages: Ubiquitous. Highest level in liver. High levels in lung, skeletal muscle, pancreas and placenta. Moderate levels in heart and kidney. Low levels in brain. Not expressed or low levels in variant small cell lung carcinomas, 33% of hepatocellular carcinomas and neuroblastomas.
messages: Unique C-terminus confers high proteasome-dependent instability to isoform 2.
messages: Was originally (PubMed:9482853 and PubMed:10698937) thought to be a transcriptional coregulator with protein kinase activity. However, crystal structure reveals a short chain dehydrogenase/reductase fold binding NADPH rather than ATP.

9606:SCAPER
gene id: 9606:SCAPER
uniprot id: Q9BY12
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Endoplasmic reticulum
messages: Expressed at each stage of the cell cycle, including G0, although the expression is somewhat higher in late G1 and S phases.
messages: Interacts with CCNA2/CDK2 complex, but not with CCNA2/CDC2, CCNB1/CDC2 or CCNE1/CDK2 complexes, at multiple phases of the cell cycle, including S and G2/M.
messages: Nucleus
messages: Phosphorylated in vitro by the CCNA2/CDK2 complex.
messages: Probable cloning artifact.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Widely expressed with high expression in testis. Isoform 1 is detected in various tissues, including retina, fetal and adult brain. Isoform 2 is expressed in the retina at high levels, and in the brain at very low levels (PubMed:28794130).

9606:PTRHD1
gene id: 9606:PTRHD1
uniprot id: Q6GMV3
names: Similarity
messages: Belongs to the PTH2 family. PTRHD1 subfamily.

9606:OR13C9
gene id: 9606:OR13C9
uniprot id: Q8NGT0
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:CLC
gene id: 9606:CLC
uniprot id: Q05315
names: Caution
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasmic granule
messages: Expressed abundantly in the bone marrow. Expressed exclusively by eosinophils and basophils. Not detected in monocytes and neutrophils. Expressed in CD25-positive regulatory T-cells (Treg) (at protein level). Found in intestinal tissue from patients with Celiac disease, expression is directly related to the histological grade of mucosal damage and to the number of eosinophils found in the duodenal lesion (at protein level). Found in sputum of patients with eosinophilic inflammatory diseases such as asthma (at protein level).
messages: Forms hexagonal bipyramidal crystals, known as Charcot-Leyden crystals, in tissues and secretions from sites of eosinophil-associated inflammation and some myeloid leukemias.
messages: Interacts with CEL.
messages: Regulates immune responses through the recognition of cell-surface glycans. Essential for the anergy and suppressive function of CD25-positive regulatory T-cells (Treg).
messages: Was originally thought to possess lysophospholipase activity but the absence of this activity has been shown by PubMed:11834744.
messages: cytosol

9606:UTP15
gene id: 9606:UTP15
uniprot id: Q8TED0
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts directly with UTP4 and WDR43 (PubMed:24219289). May be a component of the proposed t-UTP subcomplex of the ribosomal small subunit (SSU) processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75 (PubMed:17699751, PubMed:22916032).
messages: Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.
messages: nucleolus

9606:NFATC2
gene id: 9606:NFATC2
uniprot id: Q13469
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in thymus, spleen, heart, testis, brain, placenta, muscle and pancreas. Isoform 1 is highly expressed in the small intestine, heart, testis, prostate, thymus, placenta and thyroid. Isoform 3 is highly expressed in stomach, uterus, placenta, trachea and thyroid.
messages: In resting cells, phosphorylated by NFATC-kinase on at least 18 sites in the 99-363 region. Upon cell stimulation, all these sites except Ser-243 are dephosphorylated by calcineurin. Dephosphorylation induces a conformational change that simultaneously exposes an NLS and masks an NES, which results in nuclear localization. Simultaneously, Ser-53 or Ser-56 is phosphorylated; which is required for full transcriptional activity.
messages: Inducibly expressed in T-lymphocytes upon activation of the T-cell receptor (TCR) complex. Induced after co-addition of phorbol 12-myristate 13-acetate (PMA) and ionomycin.
messages: Member of the multicomponent NFATC transcription complex that consists of at least two components, a pre-existing cytoplasmic component NFATC2 and an inducible nuclear component NFATC1. Other members such as NFATC4, NFATC3 or members of the activating protein-1 family, MAF, GATA4 and Cbp/p300 can also bind the complex. The phosphorylated form specifically interacts with XPO1; which mediates nuclear export. NFATC proteins bind to DNA as monomers. Interacts with NFATC2IP (By similarity). Interacts with FOXP3 (PubMed:15790681). Interacts with TBX21 ('Thr-303' phosphorylated form) (By similarity). Interacts with KAT2A (By similarity). Interacts with HOMER2 and HOMER3; this interaction competes with calcineurin/PPP3CA-binding and hence prevents NFATC2 dephosphorylation and activation (PubMed:18218901). Interacts with protein phosphatase PPP3CA/calcineurin A (PubMed:26248042).
messages: Nucleus
messages: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway.
messages: Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
messages: Ubiquitinated in endothelial cells by RNF213 downstream of the non-canonical Wnt signaling pathway, leading to its degradation by the proteasome.
messages: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

9606:VSNL1
gene id: 9606:VSNL1
uniprot id: P62760
names: Function
names: Miscellaneous
names: Similarity
names: Tissue Specificity
messages: Belongs to the recoverin family.
messages: Brain and retina. Neuron-specific in the central and peripheral nervous system. Increased in the cerebrospinal fluid of Alzheimer disease patients (at protein level).
messages: Probably binds three calcium ions.
messages: Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner.

9606:SLITRK4
gene id: 9606:SLITRK4
uniprot id: Q8IW52
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SLITRK family.
messages: Cell membrane
messages: Expressed in the cerebral cortex of the brain and at higher levels in some astrocytic brain tumors such as astrocytomas, glioblastomas and primitive neuroectodermal tumors.
messages: Interacts (via LRR 1 and 2 repeats) with PTPRD (via extracellular domain).
messages: It is involved in synaptogenesis and promotes synapse differentiation (PubMed:27812321). Suppresses neurite outgrowth (By similarity).
messages: Membrane

9606:FGFBP1
gene id: 9606:FGFBP1
uniprot id: Q14512
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a carrier protein that release fibroblast-binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs. Enhances FGF2 signaling during tissue repair, angiogenesis and in tumor growth.
messages: Belongs to the fibroblast growth factor-binding protein family.
messages: Cell membrane
messages: Expressed in the suprabasal region of the epidermis, in hair follicles, the basement membrane at the dermo-epidermal junction (occasionally extending into the basement membrane of dermal blood vessels), wounded skin and several invasive squamous cell carcinomas (at protein level). Expressed in normal and wounded skin and various squamous cell carcinomas.
messages: Expression is significantly up-regulated in carcinogen-induced skin tumors, various squamous cell carcinomas, some colon cancer cell lines and tumors.
messages: Found in a complex with FGFBP1, FGF1 and FGF2. Interacts with FGF1, FGF2, FGF7, FGF10, FGF22 and HSPG2.
messages: Up-regulated in epithelial cells after skin injury. Keratinocyte mitogens.
messages: extracellular space

9606:TPRKB
gene id: 9606:TPRKB
uniprot id: Q9Y3C4
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CGI121/TPRKB family.
messages: Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes (PubMed:22912744, PubMed:28805828). Interacts with TP53RK/PRPK (PubMed:12659830).
messages: Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:28805828). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:28805828). TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (PubMed:22912744, PubMed:28805828).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.
messages: cytosol

9606:KCP
gene id: 9606:KCP
uniprot id: Q6ZWJ8
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
messages: Enhances bone morphogenetic protein (BMP) signaling in a paracrine manner. In contrast, it inhibits both the activin-A and TGFB1-mediated signaling pathways (By similarity).
messages: Interacts with BMP7 and, by doing so, enhances binding to the type I receptors that contains cytoplasmic serine/threonine protein kinase domains. Also able to interact with activin-A and TGFB1 (By similarity).
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Secreted

9606:SUPT6H
gene id: 9606:SUPT6H
uniprot id: Q7KZ85
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein UL69.
messages: Belongs to the SPT6 family.
messages: Interacts with RNA polymerase II and the DRB sensitivity-inducing factor complex (DSIF complex), which is composed of SUPT5H and SUPT4H1. Interacts with KDM6A (By similarity). Interacts (via SH2 domain) with SETD1A (By similarity). Interacts (via SH2 domain) with POLR2A phosphorylated at 'Ser-2'. Interacts with IWS1, AICDA and PAAF1. Interacts with histone H2B and H3. Interacts with WDR43 (By similarity).
messages: Nucleus
messages: Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2), to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. SUPT6H via its association with SETD1A, regulates both class-switch recombination and somatic hypermutation through formation of H3K4me3 epigenetic marks on activation-induced cytidine deaminase (AICDA) target loci. Promotes the activation of the myogenic gene program by entailing erasure of the repressive H3K27me3 epigenetic mark through stabilization of the chromatin interaction of the H3K27 demethylase KDM6A.
messages: Ubiquitously expressed.

9606:USP3
gene id: 9606:USP3
uniprot id: Q6JHV3
uniprot id: Q9Y6I4
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C19 family.
messages: Belongs to the peptidase C19 family. USP3 subfamily.
messages: Both protease activity and an intact zinc finger are required for H2A monodeubiquitination.
messages: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.
messages: Expressed in all tissues examined, with strongest expression in pancreas.
messages: Hydrolase that deubiquitinates monoubiquitinated target proteins such as histone H2A and H2B. Required for proper progression through S phase and subsequent mitotic entry. May regulate the DNA damage response (DDR) checkpoint through deubiquitination of H2A at DNA damage sites. Associates with the chromatin.
messages: Interacts (via UBP-type domain) with H2A; the interaction is less efficient than with monoubiquitinated H2A.
messages: Nucleus

9606:SLC1A6
gene id: 9606:SLC1A6
uniprot id: B7Z7Q5
uniprot id: P48664
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family.
messages: Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A6 subfamily.
messages: Brain, mainly in the cerebellum (PubMed:7791878). Expressed densely and selectively in cell bodies of Purkinje cells.
messages: Cell membrane
messages: Contains eight transmembrane regions plus two helical hairpins that dip into the membrane. These helical hairpin structures play an important role in the transport process. The first enters the membrane from the cytoplasmic side, the second one from the extracellular side. During the transport cycle, the regions involved in amino acid transport, and especially the helical hairpins, move vertically by about 15-18 Angstroms, alternating between exposure to the aqueous phase and reinsertion in the lipid bilayer. In contrast, the regions involved in trimerization do not move.
messages: Homotrimer.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7791878, PubMed:26690923). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:7791878). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (Probable).

9606:ZC2HC1C
gene id: 9606:ZC2HC1C
uniprot id: A0A024R6E6
uniprot id: J3KMY6
uniprot id: Q53FD0
names: Similarity
messages: Belongs to the ZC2HC1 family.

9606:YY1
gene id: 9606:YY1
uniprot id: P25490
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the YY transcription factor family.
messages: Interacts with YAF2 through the region encompassing the first and second zinc fingers (PubMed:9016636). Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the DBINO domain of INO80 (PubMed:17721549, PubMed:18026119, PubMed:18922472, PubMed:21303910). Interacts with EED and EZH2; the interactions are indicative for an association with the PRC2/EED-EZH2 complex (PubMed:11158321). Interacts with SFMBT2 (PubMed:23385818). Found in a complex with SMAD1 and SMAD4 (PubMed:15329343). Found in a complex with YY1, SIN3A and HDAC1 (By similarity).
messages: Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). Binds to the consensus sequence 5'-CCGCCATNTT-3'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). Its activity is regulated by transcription factors and cytoplasmic proteins that have been shown to abrogate or completely inhibit YY1-mediated activation or repression (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). For example, it acts as a repressor in absence of adenovirus E1A protein but as an activator in its presence (PubMed:1655281). Acts synergistically with the SMAD1 and SMAD4 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (PubMed:15329343). Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (PubMed:15329343). May play an important role in development and differentiation. Proposed to recruit the PRC2/EED-EZH2 complex to target genes that are transcriptional repressed (PubMed:11158321). Involved in DNA repair (PubMed:18026119, PubMed:28575647). In vitro, binds to DNA recombination intermediate structures (Holliday junctions). Plays a role in regulating enhancer activation (PubMed:28575647).
messages: Nucleus matrix
messages: Phosphorylation at Ser-118 by CK2 prevents proteolytic cleavage by caspase-7 (CASP7) during apoptosis.
messages: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; proposed to target the INO80 complex to YY1-responsive elements.
messages: Proteolytically cleaved by caspase-7 (CASP7) in response to apoptosis (PubMed:22184066). Phosphorylation at Ser-118 protects against proteolytic cleavage (PubMed:22184066).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transiently poly-ADP-ribosylated by PARP1 upon DNA damage, with the effect of decreasing affinity of YY1 to its cognate DNA binding sites.
messages: Ubiquitinated.

9606:SLFNL1
gene id: 9606:SLFNL1
uniprot id: Q499Z3
names: Similarity
messages: Belongs to the Schlafen family. Subgroup I subfamily.

9606:UTP18
gene id: 9606:UTP18
uniprot id: Q9Y5J1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the WD repeat UTP18 family.
messages: Involved in nucleolar processing of pre-18S ribosomal RNA.
messages: nucleolus

9606:DNMT3L
gene id: 9606:DNMT3L
uniprot id: Q9UJW3
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Catalytically inactive regulatory factor of DNA methyltransferases that can either promote or inhibit DNA methylation depending on the context (By similarity). Essential for the function of DNMT3A and DNMT3B: activates DNMT3A and DNMT3B by binding to their catalytic domain (PubMed:17687327). Acts by accelerating the binding of DNA and S-adenosyl-L-methionine (AdoMet) to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases (PubMed:17687327). Recognizes unmethylated histone H3 lysine 4 (H3K4me0) and induces de novo DNA methylation by recruitment or activation of DNMT3 (PubMed:17687327). Plays a key role in embryonic stem cells and germ cells (By similarity). In germ cells, required for the methylation of imprinted loci together with DNMT3A (By similarity). In male germ cells, specifically required to methylate retrotransposons, preventing their mobilization (By similarity). Plays a key role in embryonic stem cells (ESCs) by acting both as an positive and negative regulator of DNA methylation (By similarity). While it promotes DNA methylation of housekeeping genes together with DNMT3A and DNMT3B, it also acts as an inhibitor of DNA methylation at the promoter of bivalent genes (By similarity). Interacts with the EZH2 component of the PRC2/EED-EZH2 complex, preventing interaction of DNMT3A and DNMT3B with the PRC2/EED-EZH2 complex, leading to maintain low methylation levels at the promoters of bivalent genes (By similarity). Promotes differentiation of ESCs into primordial germ cells by inhibiting DNA methylation at the promoter of RHOX5, thereby activating its expression (By similarity).
messages: Expressed at low levels in several tissues including testis, ovary, and thymus.
messages: Homodimer (PubMed:17687327, PubMed:17713477). Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L) (PubMed:17713477). Interacts with histone H3 (via N-terminus); interaction is strongly inhibited by methylation at lysine 4 (H3K4me) (PubMed:17687327). Interacts with EZH2; the interaction is direct (By similarity). Interacts with SPOCD1 (By similarity).
messages: Interaction with histone H3 is strongly inhibited by methylation at lysine 4 (H3K4me).
messages: Nucleus

9606:GAP43
gene id: 9606:GAP43
uniprot id: P17677
uniprot id: Q5U058
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the neuromodulin family.
messages: Cell membrane
messages: Cytoplasm
messages: Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN (By similarity). Interacts (via IQ domain) with calmodulin (By similarity). Binds calmodulin with a greater affinity in the absence of Ca(2+) than in its presence (By similarity).
messages: Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. Interacts (via IQ domain) with calmodulin. Binds calmodulin with a greater affinity in the absence of Ca(2+) than in its presence.
messages: Membrane
messages: Palmitoylated by ZDHHC3 (By similarity). Palmitoylation is regulated by ARF6 and is essential for plasma membrane association and axonal and dendritic filopodia induction (PubMed:14978216). Deacylated by LYPLA2 (PubMed:21152083).
messages: Palmitoylated. Palmitoylation is essential for plasma membrane association.
messages: Perikaryon
messages: Phosphorylated (By similarity). Phosphorylation of this protein by a protein kinase C is specifically correlated with certain forms of synaptic plasticity (By similarity).
messages: Synapse
messages: This protein is associated with nerve growth. It is a major component of the motile 'growth cones' that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction.
messages: axon
messages: dendrite
messages: filopodium membrane
messages: growth cone membrane

9606:PLXNB1
gene id: 9606:PLXNB1
uniprot id: O43157
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the plexin family.
messages: Cell membrane
messages: Highly expressed in fetal kidney, and at slightly lower levels in fetal brain, lung and liver.
messages: Monomer, and heterodimer with PLXNB2 after proteolytic processing (PubMed:12533544, PubMed:17916560, PubMed:18411422, PubMed:18275816, PubMed:19843518, PubMed:20877282, PubMed:21912513). Binds RAC1 that has been activated by GTP binding (PubMed:11035813, PubMed:17916560, PubMed:18275816, PubMed:19843518). Interaction with SEMA4D promotes binding of cytoplasmic ligands (PubMed:10520995, PubMed:12198496, PubMed:19843518). Interacts with PLXNA1 (By similarity). Interacts with ARHGEF11 and ARHGEF12 (PubMed:12196628). Interacts with ERBB2 (PubMed:15210733). Interacts with MET (PubMed:12198496, PubMed:15184888). Interacts with MST1R (PubMed:15184888). Interacts with RRAS (PubMed:19843518). Interacts with RHOD (PubMed:17916560). Interacts with RND1 (PubMed:12730235, PubMed:17916560, PubMed:18275816, PubMed:19843518). Interacts with NRP1 and NRP2 (PubMed:10520995).
messages: Phosphorylated on tyrosine residues by ERBB2 and MET upon SEMA4D binding.
messages: Proteolytic processing favors heterodimerization with PLXNB2 and SEMA4D binding.
messages: Receptor for SEMA4D (PubMed:19843518, PubMed:20877282, PubMed:21912513). Plays a role in GABAergic synapse development (By similarity). Mediates SEMA4A- and SEMA4D-dependent inhibitory synapse development (By similarity). Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton (PubMed:12196628, PubMed:15210733). Plays a role in axon guidance, invasive growth and cell migration (PubMed:12198496).
messages: Secreted

9606:RASGRF2
gene id: 9606:RASGRF2
uniprot id: O14827
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions in synaptic plasticity by contributing to the induction of long term potentiation.
messages: Homooligomer and heterooligomer with RASGRF1. Interacts with Ras and RAC1. Interacts in a calcium-dependent manner with calmodulin (By similarity). Interacts with CDK5R1 and EPB49. Interacts with the AMPA receptor through GRIA1 (By similarity). Interacts with microtubules (By similarity).
messages: Phosphorylated by CDK5; down-regulates RASGRF2-mediated RAC1 activation.
messages: The DH (DBL-homology) domain mediates interaction with RASGRF1 and EPB49 and is required for RAC1 activation.
messages: The IQ domain mediates the calcium-dependent interaction with calmodulin but is dispensable for the Ras-GEF activity.
messages: The Ras-GEF domain and the N-terminal Ras-GEF domain form a Ras-binding site and mediate Ras activation.
messages: Ubiquitinated upon interaction with Ras. Ubiquitination leads to degradation through the 26S proteasome (By similarity).
messages: Widely expressed with higher expression in brain, followed by heart, lung, pancreas and kidney. Detected in placenta. Expressed in brain and lung (at protein level).

9606:ATOX1
gene id: 9606:ATOX1
uniprot id: O00244
names: Domain
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the ATX1 family.
messages: Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense.
messages: Interacts with ATP7B (PubMed:10966647). Interacts with ATP7A (PubMed:21667063, PubMed:19453293).
messages: The heavy-metal-associated domain (HMA) coordinates a Cu(+) ion via the cysteine residues within the CXXC motif. The transfer of Cu(+) ion from ATOX1 to ATP7A involves the formation of a three-coordinate Cu(+)-bridged heterodimer where the metal is shared between the two metal binding sites of ATOX1 and ATP7A. The Cu(+) ion appears to switch between two coordination modes, forming two links with one protein and one with the other. Cisplatin, a chemotherapeutic drug, can bind the CXXC motif and hinder the release of Cu(+) ion.
messages: Ubiquitous.

9606:PSMA5
gene id: 9606:PSMA5
uniprot id: A0A109NGN6
uniprot id: P28066
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase T1A family.
messages: Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).
messages: Cytoplasm
messages: Expressed in fetal brain (at protein level).
messages: Nucleus
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits.
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7. PSMA5 interacts directly with the PSMG1-PSMG2 heterodimer which promotes 20S proteasome assembly.
messages: Up-regulated in colon cancer cell lines. Up-regulated in fetal Down syndrome (DS) brain (at protein level). May be the target of the transcriptional activator NFE2L2.

9606:F2RL3
gene id: 9606:F2RL3
uniprot id: Q96RI0
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand.
messages: Activated upon interaction by mucunain, a cowhage (Mucuna pruriens) plant cysteine proteinase.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis (PubMed:10079109). May play a role in platelets activation (PubMed:10079109).
messages: Widely expressed, with highest levels in lung, pancreas, thyroid, testis and small intestine. Not expressed in brain, kidney, spinal cord and peripheral blood leukocytes. Also detected in platelets.

9606:TRUB1
gene id: 9606:TRUB1
uniprot id: Q8WWH5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the pseudouridine synthase TruB family.
messages: Highly expressed in heart, skeletal muscle and liver. Expressed at lower levels in lung, small intestine, kidney and spleen.
messages: Nucleus
messages: Pseudouridine synthase that catalyzes pseudouridylation of mRNAs and tRNAs (PubMed:28073919, PubMed:31477916, PubMed:32926445). Mediates pseudouridylation of mRNAs with the consensus sequence 5'-GUUCNANNC-3', harboring a stem-loop structure (PubMed:28073919, PubMed:31477916). Constitutes the major pseudouridine synthase acting on mRNAs (PubMed:28073919). Also catalyzes pseudouridylation of some tRNAs, including synthesis of pseudouridine(55) from uracil-55, in the psi GC loop of a subset of tRNAs (PubMed:32926445, PubMed:33023933). Promotes the processing of pri-let-7 microRNAs (pri-miRNAs) independently of its RNA pseudouridylate synthase activity (PubMed:32926445). Acts by binding to the stem-loop structure on pri-let-7, preventing LIN28-binding (LIN28A and/or LIN28B), thereby enhancing the interaction between pri-let-7 and the microprocessor DGCR8, which mediates miRNA maturation (PubMed:32926445).
messages: cytosol

9606:MBD3L3
gene id: 9606:MBD3L3
uniprot id: A6NE82
names: Caution
names: Miscellaneous
names: Similarity
messages: Belongs to the MBD3L family.
messages: Could be the product of a pseudogene.
messages: The MBD3L proteins are encoded by strongly repeated regions of the 19p13 chromosome. The exact number of functional copies is unclear, and some of them may represent pseudogenes.

9606:SERF2
gene id: 9606:SERF2
uniprot id: P84101
names: Function
names: Similarity
messages: Belongs to the SERF family.
messages: Positive regulator of amyloid protein aggregation and proteotoxicity (PubMed:20723760). Induces conformational changes in amyloid proteins, such as HTT, driving them into compact formations preceding the formation of aggregates (PubMed:20723760).

9606:SAPCD2
gene id: 9606:SAPCD2
uniprot id: Q86UD0
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Cytoplasm
messages: Expressed in 5-month-old fetal tissues, including stomach, intestine, colon, liver, brain, lung, heart, spleen and kidney (PubMed:17525738). Undetectable in non-cancerous adult tissues (PubMed:17525738). Expressed in many primary gastric carcinoma, but almost not in adjacent normal mucosa (PubMed:17525738). Expressed preferentially in M and G1 phases, compared to S and G2 phases (PubMed:17525738). Expression is up-regulated in hepatocellular carcinoma (HCC) and colorectal cancer (CRC) tissues (at protein level) (PubMed:23704824).
messages: Interacts with a spindle orientation complex at least composed of GNAI1, GPSM2 and NUMA1 (PubMed:26766442). Interacts with GPSM2 (via TPR motifs); this interaction is required to prevent GPSM2 anchoring at the mitotic apical cortex and is inhibited in presence of NUMA1 in a dose dependent manner (PubMed:26766442). Interacts with PARD3 (PubMed:26766442).
messages: Nucleus
messages: Plays a role in planar mitotic spindle orientation in retinal progenitor cells (RPCs) and promotes the production of symmetric terminal divisions (By similarity). Negatively regulates the mitotic apical cortex localization of GPSM2 (PubMed:26766442). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:23576022, PubMed:23704824).
messages: cell cortex
messages: tight junction

9606:MRTFA
gene id: 9606:MRTFA
uniprot id: Q969V6
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving MRTFA may be a cause of acute megakaryoblastic leukemia. Translocation t(1;22)(p13;q13) with RBM15 (PubMed:11431691, PubMed:11344311). Although both reciprocal fusion transcripts are detected in acute megakaryoblastic leukemia (AMKL, FAB-M7), the RBM15-MRTFA chimeric protein has all the putative functional domains encoded by each gene and is the candidate oncogene (PubMed:11431691, PubMed:11344311).
messages: Cytoplasm
messages: Interacts with SRF, forming the SRF-MRTFA nuclear complex which binds the 5'-CArG-3' consensus motif (CArG box) on DNA via SRF (PubMed:14565952, PubMed:19350017). Interacts (via RPEL repeats) with globular actin (G-actin), thereby regulating its subcellular location and activity of the complex formed with SRF (PubMed:19350017). Either forms a trivalent (by binding three G-actin monomers) or pentavalent (by binding five G-actin monomers) complex with G-actin (By similarity). Forms a nuclear ternary complex with SCAI and SRF, leading to suppress MRTFA-induced SRF transcriptional activity (PubMed:19350017). Interacts with beta-actin (ACTB); interaction with ACTB prevents interaction with SCAI (By similarity). Interacts with MRTFB (PubMed:14565952).
messages: Nucleus
messages: Phosphorylation at Ser-6 by Erk inhibits binding of globular actin (G-actin), unmasking the nuclear localization signal (NLS) and promoting nuclear import.
messages: The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
messages: The RPEL repeats mediate binding to globular actin (G-actin); each RPEL repeat-binding to one G-actin monomer. In addition, each intervening spacer sequence region can bind one G-actin monomer, to reach a pentavalent complex.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration (PubMed:26224645). The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus.
messages: Ubiquitously expressed, has been detected in lung, placenta, small intestine, liver, kidney, spleen, thymus, colon, muscle, heart and brain (PubMed:11344311). Expressed in peripheral blood mononuclear cells (at protein level) (PubMed:26224645).

9606:ZNF250
gene id: 9606:ZNF250
uniprot id: P15622
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:CRTC1
gene id: 9606:CRTC1
uniprot id: Q6UUV9
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HTLV1 Tax.
messages: (Microbial infection) Plays a role of coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR).
messages: A chromosomal aberration involving CRTC1 is found in mucoepidermoid carcinomas, benign Warthin tumors and clear cell hidradenomas. Translocation t(11;19)(q21;p13) with MAML2. The fusion protein consists of the N-terminus of CRTC1 joined to the C-terminus of MAML2. The reciprocal fusion protein consisting of the N-terminus of MAML2 joined to the C-terminus of CRTC1 has been detected in a small number of mucoepidermoid carcinomas.
messages: Belongs to the TORC family.
messages: Binds, as a tetramer, through its N-terminal region, with the bZIP domain of CREB1 (PubMed:14536081). 'Arg-314' in the bZIP domain of CREB1 is essential for this interaction (PubMed:14536081). Interaction, via its C-terminal, with TAF4, enhances recruitment of TAF4 to CREB1 (PubMed:14536081). Interacts with 14-3-3 proteins, including YWHAE/14-3-3 epsilon (PubMed:30611118). Interacts with calmodulin-dependent catalytic subunit PPP3CA/calcineurin A (PubMed:30611118).
messages: Cytoplasm
messages: Highly expressed in adult and fetal brain. Located to specific regions such as the prefrontal cortex and cerebellum. Very low expression in other tissues such as heart, spleen, lung, skeletal muscle, salivary gland, ovary and kidney.
messages: Nucleus
messages: Phosphorylation/dephosphorylation states of Ser-151 are required for regulating transduction of CREB activity. TORCs are inactive when phosphorylated, and active when dephosphorylated at this site. This primary site of phosphorylation is mediated by SIKs (SIK1 and SIK2), is regulated by cAMP and calcium levels and is dependent on the phosphorylation of SIKs by LKB1 (By similarity).
messages: Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. In the hippocampus, involved in late-phase long-term potentiation (L-LTP) maintenance at the Schaffer collateral-CA1 synapses. May be required for dendritic growth of developing cortical neurons (By similarity). In concert with SIK1, regulates the light-induced entrainment of the circadian clock. In response to light stimulus, coactivates the CREB-mediated transcription of PER1 which plays an important role in the photic entrainment of the circadian clock.

9606:IL22RA2
gene id: 9606:IL22RA2
uniprot id: Q969J5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the type II cytokine receptor family.
messages: Expressed in placenta, spleen, breast, skin and lung. Also detected in intestinal tract, testis, brain, heart and thymus. No expression found in prostate, bladder, kidney, ovary, muscle, bone marrow, liver and uterus. Isoform 1 is expressed only in placenta. Isoform 2 is expressed in placenta and breast and at lower level in spleen, skin, thymus and stomach.
messages: Isoform 1 may play a role in establishing and maintaining successful pregnancy.
messages: Isoform 2 is a receptor for IL22. Binds to IL22, prevents interaction with the functional IL-22R complex and blocks the activity of IL22 (in vitro). May play an important role as an IL22 antagonist in the regulation of inflammatory responses.
messages: Secreted

9606:CELSR2
gene id: 9606:CELSR2
uniprot id: Q9HCU4
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
messages: Cell membrane
messages: Highest expression in brain and testis.
messages: Receptor that may have an important role in cell/cell signaling during nervous system formation.
messages: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.

9606:PRELID3B
gene id: 9606:PRELID3B
uniprot id: Q9Y3B1
names: Similarity
messages: Belongs to the slowmo family.

9606:ZNF701
gene id: 9606:ZNF701
uniprot id: Q9NV72
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:ARFGEF2
gene id: 9606:ARFGEF2
uniprot id: A0A7P0T7Z2
uniprot id: Q86TH5
uniprot id: Q9Y6D5
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Cytoplasmic vesicle
messages: Endosome
messages: Expressed in placenta, lung, heart, brain, kidney and pancreas.
messages: Golgi apparatus
messages: Homodimer (Probable). Interacts with ARFGEF1/BIG1; both proteins are probably part of the same or very similar macromolecular complexes. Interacts with PRKAR1A, PRKAR2A, PRKAR1B, PRKAR2B, PPP1CC, PDE3A, TNFRSF1A, MYCBP and EXOC7. Interacts with GABRB1, GABRB2 and GABRB3 (By similarity).
messages: In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.
messages: Inhibited by brefeldin A.
messages: Membrane
messages: Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways.
messages: Synapse
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome
messages: cytoskeleton
messages: dendrite
messages: perinuclear region
messages: trans-Golgi network

9606:CENPC
gene id: 9606:CENPC
uniprot id: Q03188
names: Developmental Stage
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CENP-C/MIF2 family.
messages: Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions.
messages: Expression varies across the cell cycle, with high levels in G2 phase (at the mRNA level).
messages: Nucleus
messages: Oligomer. Component of the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU (PubMed:16622419). The CENPA-NAC complex interacts with the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. Binds to DAXX (PubMed:9645950). Interacts with DNMT3B (PubMed:19482874). Interacts directly with CENPA (PubMed:19503796). Identified in a centromere complex containing histones H2A, H2B and H4, and at least CENPA, CENPB, CENPC, CENPT, CENPN, HJURP, SUPT16H, SSRP1 and RSF1 (PubMed:27499292). Interacts with MEIKIN (By similarity).
messages: The MIF2 homology domain II targets centromeres and binds the alpha satellite DNA in vivo. The MIF2 homology domain III can induce CENPC dimerization/oligomerization.
messages: centromere
messages: kinetochore

9606:CCDC113
gene id: 9606:CCDC113
uniprot id: Q9H0I3
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of centriolar satellites contributing to primary cilium formation.
messages: Interacts with HAP1 and PCM1.
messages: centriolar satellite

9606:MLIP
gene id: 9606:MLIP
uniprot id: Q5VWP3
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expression is reduced in patients with dilated cardiomyocytes. In murine cardiomyopathy models, deletion of the encoding gene accelerates progress from hypertrophy to heart failure.
messages: Interacts with LMNA (PubMed:21498514). Interacts with ISL1 (via N-terminal domain); the interaction represses ISL1 transactivator activity (By similarity).
messages: Nucleus
messages: Nucleus envelope
messages: PML body
messages: Primarily expressed in heart and skeletal muscle. Also detected in liver.
messages: Required for precocious cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays an important role in protection against cardiac hypertrophy. Acts as a transcriptional cofactor, represses transactivator activity of ISL1 and MYOCD.
messages: sarcolemma

9606:CMTM1
gene id: 9606:CMTM1
uniprot id: E9PAX0
uniprot id: Q8IZ96
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the chemokine-like factor family.
messages: Highly expressed in testis.
messages: Membrane

9606:PBRM1
gene id: 9606:PBRM1
uniprot id: Q86U86
names: Disease Annotation
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin. Interacts with PHF10/BAF45A (By similarity). Interacts with acetylated 'Lys-14' of histone H3 (H3K14ac), and may also interact with other acetylated or methylated Lys residues on histone H3.
messages: Contaminating sequence.
messages: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.

9606:PLCG1
gene id: 9606:PLCG1
uniprot id: P19174
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts (via SH3 domain) with HEV ORF3 protein.
messages: Activated by phosphorylation on tyrosine residues.
messages: Interacts with AGAP2 via its SH3 domain. Interacts (via SH2 domain) with RET. Interacts with FLT1 (tyrosine-phosphorylated) (By similarity). Interacts (via SH2 domain) with FGFR1, FGFR2, FGFR3 and FGFR4 (phosphorylated). Interacts with LAT (phosphorylated) upon TCR activation. Interacts (via SH3 domain) with the Pro-rich domain of TNK1. Associates with BLNK, VAV1, GRB2 and NCK1 in a B-cell antigen receptor-dependent fashion. Interacts with CBLB in activated T-cells; which inhibits phosphorylation. Interacts with SHB. Interacts (via SH3 domain) with the Arg/Gly-rich-flanked Pro-rich domains of KHDRBS1/SAM68. This interaction is selectively regulated by arginine methylation of KHDRBS1/SAM68. Interacts with INPP5D/SHIP1, THEMIS and CLNK (By similarity). Interacts with AXL, FLT4 and KIT. Interacts with RALGPS1. Interacts (via the SH2 domains) with VIL1 (phosphorylated at C-terminus tyrosine phosphorylation sites). Interacts (via SH2 domain) with PDGFRA and PDGFRB (tyrosine phosphorylated). Interacts with PIP5K1C (By similarity). Interacts with NTRK1 and NTRK2 (phosphorylated upon ligand-binding). Interacts with SYK; activates PLCG1. Interacts with GRB2, LAT and THEMIS upon TCR activation in thymocytes (By similarity). Interacts with TESPA1; the association is increased with prolonged stimulation of the TCR and may facilitate the assembly of the LAT signalosome.
messages: Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, EGFR, FGFR1, FGFR2, FGFR3 and FGFR4 (By similarity). Plays a role in actin reorganization and cell migration (PubMed:17229814).
messages: The SH3 domain mediates interaction with CLNK (By similarity). The SH3 domain also mediates interaction with RALGPS1 (PubMed:10747847).
messages: Tyrosine phosphorylated in response to signaling via activated FLT3, KIT and PDGFRA (By similarity). Tyrosine phosphorylated by activated FGFR1, FGFR2, FGFR3 and FGFR4. Tyrosine phosphorylated by activated FLT1 and KDR. Tyrosine phosphorylated by activated PDGFRB. The receptor-mediated activation of PLCG1 involves its phosphorylation by tyrosine kinases, in response to ligation of a variety of growth factor receptors and immune system receptors. For instance, SYK phosphorylates and activates PLCG1 in response to ligation of the B-cell receptor. May be dephosphorylated by PTPRJ. Phosphorylated by ITK and TXK on Tyr-783 upon TCR activation in T-cells.
messages: Ubiquitinated by CBLB in activated T-cells.
messages: lamellipodium
messages: ruffle

9606:BSX
gene id: 9606:BSX
uniprot id: Q3C1V8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the distal-less homeobox family.
messages: DNA binding protein that function as transcriptional activator. Is essential for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory behavior in the control of energy balance (By similarity).
messages: Nucleus

9606:DEFB4B
gene id: 9606:DEFB4B
uniprot id: O15263
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the beta-defensin family. LAP/TAP subfamily.
messages: Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria, with highest activity against Gram-negative bacteria (PubMed:9202117, PubMed:10837369). Antimicrobial activity against P.aruginosa seems to be salt-sensitive and is reduced with high salt concentrations greater than 25 mM (PubMed:10837369). Also exhibits antimicrobial activity against the yeast C.albicans (PubMed:9202117, PubMed:10837369, PubMed:30050988). Permeabilizes C.albicans cell membranes via targeting plasma membrane lipid phosphatidylinositol 4,5-bisphosphate (PIP2), thereby leading to cell fragmentation and cell death (PubMed:30050988). Acts as a ligand for C-C chemokine receptor CCR6 (PubMed:10521347, PubMed:20068036). Binds to CCR6 and induces chemotactic activity of CCR6-expressing cells, such as immature dendritic cells and memory T cells (PubMed:10521347, PubMed:20068036).
messages: Expressed in lung epithelial cells (at protein level) (PubMed:10837369). Expressed in foreskin, lung and trachea (PubMed:9202117). Lower expression in kidney, uterus and salivary gland tissue (PubMed:9202117). Expressed in epithelial cells of the respiratory tract, with higher expression in distal parenchyma of the lung, trachea, and tonsils, and lower expression in pharynx and adenoid, and low expression in tongue and larynx (PubMed:9831658, PubMed:10837369).
messages: Monomer (PubMed:11300761). Homodimer (PubMed:10906336).
messages: Secreted
messages: Up-regulated by TNF, IL1B, Gram-negative and Gram-positive bacteria, C.albicans and bacterial lipopolysaccharides (LPS) (PubMed:9202117, PubMed:10837369). Up-regulated by inflammation in skin keratinocytes in epidermal tissue (PubMed:9831658).

9606:USP37
gene id: 9606:USP37
uniprot id: A0A024R416
uniprot id: Q86T82
names: Developmental Stage
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C19 family.
messages: Deubiquitinase that antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'-linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Also mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains in vitro. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 and CCNA2) (PubMed:21596315). Plays an important role in the regulation of DNA replication by stabilizing the licensing factor CDT1 (PubMed:27296872).
messages: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.
messages: Expressed in brain and prostate.
messages: Induced by E2F transcription factors in G1.
messages: Induced in G1 phase, accumulates at G1/S transition, and degraded in late mitosis following ubiquitination and degradation by the APC(CDH1) complex.
messages: Interacts with FZR1/CDH1 (PubMed:21596315). Interacts with CDT1 (PubMed:27296872).
messages: Phosphorylated at Ser-628 by CDK2 during G1/S phase but not during mitosis; phosphorylation at Ser-628 is required for deubiquitinase activity. Also polyubiquitinated during early G1 phase, without leading to degradation.
messages: Polyubiquitinated via 'Lys-11'-linked ubiquitin by the APC(CDH1) complex during late mitosis, leading to its degradation. Able to mediate auto-deubiquitination.
messages: The KEN box 3 is required for interaction with FZR1/CDH1 and is essential for APC(CDH1)-mediated ubiquitination.

9606:SCAI
gene id: 9606:SCAI
uniprot id: Q8N9R8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SCAI family.
messages: Cytoplasm
messages: Interacts with DIAPH1 (By similarity). Forms a nuclear ternary complex with MRTFA and SRF.
messages: Membrane
messages: Nucleus
messages: Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity. May function in the RHOA-DIAPH1 signal transduction pathway and regulate cell migration through transcriptional regulation of ITGB1.

9606:FKBP11
gene id: 9606:FKBP11
uniprot id: Q9NYL4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the FKBP-type PPIase family.
messages: Interacts with IFITM5.
messages: Membrane
messages: PPIases accelerate the folding of proteins during protein synthesis.

9606:RCVRN
gene id: 9606:RCVRN
uniprot id: P35243
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a calcium sensor and regulates phototransduction of cone and rod photoreceptor cells (By similarity). Modulates light sensitivity of cone photoreceptor in dark and dim conditions (By similarity). In response to high Ca(2+) levels induced by low light levels, prolongs RHO/rhodopsin activation in rod photoreceptor cells by binding to and inhibiting GRK1-mediated phosphorylation of RHO/rhodopsin (By similarity). Plays a role in scotopic vision/enhances vision in dim light by enhancing signal transfer between rod photoreceptors and rod bipolar cells (By similarity). Improves rod photoreceptor sensitivity in dim light and mediates response of rod photoreceptors to facilitate detection of change and motion in bright light (By similarity).
messages: Belongs to the recoverin family.
messages: EF-hand 2 and EF-hand 3 domains are the low-affinity and the high-affinity calcium binding sites, respectively. EF-hand 1 and EF-hand 4 domains do not bind calcium due to substitutions that disrupt their respective Ca(2+) binding loops. The cooperative binding of calcium to the EF-hand 2 domain following EF-hand 3 domain calcium binding requires myristoylation (By similarity). Calcium binding to the 2 EF-hand domains induces exposure of the myristoyl group through a protein conformation change, this process known as the calcium-myristoyl switch facilitates binding to photoreceptor cell membranes (By similarity).
messages: Homodimer; disulfide-linked (By similarity). Homodimerization is caused by prolonged intense illumination (By similarity). May form a complex composed of RHO, GRK1 and RCVRN in a Ca(2+)-dependent manner; RCVRN prevents the interaction between GRK1 and RHO (By similarity). Interacts (via C-terminus) with GRK1 (via N-terminus); the interaction is Ca(2+)-dependent (By similarity).
messages: Oxidation on Cys-39 occurs in response to prolonged intense illumination and results in the formation of disulfide homodimers, and to a lesser extent disulfide-linked heterodimers.
messages: Perikaryon
messages: Photoreceptor inner segment
messages: Photoreceptor outer segment membrane
messages: Retina and pineal gland.
messages: The N-terminal glycine is linked to one of four different types of acyl groups. The most abundant is myristoleate (14:1), but 14:0, 14:2, and 12:0 acyl residues are also present (By similarity). The Ca(2+) induced exposure of the myristoyl group, known as the calcium-myristoyl switch, promotes RCVRN binding to the photoreceptor cell membranes only when intracellular Ca(2+) concentration is high (By similarity).
messages: photoreceptor outer segment

9606:QPCTL
gene id: 9606:QPCTL
uniprot id: Q9NXS2
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glutaminyl-peptide cyclotransferase family.
messages: Golgi apparatus membrane
messages: It is unclear whether this protein requires a metal cofactor for catalysis. It was originally proposed to be a Zn(2+)-dependent metalloenzyme based on structural similarities to bacterial aminopeptidases and the observation that it can bind Zn(2+) ions, typically in a 1:1 stoichiometry (PubMed:21288892). However, a recent study suggests a Zn(2+)-independent catalytic mechanism (By similarity).
messages: Responsible for the biosynthesis of pyroglutamyl peptides.

9606:MICU2
gene id: 9606:MICU2
uniprot id: Q8IYU8
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MICU1 family. MICU2 subfamily.
messages: Heterodimer; disulfide-linked; heterodimerizes with MICU1 (PubMed:24560927). Interacts with MCU (PubMed:26341627). The heterodimer formed with MICU1 associates with MCU at low calcium concentration and dissociates from MCU at high calcium level (PubMed:26387864). Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1 (PubMed:24231807).
messages: Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low (PubMed:24503055, PubMed:24560927, PubMed:26903221). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium (PubMed:24560927). MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering (PubMed:24560927).
messages: Mitochondrion intermembrane space
messages: The EF-hand domains have high affinity for calcium and act as sensors of mitochondrial matrix calcium levels (PubMed:24503055). It is unclear which EF-hand binds calcium as none of the 4 EF-hand domains seem to contain a canonical calcium-binding site.

9606:LRRC24
gene id: 9606:LRRC24
uniprot id: Q50LG9
names: Subcellular Location Annotation
messages: Membrane

9606:APOC3
gene id: 9606:APOC3
uniprot id: A3KPE2
uniprot id: P02656
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the apolipoprotein C3 family.
messages: Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (PubMed:18201179, PubMed:22510806). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (PubMed:18201179, PubMed:22510806). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners (PubMed:18408013).
messages: Liver.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The most abundant glycoforms are characterized by an O-linked disaccharide galactose linked to N-acetylgalactosamine (Gal-GalNAc), further modified with up to 3 sialic acid residues. Less abundant glycoforms are characterized by more complex and fucosylated glycan moieties. O-glycosylated on Thr-94 with a core 1 or possibly core 8 glycan.

9606:PLSCR5
gene id: 9606:PLSCR5
uniprot id: A0PG75
names: Domain
names: Similarity
messages: Belongs to the phospholipid scramblase family.
messages: The N-terminal proline-rich domain (PRD) is required for phospholipid scramblase activity.

9606:ZBTB47
gene id: 9606:ZBTB47
uniprot id: Q9UFB7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:UBQLN2
gene id: 9606:UBQLN2
uniprot id: Q9UHD9
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Degraded during macroautophagy.
messages: Dimerization is dependent upon the central region of the protein containing the STI1 domains and is independent of its ubiquitin-like and UBA domains.
messages: Highly expressed in mitotic cells from metaphase to telophase. Expression in non-mitotic cells is very low.
messages: Homodimer. Forms heterodimer with UBQLN1. Binds UBE3A and BTRC. Interacts with the 19S proteasome subunit. Interacts with C9orf72. Interacts with HNRNPA1 and HNRNPU. Found in a complex with UBQLN1 and MAP1LC3A/B/C. Interacts with EPS15, EPN1 and EPN2. Interacts with HERPUD1. Interacts with RAD23A. Interacts with TARDBP. Interacts (via C-terminus) with FAF2 (via N-terminus). Interacts with UBQLN4. Binds CD47 (By similarity).
messages: Membrane
messages: Nucleus
messages: Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:10983987). Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:24215460, PubMed:18307982). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) (PubMed:18199683).
messages: The UBA domain is essential for its association with microtubule-associated protein 1 light chain 3 (MAP1LC3). Mediates its association with ubiquitinated substrates.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The ubiquitin-like domain is essential for its inhibitory effect on GPCR endocytosis. Mediates its association with the subunits of the proteasome.
messages: autophagosome

9606:A2M
gene id: 9606:A2M
uniprot id: P01023
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family.
messages: Homotetramer; disulfide-linked.
messages: Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region, a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase.
messages: Secreted
messages: Secreted in plasma.
messages: Unlike the rat protein, which is an acute phase protein, this protein is always in circulation at high levels.

9606:MSI2
gene id: 9606:MSI2
uniprot id: B4DHE8
uniprot id: Q96DH6
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the Musashi family.
messages: Chromosomal aberrations involving MSI2 may contribute to disease progression in chronic myeloid leukemia. Translocation t(7;17)(p15;q23) with HOXA9; translocation t(7;17)(q32-34;q23).
messages: Cytoplasm
messages: Phosphorylated.
messages: RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity).
messages: Ubiquitous; detected at low levels.
messages: Up-regulated in astrocytes after brain injury.

9606:NYAP2
gene id: 9606:NYAP2
uniprot id: Q9P242
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis.
messages: Belongs to the NYAP family.
messages: Interacts with ACOT9, ARHGAP26 and PIK3R2. Interacts with components of the WAVE1 complex, CYFIP1 and NCKAP1; this interaction mediates PI3K-WAVE1 association and actin cytoskeleton remodeling (By similarity).
messages: Phosphorylated on tyrosine residues by FYN upon stimulation with CNTN5.

9606:SCRG1
gene id: 9606:SCRG1
uniprot id: O75711
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SCRG1 family.
messages: Expressed abundantly in the central nervous system of adult, but not at all in fetal brain. High levels of SCRG1 transcripts are also observed in testis and aorta.
messages: Secreted

9606:GALNT9
gene id: 9606:GALNT9
uniprot id: J3KNN1
uniprot id: Q9HCQ5
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
messages: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3.
messages: Golgi apparatus membrane
messages: Membrane
messages: Specifically expressed in brain. Not expressed in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. In brain, it is expressed in cerebellum, frontal lobe, temporal lobe, putamen and spinal cord, weakly expressed in cerebral cortex. Not expressed in medulla and occipital pole.
messages: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
messages: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.

9606:KRR1
gene id: 9606:KRR1
uniprot id: Q13601
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the KRR1 family.
messages: Component of the ribosomal small subunit (SSU) processome (By similarity). Directly interacts with HIV-1 protein VPR. Also identified in a complex with NR3C1 and HIV-1 protein VPR.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Nucleus
messages: Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity).
messages: nucleolus

9606:MOB2
gene id: 9606:MOB2
uniprot id: Q70IA6
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MOB1/phocein family.
messages: Binds STK38 and STK38L.
messages: Nucleus
messages: Phosphorylated.
messages: Stimulates the autophosphorylation and kinase activity of STK38 and STK38L.
messages: perinuclear region

9606:ASCL1
gene id: 9606:ASCL1
uniprot id: P50553
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3.
messages: Nucleus
messages: Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. Involved in the regulation of neuroendocrine cell development in the glandular stomach (By similarity).

9606:SEPTIN3
gene id: 9606:SEPTIN3
uniprot id: Q9UH03
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
messages: Brain-specific.
messages: Cytoplasm
messages: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).
messages: Phosphorylated by PKG on serine residues. Phosphorylated by PKG on Ser-91 (By similarity).
messages: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By similarity).
messages: Synapse
messages: Up-regulated during neuronal differentiation.
messages: cytoskeleton

9606:FAM98A
gene id: 9606:FAM98A
uniprot id: B4DT23
uniprot id: I6L9E8
uniprot id: Q8NCA5
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the FAM98 family.
messages: Expressed strongly in colorectal cancer cells (PubMed:28040436). Expressed strongly in colorectal cancer tissues compared to wild-type colon samples (at protein level) (PubMed:28040436). Expressed strongly in colorectal cancer tissues compared to wild-type colon samples (PubMed:28040436).
messages: Interacts (via N- and C-terminus) with DDX1 (PubMed:28040436). Interacts (via N- and C-terminus) with C14orf166 (PubMed:28040436). Interacts with FAM98B (PubMed:28040436). Interacts with PLEKHM1 (via N- and C-terminus) (By similarity).
messages: Positively stimulates PRMT1-induced protein arginine methylation (PubMed:28040436). Involved in skeletal homeostasis (By similarity). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity).

9606:FAM9C
gene id: 9606:FAM9C
uniprot id: Q8IZT9
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the FAM9 family.
messages: Expressed exclusively in testis.
messages: Nucleus

9606:NUDT18
gene id: 9606:NUDT18
uniprot id: Q6ZVK8
names: Function
names: Similarity
messages: Belongs to the Nudix hydrolase family.
messages: Mediates the hydrolysis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8-oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Hydrolyzes also 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolysis activity against 8-oxo-dGTP, 8-oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools.

9606:DPH5
gene id: 9606:DPH5
uniprot id: Q9H2P9
names: Function
names: Similarity
messages: Belongs to the diphthine synthase family.
messages: S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis.

9606:ZNF281
gene id: 9606:ZNF281
uniprot id: Q9Y2X9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Nucleus
messages: Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs (By similarity). Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G-rich box in the enhancer region of these genes.

9606:ASB13
gene id: 9606:ASB13
uniprot id: Q8WXK3
names: Domain
names: Function
names: Similarity
messages: Belongs to the ankyrin SOCS box (ASB) family.
messages: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

9606:WDR35
gene id: 9606:WDR35
uniprot id: Q9P2L0
names: Disease Annotation
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
messages: As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed:28400947, PubMed:29220510). May promote CASP3 activation and TNF-stimulated apoptosis.
messages: By TNF.
messages: Component of the IFT complex A (IFT-A) complex (PubMed:20889716, PubMed:27932497, PubMed:29220510). IFT-A complex is divided into a core subcomplex composed of IFT122:IFT140:WDR19 which is associated with TULP3 and a peripheral subcomplex composed of IFT43:WDR35:TTC21B (PubMed:27932497, PubMed:29220510). Interacts directy with IFT122, ITF43 and TTC21B (PubMed:29220510, PubMed:27932497). Interacts with IFT43 (PubMed:19450523).
messages: The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. SRTD7/20 can be caused by co-occurrence of WDR35 variant p.Trp311Leu and INTU p.Gln276Ter. One such patient has been reported.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. WDR35 mutations cause short rib-polydactyly syndrome through impaired cilia formation. Primary fibroblasts from SRTD7 patients lacking WDR35 fail to produce cilia (PubMed:21473986).
messages: centrosome
messages: cilium axoneme
messages: cilium basal body

9606:CCS
gene id: 9606:CCS
uniprot id: O14618
names: Cofactor
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds 1 zinc ion per subunit.
messages: Binds 2 copper ions per subunit.
messages: Cytoplasm
messages: Delivers copper to copper zinc superoxide dismutase (SOD1).
messages: Homodimer, and heterodimer with SOD1. Interacts with COMMD1. Interacts with XIAP/BIRC4.
messages: In the C-terminal section; belongs to the Cu-Zn superoxide dismutase family.
messages: Ubiquitinion by XIAP/BIRC4 leads to enhancement of its chaperone activity toward its physiologic target, SOD1, rather than proteasomal degradation. XIAP/BIRC4 preferentially ubiquitinates at Lys-241.
messages: Ubiquitous.

9606:CHMP4C
gene id: 9606:CHMP4C
uniprot id: Q96CF2
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SNF7 family.
messages: Expressed in heart, spleen and kidney.
messages: Its overexpression strongly inhibits HIV-1 release.
messages: Late endosome membrane
messages: Midbody ring
messages: Phosphorylated at Ser-210 by AURKB during cytokinesis: together with ZFYVE19/ANCHR, phosphorylated CHMP4C retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis.
messages: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: upon phosphorylation by AURKB, together with ZFYVE19/ANCHR, retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ANCHR and VPS4 and subsequent abscission (PubMed:22422861, PubMed:24814515). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
messages: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. Self-associates. Interacts with CHMP2A. Interacts with CHMP4A. Interacts with CHMP4B. Interacts with CHMP6. Interacts with VPS4A. Interacts with PDCD6IP; the interaction is direct.
messages: The acidic C-terminus and the basic N-terminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components (By similarity).
messages: cytosol

9606:AURKAIP1
gene id: 9606:AURKAIP1
uniprot id: Q9NWT8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the mitochondrion-specific ribosomal protein mS38 family.
messages: Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins (PubMed:23908630, PubMed:25838379). Interacts with Aurora-A (PubMed:12244051).
messages: May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation.
messages: Mitochondrion
messages: Nucleus
messages: Ubiquitously expressed and especially highly expressed in heart, skeletal muscle and testis.

9606:DEFA1
gene id: 9606:DEFA1
uniprot id: P59665
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HIV-1 surface protein gp120.
messages: (Microbial infection) Interacts with herpes virus 1 (HHV1) envelope glycoprotein B; this interaction inhibits viral infection.
messages: ADP-ribosylation drastically reduces cytotoxic and antibacterial activities, and enhances IL8 production.
messages: Belongs to the alpha-defensin family.
messages: Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses or by promoting the activation and maturation of some APCs (PubMed:15616305, PubMed:17142766, PubMed:20220136, PubMed:24236072). Interacts with the essential precursor of cell wall synthesis lipid II to inhibit bacterial cell wall synthesis (PubMed:20214904). Inhibits adenovirus infection via inhibition of viral disassembly at the vertex region, thereby restricting the release of internal capsid protein pVI, which is required for endosomal membrane penetration during cell entry (PubMed:18191790). In addition, interaction with adenovirus capsid leads to the redirection of viral particles to TLR4 thereby promoting a NLRP3-mediated inflammasome response and interleukin 1-beta (IL-1beta) release (PubMed:35080426). Induces the production of proinflammatory cytokines including type I interferon (IFN) in plasmacytoid dendritic cells (pDCs) by triggering the degradation of NFKBIA and nuclear translocation of IRF1, both of which are required for activation of pDCs (PubMed:27031443).
messages: Phosphorylation at Tyr-85 has been found in some cancer cell lines, and interferes with ADP-ribosylation.
messages: Secreted
messages: Tetramer (PubMed:24236072). Dimer (PubMed:17452329, PubMed:24236072). Interacts with RETN (PubMed:15064728).

9606:TMED7
gene id: 9606:TMED7
uniprot id: Q9Y3B3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the EMP24/GP25L family.
messages: COPI-coated vesicle membrane
messages: COPII-coated vesicle membrane
messages: Endoplasmic reticulum membrane
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: N-linked glycosylated in complex form containing terminal sialic acid.
messages: Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a role in the biosynthesis of secreted cargo including processing and post-translational modifications.
messages: Predominantly monomeric and to lesser extent homodimeric in endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment and cis-Golgi network. Oligomerizes with other members of the EMP24/GP25L family such as TMED2, TMED9 and TMED10. Interacts (via C-terminus) with COPG1; the interaction involves dimeric TMED7.
messages: cis-Golgi network membrane

9606:COL11A2
gene id: 9606:COL11A2
uniprot id: P13942
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts.
messages: Belongs to the fibrillar collagen family.
messages: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
messages: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
messages: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II).
messages: extracellular matrix

9606:HSPB8
gene id: 9606:HSPB8
uniprot id: Q9UJY1
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small heat shock protein (HSP20) family.
messages: By 17-beta-estradiol.
messages: Cytoplasm
messages: Displays temperature-dependent chaperone activity.
messages: Monomer. Interacts with HSPB1. Interacts with DNAJB6. Interacts with BAG3 (PubMed:28144995).
messages: Nucleus
messages: Predominantly expressed in skeletal muscle and heart.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Was reported to have a protein kinase activity and to act as a Mn(2+)-dependent serine-threonine-specific protein kinase.

9606:IDH3B
gene id: 9606:IDH3B
uniprot id: A0A087WZN1
uniprot id: A0A087X2E5
uniprot id: O43837
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the isocitrate and isopropylmalate dehydrogenases family.
messages: Heterooligomer of subunits alpha (IDH3A), beta (IDH3B), and gamma (IDH3G) in the apparent ratio of 2:1:1. The heterodimer containing one IDH3A and one IDH3B subunit and the heterodimer containing one IDH3A and one IDH3G subunit assemble into a heterotetramer (which contains two subunits of IDH3A, one of IDH3B and one of IDH3G) and further into the heterooctamer.
messages: Mitochondrion
messages: Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The heterotetramer and the heterodimer composed of IDH3A and IDH3G subunits can be allosterically activated by citrate (CIT) or/and ADP, and the two activators can act independently or synergistically. The heterodimer composed of IDH3A and IDH3B subunits cannot be allosterically regulated and the allosteric regulation of the heterotetramer is through the IDH3G subunit and not the IDH3B subunit. The IDH3G subunit contains the allosteric site which consists of a CIT-binding site and an ADP-binding site, and the binding of CIT and ADP causes conformational changes at the allosteric site which are transmitted to the active site in the catalytic subunit (IDH3A) through a cascade of conformational changes at the heterodimer interface, leading to stabilization of the isocitrate-binding at the active site and thus activation of the enzyme. ATP can activate the heterotetramer and the heterodimer composed of IDH3A and IDH3G subunits at low concentrations but inhibits their activities at high concentrations, whereas ATP exhibits only inhibitory effect on the heterodimer composed of IDH3A and IDH3B subunits.

9606:CAPN14
gene id: 9606:CAPN14
uniprot id: A8MX76
uniprot id: B7Z467
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the peptidase C2 family.
messages: Calcium-regulated non-lysosomal thiol-protease.
messages: Not expressed in tissues tested.

9606:NPS
gene id: 9606:NPS
uniprot id: P0C0P6
names: Function
names: Subcellular Location Annotation
messages: Modulates arousal and anxiety. May play an important anorexigenic role (By similarity). Binds to its receptor NPSR1 with nanomolar affinity to increase intracellular calcium concentrations (PubMed:15312648, PubMed:16790440).
messages: Secreted

9606:PIGO
gene id: 9606:PIGO
uniprot id: Q8TEQ8
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily.
messages: Endoplasmic reticulum membrane
messages: Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond.
messages: Forms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:DNASE1L3
gene id: 9606:DNASE1L3
uniprot id: A0A024R365
uniprot id: Q13609
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the DNase I family.
messages: Endoplasmic reticulum
messages: Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA (PubMed:9070308, PubMed:9714828, PubMed:14646506, PubMed:10807908, PubMed:27293190). Acts in internucleosomal DNA fragmentation (INDF) during apoptosis and necrosis (PubMed:23229555, PubMed:24312463). The role in apoptosis includes myogenic and neuronal differentiation, and BCR-mediated clonal deletion of self-reactive B cells (By similarity). Is active on chromatin in apoptotic cell-derived membrane-coated microparticles and thus suppresses anti-DNA autoimmunity (PubMed:27293190). Together with DNASE1, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity).
messages: Inhibited by zinc.
messages: Liver and spleen.
messages: Nucleus
messages: Poly-ADP-ribosylated by PARP1. ADP-ribosylation negatively regulates enzymatic activity during apoptosis.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:FERMT3
gene id: 9606:FERMT3
uniprot id: Q86UX7
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the kindlin family.
messages: Highly expressed in lymph node. Expressed in thymus, spleen and leukocytes. Weakly expressed in placenta, small intestine, stomach, testis and lung. Overexpressed in B-cell malignancies.
messages: Interacts with ITGB1, ITGB2 and ITGB3 (via cytoplasmic tails).
messages: Isoform 2 may act as a repressor of NF-kappa-B and apoptosis.
messages: Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).
messages: The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: podosome

9606:C14orf119
gene id: 9606:C14orf119
uniprot id: Q9NWQ9
names: Subcellular Location Annotation
messages: Mitochondrion

9606:GJB6
gene id: 9606:GJB6
uniprot id: A0A024RDS4
uniprot id: O95452
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A connexon is composed of a hexamer of connexins.
messages: A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).
messages: Belongs to the connexin family.
messages: Belongs to the connexin family. Beta-type (group I) subfamily.
messages: Cell membrane
messages: Membrane
messages: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: gap junction

9606:ZNF648
gene id: 9606:ZNF648
uniprot id: Q5T619
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:FSIP1
gene id: 9606:FSIP1
uniprot id: A0A024R9J2
uniprot id: Q8NA03
names: Similarity
messages: Belongs to the FSIP1 family.

9606:DNAJC9
gene id: 9606:DNAJC9
uniprot id: Q8WXX5
names: Domain
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a dual histone chaperone and heat shock co-chaperone (PubMed:33857403). As a histone chaperone, forms a co-chaperone complex with MCM2 and histone H3-H4 heterodimers; and may thereby assist MCM2 in histone H3-H4 heterodimer recognition and facilitate the assembly of histones into nucleosomes (PubMed:33857403). May also act as a histone co-chaperone together with TONSL (PubMed:33857403). May recruit histone chaperones ASF1A, NASP and SPT2 to histone H3-H4 heterodimers (PubMed:33857403). Also plays a role as co-chaperone of the HSP70 family of molecular chaperone proteins, such as HSPA1A, HSPA1B and HSPA8 (PubMed:17182002, PubMed:33857403). As a co-chaperone, may play a role in the recruitment of HSP70-type molecular chaperone machinery to histone H3-H4 substrates, thereby maintaining the histone structural integrity (PubMed:33857403). Exhibits activity to assemble histones onto DNA in vitro (PubMed:33857403).
messages: By heat shock, bacterial lipopolysaccharides (LPS), phorbol 12-myristate 13-acetate (PMA), and the cytokine TNF (at protein level).
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, thymus, ovary, colon and peripheral blood.
messages: Forms a co-chaperone complex with MCM2 and histone H3.3-H4 heterodimers (PubMed:33857403). Within the complex, interacts (via C-terminus) with MCM2 (via N-terminus); the interaction is histone-dependent (PubMed:33857403). Within the complex, interacts (via C-terminus) with histone H3.3-H4 heterodimers; the interaction is direct (PubMed:33857403). Interacts with histones H4, H3.3, H3.2 and H3.1, but not with CENPA or the testis-specific histone H3.1t (PubMed:33857403). Interacts (via J domain) with HSPA1A, HSPA1B and HSPA8 (PubMed:17182002, PubMed:33857403). May interact with TONSL; the interaction seems to be histone-dependent (PubMed:33857403). May interact with HSPA8 and BAG2; the interactions seem to be histone-dependent (PubMed:33857403).
messages: Nucleus
messages: The functional J domain is required for the release from histone-dependent chromatin-binding.

9606:C17orf67
gene id: 9606:C17orf67
uniprot id: Q0P5P2
names: Subcellular Location Annotation
messages: Secreted

9606:NAP1L1
gene id: 9606:NAP1L1
uniprot id: A0A024RBB7
uniprot id: B7Z2V4
uniprot id: F5H4R6
uniprot id: F8W543
uniprot id: P55209
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Chikungunya virus non-structural protein 3 (via C-terminus).
messages: (Microbial infection) Interacts with hepatitis virus protein NS5A (via C-terminus); this interaction sequesters NAP1L1 in the cytoplasm, blocking its nuclear translocation.
messages: (Microbial infection) Interacts with human herpesvirus 8 protein LANA1 (via N-terminus); this interaction is required for LANA1-dependent DNA replication.
messages: (Microbial infection) Positively regulates Epstein-Barr virus reactivation in epithelial cells through the induction of viral BZLF1 expression.
messages: (Microbial infection) Together with human herpesvirus 8 protein LANA1, assists the proper assembly of the nucleosome on the replicated viral DNA.
messages: Belongs to the nucleosome assembly protein (NAP) family.
messages: Cytoplasm
messages: Histone chaperone that plays a role in the nuclear import of H2A-H2B and nucleosome assembly (PubMed:20002496, PubMed:21211722, PubMed:26841755). Participates also in several important DNA repair mechanisms: greatly enhances ERCC6-mediated chromatin remodeling which is essential for transcription-coupled nucleotide excision DNA repair (PubMed:28369616). Stimulates also homologous recombination (HR) by RAD51 and RAD54 which is essential in mitotic DNA double strand break (DSB) repair (PubMed:24798879). Plays a key role in the regulation of embryonic neurogenesis (By similarity). Promotes the proliferation of neural progenitors and inhibits neuronal differentiation during cortical development (By similarity). Regulates neurogenesis via the modulation of RASSF10; regulates RASSF10 expression by promoting SETD1A-mediated H3K4 methylation at the RASSF10 promoter (By similarity).
messages: Homodimer (PubMed:26841755). The dimer binds strongly and sequentially to single and double H2A-H2B heterodimers (PubMed:26841755). Interacts with ERCC6; this interaction increases ERCC6 processivity (PubMed:28369616). Interacts with RAD54 (PubMed:24798879). Interacts with SETD1A (By similarity).
messages: Melanosome
messages: Monoglycylated on glutamate residues. Cannot be polyglycylated due to the absence of functional TTLL10 in human (By similarity).
messages: Nucleus
messages: Polyglutamylated by TTLL4 on glutamate residues, resulting in polyglutamate chains on the gamma-carboxyl group. Both polyglutamylation and monoglycylation modifications can coexist on the same protein on adjacent residues, and lowering polyglycylation levels increases polyglutamylation, and reciprocally.
messages: The NAP1L motif is required for the histone chaperone activity.
messages: The acidic domains are probably involved in the interaction with histones.
messages: Ubiquitously expressed.

9606:NEB
gene id: 9606:NEB
uniprot id: P20929
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Monomer and homooligomer (PubMed:23615443). Interacts with TTN/titin (PubMed:12482578). Interacts with SVIL (PubMed:18639526). Interacts (via nebulin repeats 160-164) with DES (PubMed:23615443).
messages: Muscle specific. Located in the thin filament of striated muscle.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.
messages: cytoskeleton
messages: sarcomere

9606:DEFB131A
gene id: 9606:DEFB131A
uniprot id: P59861
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the beta-defensin family.
messages: Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion (PubMed:26649771).
messages: Highly expressed in testis. Is moderately expressed in the prostate and small intestine.
messages: Secreted
messages: Up-regulated upon stimulation with lipoteichoic acid.

9606:MAMSTR
gene id: 9606:MAMSTR
uniprot id: Q6ZN01
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in skeletal muscle, brain, placenta and spleen.
messages: Interacts with MEF2C.
messages: Nucleus
messages: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity).

9606:TLR8
gene id: 9606:TLR8
uniprot id: Q9NR97
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by RNAs having enough uridines.
messages: Belongs to the Toll-like receptor family.
messages: Endosomal receptor that plays a key role in innate and adaptive immunity (PubMed:25297876, PubMed:32433612). Controls host immune response against pathogens through recognition of RNA degradation products specific to microorganisms that are initially processed by RNASET2 (PubMed:31778653). Recognizes GU-rich single-stranded RNA (GU-rich RNA) derived from SARS-CoV-2, SARS-CoV-1 and HIV-1 viruses (PubMed:33718825). Upon binding to agonists, undergoes dimerization that brings TIR domains from the two molecules into direct contact, leading to the recruitment of TIR-containing downstream adapter MYD88 through homotypic interaction (PubMed:23520111, PubMed:25599397, PubMed:26929371, PubMed:33718825). In turn, the Myddosome signaling complex is formed involving IRAK4, IRAK1, TRAF6, TRAF3 leading to activation of downstream transcription factors NF-kappa-B and IRF7 to induce pro-inflammatory cytokines and interferons, respectively (PubMed:16737960, PubMed:17932028, PubMed:29155428).
messages: Endosome membrane
messages: Expressed in myeloid dendritic cells, monocytes, and monocyte-derived dendritic cells.
messages: Homodimer (PubMed:23520111, PubMed:25599397, PubMed:26929371, PubMed:29155428). Interacts with MYD88 via their respective TIR domains (Probable). Interacts with UNC93B1 (By similarity). Interacts with BTK (PubMed:17932028). Interacts with SMPDL3B (By similarity).
messages: Proteolytic processing occurs in monocytes and monocyte-derived macrophages by both furin-like proprotein convertase and cathepsins (PubMed:25297876). The cleavage is necessary for dimer formation and subsequent activation (PubMed:26929371).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by RNF216; leading to degradation by the proteasome.

9606:CUL7
gene id: 9606:CUL7
uniprot id: Q14999
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with SV40 Large T antigen; this interaction seems to inhibit CUL7.
messages: According to a report, may not be neddylated despite the conserved consensus site for neddylation at Lys-1576.
messages: Belongs to the cullin family.
messages: Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1. Part of a Cul7-RING complex consisting of CUL7, RBX1, SKP1 and FBXW8. Interacts with a complex of SKP1 and FBXW8, but not with SKP1 alone. Interacts with CUL9; leading to inhibit CUL9 activity. Interacts with FBXW8; interaction is mutually exclusive of binding to CUL9 or p53/TP53. Interacts with p53/TP53; the interaction preferentially involves tetrameric and dimeric p53/TP53. The CUL7-CUL9 heterodimer seems to interact specifically with p53/TP53. Interacts with CUL1; the interactions seems to be mediated by FBXW8. Interacts with OBSL1. Interacts (as part of the 3M complex) with HDAC4 and HDAC5; it is negatively regulated by ANKRA2.
messages: Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediates the ubiquitination of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695). Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5 (PubMed:24793696). Core component of a Cul7-RING ubiquitin-protein ligase with FBXW8, which mediates ubiquitination and consequent degradation of target proteins such as GORASP1, IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026). Ubiquitination of GORASP1 regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Acts as a regulator in trophoblast cell epithelial-mesenchymal transition and placental development (PubMed:20139075). Does not promote polyubiquitination and proteasomal degradation of p53/TP53 (PubMed:16547496, PubMed:17332328). While the Cul7-RING(FBXW8) and the 3M complexes are associated and involved in common processes, CUL7 and the Cul7-RING(FBXW8) complex may be have additional functions.
messages: Cytoplasm
messages: Golgi apparatus
messages: Highly expressed in fetal kidney and adult skeletal muscle. Also abundant in fetal brain, as well as in adult pancreas, kidney, placenta and heart. Detected in trophoblasts, lymphoblasts, osteoblasts, chondrocytes and skin fibroblasts.
messages: Highly expressed in invasive placental villi during first trimester.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome
messages: perinuclear region

9606:CARM1
gene id: 9606:CARM1
uniprot id: Q86X55
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HTLV-1 protein Tax.
messages: Auto-methylated on Arg-550. Methylation enhances transcription coactivator activity. Methylation is required for its role in the regulation of pre-mRNA alternative splicing (By similarity).
messages: Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.
messages: Chromosome
messages: Cytoplasm
messages: Homodimer (By similarity). Interacts with NR1H4 (PubMed:15471871). Interacts with SNRPC (By similarity). Interacts with the C-terminus of NCOA2/GRIP1, NCO3/ACTR and NCOA1/SRC1 (By similarity). Part of a complex consisting of CARM1, EP300/P300 and NCOA2/GRIP1 (By similarity). Interacts with FLII, TP53, myogenic factor MEF2, EP300/P300, TRIM24, CREBBP and CTNNB1 (By similarity). Interacts with RELA (PubMed:16497732). Identified in a complex containing CARM1, TRIM24 and NCOA2/GRIP1 (By similarity). Interacts with NCOA3/SRC3 (By similarity). Interacts with SKP2 (By similarity). Interacts (via PH domain-like fold) with C9orf72 (By similarity). Interacts with PARP1; promoting PARP1 recruimtent to replication forks (PubMed:33412112).
messages: Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability (PubMed:12237300, PubMed:16497732, PubMed:19405910). Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at 'Arg-17' (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activates transcription via chromatin remodeling (PubMed:12237300, PubMed:16497732, PubMed:19405910). During nuclear hormone receptor activation and TCF7L2/TCF4 activation, acts synergically with EP300/P300 and either one of the p160 histone acetyltransferases NCOA1/SRC1, NCOA2/GRIP1 and NCOA3/ACTR or CTNNB1/beta-catenin to activate transcription (By similarity). During myogenic transcriptional activation, acts together with NCOA3/ACTR as a coactivator for MEF2C (By similarity). During monocyte inflammatory stimulation, acts together with EP300/P300 as a coactivator for NF-kappa-B (By similarity). Acts as coactivator for PPARG, promotes adipocyte differentiation and the accumulation of brown fat tissue (By similarity). Plays a role in the regulation of pre-mRNA alternative splicing by methylation of splicing factors (By similarity). Also seems to be involved in p53/TP53 transcriptional activation (By similarity). Methylates EP300/P300, both at 'Arg-2142', which may loosen its interaction with NCOA2/GRIP1, and at 'Arg-580' and 'Arg-604' in the KIX domain, which impairs its interaction with CREB and inhibits CREB-dependent transcriptional activation (PubMed:15731352). Also methylates arginine residues in RNA-binding proteins PABPC1, ELAVL1 and ELAV4, which may affect their mRNA-stabilizing properties and the half-life of their target mRNAs (By similarity). Acts as a transcriptional coactivator of ACACA/acetyl-CoA carboxylase by enriching H3R17 methylation at its promoter, thereby positivel…
messages: Methylation of H3R17 (H3R17me) by CARM1 is stimulated by preacetylation of H3 'Lys-18' (H3K18ac) H3 'Lys-23' (H3K23ac) by EP300 and blocked by citrullination of H3 'Arg-17' (H3R17ci) by PADI4.
messages: Nucleus
messages: Overexpressed in prostate adenocarcinomas and high-grade prostatic intraepithelial neoplasia.
messages: Phosphorylation at Ser-216 is strongly increased during mitosis, and decreases rapidly to a very low, basal level after entry into the G1 phase of the cell cycle (PubMed:19843527). Phosphorylation at Ser-216 may promote location in the cytosol. Phosphorylation at Ser-216 interferes with S-adenosyl-L-methionine binding and strongly reduces methyltransferase activity (By similarity).

9606:ZDHHC24
gene id: 9606:ZDHHC24
uniprot id: E9PI61
uniprot id: E9PLR9
uniprot id: Q6UX98
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the DHHC palmitoyltransferase family.
messages: Membrane
messages: Probable palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates.
messages: The DHHC domain is required for palmitoyltransferase activity.

9606:MYH10
gene id: 9606:MYH10
uniprot id: A0A8I5KZ38
uniprot id: G1UI33
uniprot id: P35580
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associated with severe intellectual disability, microcephaly, and feeding difficulties as well as cerebral atrophy.
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
messages: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9.
messages: Isoform 1 is expressed in cerebellum and spinal chord. Isoform 2 is expressed in cerebrum and retina. Isoform 3 is expressed in the cerebrum and to a much lower extent in cerebellum.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with PLEKHG6 (PubMed:16721066). Interacts with ECPAS (PubMed:20682791). Interacts with KIF26B (By similarity). Interacts with LARP6 (PubMed:20603131). Interacts with MCC (PubMed:22480440). Interacts with CFAP95 (PubMed:28345668).
messages: Phosphorylated by ABL2.
messages: Represents a conventional non-muscle myosin. This protein should not be confused with the unconventional myosin-10 (MYO10).
messages: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
messages: lamellipodium

9606:HPS1
gene id: 9606:HPS1
uniprot id: Q92902
names: Disease Annotation
names: Function
names: Subunit
names: Tissue Specificity
messages: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).
messages: Component of the biogenesis of lysosome-related organelles complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4 (PubMed:20048159, PubMed:23084991). HPS1 cannot but BLOC-3 complex (heterodimer of HPS1 and HPS4) can interact with the GTP-bound form of RAB9A and RAB9B. HPS1 and BLOC-3 complex do not interact with the GDP-bound form of RAB9A and RAB9B (PubMed:20048159).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:STRN4
gene id: 9606:STRN4
uniprot id: Q59GV6
uniprot id: Q9NRL3
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the WD repeat striatin family.
messages: Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein.
messages: Cytoplasm
messages: Interacts with CTTNBP2; this interaction may regulate dendritic spine distribution of STRN4. Activation of glutamate receptors weakens the interaction with CTTNBP2 (By similarity). Interacts with CTTNBP2NL.
messages: Membrane
messages: The name 'Zinedin' probably originates from the name of the famous soccer player from Marseille (Zinedine Zidane).
messages: dendritic spine

9606:MTFMT
gene id: 9606:MTFMT
uniprot id: Q96DP5
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Fmt family.
messages: Composed of an N- and a C-terminal domain. The N-terminal domain carries the tetrahydrofolate (THF)-binding site and the C-terminal domain is presumably involved in positioning the Met-tRNA substrate for the formylation reaction.
messages: Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation.
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TMEM190
gene id: 9606:TMEM190
uniprot id: Q8WZ59
names: Subcellular Location Annotation
messages: Membrane

9606:SLC2A4
gene id: 9606:SLC2A4
uniprot id: P14672
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
messages: Cell membrane
messages: Endomembrane system
messages: Insulin-regulated facilitative glucose transporter, which plays a key role in removal of glucose from circulation. Response to insulin is regulated by its intracellular localization: in the absence of insulin, it is efficiently retained intracellularly within storage compartments in muscle and fat cells. Upon insulin stimulation, translocates from these compartments to the cell surface where it transports glucose from the extracellular milieu into the cell.
messages: Insulin-stimulated phosphorylation of TBC1D4 is required for GLUT4 translocation.
messages: Interacts with NDUFA9 (By similarity). Binds to DAXX (PubMed:11842083). Interacts via its N-terminus with SRFBP1 (PubMed:16647043). Interacts with TRARG1; the interaction is required for proper SLC2A4 recycling after insulin stimulation (By similarity).
messages: Palmitoylated (PubMed:28057756). Palmitoylation by ZDHHC7 controls the insulin-dependent translocation of GLUT4 to the plasma membrane (PubMed:28057756).
messages: Skeletal and cardiac muscles; brown and white fat.
messages: Sumoylated.
messages: The dileucine internalization motif is critical for intracellular sequestration.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: perinuclear region

9606:SGSM3
gene id: 9606:SGSM3
uniprot id: B4DVE3
uniprot id: B9A6J5
uniprot id: Q96HU1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small G protein signaling modulator family.
messages: Cytoplasm
messages: Interacts with GJA1. Interaction with GJA1 induces its degradation (By similarity). Interacts via its RUN domain with the C-terminal region of NF2. Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A, RAP2B and PDCD6IP. No interaction with RAB27A.
messages: May play a cooperative role in NF2-mediated growth suppression of cells.
messages: Widely expressed.

9606:GID8
gene id: 9606:GID8
uniprot id: Q9NWU2
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GID8 family.
messages: Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a positive regulator of Wnt signaling pathway by promoting beta-catenin (CTNNB1) nuclear accumulation (PubMed:28829046).
messages: Cytoplasm
messages: Homodimer; may also form higher oligomers (By similarity). Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5 (PubMed:17467196, PubMed:29911972). Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles (PubMed:29911972). Interacts with RANBP9. Part of a complex consisting of RANBP9, MKLN1 and GID8 (PubMed:12559565). Interacts with CTNNB1, AXIN1 and GSK3B (PubMed:28829046).
messages: Nucleus
messages: Polyubiquitinated through 'Lys-48'-polyubiquitin chains, leading to proteasomal degradation in the absence of Wnt stimulation.
messages: Up-regulated in colorectal cancer tissues (at protein level).

9606:PHF21A
gene id: 9606:PHF21A
uniprot id: Q96BD5
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. In the complex, it interacts directly with HDAC1, HDAC2, HMG20B/BRAF35, KDM1A and RCOR1/CoREST.
messages: Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation.
messages: Highly expressed in brain (PubMed:31649809). Expressed at lower level in other tissues, including heart, kidney, liver, lung and skeletal muscle (PubMed:31649809). Abundantly expressed in fetal brain (PubMed:31649809).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CHRND
gene id: 9606:CHRND
uniprot id: Q07001
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily.
messages: Cell membrane
messages: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII (PubMed:15609996).
messages: Postsynaptic cell membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NAA10
gene id: 9606:NAA10
uniprot id: B7Z9N2
uniprot id: P41227
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autoacetylated at Lys-136 which stimulates its catalytic activity.
messages: Belongs to the acetyltransferase family. ARD1 subfamily.
messages: Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19826488, PubMed:19420222, PubMed:20145209, PubMed:27708256, PubMed:25489052, PubMed:29754825, PubMed:20154145, PubMed:32042062). Acetylates amino termini that are devoid of initiator methionine (PubMed:19420222). The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation (PubMed:12464182). Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration (PubMed:19826488). Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development (PubMed:20145209). Acetylates HSPA1A and HSPA1B at 'Lys-77' which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX (PubMed:27708256). Acetylates HIST1H4A (PubMed:29754825). Acts as a negative regulator of sister chromatid cohesion during mitosis (PubMed:27422821).
messages: Cleaved by caspases during apoptosis.
messages: Component of the N-terminal acetyltransferase A complex (also called the NatA complex) composed of NAA10 and NAA15 (PubMed:20154145, PubMed:15496142, PubMed:32042062). Within the complex interacts with NAA15 (PubMed:15496142, PubMed:20154145, PubMed:29754825, PubMed:32042062). Component of the N-terminal acetyltransferase A (NatA)/HYPK complex at least composed of NAA10, NAA15 and HYPK, which has N-terminal acetyltransferase activity (PubMed:20154145, PubMed:29754825, PubMed:32042062). In complex with NAA15, interacts with HYPK (PubMed:20154145, PubMed:29754825, PubMed:32042062). Component of the N-terminal acetyltransferase E (NatE) complex at least composed of NAA10, NAA15 and NAA50 (PubMed:29754825, PubMed:32042062). Within the complex interacts with NAA15; the interaction is required for binding to NAAT50 (PubMed:29754825, PubMed:32042062). Interacts with NAAT50 (PubMed:16507339, PubMed:32042062). The interaction of the NatA complex with NAA50 reduces the acetylation activity of the NatA complex (PubMed:32042062). Component of the N-terminal acetyltransferase E (NatE)/HYPK complex at least composed of NAA10, NAA15, NAA50 and HYPK (PubMed:32042062). In complex with NAA15, interacts with HYPK; the interaction with HYPK reduces the capacity of the NatA complex to interact with NAA50 (PubMed:29754825, PubMed:32042062). Interacts with HIF1A (via its ODD domain); the interaction increases HIF1A protein stability during normoxia, an down-regulates it when induced by hypoxia (PubMed:12464182). Interacts with the ribosome (PubMed:16507339). Binds to MYLK (PubMed:19826488). Interacts with NAA16 (PubMed:19480662). Interacts (via its C-terminal domain) with TSC2, leading to its acetylation (PubMed:20145209). Interacts with IKBKB (PubMed:19716809). Interacts with HSPA1A and HSPA1B leading to its acetylation (PubMed:27708256).
messages: Cytoplasm
messages: Nucleus
messages: Phosphorylation by IKBKB/IKKB at Ser-209 promotes its proteasome-mediated degradation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:C3orf20
gene id: 9606:C3orf20
uniprot id: Q8ND61
names: Subcellular Location Annotation
messages: Membrane

9606:SEC24B
gene id: 9606:SEC24B
uniprot id: B4DTM6
uniprot id: O95487
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SEC23/SEC24 family. SEC24 subfamily.
messages: COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and SAR1 (PubMed:10075675, PubMed:17499046). Interacts with STING1; promoting STING1 translocation to COPII vesicles in a STEEP1-dependent manner (PubMed:32690950). Interacts with RNF139 (PubMed:19706601). Interacts with TMED2 and TMED10 (PubMed:20427317). Interacts with CNIH4 (PubMed:24405750).
messages: COPII-coated vesicle membrane
messages: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296).
messages: Endoplasmic reticulum membrane
messages: Membrane
messages: cytosol

9606:ARTN
gene id: 9606:ARTN
uniprot id: Q5T4W7
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TGF-beta family. GDNF subfamily.
messages: Expressed during embryogenesis. High level expression seen in fetal kidney and lung while a low level expression seen in the fetal brain.
messages: Homodimer; disulfide-linked. Binds to RET (By similarity).
messages: Ligand for the GFR-alpha-3-RET receptor complex but can also activate the GFR-alpha-1-RET receptor complex. Supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain. Strong attractant of gut hematopoietic cells thus promoting the formation Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue.
messages: Secreted
messages: Ubiquitous. Expressed at high levels in peripheral tissues including prostate, placenta, pancreas, heart, kidney, pituitary gland, lung and testis. Expressed at low levels in the brain.

9606:TMEM164
gene id: 9606:TMEM164
uniprot id: Q5U3C3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TMEM164 family.
messages: Membrane
messages: Positive regulator of ferroptosis. Selectively mediates ATG5-dependent autophagosome formation during ferroptosis, rather than during starvation, and regulates the degradation of ferritin, GPX4 and lipid droplets to increase iron accumulation and lipid peroxidation, thereby promoting ferroptotic cell death.

9606:PCDHGA11
gene id: 9606:PCDHGA11
uniprot id: Q9Y5H2
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:OR8B8
gene id: 9606:OR8B8
uniprot id: A0A126GW73
uniprot id: Q15620
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in the tongue and testis.
messages: Membrane
messages: Odorant receptor (Potential). May be involved in taste perception.

9606:ERP44
gene id: 9606:ERP44
uniprot id: Q9BS26
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
messages: Endoplasmic reticulum lumen
messages: Forms mixed disulfides with both ERO1A and ERO1B and cargo folding intermediates; the interactions with ERO1A and ERO1B result in their retention in the endoplasmic reticulum (PubMed:11847130, PubMed:29858230). Directly interacts with ITPR1 in a pH-, redox state- and calcium-dependent manner, but not with ITPR2 or ITPR3 (PubMed:15652484). The strength of this interaction inversely correlates with calcium concentration (By similarity).
messages: Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif (PubMed:11847130, PubMed:14517240). Inhibits the calcium channel activity of ITPR1 (PubMed:15652484). May have a role in the control of oxidative protein folding in the endoplasmic reticulum (PubMed:11847130, PubMed:29858230, PubMed:14517240). Required to retain ERO1A and ERO1B in the endoplasmic reticulum (PubMed:11847130, PubMed:29858230).
messages: Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and dithiothreitol.

9606:GRIPAP1
gene id: 9606:GRIPAP1
uniprot id: Q4V328
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Antibodies against GRIPAP1 have been found in sera of a patient who developed Raynaud's syndrome and telangiectasias.
messages: Early endosome membrane
messages: Functions as a scaffold protein to facilitate MAP3K1/MEKK1-mediated activation of the JNK1 kinase by phosphorylation, possibly by bringing MAP3K1/MEKK1 and JNK1 in close proximity.
messages: Interacts with GRIP1, GRIP2 and AMPA receptors (By similarity). Interacts (via C-terminus) with MAPK8/JNK1 and MAP3K1/MEKK1; the interaction promotes MAP3K1-mediated phosphorylation of MAPK8 (PubMed:17761173). Interacts (via N-terminus) with RAB4A (in GTP-bound form) (PubMed:20098723). Interacts (via C-terminus) with STX12 (By similarity).
messages: Probable cloning artifact.
messages: Proteolytically cleaved by caspase-3. A minor C-terminal proteolytic fragment of 30 kDa is produced. Proteolytic cleavage is required for JNK signaling activation.
messages: Recycling endosome membrane
messages: Regulates the endosomal recycling back to the neuronal plasma membrane, possibly by connecting early and late recycling endosomal domains and promoting segregation of recycling endosomes from early endosomal membranes. Involved in the localization of recycling endosomes to dendritic spines, thereby playing a role in the maintenance of dendritic spine morphology. Required for the activity-induced AMPA receptor recycling to dendrite membranes and for long-term potentiation and synaptic plasticity (By similarity).
messages: Synapse
messages: axon
messages: dendrite

9606:TRAF2
gene id: 9606:TRAF2
uniprot id: A0A024R8H5
uniprot id: Q12933
names: Activity Regulation
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TNF receptor-associated factor family.
messages: Belongs to the TNF receptor-associated factor family. A subfamily.
messages: Cytoplasm
messages: Has very low E3 ubiquitin ligase activity in the absence of sphingosine-1-phosphate. E3 ubiquitin ligase activity is strongly activated by cytoplasmic sphingosine-1-phosphate.
messages: Homotrimer (PubMed:8069916). Heterotrimer with TRAF1 (PubMed:8069916). Heterotrimer with TRAF3 (via TRAF domain) (PubMed:15383523, PubMed:20447407). The domain containing the RING-type and the first TRAF-type zinc finger can also form homodimers (in vitro) (PubMed:19810754). Interacts with TNFRSF1B/TNFR2 (PubMed:7639698, PubMed:8069916, PubMed:10206649). Interacts with TNFRSF5/CD40 (PubMed:9718306). Interacts with TNFRSF4, TNFRSF7/CD27, TNFRSF8/CD30, TNFRSF9/CD137, TNFRSF11A/RANK, TNFRSF13B/TACI, TNFRSF14, TNFRSF16/NGFR, TNFRSF17/BCMA, TNFRSF18/AITR, TNFRSF19/TROY, TNFRSF19L/RELT and EDAR (PubMed:8627180, PubMed:9153189, PubMed:9692890, PubMed:9488716, PubMed:9774460, PubMed:9607925, PubMed:9418902, PubMed:10037686, PubMed:10514511, PubMed:10809768, PubMed:10880535, PubMed:11035039, PubMed:10411888). Stimulation of TNF-alpha receptor TNFRSF1A leads to the formation of two distinct signaling complexes. Plasma membrane-bound complex I is composed of TNFRSF1A, TRADD, RIPK1, TRAF2 and BIRC2/c-IAP1 or BIRC3 which interacts with CHUCK/IKK-alpha, IKBKB/IKK-beta and IKBKG/IKK-gamma promoting cell survival (PubMed:21307340, PubMed:18981220). Subsequently, TRADD, RIPK1 and TRAF2 dissociate from TNFRSF1A and form cytoplasmic complex II with FADD and caspase CASP8 promoting cell apoptosis (PubMed:21307340). Interacts with TRADD (PubMed:10892748). Identified in a complex with TNFRSF1A, RIPK1 and IKBKB/IKK-beta (PubMed:18981220). Interacts with RIPK2 (PubMed:9705938). Interacts with BIRC2 and BIRC3 N-terminus; a single BIRC2 or BIRC3 molecule interacts with a heterotrimer formed by TRAF1 and TRAF2, or a TRAF2 homotrimer (PubMed:11907583, PubMed:19506082, PubMed:20447407, PubMed:20385093). Identified in a complex composed of TRAF2, TRAF3, BIRC2 and BIRC3 (By similarity). Interacts with BIRC2; the interaction promotes BIRC2 stability (PubMed:19506082). Interaction with BIRC2 and/or BIRC3 is essential for ubiquitination of IKBKE, degradation of NFKBIA and activation of NF-kappa-B (B…
messages: Phosphorylated at several serine residues within the first 128 amino acid residues. Phosphorylated at Thr-117 in response to signaling via TNF and TNFRSF1A. Phosphorylation at Thr-117 is required for 'Lys-63'-linked polyubiquitination, but not for 'Lys-48'-linked polyubiquitination. Phosphorylation at Thr-117 is important for interaction with IKKA and IKKB, activation of IKK and subsequent activation of NF-kappa-B.
messages: Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes 'Lys-63'-linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin-protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein levels by inhibiting their autoubiquitination and subsequent degradation; this does not depend on the TRAF2 RING-type zinc finger domain. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR. In complex with BIRC2 or BIRC3, promotes ubiquitination of IKBKE.
messages: The MATH/TRAF domain binds to receptor cytoplasmic domains.
messages: The RING-type zinc finger domain is essential for E3 ubiquitin-protein ligase activity. It is not essential for the stabilization of BIRC2, or for the ubiquitination of RIPK1 in response to TNFR1 signaling.
messages: The coiled coil domain mediates homo- and hetero-oligomerization.
messages: Undergoes both 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination. Polyubiquitinated via 'Lys-63'-linked ubiquitin in response to TNF signaling; this requires prior phosphorylation at Thr-117. 'Lys-63'-linked polyubiquitination promotes TRAF2-mediated activation of NF-kappa-B. Can be polyubiquitinated at several Lys residues via 'Lys-48'-linked ubiquitin chains in response to TNF signaling, leading to proteasomal degradation. Autoubiquitinated, leading to its subsequent proteasomal degradation. Polyubiquitinated by BIRC2 and SIAH2, leading to its subsequent proteasomal degradation. Deubiquitinated by CYLD, a protease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Ubiquination is inhibited by LRRC19; inhibits proteasomal degradation (PubMed:25026888).
messages: Was reported to interact with IL15RA (PubMed:10463949). However, this work was later retracted (PubMed:21357251).

9606:SLC2A13
gene id: 9606:SLC2A13
uniprot id: Q96QE2
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.
messages: Cell membrane
messages: Glycosylated.
messages: H(+)-myo-inositol cotransporter (PubMed:11500374). Can also transport related stereoisomers (PubMed:11500374).
messages: Induced by hyperosmotic stress.
messages: Predominantly expressed in the brain.

9606:CAPN10
gene id: 9606:CAPN10
uniprot id: Q9HC96
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Tissue Specificity
messages: Belongs to the peptidase C2 family.
messages: Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake.
messages: Detected in primary skeletal muscle cells (at protein level). Ubiquitous.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

9606:RP1L1
gene id: 9606:RP1L1
uniprot id: Q8IWN7
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with RP1; has a synergistic effect with RP1 in photoreceptor differentiation.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).
messages: Retinal-specific; expressed in photoreceptor.
messages: The C-terminal part contains a large repetitive region which contains an unusually high percentage of glutamine, glycine and above all glutamic acid residues.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: The exact length of RP1L1 is variable between individuals due to the presence of several length polymorphisms. The sequence shown here is that of allele RP1L1-1 and includes 3 repeats (from aa 1292-1342) with a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles, ranging from 3 to 8.
messages: cilium axoneme
messages: photoreceptor outer segment

9606:TNRC6A
gene id: 9606:TNRC6A
uniprot id: Q8NDV7
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Antibodies against TNRC6A are found in sera from patients with Sjoegren syndrome (SS), ataxia and sensor neuropathy diseases that developed autoantibodies against protein of the GWB structure. Autoantibodies were mapped to the GW-rich mid-part, the non-GW-rich region and the C-terminus of the protein.
messages: Belongs to the GW182 family.
messages: By exogenous short interfering RNA (siRNA).
messages: Interacts with AGO2 (PubMed:16284623, PubMed:16284622, PubMed:18690212, PubMed:19304925, PubMed:19324964, PubMed:19383768). Interacts with AGO1, AGO3 and AGO4 (PubMed:19324964, PubMed:19383768). Interacts with CNOT1; the interaction is direct and mediates the association with the CCR4-NOT complex (PubMed:21981923). Interacts with ZC3H12A (PubMed:26134560). Interacts with SND1 (PubMed:28546213). Interacts with GARRE1 (PubMed:29395067).
messages: P-body
messages: Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent repression of translation and for siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As a scaffolding protein, associates with argonaute proteins bound to partially complementary mRNAs, and can simultaneously recruit CCR4-NOT and PAN deadenylase complexes.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:PRAMEF1
gene id: 9606:PRAMEF1
uniprot id: B7ZM17
uniprot id: O95521
names: Similarity
messages: Belongs to the PRAME family.

9606:UBQLN1
gene id: 9606:UBQLN1
uniprot id: A0A024R258
uniprot id: Q9UMX0
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Brain (at protein level) (PubMed:18953672). Ubiquitous. Highly expressed throughout the brain; detected in neurons and in neuropathological lesions, such as neurofibrillary tangles and Lewy bodies. Highly expressed in heart, placenta, pancreas, lung, liver, skeletal muscle and kidney.
messages: Cell membrane
messages: Cytoplasm
messages: Degraded during both macroautophagy and during chaperone-mediated autophagy (CMA).
messages: Dimerization is dependent upon the central region of the protein containing the STI1 domains and is independent of its ubiquitin-like and UBA domains.
messages: Endoplasmic reticulum
messages: May be a prognostic marker for lung adenocarcinoma patient clinical outcome.
messages: Membrane
messages: Monomer and homodimer (PubMed:16813565). Heterodimer with UBQLN2 (PubMed:16813565). Binds CD47, NBL1, GABRA1, GABRA2, GABRA3, GABRA6, GABRB1, GABRB2 and GABRB3 (By similarity). Binds UBE3A, BTRC, P4HB and MTOR. Interacts with the proteasome 19S subunit. Interacts (via ubiquitin-like domain) with TREX1; the interaction is direct and may control TREX1 subcellular location. Forms a complex with UBXN4 and VCP. Interacts (via UBA domain) with UBQLN4 (via ubiquitin-like domain). Found in a complex with UBQLN2 and MAP1LC3A/B/C. The monomeric form interacts with PSEN2. The monomeric form interacts with PSEN1 (PubMed:11076969, PubMed:21143716). Interacts with ORAI1. Interacts (via UBA domain) with TICAM1. Interacts with EPS15. Interacts (via UBA domain) with UBA52 and (via ubiquitin-like domain) with PSMD3 and PSMD4. Interacts with HERPUD1. Interacts with MAP1LC3A/B/C in the presence of UBQLN4. Interacts (via ubiquitin-like domain) with EPS15 (via UIM domains) and both the ubiquitinated and non-ubiquitinated forms can interact with EPS15. Interacts (via ubiquitin-like domain) with EPS15L1, HGS (via UIM domain) and STAM2 (via UIM domain). Interacts with BCL2L10/BCL-B; in the cytoplasm (PubMed:22233804).
messages: Monomeric form interacts with PSEN1.
messages: Nucleus
messages: Phosphorylated.
messages: Plays a role in unfolded protein response (UPR) by attenuating the induction of UPR-inducible genes, DDTI3/CHOP, HSPA5 and PDIA2 during ER stress (PubMed:18953672). Plays a key role in the regulation of the levels of PSEN1 by targeting its accumulation to aggresomes which may then be removed from cells by autophagocytosis (PubMed:21143716).
messages: Plays a role in unfolded protein response (UPR) by attenuating the induction of UPR-inducible genes, DDTI3/CHOP, HSPA5 and PDIA2 during ER stress.
messages: Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:15147878). Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:19822669, PubMed:18307982). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957, PubMed:23459205). Negatively regulates the TICAM1/TRIF-dependent toll-like receptor signaling pathway by decreasing the abundance of TICAM1 via the autophagic pathway (PubMed:21695056). Promotes the ubiquitination and lysosomal degradation of ORAI1, consequently down-regulating the ORAI1-mediated Ca2+ mobilization (PubMed:23307288). Suppresses the maturation and proteasomal degradation of amyloid beta A4 protein (A4) by stimulating the lysine 63 (K63)-linked polyubiquitination. Delays the maturation of A4 by sequestering it in the Golgi apparatus and preventing its transport to the cell surface for subsequent processing (By similarity). Ubiquitinates BCL2L10 and thereby stabilizes protein abundance (PubMed:22233804).
messages: The UBA domain mediates binding to PSEN1 and PSEN2. It also binds ubiquitin with micromolar affinity, independently of polyubiquitin linkage type. Essential for its association with microtubule-associated protein 1 light chain 3 (MAP1LC3).
messages: The ubiquitin-like domain mediates its association with the subunits of the proteasome.
messages: Ubiquitinated.
messages: autophagosome

9606:GLB1L
gene id: 9606:GLB1L
uniprot id: A0A140VJK0
uniprot id: B4DTH1
uniprot id: Q6UWU2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glycosyl hydrolase 35 family.
messages: Probable glycosyl hydrolase.
messages: Secreted

9606:UBR4
gene id: 9606:UBR4
uniprot id: Q5T4S7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with Rift valley fever virus glycoprotein N; this interaction is important for viral RNA production.
messages: (Microbial infection) Interacts with protein E7 from papilloma virus HPV-16, HPV-6B and HPV-11.
messages: Belongs to the UBR4 family.
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Together with clathrin, forms meshwork structures involved in membrane morphogenesis and cytoskeletal organization. Regulates integrin-mediated signaling. May play a role in activation of FAK in response to cell-matrix interactions. Mediates ubiquitination of ACLY, leading to its subsequent degradation.
messages: Interacts with RB1 and calmodulin.
messages: Membrane
messages: Nucleus
messages: cytoskeleton

9606:KIAA1328
gene id: 9606:KIAA1328
uniprot id: Q86T90
names: Function
names: Subunit
names: Tissue Specificity
messages: Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes.
messages: Interacts (via N- and C-terminal domains) with SMC3 (via central hinge region).
messages: Widely expressed.

9606:DEFB118
gene id: 9606:DEFB118
uniprot id: A0A384MTK2
uniprot id: Q96PH6
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the beta-defensin family.
messages: Has antibacterial activity.
messages: High-level and epididymis-specific expression (PubMed:12600824). Most abundant in the epithelium of the caput and present in the epididymis lumen and bound to sperm (PubMed:12600824). Also expressed in pancreas (PubMed:12600824).
messages: Host defense peptide that exhibits antimicrobial activity against both Gram-negative bacteria, such as E.coli and S.typhimurium, and Gram-positive bacteria, such as S.aureus and B.subtilis (PubMed:15033915, PubMed:33224970). Inhibits cell adhesion of E.coli on intestinal epithelial enterocytes (PubMed:33224970). Causes rapid permeabilization of both the outer and inner membrane of E.coli, leading to morphological alterations on the bacterial surface (PubMed:15033915). Binds to bacterial lipopolysaccharides (LPS) with high affinity, and may thereby be involved in immunoregulation through LPS neutralization (PubMed:33181266). May contribute to epididymal innate immunity and protect the sperm against attack by microorganisms (PubMed:15033915).
messages: Secreted
messages: The three-dimensional structure formed by the three intramolecular disulfide bridges is indispensable for antimicrobial activity.

9606:SOD2
gene id: 9606:SOD2
uniprot id: A0A384NL29
uniprot id: G5E9P6
uniprot id: P04179
uniprot id: Q96AM7
uniprot id: Q9UG59
names: Cofactor
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation at Lys-122 decreases enzymatic activity. Deacetylated by SIRT3 upon exposure to ionizing radiations or after long fasting (By similarity).
messages: Belongs to the iron/manganese superoxide dismutase family.
messages: Binds 1 Mn(2+) ion per subunit.
messages: Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
messages: Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Expression is regulated by KRIT1.
messages: Homotetramer.
messages: Mitochondrion matrix
messages: Nitrated under oxidative stress. Nitration coupled with oxidation inhibits the catalytic activity.
messages: Polyubiquitinated; leading to proteasomal degradation. Deubiquitinated by USP36 which increases protein stability.

9606:LAPTM5
gene id: 9606:LAPTM5
uniprot id: Q13571
uniprot id: Q5TBB8
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the LAPTM4/LAPTM5 transporter family.
messages: Binds to ubiquitin.
messages: By retinoic acid.
messages: Lysosome membrane
messages: May have a special functional role during embryogenesis and in adult hematopoietic cells.
messages: Preferentially expressed in adult hematopoietic tissues. High levels in lymphoid and myeloid tissues. Highly expressed in peripheral blood leukocytes, thymus, spleen and lung, followed by placenta, liver and kidney.

9606:CCL1
gene id: 9606:CCL1
uniprot id: P22362
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the intercrine beta (chemokine CC) family.
messages: By phorbol myristate acetate (PMA).
messages: Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8.
messages: Monomer.
messages: Secreted

9606:CISD2
gene id: 9606:CISD2
uniprot id: Q8N5K1
names: Caution
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Although initially thought (PubMed:17846994) to be a zinc-finger protein, it was later shown (PubMed:17376863) that it binds 1 2Fe-2S cluster instead.
messages: Belongs to the CISD protein family. CISD2 subfamily.
messages: Binds 1 [2Fe-2S] cluster.
messages: Endoplasmic reticulum membrane
messages: Homodimer. Interacts with BCL2; the interaction is direct and disrupted by BIK interaction with BCL2. Interacts with BCL2L1. Interacts with ITPR1.
messages: Mitochondrion outer membrane
messages: Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy.
messages: Testis, small intestine, kidney, lung, brain, heart, pancreas and platelets.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:RHD
gene id: 9606:RHD
uniprot id: A0A1B1R0Y1
uniprot id: B4DLT8
uniprot id: E7EVW1
uniprot id: Q02161
uniprot id: Q1KT12
uniprot id: Q5XLS8
uniprot id: Q5XLT0
uniprot id: Q5XLT3
uniprot id: Q7RU08
uniprot id: Q9UPC8
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
messages: Cell membrane
messages: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
messages: Membrane
messages: Palmitoylated.
messages: RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a variant in position 110. Homozygous deletion of the RHD gene results in Rh-negative (dd) individuals (PubMed:1824267, PubMed:10845894). Some polymorhisms lead to weak RHD expression. This phenotype called weak D, formerly known as D(u), is observed in about 0.2% to 1% of Caucasians (PubMed:9864185). Moderately decreased RHD expression results in a phenotype called DHMi (PubMed:9864185).
messages: Restricted to tissues or cell lines expressing erythroid characters.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ACAN
gene id: 9606:ACAN
uniprot id: A0A5K1VW97
uniprot id: P16112
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the aggrecan/versican proteoglycan family.
messages: Contains mostly chondroitin sulfate, but also keratan sulfate chains, N-linked and O-linked oligosaccharides. The release of aggrecan fragments from articular cartilage into the synovial fluid at all stages of human osteoarthritis is the result of cleavage by aggrecanase.
messages: Expression was detected in chondrocytes throughout the developing skeleton.
messages: Interacts with FBLN1 (By similarity). Interacts with COMP.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Restricted to cartilages.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.
messages: Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while another globular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of three disulfide-bonded loop structures designated as the A, B, B' motifs. G2 is similar to G1. The keratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3.
messages: extracellular matrix

9606:EDC4
gene id: 9606:EDC4
uniprot id: Q6P2E9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the WD repeat EDC4 family.
messages: In the process of mRNA degradation, seems to play a role in mRNA decapping. Component of a complex containing DCP2 and DCP1A which functions in decapping of ARE-containing mRNAs. Promotes complex formation between DCP1A and DCP2. Enhances the catalytic activity of DCP2 (in vitro).
messages: Nucleus
messages: P-body
messages: Part of a decapping complex consisting of DCP1A, DCP2, EDC3, EDC4 and probably DDX6. Part of a complex consisting of DCP1A, EDC3, EDC4 and DDX6. Part of a complex consisting of DCP1B, EDC3, EDC4 and DDX6. Interacts with DCP2 (PubMed:16364915). Interacts with RC3H1 (By similarity). Interacts with NBDY (PubMed:27918561). Interacts with TEX19 (By similarity). Interacts with LSM14A (PubMed:29510985). Interacts with DDX6 (PubMed:31422817).

9606:UBXN1
gene id: 9606:UBXN1
uniprot id: A0A024R539
uniprot id: A0A024R598
uniprot id: A0A087WTZ5
uniprot id: Q04323
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts (via C-terminal UBX domain) with nipah virus protein V.
messages: Cytoplasm
messages: Interacts with MAVS; this interaction prevents MAVS oligomerization and thus disrupts the RLR signaling pathway (PubMed:23545497). Interacts with CUL1; this interaction inhibits CUL1-mediated degradation of NF-kappa-B inhibitors (PubMed:28152074). Interacts with BIRC2/c-IAP1; this interaction prevents TNFalpha-stimulated RIP1 ubiquitination and subsequent NF-kappa-B activation (PubMed:25681446). Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Interacts with HOMER2 (By similarity). Interacts directly with VCP. Interacts with BRCA1 and BARD1; interaction takes place when BRCA1 is not autoubiquitinated but is strongly enhanced in the presence of autoubiquitinated BRCA1.
messages: The UBA domain specifically recognizes and binds 'Lys-6'-linked polyubiquitin chains.
messages: Ubiquitin-binding protein that plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling (PubMed:23545497). Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibiting their recruitment to TNFR1 (PubMed:25681446). Prevents also the activation of NF-kappa-B by associating with CUL1 and thus inhibiting NF-kappa-B inhibitor alpha/NFKBIA degradation that remains bound to NF-kappa-B (PubMed:28152074). Interacts with the BRCA1-BARD1 heterodimer and regulates its activity. Specifically binds 'Lys-6'-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1 leads to the inhibition of the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer (PubMed:20351172). Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulum that are retrotranslocated in the cytosol.

9606:RAB40A
gene id: 9606:RAB40A
uniprot id: Q8WXH6
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Cell membrane
messages: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.

9606:OTUD5
gene id: 9606:OTUD5
uniprot id: A0A024QZ09
uniprot id: Q96G74
names: Activity Regulation
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C85 family.
messages: Deubiquitinating enzyme that functions as negative regulator of the innate immune system. Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production. Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Can also cleave 'Lys-11'-linked ubiquitin chains (in vitro). Controls neuroectodermal differentiation through cleaving 'Lys-48'-linked ubiquitin chains to counteract degradation of select chromatin regulators such as ARID1A, HDAC2 and HCF1 (PubMed:33523931).
messages: Dubious isoform produced through aberrant splice sites.
messages: Expressed in various tissues, including the liver and placenta, as well as in peripheral blood leukocytes.
messages: Inhibited by N-ethyl-maleimide (NEM).
messages: Interacts with TRAF3.
messages: Nucleus
messages: Phosphorylation at Ser-177 is required for deubiquitinating activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated by bacterial lipopolysaccharide (LPS) in bone marrow-derived macrophages.

9606:PDE4DIP
gene id: 9606:PDE4DIP
uniprot id: A0A075B749
uniprot id: Q5VU43
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD) associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Functions as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes (By similarity).
messages: Golgi apparatus
messages: Highly expressed in adult and fetal heart, in skeletal muscle and, to a lower extent, in brain and placenta.
messages: Interacts with PDE4D (By similarity). Isoform 13 interacts with MAPRE1 and MAPRE3 (PubMed:25217626, PubMed:28814570, PubMed:29162697). Isoform 13 forms a pericentrosomal complex with AKAP9, CDK5RAP2 and EB1/MAPRE1; within this complex, may mediate MAPRE1-binding to CDK5RAP2 (PubMed:29162697). Interaction of isoform 13 with AKAP9 stabilizes both proteins (PubMed:25217626, PubMed:27666745). Isoform 13 interacts (via N-terminus) with CAMSAP2; this interaction is much stronger in the presence of AKAP9 (PubMed:27666745). In complex with AKAP9, Isoform 13 recruits CAMSAP2 to the Golgi apparatus (PubMed:27666745, PubMed:28814570). Isoform 13 interacts with unglycosylated LGALS3BP; this interaction may connect the pericentrosomal complex to the gamma-tubulin ring complex (gamma-TuRC) to promote microtubule assembly and acetylation (PubMed:25217626, PubMed:29162697).
messages: Mutagenesis at position 311-312:LP->AA (loss of MAPRE1- and MAPRE3-binding and loss of association with microtubule ends, no effect on AKAP9- and CDK5RAP2-binding, relocalizes from EB1/MAPRE1 microtubule ends to centrosomal area).
messages: Participates in microtubule dynamics, promoting microtubule assembly. Depending upon the cell context, may act at the level of the Golgi apparatus or that of the centrosome (PubMed:25217626, PubMed:27666745, PubMed:28814570, PubMed:29162697). In complex with AKAP9, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with AKAP9, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension from the centrosome to the cell periphery, a crucial process for directed cell migration, mitotic spindle orientation and cell-cycle progression (PubMed:29162697).
messages: Probable cloning artifact.
messages: Residues 1-150 are involved in AKAP9-binding.
messages: Was initially reported to localize in the cytoplasm and nucleus (PubMed:11374908). However, many reports in different species have shown that it is associated with the Golgi apparatus and the centrosome.
messages: centrosome
messages: cytoskeleton

9606:OR10Q1
gene id: 9606:OR10Q1
uniprot id: Q8NGQ4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:NCOA3
gene id: 9606:NCOA3
uniprot id: Q59EE8
uniprot id: Q9Y6Q9
names: Activity Regulation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated by CREBBP. Acetylation occurs in the RID domain, and disrupts the interaction with nuclear receptors and regulates its function.
messages: Belongs to the SRC/p160 nuclear receptor coactivator family.
messages: Coactivator activity on nuclear receptors and NF-kappa-B pathways is enhanced by various hormones, and the TNF cytokine, respectively. TNF stimulation probably enhances phosphorylation, which in turn activates coactivator function. In contrast, acetylation by CREBBP apparently suppresses coactivation of target genes by disrupting its association with nuclear receptors. Binds to CSNK1D.
messages: Contains three Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. Motifs 1 and 2 are essential for the association with nuclear receptors, and constitute the RID domain (Receptor-interacting domain).
messages: Cytoplasm
messages: Interacts with CARM1 (By similarity). Present in a complex containing NCOA2, IKKA, IKKB, IKBKG and the histone acetyltransferase protein CREBBP. Interacts with CASP8AP2, NR3C1 and PCAF. Interacts with ATAD2 and this interaction is enhanced by estradiol. Found in a complex containing NCOA3, AR and MAK. Interacts with DDX5. Interacts with PSMB9. Interacts with NPAS2. Interacts with NR4A3 (By similarity). Interacts with ESRRB; mediates the interaction between ESRRB and RNA polymerase II complexes and allows NCOA3 corecruitment to ESRRB, KLF4, NANOG, and SOX2 enhancer regions to trigger ESRRB-dependent gene activation involved in self-renewal and pluripotency (By similarity).
messages: Methylated by CARM1.
messages: NCOA3 is frequently amplified or overexpressed in breast and ovarian cancers.
messages: Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via its interaction with the NFKB1 subunit.
messages: Nucleus
messages: Phosphorylated by IKK complex. Regulated its function. Phosphorylation at Ser-601 by CK1 promotes coactivator function.
messages: The length of the poly-Gln region is polymorphic in the normal population.
messages: Widely expressed. High expression in heart, skeletal muscle, pancreas and placenta. Low expression in brain, and very low in lung, liver and kidney.

9606:FPR2
gene id: 9606:FPR2
uniprot id: A0A024R4P3
uniprot id: P25090
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Staphylococcus aureus protein SSL13; this interaction leads to the activation of neutrophils.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Detected in lung, bone marrow, neutrophils, spleen and testis.
messages: Interacts with Amyloid-beta protein 42, product of APP; the interaction takes place at the cell surface and the complex is then rapidly internalized.
messages: Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophil chemotactic factors (PubMed:1374236). Binding of FMLP to the receptor causes activation of neutrophils (PubMed:1374236). This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:1374236). The activation of LXA4R could result in an anti-inflammatory outcome counteracting the actions of pro-inflammatory signals such as LTB4 (leukotriene B4) (PubMed:9547339). Receptor for the chemokine-like protein FAM19A5, mediating FAM19A5-stimulated macrophage chemotaxis and the inhibitory effect on TNFSF11/RANKL-induced osteoclast differentiation (By similarity). Acts as a receptor for humanin (PubMed:15465011).
messages: Membrane

9606:PRKAG2
gene id: 9606:PRKAG2
uniprot id: Q9UGJ0
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.
messages: AMPK is a heterotrimer of an alpha catalytic subunit (PRKAA1 or PRKAA2), a beta (PRKAB1 or PRKAB2) and a gamma non-catalytic subunits (PRKAG1, PRKAG2 or PRKAG3). Interacts with FNIP1 and FNIP2.
messages: Belongs to the 5'-AMP-activated protein kinase gamma subunit family.
messages: Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.
messages: Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK.
messages: The 4 CBS domains mediate binding to nucleotides. Of the 4 potential nucleotide-binding sites, 3 are occupied, designated as sites 1, 3, and 4 based on the CBS modules that provide the acidic residue for coordination with the 2'- and 3'-hydroxyl groups of the ribose of AMP. Of these, site 4 appears to be a structural site that retains a tightly held AMP molecule (AMP 3). The 2 remaining sites, 1 and 3, can bind either AMP, ADP or ATP. Site 1 (AMP, ADP or ATP 1) is the high-affinity binding site and likely accommodates AMP or ADP. Site 3 (AMP, ADP or ATP 2) is the weakest nucleotide-binding site on the gamma subunit, yet it is exquisitely sensitive to changes in nucleotide levels and this allows AMPK to respond rapidly to changes in cellular energy status. Site 3 is likely to be responsible for protection of a conserved threonine in the activation loop of the alpha catalytic subunit through conformational changes induced by binding of AMP or ADP.
messages: The AMPK pseudosubstrate motif resembles the sequence around sites phosphorylated on target proteins of AMPK, except the presence of a non-phosphorylatable residue in place of Ser. In the absence of AMP this pseudosubstrate sequence may bind to the active site groove on the alpha subunit (PRKAA1 or PRKAA2), preventing phosphorylation by the upstream activating kinase STK11/LKB1.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PWP1
gene id: 9606:PWP1
uniprot id: Q13610
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with the RNA polymerase (Pol I) complex (PubMed:29065309). Interacts with POLR1E (PubMed:29065309).
messages: Belongs to the WD repeat PWP1 family.
messages: Chromatin-associated factor that regulates transcription (PubMed:29065309). Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription (PubMed:29065309). Regulates the epigenetic status of rDNA (PubMed:29065309).
messages: Chromosome
messages: High levels seen in the placenta, skeletal muscle, kidney and pancreas while lower levels were seen in the heart, brain and lung.
messages: Nucleus
messages: nucleolus

9606:NARF
gene id: 9606:NARF
uniprot id: Q9UHQ1
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NARF family.
messages: Interacts with LMNA and binds to the farnesylated C-terminal domain.
messages: Nucleus
messages: Ubiquitous. Predominantly expressed in skeletal muscle, heart and brain.

9606:FAM24A
gene id: 9606:FAM24A
uniprot id: A6NFZ4
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the FAM24 family.
messages: Secreted

9606:DEUP1
gene id: 9606:DEUP1
uniprot id: Q05D60
names: Caution
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CEP63 family.
messages: CEP63 and DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, DEUP1 mediates de novo centriole amplification in multiciliated cells.
messages: Cytoplasm
messages: Interacts with CEP152; the interaction is mutually exclusive with CEP63.
messages: It is uncertain whether Met-1 or Met-9 is the initiator.
messages: Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis (By similarity).

9606:TMEM126A
gene id: 9606:TMEM126A
uniprot id: Q9H061
names: Disease Annotation
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TMEM126 family.
messages: Mitochondrion inner membrane
messages: Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TLCD3B
gene id: 9606:TLCD3B
uniprot id: F1T0F5
uniprot id: Q71RH2
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Endoplasmic reticulum membrane
messages: Expressed in testis (PubMed:33077892). Expressed in the retina with higher expression levels in the macular than in the peripheral region (PubMed:33077892).
messages: Golgi apparatus membrane
messages: Involved in ceramide synthesis.
messages: Membrane
messages: The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.

9606:PAGR1
gene id: 9606:PAGR1
uniprot id: Q9BTK6
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the KMT2 family MLL2/MLL3 complex (also named ASCOM complex), at least composed of the HMTs KMT2D and/or KMT2C, the common subunits ASH2L, RBBP5, WDR5 and DPY30, and the complex type-specific subunits PAXIP1/PTIP, PAGR1, NCOA6 and KDM6A; PAXIP1 is required for the association with the MLL2/MLL3 complex (PubMed:17500065). Forms a constitutive complex with PAXIP1/PTIP independently of the MLL2/MLL3 complex (By similarity). Interacts with NCOA1, ESR1, NR3C1, AR (PubMed:19039327,PubMed:19124460, PubMed:23161582).
messages: Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex (PubMed:19124460). However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switching in activated B-cells is involved in transcription regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus independently of the MLL2/MLL3 complex (By similarity). Involved in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition (PubMed:19039327). Acts as transcriptional cofactor for nuclear hormone receptors. Inhibits the induction properties of several steroid receptors such as NR3C1, AR and PPARG; the mechanism of inhibition appears to be gene-dependent (PubMed:23161582).
messages: Nucleus
messages: The terminology of MLL proteins in mammalia is not consistent also concerning the terminology of MLL protein-containing complexes. The decribed MLL2/MLL3 complex is commonly described as MLL3/MLL4 complex in literature.
messages: Ubiquitously expressed.

9606:BZW1
gene id: 9606:BZW1
uniprot id: Q7L1Q6
names: Developmental Stage
names: Function
names: Similarity
messages: Belongs to the BZW family.
messages: Expressed in day 3 embryo.
messages: Translation initiation regulator which represses repeat-associated non-AUG (RAN) initiated translation probably by acting as a competitive inhibitor of eukaryotic translation initiation factor 5 (EIF5) function (PubMed:29470543, PubMed:34260931). Enhances histone H4 gene transcription but does not seem to bind DNA directly (PubMed:11524015).

9606:ADPGK
gene id: 9606:ADPGK
uniprot id: Q9BRR6
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ADP-dependent glucokinase family.
messages: Binds 1 Mg(2+) ion per subunit.
messages: Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor. GDP and CDP can replace ADP, but with reduced efficiency (By similarity).
messages: Monomer.
messages: Secreted

9606:NRBP2
gene id: 9606:NRBP2
uniprot id: Q9NSY0
names: Domain
names: Function
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: Cytoplasm
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: May regulate apoptosis of neural progenitor cells during their differentiation.
messages: Probable cloning artifact.
messages: The protein kinase domain is predicted to be catalytically inactive.
messages: Wrong choice of CDS.

9606:MIGA1
gene id: 9606:MIGA1
uniprot id: B4DK63
uniprot id: B7ZLZ8
uniprot id: F8W7S1
uniprot id: Q8NAN2
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the mitoguardin family.
messages: Homodimer and heterodimer; forms heterodimers with MIGA2 (PubMed:26711011). Interacts with PLD6/MitoPLD (PubMed:26711011).
messages: It is uncertain whether Met-1 or Met-33 is the initiator.
messages: Mitochondrion outer membrane
messages: Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD.

9606:AK1
gene id: 9606:AK1
uniprot id: P00568
uniprot id: Q5T9B7
uniprot id: Q6FGX9
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the adenylate kinase family. AK1 subfamily.
messages: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP (PubMed:2542324). Exhibits nucleoside diphosphate kinase activity, catalyzing the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and dTTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor (PubMed:23416111). Also catalyzes at a very low rate the synthesis of thiamine triphosphate (ThTP) from thiamine diphosphate (ThDP) and ADP (By similarity).
messages: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.
messages: Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
messages: Cytoplasm
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Monomer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This enzyme represents the most common of at least five alleles.

9606:PIERCE1
gene id: 9606:PIERCE1
uniprot id: Q5BN46
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the PIERCE1 family.
messages: Interacts with CFAP53, ODAD1 and ODAD3; the interactions link the outer dynein arms docking complex (ODA-DC) to the internal microtubule inner proteins (MIP) in cilium axoneme.
messages: May be up-regulated during progression from G1 to S phase of the cell cycle. Maximal expression in S or G2 phase.
messages: Microtubule inner protein involved in the attachment of outer dynein arms (ODAs) to dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Functions at the initial step of left-right asymmetry specification of the visceral organs.
messages: cilium axoneme

9606:KLRC4
gene id: 9606:KLRC4
uniprot id: O43908
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Can form disulfide-bonded heterodimer with CD94.
messages: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
messages: Membrane
messages: Natural killer cells.

9606:ATE1
gene id: 9606:ATE1
uniprot id: A0A8I5KTH0
uniprot id: A0A8I5KZ24
uniprot id: B4DK25
uniprot id: B4E107
uniprot id: F5GXE4
uniprot id: F8WAC9
uniprot id: O95260
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the R-transferase family.
messages: Cytoplasm
messages: Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway.
messages: Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity).
messages: It is uncertain whether Met-1 or Met-37 is the initiator.
messages: Monomer. Interacts with LIAT1 (By similarity).
messages: Nucleus

9606:WDR82
gene id: 9606:WDR82
uniprot id: A0A024R333
uniprot id: Q6UXN9
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the WD repeat SWD2 family.
messages: Chromosome
messages: Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30 (PubMed:16253997, PubMed:17355966, PubMed:17998332, PubMed:18838538). Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC (PubMed:20516061). Associated with multiple protein complexes including an RNA polymerase II complex, MLL3/MLL4 complex and a chaperonin-containing TCP1 complex (PubMed:20516061). Interacts with CUL4B (PubMed:17041588). Interacts with RBBP5 and SETD1B (PubMed:17998332, PubMed:18838538). Interacts with SETD1A (via RRM domain) (PubMed:17998332). Interacts with POLR2B (PubMed:17998332). Interacts with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) (PubMed:17998332). Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad (PubMed:17998332). SETD1A enhances its interaction with POLR2A (PubMed:17998332). Interacts with PPP1R10/PNUTS (PubMed:20516061). Interacts with PPP1CA in the presence of PPP1R10/PNUTS (PubMed:20516061). Interacts with ZC3H4; interaction is independent of the SET1 complex and promotes transcription termination of long non-coding RNAs (lncRNAs) (PubMed:33913806).
messages: Nucleus
messages: Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes (PubMed:17998332, PubMed:18838538, PubMed:20516061). Facilitates histone H3 'Lys-4' methylation (H3K4me) via recruitment of the SETD1A or SETD1B to the 'Ser-5' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) (PubMed:17998332, PubMed:18838538). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase (PubMed:20516061). Together with ZC3H4, but independently of the SET1 complex, part of a transcription termination checkpoint that promotes transcription termination of long non-coding RNAs (lncRNAs) (PubMed:33913806, PubMed:33767452). The transcription termination checkpoint is activated by the inefficiently spliced first exon of lncRNAs and promotes transcription termination of lncRNAs and their subsequent degradation by the exosome (PubMed:33767452).
messages: The gene encoding this protein shares one overlapping exon with TMEM113.

9606:EPHX1
gene id: 9606:EPHX1
uniprot id: P07099
uniprot id: R4SBI6
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S33 family.
messages: Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (PubMed:22798687). Metabolizes the abundant endocannabinoid 2-arachidonoylglycerol (2-AG) to free arachidonic acid (AA) and glycerol (PubMed:24958911).
messages: Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water.
messages: Endoplasmic reticulum membrane
messages: Found in liver.
messages: In some populations, the high activity haplotype tyr113/his139 is overrepresented among women suffering from pregnancy-induced hypertension (pre-eclampsia) when compared with healthy controls.
messages: Inhibited by 10-hydroxystearamide and methoxy-arachidonyl fluorophosphate.
messages: Microsome membrane
messages: Variations in EPHX1 gene non-coding regions have been observed in a patient with hypercholanemia. The pathogenicity of these variants has not been confirmed.

9606:PCP2
gene id: 9606:PCP2
uniprot id: Q8IVA1
names: Function
messages: May function as a cell-type specific modulator for G protein-mediated cell signaling.

9606:NLRC3
gene id: 9606:NLRC3
uniprot id: Q7RTR2
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NLRP family.
messages: Cytoplasm
messages: Directly interacts (via CARD) with TMEM173/STING; this interaction reduces TMEM173 trafficking to the perinuclear region in response to interferon stimulatory DNA. Also interacts, but to a lesser extent, with TBK1 (PubMed:24560620). Interacts with TRAF6; this interaction results in decreased TRAF6 'Lys-63'-linked polyubiquitination, but leaves 'Lys-48'-linked chains unchanged, promoting TRAF6 protein degradation (PubMed:22863753). Interacts with PIK3R1/PIK3R2; this interaction disrupts the association between PIK3R1/PIK3R2 and the p110 catalytic subunit PIK3CA/PIK3CB/PIK3CD and reduces PIK3R1/PIK3R2 activation (By similarity). Weakly interacts with PYCARD/ASC. Interacts with CASP1 and CASP5 (PubMed:25277106).
messages: In primary T-cells, down-regulated upon T-cell receptor activation (PubMed:15705585). Down-regulated in peritoneal macrophages soon after the beginning of LPS stimulation. Levels start increasing again after 3 days of LPS treatment (PubMed:22863753).
messages: Negative regulator of the innate immune response (PubMed:15705585, PubMed:22863753, PubMed:25277106). Attenuates signaling pathways activated by Toll-like receptors (TLRs) and the DNA sensor STING/TMEM173 in response to pathogen-associated molecular patterns, such as intracellular poly(dA:dT), but not poly(I:C), or in response to DNA virus infection, including that of Herpes simplex virus 1 (HSV1) (By similarity) (PubMed:22863753). May affect TLR4 signaling by acting at the level of TRAF6 ubiquitination, decreasing the activating 'Lys-63'-linked ubiquitination and leaving unchanged the degradative 'Lys-48'-linked ubiquitination (PubMed:22863753). Inhibits the PI3K-AKT-mTOR pathway possibly by directly interacting with the posphatidylinositol 3-kinase regulatory subunit p85 (PIK3R1/PIK3R2) and disrupting the association between PIK3R1/PIK3R2 and the catalytic subunit p110 (PIK3CA/PIK3CB/PIK3CD) and reducing PIK3R1/PIK3R2 activation. Via its regulation of the PI3K-AKT-mTOR pathway, controls cell proliferation, predominantly in intestinal epithelial cells (By similarity). May also affect NOD1- or NOD2-mediated NF-kappa-B activation (PubMed:25277106). Might also affect the inflammatory response by preventing NLRP3 inflammasome formation, CASP1 cleavage and IL1B maturation (PubMed:25277106).
messages: The leucine-rich repeat domain may reduce the interaction with TMEM173/STING.

9606:CRB3
gene id: 9606:CRB3
uniprot id: Q9BUF7
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Component of a complex composed of CRB3, PALS1 and PATJ (By similarity). Interacts (via C-terminus) with PALS1 (via PDZ domain) (PubMed:12527193, PubMed:12771187). Interacts with PARD6A (PubMed:14718572). Interacts (via intracellular domain) with EPB41L5 (PubMed:17920587).
messages: Involved in the establishment of cell polarity in mammalian epithelial cells (PubMed:12771187, PubMed:14718572). Regulates the morphogenesis of tight junctions (PubMed:12771187, PubMed:14718572). Involved in promoting phosphorylation and cytoplasmic retention of transcriptional coactivators YAP1 and WWTR1/TAZ which leads to suppression of TGFB1-dependent transcription of target genes such as CCN2/CTGF, SERPINE1/PAI1, SNAI1/SNAIL1 and SMAD7 (By similarity).
messages: Preferentially expressed in epithelial tissues (PubMed:14718572). Expressed at high levels in lung, kidney, and colon (PubMed:12527193, PubMed:14718572). Expressed at high levels in retina, colon and mammary glands (PubMed:12527193). Moderately expressed in liver, spleen, pancreas and prostate (PubMed:12527193). Moderately to weakly expressed in the placenta (PubMed:14718572, PubMed:12527193). Weakly expressed in skeletal muscle and small intestine (PubMed:14718572).
messages: The PDZ-binding motif is involved in the interactions with PARD6A and PALS1.
messages: tight junction

9606:IFT22
gene id: 9606:IFT22
uniprot id: Q9H7X7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT88 (By similarity).
messages: Small GTPase-like component of the intraflagellar transport (IFT) complex B.
messages: cilium

9606:FUS
gene id: 9606:FUS
uniprot id: P35637
uniprot id: Q13344
uniprot id: Q6IBQ5
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving FUS is a cause of acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with ERG.
messages: A chromosomal aberration involving FUS is found in a patient with malignant myxoid liposarcoma. Translocation t(12;16)(q13;p11) with DDIT3.
messages: Arg-216 and Arg-218 are dimethylated, probably to asymmetric dimethylarginine.
messages: Belongs to the RRM TET family.
messages: DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Binds also its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity).
messages: Nucleus
messages: Phosphorylated in its N-terminal serine residues upon induced DNA damage. ATM and DNA-PK are able to phosphorylate FUS N-terminal region.
messages: Self-oligomerizes (via N-terminal region) (PubMed:25453086). Oligomerization is essential for chromatin binding (PubMed:25453086). Component of nuclear riboprotein complexes. Interacts with ILF3, TDRD3 and SF1 (PubMed:9660765). Interacts through its C-terminus with SFRS13A (PubMed:9774382). Interacts with OTUB1 and SARNP. Interacts with LRSAM1 (PubMed:27615052). Interacts with SAFB1 in a DNA-dependent manner; this interaction tethers FUS to chromatin (PubMed:27731383). Interacts with MATR3 (PubMed:27731383). Interacts with SNRNP70 and POLR2A; these interactions couple RNA transcription and splicing (PubMed:26124092). Interacts (through its RNA-binding domain) with RALY (through its RNA-binding domain); both are components of the same RNPs (PubMed:30354839).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving FUS is found in a patient with angiomatoid fibrous histiocytoma. Translocation t(12;16)(q13;p11.2) with ATF1 generates a chimeric FUS/ATF1 protein.
messages: Ubiquitous.

9606:TCF4
gene id: 9606:TCF4
uniprot id: P15884
names: Disease Annotation
names: Domain
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Defects in TCF4 may cause autosomal dominant symmetrical acral keratoderma (SAK)syndrome. Symmetrical acral keratodermadefines is characterized by brown/black hyperkeratotic patches symmetrically distributed on the acral regions, especially the wrists, ankles, dorsa of hands, fingers and feet affects young and middle aged men. Patients have epidermis thickened by acanthosis and compact stratum corneum(PubMed:28921696).
messages: Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin. Interacts with HIVEP2. Interacts with NEUROD2 (By similarity). Interacts with AGBL1. Interacts with BHLHA9.
messages: Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.
messages: Incomplete and probable erroneous sequence.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. Causative mutations are heterozygous TCF4 intronic trinucleotide repeat expansions (CTG)n.
messages: Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.
messages: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

9606:GPR85
gene id: 9606:GPR85
uniprot id: P60893
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Endoplasmic reticulum
messages: Highly expressed in brain and testis. Lower levels in small intestine, placenta and spleen. In brain regions, detected in all regions tested, but somewhat lower levels in the corpus callosum, medulla and spinal cord.
messages: Interacts with DLG4 and DLG3.
messages: Orphan receptor.

9606:PEX1
gene id: 9606:PEX1
uniprot id: A0A0C4DG33
uniprot id: B4DER6
uniprot id: O43933
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the AAA ATPase family.
messages: Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:11439091, PubMed:16314507, PubMed:16854980, PubMed:21362118, PubMed:29884772). Specifically recognizes PEX5 monoubiquitinated at 'Cys-11', and pulls it out of the peroxisome lumen through the PEX2-PEX10-PEX12 retrotranslocation channel (PubMed:29884772). Extraction by the PEX1-PEX6 AAA ATPase complex is accompanied by unfolding of the TPR repeats and release of bound cargo from PEX5 (PubMed:29884772).
messages: Cytoplasm
messages: Homooligomer; homooligomerizes in the cytosol, interaction with PEX6 promotes dissociation of the homooligomer (PubMed:16854980). Interacts with PEX6; forming the PEX1-PEX6 AAA ATPase complex, which is composed of a heterohexamer formed by a trimer of PEX1-PEX6 dimers (PubMed:12717447, PubMed:16854980, PubMed:21362118). Interacts indirectly with PEX26, via its interaction with PEX6 (PubMed:12717447).
messages: Peroxisome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol

9606:C4B
gene id: 9606:C4B
uniprot id: P0C0L4
uniprot id: P0C0L5
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Binds B.burgdorferi OspC, the interaction is inhibited by complement factor C2 (PubMed:28873507). This binding may inhibit the complement cascade and allow the bacteria to survive in the host bloodstream (Probable).
messages: Circulates in blood as a disulfide-linked trimer of alpha, beta and gamma chains. C4b interacts with CR1 (via Sushi 1 and Sushi 2 domains).
messages: Circulates in blood as a disulfide-linked trimer of an alpha, beta and gamma chain.
messages: Complement component C4 is expressed at highest levels in the liver, at moderate levels in the adrenal cortex, adrenal medulla, thyroid gland, and the kidney, and at lowest levels in the heart, ovary, small intestine, thymus, pancreas and spleen. The extra-hepatic sites of expression may be important for the local protection and inflammatory response.
messages: Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. Interindividual copy-number variation (CNV) of complement component C4 and associated polymorphisms result in different susceptibilities to SLE. The risk of SLE susceptibility has been shown to be significantly increased among subjects with only two copies of total C4. A high copy number is a protective factor against SLE.
messages: During cDNA synthesis, the 5' end has been inverted (PubMed:3838531).
messages: N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan.
messages: Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.
messages: Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.
messages: Prior to secretion, the single-chain precursor is enzymatically cleaved to yield non-identical chains alpha, beta and gamma. During activation, the alpha chain is cleaved by C1 into C4a and C4b, and C4b stays linked to the beta and gamma chains. Further degradation of C4b by C1 into the inactive fragments C4c and C4d blocks the generation of C3 convertase. The proteolytic cleavages often are incomplete so that many structural forms can be found in plasma.
messages: Secreted
messages: Synapse
messages: The complement component C4 is the most polymorphic protein of the complement system. It is the product of 2 closely linked and highly homologous genes, C4A and C4B. Once polymorphic variation is discounted, the 2 isotypes differ by only 4 amino acids at positions 1120-1125: PCPVLD for C4A and LSPVIH for C4B. The 2 isotypes bear several antigenic determinants defining Chido/Rodgers blood group system [MIM:614374]. Rodgers determinants are generally associated with C4A allotypes, and Chido with C4B. Variations at these loci involve not only nucleotide polymorphisms, but also gene number and gene size. Some individuals may lack either C4A, or C4B gene. Partial deficiency of C4A or C4B is the most commonly inherited immune deficiency known in humans with a combined frequency over 31% in the normal Caucasian population (PubMed:11367523). C4A6 allotype is deficient in hemolytic activity. Allotype C4A13 is infrequent. Common copy-number variants of C4A and C4B affecting expression of complement component C4 in the brain have been associated with schizophrenia risk (PubMed:26814963).
messages: The complement component C4 is the most polymorphic protein of the complement system. It is the product of 2 closely linked and highly homologous genes, C4A and C4B. Once polymorphic variation is discounted, the 2 isotypes differ by only 4 amino acids at positions 1120-1125: PCPVLD for C4A and LSPVIH for C4B. The 2 isotypes bear several antigenic determinants defining Chido/Rodgers blood group system [MIM:614374]. Rodgers determinants are generally associated with C4A allotypes, and Chido with C4B. Variations at these loci involve not only nucleotide polymorphisms, but also gene number and gene size. The second copy of C4B gene present in some individuals has been called C4B_2 by the HUGO Gene Nomenclature Committee (HGNC). Some individuals may lack either C4A, or C4B gene. Partial deficiency of C4A or C4B is the most commonly inherited immune deficiency known in humans with a combined frequency over 31% in the normal Caucasian population (PubMed:11367523). Common copy-number variants of C4A and C4B affecting expression of complement component C4 in the brain have been associated with schizophrenia risk (PubMed:26814963).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: axon
messages: dendrite

9606:CFH
gene id: 9606:CFH
uniprot id: A0A024R962
uniprot id: A0A0D9SG88
uniprot id: P08603
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts (via sushi 4-6 domains) with P.falciparum surface protein PF92; the interaction recruits CFH onto the merozoite surface preventing complement-mediated cell lysis (PubMed:26700768). The interaction does not affect CFH activity (PubMed:26700768).
messages: (Microbial infection) Interacts (via sushi 4-6 domains) with P.falciparum surface protein PF92; the interaction recruits FHL-1 isoform onto the merozoite surface preventing complement-mediated cell lysis (PubMed:26700768). The interaction does not affect FHL-1 isoform activity (PubMed:26700768).
messages: (Microbial infection) Interacts with Borrelia burgdorferi outer surface protein E/OspE; this interaction recruits complement regulator factor H onto the bacterial surface to evade complement-mediated cell lysis.
messages: (Microbial infection) Interacts with C.albicans GPD2; the interaction is direct and leads to the degradation of C3 which enables the pathogen to evade the host innate immune system.
messages: (Microbial infection) Interacts with Neisseria meningitidis protein fHbp.
messages: (Microbial infection) Interacts with Staphylococcus aureus protein Sbi; this interaction inhibits the complement activation of the alternative pathway.
messages: (Microbial infection) Interacts with Staphylococcus aureus surface protein serine-aspartate repeat protein E/SdrE; this interaction sequesters CFH on the surface of S.aureus for complement evasion.
messages: (Microbial infection) Interacts with Streptococcus pneumoniae protein virulence factor choline-binding protein A/CbpAN; this interaction enables Streptococcus pneumoniae to evade surveillance by human complement system.
messages: (Microbial infection) Interacts with West nile virus non-structural protein 1 (NS1); this interaction leads to the degradation of C3.
messages: According to a report, Asn-217 is not glycosylated (PubMed:17591618). Another study observed glycosylation at this position (PubMed:19139490).
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
messages: Expressed in the retinal pigment epithelium (at protein level) (PubMed:25136834). CFH is one of the most abundant complement components in blood where the liver is the major source of CFH protein in vivo. in addition, CFH is secreted by additional cell types including monocytes, fibroblasts, or endothelial cells (PubMed:6444659, PubMed:2968404, PubMed:2139673, PubMed:25136834).
messages: Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complement activation and amplification on cell surfaces (PubMed:21285368, PubMed:25402769). Accelerates the decay of the complement alternative pathway (AP) C3 convertase C3bBb, thus preventing local formation of more C3b, the central player of the complement amplification loop (PubMed:19503104, PubMed:26700768). As a cofactor of the serine protease factor I, CFH also regulates proteolytic degradation of already-deposited C3b (PubMed:18252712, PubMed:28671664). In addition, mediates several cellular responses through interaction with specific receptors. For example, interacts with CR3/ITGAM receptor and thereby mediates the adhesion of human neutrophils to different pathogens. In turn, these pathogens are phagocytosed and destroyed (PubMed:9558116, PubMed:20008295).
messages: Homodimer (PubMed:18005991, PubMed:19505476). Forms also homooligomers (PubMed:19505476). Interacts with complement protein C3b; this interaction inhibits complement activation (PubMed:16601698, PubMed:19503104, PubMed:20378178, PubMed:21285368, PubMed:28671664). Interacts with complement protein C3d (PubMed:20378178, PubMed:21285368, PubMed:29190743). Interacts with CR3/ITGAM; this interaction mediates adhesion of neutrophils to pathogens leading to pathogen clearance (PubMed:9558116, PubMed:20008295). Interacts with complement factor I (PubMed:28671664).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Secreted
messages: Sulfated on tyrosine residues.
messages: Sushi 1-3 domain represents the minimal unit capable of cofactor activity (PubMed:18252712). The property to discriminate self surfaces from non-self surfaces depends on the C-terminal region made of Sushis 19-20 (PubMed:21285368).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry is involved in disease pathogenesis.

9606:PHF20
gene id: 9606:PHF20
uniprot id: Q9BVI0
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Antibodies against PHF20 are present in sera from patients with hepatocellular carcinoma, glioblastoma and childhood medulloblastula.
messages: Expressed in heart, kidney, liver, lung, pancreas, placenta, spleen and testis. Not expressed in brain, skeletal muscle, colon, ovary, prostate, small intestine and thymus. Expressed in colon and ovary cancer cell lines while it is not expressed in the respective normal tissues.
messages: Homodimer; disulfide-linked. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1.
messages: Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 'Lys-16' acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine-dependent p53/TP53 stabilization and up-regulation after DNA damage.
messages: Nucleus
messages: The Tudor domain 1 doesn't bind dimethyl-lysine residues, due to an atypical and occluded aromatic cage.
messages: The Tudor domain 2 mediates reading of dimethyl-lysine residues.

9606:PPP1R32
gene id: 9606:PPP1R32
uniprot id: Q7Z5V6
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts with PPP1CA.
messages: cilium

9606:OPRK1
gene id: 9606:OPRK1
uniprot id: A0A5F9ZI09
uniprot id: P41145
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Detected in brain and placenta.
messages: G-protein coupled opioid receptor that functions as receptor for endogenous alpha-neoendorphins and dynorphins, but has low affinity for beta-endorphins. Also functions as receptor for various synthetic opioids and for the psychoactive diterpene salvinorin A. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain. Plays a role in mediating reduced physical activity upon treatment with synthetic opioids. Plays a role in the regulation of salivation in response to synthetic opioids. May play a role in arousal and regulation of autonomic and neuroendocrine functions.
messages: Interacts with SLC9A3R1. Interacts with GABARAPL1.
messages: Membrane

9606:MCF2L2
gene id: 9606:MCF2L2
uniprot id: Q86YR7
names: Disease Annotation
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the MCF2 family.
messages: Disease susceptibility may be associated with variants affecting the gene represented in this entry.
messages: Probably functions as a guanine nucleotide exchange factor.
messages: Significantly expressed in brain and modestly in pancreas, brain and testis.

9606:KIAA0586
gene id: 9606:KIAA0586
uniprot id: Q9BVV6
names: Developmental Stage
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TALPID3 family.
messages: Expressed as early as 6 weeks of gestation (Carnegie stage 16). Ubiquitously expressed during fetal development and postnatally in all adult tissues tested.
messages: Interacts with CCP110, CEP290, CEP97, KIF24.
messages: Photoreceptor inner segment
messages: Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. Some patients with biallelic KIAA0586 mutations manifest a disease phenotype with features of Joubert syndrome and additional findings of a small thorax and respiratory problems consistent with Jeune syndrome (Joubert-Jeune ciliopathy).
messages: Ubiquitously expressed (PubMed:26386044). Expressed in photoreceptor cells (at protein level) (PubMed:26386247).
messages: centriole
messages: centrosome
messages: cilium basal body

9606:ADIPOR2
gene id: 9606:ADIPOR2
uniprot id: Q86V24
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ADIPOR family.
messages: Cell membrane
messages: May form homooligomers and heterooligomers with ADIPOR1 (PubMed:12802337). Interacts with APPL2 (via BAR domain); ADIPOQ dissociates this interaction (By similarity).
messages: Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:12802337, PubMed:25855295). Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity).
messages: The N-terminus is cytoplasmic and the C-terminus is extracellular, contrary to what is observed for G-protein coupled receptors. Unlike G-protein coupled receptors, transmembrane helices are not kinked or tilted relative to the plane of the membrane.
messages: Ubiquitous (PubMed:16044242). Highly expressed in skeletal muscle, liver and placenta (PubMed:12802337). Weakly expressed in brain, heart, colon, spleen, kidney, thymus, small intestine, peripheral blood leukocytes and lung (PubMed:12802337).

9606:CEP152
gene id: 9606:CEP152
uniprot id: O94986
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CEP152 family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Interacts (via N-terminus) with PLK4; the interaction is mutally exclusive with a PLK4:CEP192 interaction (PubMed:21059844, PubMed:20852615, PubMed:24997597). Interacts (via C-terminus) with CENPJ (via-N-terminus) (PubMed:20852615). Interacts with CINP (PubMed:21131973). Interacts with CDK5RAP2, WDR62, CEP63 and CEP131 (PubMed:21983783, PubMed:24613305, PubMed:26297806). CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:26297806). Interacts with DEUP1; this interaction recruits CEP152 to the deuterosome. The interactions with CEP63 and DEUP1 are mutually exclusive (By similarity).
messages: Necessary for centrosome duplication; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation (PubMed:21059844, PubMed:20852615). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centriole
messages: centrosome

9606:ASPSCR1
gene id: 9606:ASPSCR1
uniprot id: Q9BZE9
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).
messages: A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein.
messages: Cytoplasm
messages: Endomembrane system
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: Interacts with GLUT4 (By similarity). Interacts with VCPKMT. Interacts with VCP.
messages: Nucleus
messages: Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT.
messages: Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.

9606:PCDHB13
gene id: 9606:PCDHB13
uniprot id: Q9Y5F0
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:IFNGR2
gene id: 9606:IFNGR2
uniprot id: P38484
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:8124716, PubMed:7673114,PubMed:7615558). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:8124716, PubMed:7673114, PubMed:15356148). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114).
messages: Belongs to the type II cytokine receptor family.
messages: Cell membrane
messages: Cytoplasm
messages: Cytoplasmic vesicle membrane
messages: Endoplasmic reticulum membrane
messages: Expressed in T-cells (at protein level).
messages: Golgi apparatus membrane
messages: Heterodimer with IFNGR1, to form the IFNG receptor complex (PubMed:7615558). Interacts (via intracellular domain) with JAK2 (PubMed:7615558, PubMed:7673114).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:GSTM5
gene id: 9606:GSTM5
uniprot id: P46439
uniprot id: Q5T8R2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GST superfamily. Mu family.
messages: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
messages: Cytoplasm
messages: Homodimer.

9606:VPS52
gene id: 9606:VPS52
uniprot id: A0A1U9X8S4
uniprot id: B3KMF7
uniprot id: B4DS44
uniprot id: Q4VXZ2
uniprot id: Q8N1B4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).
messages: Belongs to the VPS52 family.
messages: Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54 (PubMed:27440922, PubMed:15878329, PubMed:20685960). Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin (PubMed:25799061, PubMed:27440922). EIPR1 interacts with both EARP and GARP complexes and mediates the recruitment of the GARP complex to the trans-Golgi network (PubMed:27440922). Interacts with RAB6A and STX10 (PubMed:15878329, PubMed:20685960). Interacts with BLTP3B (PubMed:20163565).
messages: Endosome membrane
messages: Recycling endosome
messages: trans-Golgi network membrane

9606:BHLHE41
gene id: 9606:BHLHE41
uniprot id: Q9C0J9
names: Function
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Genetic variations in BHLHE41 are associated with the familial natural short sleep 1 (FNSS1) phenotype, an autosomal dominant trait [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.
messages: Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.
messages: Homodimer (By similarity). Heterodimer with BHLHE40/DEC1 (PubMed:15193144). Interacts with CIART and BMAL1 (By similarity). Interacts with RXRA (PubMed:19786558). Interacts with NR0B2 and HNF1A (By similarity).
messages: Nucleus
messages: Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:11278948, PubMed:14672706, PubMed:15193144, PubMed:15560782, PubMed:18411297, PubMed:19786558, PubMed:25083013). Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-BMAL1 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes (PubMed:25083013). Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity. Inhibits HNF1A-mediated transactivation of CYP1A2, CYP2E1 AND CYP3A11 (By similarity).

9606:UBE3D
gene id: 9606:UBE3D
uniprot id: Q7Z6J8
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome.
messages: Interacts with UBE2C/UbcH10 (E2 ubiquitin-conjugating enzyme). In vitro, interacts with cyclin-B.
messages: The C-terminal half (AA 188-389) is able to bind cyclin-B and shows a self-ubiquitination activity (mono-, poly, or multi-ubiquitination) in a HECT-like sequence dependent manner.
messages: Ubiquitinated by UBCH10 (E2 ubiquitin-conjugating enzyme).

9606:UBIAD1
gene id: 9606:UBIAD1
uniprot id: Q9Y5Z9
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the UbiA prenyltransferase family.
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Interacts with HMGCR and SOAT1.
messages: Mitochondrion membrane
messages: Nucleus
messages: Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10 (PubMed:20953171, PubMed:23374346). MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development (PubMed:20953171). Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4 (PubMed:20953171). Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays an important antioxidant role in the cardiovascular system (PubMed:23374346). Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress (PubMed:23374346).
messages: Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level) (PubMed:11314041, PubMed:12497587).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed.

9606:GPR139
gene id: 9606:GPR139
uniprot id: Q6DWJ6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed almost exclusively in the brain. Detected at very low levels in the peripheral tissues.
messages: Orphan receptor. Seems to act through a G(q/11)-mediated pathway.

9606:KCNH4
gene id: 9606:KCNH4
uniprot id: Q9UQ05
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.3/KCNH4 sub-subfamily.
messages: Detected only in brain, in particular in the telencephalon. Detected in putamen and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus.
messages: Membrane
messages: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly.
messages: The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits.
messages: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

9606:PAK6-AS1
gene id: 9606:PAK6-AS1
uniprot id: Q8N910
names: Caution
messages: Product of a dubious CDS prediction.

9606:OR2T29
gene id: 9606:OR2T29
uniprot id: Q8NH02
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:LIPI
gene id: 9606:LIPI
uniprot id: H0Y3S0
uniprot id: Q5D1Q2
uniprot id: Q6XZB0
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the AB hydrolase superfamily. Lipase family.
messages: Cell membrane
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Expressed in testis. Expressed exclusively at the connecting piece of the sperm.
messages: Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG).
messages: Inhibited by sodium vanadate.
messages: Interacts with heparin with a high affinity.
messages: Secreted

9606:FLVCR2
gene id: 9606:FLVCR2
uniprot id: Q9UPI3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism.
messages: Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family.
messages: Cell membrane
messages: Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow). Found in acidophil cells of the pituitary that secrete growth hormone and prolactin.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:OR10J1
gene id: 9606:OR10J1
uniprot id: A0A126GWQ9
uniprot id: P30954
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:TLK1
gene id: 9606:TLK1
uniprot id: Q9UKI8
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: Cell-cycle regulated, maximal activity in S-phase. Inactivated by phosphorylation at Ser-743, potentially by CHEK1.
messages: Heterodimer with TLK2.
messages: Nucleus
messages: Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at 'Ser-10'.
messages: Widely expressed. Present in fetal placenta, liver, kidney and pancreas but not heart or skeletal muscle. Also found in adult cell lines. Isoform 3 is ubiquitously expressed in all tissues examined.

9606:SELE
gene id: 9606:SELE
uniprot id: P16581
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A polymorphism in position 149 is associated with a higher risk of coronary artery disease (CAD). A significantly higher mutation frequency (Arg-149) is observed in patients with angiographically proven severe atherosclerosis compared with an unselected population (Ser-149).
messages: Belongs to the selectin/LECAM family.
messages: Cell membrane
messages: Cell-surface glycoprotein having a role in immunoadhesion. Mediates in the adhesion of blood neutrophils in cytokine-activated endothelium through interaction with SELPLG/PSGL1. May have a role in capillary morphogenesis.
messages: Interacts with SELPLG/PSGL1 and PODXL2 through the sialyl Lewis X epitope. SELPLG sulfation appears not to be required for this interaction.

9606:TMEM185A
gene id: 9606:TMEM185A
uniprot id: Q8NFB2
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TMEM185 family.
messages: Interacts with MAP1B.
messages: Membrane
messages: dendrite

9606:FAM167A
gene id: 9606:FAM167A
uniprot id: Q96KS9
names: Similarity
names: Tissue Specificity
messages: Belongs to the FAM167 (SEC) family.
messages: Expressed in skin, including primary keratinocytes, spleen, kidney, leukocytes, testis, lung, small intestine and prostate.

9606:TMEM145
gene id: 9606:TMEM145
uniprot id: Q8NBT3
names: Subcellular Location Annotation
messages: Membrane

9606:EIF5B
gene id: 9606:EIF5B
uniprot id: O60841
names: Cofactor
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Cleaved and inactivated by the protease 3C of poliovirus, Coxsackievirus B3 and Human rhinovirus 14, allowing the virus to shutoff the host cell translation.
messages: Binds 1 monovalent cation per monomer in the active site. Structural cofactor that stabilizes the GTP-bound 'on' state. May also act as a transition state stabilizer of the hydrolysis reaction.
messages: Cytoplasm
messages: Interacts with ANXA5 in a calcium and phospholipid-dependent manner.
messages: Plays a role in translation initiation. Translational GTPase that catalyzes the joining of the 40S and 60S subunits to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon. GTP binding and hydrolysis induces conformational changes in the enzyme that renders it active for productive interactions with the ribosome. The release of the enzyme after formation of the initiation complex is a prerequisite to form elongation-competent ribosomes.

9606:FZD1
gene id: 9606:FZD1
uniprot id: Q9UP38
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for C.difficile toxin TcdB in the colonic epithelium.
messages: (Microbial infection) Interacts with C.difficile toxin TcdB; frizzled receptors constitute the major host receptors for TcdB in the colonic epithelium.
messages: Activation by specific Wnt family members may depend on the cells used for the experiment. Contradictory results have been reported for activation by WNT7B in human and mouse.
messages: Belongs to the G-protein coupled receptor Fz/Smo family.
messages: Cell membrane
messages: Expressed in adult heart, placenta, lung, kidney, pancreas, prostate, and ovary and in fetal lung and kidney.
messages: Interacts with MYOC (PubMed:19188438). Interacts with WNT7B (By similarity).
messages: Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
messages: Receptor for Wnt proteins (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:10557084). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:10557084). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable).
messages: The FZ domain is involved in binding with Wnt ligands.
messages: Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.

9606:LY6G6F
gene id: 9606:LY6G6F
uniprot id: Q5SQ64
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Cell membrane
messages: Homodimer; disulfide-linked. Interacts with GRB2 and GRB7 in a phosphorylation-dependent manner.
messages: May play a role in the downstream signal transduction pathways involving GRB2 and GRB7.
messages: N-glycosylated.

9606:LRRC4C
gene id: 9606:LRRC4C
uniprot id: Q9HCJ2
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Highly expressed in the cerebral cortex, including frontal, parietal and occipital lobes. Putamen, amygdala, hippocampus and medulla oblongata show moderate expression. Caudate nucleus and thalamus express small amounts, whereas other brain regions show very weak or no expression.
messages: Interacts with NTNG1 and WHRN.
messages: May promote neurite outgrowth of developing thalamic neurons.
messages: Postsynaptic cell membrane
messages: The LRR region is both necessary and sufficient for the interaction with NTNG1.

9606:COMMD7
gene id: 9606:COMMD7
uniprot id: Q86VX2
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasmic vesicle
messages: Interacts (via COMM domain) with COMMD1 (via COMM domain). Interacts with RELA. Interacts with CCDC22, CCDC93, SCNN1B, CUL7.
messages: May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Associates with the NF-kappa-B complex and suppresses its transcriptional activity (PubMed:15799966).
messages: Widely expressed with highest expression in lung.

9606:BICC1
gene id: 9606:BICC1
uniprot id: Q9H694
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the BicC family.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Interacts (via KH domains) with ANKS6 (via SAM domain) in an RNA-dependent manner (By similarity). Interacts with ANKS3 (By similarity).
messages: Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.

9606:STX2
gene id: 9606:STX2
uniprot id: P32856
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the syntaxin family.
messages: Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.
messages: Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent.
messages: Membrane

9606:GRIN2C
gene id: 9606:GRIN2C
uniprot id: A0A8D9PH81
uniprot id: H0Y2V8
uniprot id: O15398
uniprot id: Q14957
uniprot id: Q8IW23
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2C/GRIN2C subfamily.
messages: Cell membrane
messages: Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:26875626). Sensitivity to glutamate and channel kinetics depend on the subunit composition (Probable). Plays a role in regulating the balance between excitatory and inhibitory activity of pyramidal neurons in the prefrontal cortex. Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity).
messages: Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:26875626). In vivo, the subunit composition may depend on the expression levels of the different subunits (Probable). Interacts with PDZ domains of PATJ and DLG4 (By similarity). Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes (PubMed:21300787).
messages: Mainly expressed in brain with predominant expression is in the cerebellum, also present in the hippocampus, amygdala, caudate nucleus, corpus callosum, subthalamic nuclei and thalamus. Detected in the heart, skeletal muscle and pancreas.
messages: Membrane
messages: Postsynaptic cell membrane
messages: Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system.
messages: Synaptic cell membrane

9606:EVC2
gene id: 9606:EVC2
uniprot id: Q86UK5
names: Disease Annotation
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE. Interacts with EVC. Interacts (via N-terminal end) with EFCAB7. Interacts (via N-terminal end) with IQCE.
messages: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
messages: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium
messages: cilium basal body
messages: cilium membrane

9606:ICOS
gene id: 9606:ICOS
uniprot id: Q53QY6
uniprot id: Q9Y6W8
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated T-cells. Highly expressed on tonsillar T-cells, which are closely associated with B-cells in the apical light zone of germinal centers, the site of terminal B-cell maturation. Expressed at lower levels in thymus, lung, lymph node and peripheral blood leukocytes. Expressed in the medulla of fetal and newborn thymus.
messages: By phorbol myristate acetate (PMA) and ionomycin. Up-regulated early on T-cells and continues to be expressed into the later phases of T-cell activation.
messages: Cell membrane
messages: Enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines, up-regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Does not up-regulate the production of interleukin-2, but superinduces the synthesis of interleukin-10. Prevents the apoptosis of pre-activated T-cells. Plays a critical role in CD40-mediated class switching of immunoglobin isotypes (By similarity).
messages: Enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines, up-regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Does not up-regulate the production of interleukin-2, but superinduces the synthesis of interleukin-10. Prevents the apoptosis of pre-activated T-cells. Plays a critical role in CD40-mediated class switching of immunoglobin isotypes.
messages: Homodimer; disulfide-linked.
messages: Membrane
messages: N-glycosylated.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SLC35F4
gene id: 9606:SLC35F4
uniprot id: A4IF30
uniprot id: G3V4Z9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SLC35F solute transporter family.
messages: Membrane
messages: Putative solute transporter.

9606:RNF166
gene id: 9606:RNF166
uniprot id: Q96A37
names: Function
names: Subcellular Location Annotation
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that promotes the ubiquitination of different substrates (PubMed:27880896). In turn, participates in different biological processes including interferon production or autophagy (PubMed:26456228, PubMed:27880896). Plays a role in the activation of RNA virus-induced interferon-beta production by promoting the ubiquitination of TRAF3 and TRAF6 (PubMed:26456228). Also plays a role in the early recruitment of autophagy adapters to bacteria (PubMed:27880896). Mediates 'Lys-29' and 'Lys-33'-linked ubiquitination of SQSTM1 leading to xenophagic targeting of bacteria and inhibition of their replication (PubMed:27880896).

9606:ACTR3
gene id: 9606:ACTR3
uniprot id: A0A024RAI1
uniprot id: B4DXW1
uniprot id: P61158
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In podocytes, required for the formation of lamellipodia downstream of AVIL and PLCE1 regulation (PubMed:29058690). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). Plays a role in ciliogenesis (PubMed:20393563).
messages: Belongs to the actin family. ARP3 subfamily.
messages: Cell projection
messages: Component of the Arp2/3 complex composed of ACTR2/ARP2, ACTR3/ARP3, ARPC1B/p41-ARC, ARPC2/p34-ARC, ARPC3/p21-ARC, ARPC4/p20-ARC and ARPC5/p16-ARC (PubMed:9000076, PubMed:9230079, PubMed:11741539). Interacts with WHDC1 (PubMed:18614018). Interacts weakly with MEFV (PubMed:19109554). Interacts with AVIL (PubMed:29058690).
messages: Nucleus
messages: cytoskeleton

9606:RPS16
gene id: 9606:RPS16
uniprot id: M0R210
uniprot id: P62249
names: Similarity
messages: Belongs to the universal ribosomal protein uS9 family.

9606:C5AR1
gene id: 9606:C5AR1
uniprot id: P21730
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Cytoplasmic vesicle
messages: Homodimer. May also form higher-order oligomers (PubMed:12835319). Interacts (when phosphorylated) with ARRB1 and ARRB2; the interaction is associated with internalization of C5aR (PubMed:12464600). Interacts (via N-terminal domain) with S.aureus chemotaxis inhibitory protein (CHIPS); the interaction blocks the receptor and may thus inhibit the immune response (PubMed:15153520, PubMed:15542591, PubMed:21706042).
messages: Phosphorylated on serine residues in response to C5a binding, resulting in internalization of the receptor and short-term desensitization to the ligand. The key residues involved in this process are Ser-334 and Ser-338.
messages: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a (PubMed:1847994, PubMed:8182049, PubMed:7622471, PubMed:9553099, PubMed:10636859, PubMed:15153520, PubMed:29300009). The ligand interacts with at least two sites on the receptor: a high-affinity site on the extracellular N-terminus, and a second site in the transmembrane region which activates downstream signaling events (PubMed:8182049, PubMed:7622471, PubMed:9553099). Receptor activation stimulates chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production (PubMed:10636859, PubMed:15153520).
messages: Sulfation plays a critical role in the association of C5aR with C5a, but no significant role in the ability of the receptor to transduce a signal and mobilize calcium in response to a small a small peptide agonist (PubMed:11342590). Sulfation at Tyr-14 is important for CHIPS binding (PubMed:21706042).

9606:SKIDA1
gene id: 9606:SKIDA1
uniprot id: Q1XH10
names: Polymorphism
names: Similarity
messages: Belongs to the DACH/dachshund family.
messages: The poly-Ala region of SKIDA1 is highly polymorphic and the number of Ala can vary.

9606:SLC25A37
gene id: 9606:SLC25A37
uniprot id: Q9NYZ2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the mitochondrial carrier (TC 2.A.29) family.
messages: Interacts with ACB10; this interaction stabilizes SLC25A37 and enhances the function of SLC25A37 to import mitochondrial iron during erythroid differentiation.
messages: Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis.
messages: Mitochondrion inner membrane

9606:CD46
gene id: 9606:CD46
uniprot id: P15529
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells.
messages: (Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3.
messages: (Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6.
messages: (Microbial infection) Acts as a receptor for cultured Measles virus.
messages: (Microbial infection) Binds to Streptococcus pyogenes M protein and to type IV pili from Neisseria (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).
messages: (Microbial infection) Interacts with human adenovirus B/D fiber protein (PubMed:12915534, PubMed:14566335, PubMed:15047806, PubMed:15078926, PubMed:15919905, PubMed:16254377).
messages: (Microbial infection) Interacts with human herpesvirus 6 GH protein (PubMed:12663806, PubMed:12724329).
messages: (Microbial infection) Interacts with measles virus H protein.
messages: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).
messages: Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype. Patients with CD46 mutations seem to have an overall better prognosis compared to patients carrying CFH mutations.
messages: Expressed by all cells except erythrocytes.
messages: Extensively O-glycosylated in the Ser/Thr-rich domain. O-glycosylation is required for Neisseria binding but not for Measles virus or human adenovirus binding.
messages: In epithelial cells, isoforms B/D/F/H/J/L/3 are phosphorylated by YES1 in response to infection by Neisseria gonorrhoeae; which promotes infectivity. In T-cells, these isoforms may be phosphorylated by LCK.
messages: Interacts with C3b (PubMed:3260937, PubMed:1717583). Interacts with C4b (PubMed:1717583). Interacts with moesin/MSN (PubMed:7884872).
messages: N-glycosylated on Asn-83; Asn-114 and Asn-273 in most tissues, but probably less N-glycosylated in testis. N-glycosylation on Asn-114 and Asn-273 is required for cytoprotective function. N-glycosylation on Asn-114 is required for Measles virus binding. N-glycosylation on Asn-273 is required for Neisseria binding. N-glycosylation is not required for human adenovirus binding.
messages: Sushi domains 1 and 2 are required for interaction with human adenovirus B PIV/FIBER protein and with Measles virus H protein. Sushi domains 2 and 3 are required for Herpesvirus 6 binding. Sushi domain 3 is required for Neisseria binding. Sushi domains 3 and 4 are required for interaction with Streptococcus pyogenes M protein and are the most important for interaction with C3b and C4b.
messages: acrosome inner membrane

9606:MFSD12
gene id: 9606:MFSD12
uniprot id: Q6NUT3
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily.
messages: Genetic variants in MFSD12 cause skin pigmentation variation (PubMed:29025994, PubMed:30664655). Skin pigmentation is among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification (PubMed:29025994, PubMed:30664655). In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator (PubMed:29025994, PubMed:30664655). His-192 is commonly found in East Asians and Native Americans only, and significantly correlates with lower solar radiation intensity in East Asia (PubMed:30664655).
messages: Lysosome membrane
messages: Melanosome membrane
messages: Transporter that mediates the import of cysteine into melanosomes, thereby regulating skin pigmentation (PubMed:33208952). In melanosomes, cysteine import is required both for normal levels of cystine, the oxidized dimer of cysteine, and provide cysteine for the production of the cysteinyldopas used in pheomelanin synthesis, thereby regulating skin pigmentation (PubMed:33208952). Also catalyzes import of cysteine into lysosomes in non-pigmented cells (PubMed:33208952).
messages: Widely expressed, with high expression in primary melanocytes.

9606:DEFB107A
gene id: 9606:DEFB107A
uniprot id: Q8IZN7
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the beta-defensin family.
messages: Has antibacterial activity.
messages: It is uncertain whether Met-1 or Met-5 is the initiator.
messages: Secreted
messages: Specifically expressed in testis.

9606:CSNK1A1L
gene id: 9606:CSNK1A1L
uniprot id: Q8N752
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily.
messages: Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity).
messages: Cytoplasm

9606:PRAMEF12
gene id: 9606:PRAMEF12
uniprot id: O95522
names: Similarity
messages: Belongs to the PRAME family.

9606:IPP
gene id: 9606:IPP
uniprot id: Q9Y573
names: Function
names: Subcellular Location Annotation
messages: May play a role in organizing the actin cytoskeleton.
messages: cytoskeleton

9606:NALF1
gene id: 9606:NALF1
uniprot id: B1AL88
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Auxillary component of the NALCN sodium channel complex, a channel that regulates the resting membrane potential and controls neuronal excitability.
messages: Belongs to the NALF family.
messages: Cell membrane
messages: Component of the NALCN channel complex. NALCN complex consists of NALCN and auxiliary subunits, UNC79, UNC80 and NACL1. These auxiliary subunits are essential for the NALCN channel function.

9606:RNF145
gene id: 9606:RNF145
uniprot id: Q8NDT8
uniprot id: Q96MT1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RING-box family.
messages: E3 ubiquitin ligase that catalyzes the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. In response to bacterial infection, negatively regulates the phagocyte oxidative burst by controlling the turnover of the NADPH oxidase complex subunits. Promotes monoubiquitination of CYBA and 'Lys-48'-linked polyubiquitination and degradation of CYBB NADPH oxidase catalytic subunits, both essential for the generation of antimicrobial reactive oxygen species. Involved in the maintenance of cholesterol homeostasis. In response to high sterol concentrations ubiquitinates HMGCR, a rate-limiting enzyme in cholesterol biosynthesis, and targets it for degradation. The interaction with INSIG1 is required for this function. In addition, triggers ubiquitination of SCAP, likely inhibiting its transport to the Golgi apparatus and the subsequent processing/maturation of SREBPF2, ultimately down-regulating cholesterol biosynthesis.
messages: Endoplasmic reticulum membrane
messages: Interacts (via YLYF motif) with INSIG1 and INSIG2.

9606:FCGR3B
gene id: 9606:FCGR3B
uniprot id: O75015
names: Function
names: Miscellaneous
names: PTM
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Encoded by one of two nearly indentical genes: FCGR3A and FCGR3B (Shown here) which are expressed in a tissue-specific manner. The 'Phe-203' in FCGR3A determines the transmembrane domains whereas the Ser-203 in FCGR3B determines the GPI-anchoring.
messages: Expressed specifically by polymorphonuclear leukocytes (neutrophils). Also expressed by stimulated eosinophils.
messages: Glycosylated. Glycosylation plays an inhibitory role in the interaction with IgG3.
messages: Monomer. Interacts with INPP5D/SHIP1 (By similarity).
messages: Receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils.
messages: Secreted
messages: The soluble form is produced by a proteolytic cleavage.
messages: There are three allelic forms of FCGR3B: FCGR3B*01 (NA-1), FCGR3B*02 (HNA-1b, NA-2) (shown here) and SH. FCGR3B*01 and FCGR3B*02 are detectable with antibodies against the biallelic neutrophil-specific antigen system NA. The more active FCGR3B*01 allele has been associated with severe renal disease in certain systemic vasculitides.

9606:SEPTIN2
gene id: 9606:SEPTIN2
uniprot id: A0A384N6H6
uniprot id: Q15019
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
messages: Cleavage furrow
messages: Coordinated expression with SEPTIN6 and SEPTIN7.
messages: Cytoplasm
messages: Filament-forming cytoskeletal GTPase.
messages: Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE localization at kinetochores and consequently chromosome congression. During anaphase, may be required for chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.
messages: Midbody
messages: Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments and microtubules (PubMed:17637674, PubMed:25588830, Ref.36). GTPase activity is required for filament formation. Filaments are assembled from asymmetrical heterotrimers, composed of SEPTIN2, SEPTIN6 and SEPTIN7 that associate head-to-head to form a hexameric unit (PubMed:16093351, PubMed:16914550). Interaction between SEPTIN2 and SEPTIN7 seems indirect. Interacts with SEPTIN5 (By similarity). Interaction with SEPTIN4 not detected (By similarity). Interacts with SEPTIN9 (PubMed:19145258). Component of a septin core octomeric complex consisting of SEPTIN12, SEPTIN7, SEPTIN6 and SEPTIN2 or SEPTIN4 in the order 12-7-6-2-2-6-7-12 or 12-7-6-4-4-6-7-12 and located in the sperm annulus (PubMed:16093351, PubMed:16914550). Interacts with MAP4. Interacts with DZIP1L (PubMed:28530676).
messages: Septins polymerize into heterooligomeric protein complexes that form filaments.
messages: Widely expressed. Up-regulated in liver cancer.
messages: cell cortex
messages: cilium membrane
messages: cytoskeleton
messages: flagellum
messages: kinetochore
messages: spindle

9606:PCNX4
gene id: 9606:PCNX4
uniprot id: B6ZDM2
uniprot id: Q63HM2
names: Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the pecanex family.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane

9606:ASB1
gene id: 9606:ASB1
uniprot id: B9A047
uniprot id: Q9Y576
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the ankyrin SOCS box (ASB) family.
messages: Interacts with CUL5 and RNF7.
messages: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:16325183). Mediates Notch-induced ubiquitination and degradation of TCF3/E2A and JAK2 (PubMed:21119685). May play a role in testis development (By similarity).
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

9606:MMP7
gene id: 9606:MMP7
uniprot id: P09237
names: Cofactor
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the peptidase M10A family.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Binds 2 calcium ions per subunit.
messages: Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: extracellular matrix

9606:CCKAR
gene id: 9606:CCKAR
uniprot id: P32238
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Receptor for cholecystokinin. Mediates pancreatic growth and enzyme secretion, smooth muscle contraction of the gall bladder and stomach. Has a 1000-fold higher affinity for CCK rather than for gastrin. It modulates feeding and dopamine-induced behavior in the central and peripheral nervous system. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.

9606:PSMB10
gene id: 9606:PSMB10
uniprot id: P40306
names: Developmental Stage
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HIV-1 TAT protein.
messages: Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity.
messages: Belongs to the peptidase T1B family.
messages: Cytoplasm
messages: Highly expressed in immature dendritic cells (at protein level).
messages: Nucleus
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. Component of the immunoproteasome, where it displaces the equivalent housekeeping subunit PSMB7. Component of the spermatoproteasome, a form of the proteasome specifically found in testis.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides.
messages: Up-regulated by IFNG/IFN-gamma (at protein level). Up-regulated by IRF1. Up-regulated by TNF (at protein level). Up-regulated by tetrodotoxin (TTX) in glial cells. Up-regulated in Crohn's bowel disease (CD). Up-regulated by CD40L via the NFKB1 pathway in cancer cells.

9606:OPN5
gene id: 9606:OPN5
uniprot id: Q6U736
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
messages: Cell membrane
messages: Detected in brain and retina and cell lines derived from neural retina.
messages: G-protein coupled receptor which selectively activates G(i) type G proteins via ultraviolet A (UVA) light-mediated activation in the retina (By similarity). Preferentially binds the chromophore 11-cis retinal and is a bistable protein that displays emission peaks at 380 nm (UVA light) and 470 nm (blue light) (PubMed:22043319). Required for the light-response in the inner plexiform layer, and contributes to the regulation of the light-response in the nerve fiber layer, via phosphorylated DAT/SLC6A3 dopamine uptake (By similarity). Involved in local corneal and retinal circadian rhythm photoentrainment via modulation of the UVA light-induced phase-shift of the retina clock (By similarity). Acts as a circadian photoreceptor in the outer ear, via modulation of circadian clock-gene expression in response to violet light during the light-to-dark transition phase and night phase of the circadian cycle (By similarity). Required in the retina to negatively regulate hyaloid vessel regression during postnatal development via light-dependent OPN5-SLC32A1-DRD2-VEGFR2 signaling (By similarity). Involved in the light-dependent regulation of retina and vitreous compartment dopamine levels (By similarity).
messages: It is uncertain whether Cys-315 or Cys-316 is palmitoylated.

9606:ERVV-1
gene id: 9606:ERVV-1
uniprot id: B6SEH8
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the gamma type-C retroviral envelope protein family.
messages: Expressed in placenta.
messages: Membrane

9606:DNAI3
gene id: 9606:DNAI3
uniprot id: Q8IWG1
names: Disease Annotation
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
messages: A rare heterozygous in-frame DNAI3 deletion encompassing exons 14-17 has been found in a fetus with encephalocele. Overexpression of human DNAI3 RNA lacking exons 14-17 in zebrafish embryos also results in similar brain malformations, suggesting that DNAI3 defects might be involved in encephalocele formation.
messages: Acts as a negative regulator of cell migration, invasion, and metastasis downstream of p53/TP53, through inhibition of Arp2/3 complex-mediated actin polymerization (PubMed:32128961). Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function (By similarity). May play a role in osteogenesis of dental tissue-derived mesenchymal stem cells (By similarity).
messages: Cytoplasm
messages: Interacts with ACTR2; this interaction reduces binding of the Arp2/3 complex to the VCA domain of nucleation promoting factors (PubMed:32128961). Part of the multisubunit axonemal dynein complex formed at least of two heavy chains and a number of intermediate and light chains. Found in a associated with the catalytic heavy chain DNAH2, the intermediate chain DNAI4, and the light chain DYNLT1 (By similarity).
messages: Up-regulated at the transcriptional level by TP53.

9606:BCL9L
gene id: 9606:BCL9L
uniprot id: A0A087WZX0
uniprot id: Q86UU0
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the BCL9 family.
messages: Expressed in breast, ductal and invasive ductal carcinomas of the breast, sporadic colorectal adenomas and carcinomas (at protein level). Expressed in fetal brain. Expressed in lung, amygdala, eye, prostate, pancreatic and prostate cancers, head and neck tumors and embryonal tumor.
messages: Found in a complex with CDC73; CTNNB1 and PYGO1. Interacts with CTNNB1.
messages: Nucleus
messages: Tne C-terminal domain is important for its transactivation activity.
messages: Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity).

9606:CTNNBL1
gene id: 9606:CTNNBL1
uniprot id: Q8WYA6
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated somatic hypermutation (SHM) and class-switch recombination (CSR), 2 processes resulting in the production of high-affinity, mutated isotype-switched antibodies (PubMed:32484799).
messages: Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly with CWC15 and CDC5L in the complex (PubMed:32484799). Interacts with AICDA; the interaction is important for the antibody diversification activity of AICDA (PubMed:18722174, PubMed:21385873). Interacts with PRPF31 (via its NLS). Interacts (via its N-terminal NLS) with KPNA1 and KPNA2.
messages: Cytoplasm
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The surface residues of the concave side of the superhelical ARM repeat region contribute to, but are not essential for NLS binding.
messages: Widely expressed with highest levels in skeletal muscle, placenta, heart, spleen, testis and thyroid.

9606:PCDHGC5
gene id: 9606:PCDHGC5
uniprot id: Q9Y5F6
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:MYO1C
gene id: 9606:MYO1C
uniprot id: O00159
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
messages: Binds directly to large unilamellar vesicles (LUVs) containing phosphatidylinositol 4,5-bisphosphate (PIP2) or inositol 1,4,5-trisphosphate (InsP3). The PIP2-binding site corresponds to the myosin tail domain (PH-like) present in its tail domain (By similarity).
messages: Cytoplasm
messages: Cytoplasmic vesicle
messages: Interacts (via its IQ motifs) with CABP1 and CIB1; the interaction with CABP1 and CIB1 is calcium-dependent (By similarity). Interacts (via tail domain) with PLEKHB1 (via PH domain); the interaction is not affected by the presence or absence of calcium and CALM (By similarity). Interacts with POLR1A (By similarity). Interacts with POLR2A (By similarity). Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21 (PubMed:16603771). Interacts (via its IQ motifs) with CALM; this precludes interaction with YWHAB (PubMed:24636949). Interacts with YWHAB; this precludes interaction with CALM (PubMed:24636949). Interacts with RPS6 (PubMed:16877530). Interacts with actin (PubMed:16877530). Interacts with LLPH (By similarity). Interacts with GLUT4 (By similarity). Interacts (via its IQ motifs) with SH3BGRL3; the interaction is dependent on calcium and takes place at membrane ruffles (PubMed:34380438).
messages: Involved in regulation of transcription. Associated with transcriptional active ribosomal genes. Appears to cooperate with the WICH chromatin-remodeling complex to facilitate transcription. Necessary for the formation of the first phosphodiester bond during transcription initiation.
messages: Isoform 2 contains a N-acetylmethionine at position 1.
messages: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell's (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in stereocilia of vestibular hair cells. Binds phosphoinositides and links the actin cytoskeleton to cellular membranes.
messages: Nucleus
messages: Represents an unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1).
messages: cell cortex
messages: nucleolus
messages: nucleoplasm
messages: ruffle membrane
messages: stereocilium membrane

9606:NREP
gene id: 9606:NREP
uniprot id: Q16612
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Down-regulated in emphysematous lung compared to normal lung.
messages: Expressed in lung (at protein level).
messages: In embryos of gestational week (gw) 24, detected mostly in the epithelial cells of saccular surfaces. In gw 39, detected in the cells lining the alveolar surfaces as well as in the mesenchyme (at protein level).
messages: Interacts with the latency-associated peptides (LAP) of TGFB1 and TGFB2; the interaction results in a decrease in TGFB autoinduction (By similarity). Interacts with FLNA.
messages: May have roles in neural function. Ectopic expression augments motility of gliomas. Promotes also axonal regeneration (By similarity). May also have functions in cellular differentiation (By similarity). Induces differentiation of fibroblast into myofibroblast and myofibroblast ameboid migration. Increases retinoic-acid regulation of lipid-droplet biogenesis (By similarity). Down-regulates the expression of TGFB1 and TGFB2 but not of TGFB3 (By similarity). May play a role in the regulation of alveolar generation.
messages: Phosphorylated on Ser-59. Phosphorylation decreases stability and activity.

9606:MCM6
gene id: 9606:MCM6
uniprot id: Q14566
names: Function
names: Miscellaneous
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232, PubMed:16899510, PubMed:9305914). The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (PubMed:32453425).
messages: Belongs to the MCM family.
messages: Chromosome
messages: Component of the MCM2-7 complex (PubMed:16899510, PubMed:17296731, PubMed:9305914). The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (PubMed:16899510, PubMed:17296731, PubMed:9305914, PubMed:32453425, PubMed:34700328, PubMed:34694004). Component of the CMG helicase complex, a hexameric ring of related MCM2-7 subunits stabilized by CDC45 and the tetrameric GINS complex (PubMed:34700328, PubMed:34694004, PubMed:32453425). May interact with MCM10 (PubMed:11095689). Interacts with TIPIN (PubMed:17116885). Interacts with CDT1 (PubMed:20202939). Interacts with MCMBP (PubMed:17296731). Interacts with DDI2 (PubMed:29290612).
messages: Early fractionation of eukaryotic MCM proteins yielded a variety of dimeric, trimeric and tetrameric complexes with unclear biological significance. Specifically a MCM467 subcomplex is shown to have in vitro helicase activity which is inhibited by the MCM2 subunit. The MCM2-7 hexamer is the proposed physiological active complex.
messages: Intronic variations in MCM6 upstream from the LCT gene are associated with adult-type hypolactasia [MIM:223100] leading to lactose intolerance, or with lactase persistance. Lactose intolerance is a normal physiological phenomenon caused by developmental down-regulation of lactase activity during childhood or early adulthood. A non-coding variation in MCM6 affects the transcriptional regulation of the LCT gene resulting in down-regulation of lactase activity. However, the majority of Northern Europeans and some African populations have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence).
messages: Nucleus
messages: O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner.

9606:ZNF410
gene id: 9606:ZNF410
uniprot id: Q86VK4
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Chromosome
messages: During fibroblast senescence.
messages: Interacts with CDKN2A/p14ARF.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus
messages: O-glycosylated (PubMed:30078215). O-GlcNAcylation may occur in response to increasing glucose levels and affect transcription factor activity (PubMed:30078215).
messages: Sumoylated (PubMed:12370286). Sumoylation increases its half-life, possibly by blocking ubiquitin-mediated degradation (PubMed:12370286).
messages: The five zinc finger domains are necessary and sufficient to bind to DNA.
messages: Transcription factor that binds to the sequence motif 5'-CATCCCATAATA-3', and is specifically required to silence expression of fetal hemoglobin in adult erythroid cells (PubMed:33859416, PubMed:33301730). Prevents expression of fetal hemoglobin genes HBG1 and HBG2 through CHD4: acts as a direct transcriptional activator of CHD4, a central component of the NuRD complex that represses transcription of fetal hemoglobin genes HBG1 and HBG2 in erythroid cells (PubMed:33859416, PubMed:33301730). May also activate transcription of matrix-remodeling genes such as MMP1 during fibroblast senescence (PubMed:12370286). May activate transcription of the gap junction gene GJC1, perhaps in response to increasing glucose (PubMed:30078215). However, recent studies suggest that ZNF410 is dedicated to regulate expression of a single gene: CHD4 (PubMed:33859416, PubMed:33301730).
messages: Widely expressed.

9606:PTF1A
gene id: 9606:PTF1A
uniprot id: Q7RTS3
names: Disease Annotation
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: An excellent marker of acinar cell differentiation in the pancreas.
messages: Component of the pancreas transcription factor 1 complex (PTF1) which is composed of TCF3/p75, TCF12/p64 and PTF1A/p48. TCF3 is responsible for the nuclear import of the p48/p64 complex. Interacts with TCF3 and RBPSUH/RBP-Jkappa (By similarity).
messages: Cytoplasm
messages: Nucleus
messages: Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. In some families with pancreatic agenesis, disease causing mutations affect the sequence and activity of an enhancer region of 400-bp located 25 kb downstream of PTF1A (PubMed:24212882).
messages: Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates.

9606:GPATCH1
gene id: 9606:GPATCH1
uniprot id: Q9BRR8
names: Similarity
messages: Belongs to the GPATCH1 family.

9606:FOXO6
gene id: 9606:FOXO6
uniprot id: A0A1X9RU27
names: Subcellular Location Annotation
messages: Nucleus

9606:KIAA0040
gene id: 9606:KIAA0040
uniprot id: Q15053
names: Subcellular Location Annotation
messages: Membrane

9606:C6
gene id: 9606:C6
uniprot id: P13671
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: All cysteine residues are assumed to be cross-linked to one another. Individual modules containing an even number of conserved cysteine residues are supposed to have disulfide linkages only within the same module.
messages: Belongs to the complement C6/C7/C8/C9 family.
messages: Component of the membrane attack complex (MAC). MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and 12-14 copies of the pore-forming subunit C9.
messages: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Secreted
messages: The sequence shown is that of allotype C6 B.

9606:YME1L1
gene id: 9606:YME1L1
uniprot id: Q96TA2
names: Cofactor
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region (PubMed:26923599, PubMed:27786171). Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism (PubMed:18076378, PubMed:26923599, PubMed:27495975). Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins (PubMed:22262461). Required for normal, constitutive degradation of PRELID1 (PubMed:27495975). Catalyzes the degradation of OMA1 in response to membrane depolarization (PubMed:26923599). Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1) (PubMed:22262461).
messages: Binds 1 zinc ion per subunit.
messages: High expression in cardiac and skeletal muscle mitochondria.
messages: Homohexamer; may also form heterohexamers (PubMed:27786171). Exists in several complexes of 600-1100 kDa (PubMed:22262461, PubMed:27495975). Interacts with AFG1L (PubMed:26759378).
messages: In the C-terminal section; belongs to the peptidase M41 family.
messages: In the N-terminal section; belongs to the AAA ATPase family.
messages: Mitochondrion
messages: Mitochondrion inner membrane
messages: Mutagenesis of Glu-543 to Gln does not complement excessive accumulation of subunits (NDUFB6, COX4,ND1) due to YME1 deletion mutant. Probably has no ATPase activity.
messages: Proteolytically processed by mitochondrial processing peptidase (MPP) to generate the mature form.
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:HIGD1B
gene id: 9606:HIGD1B
uniprot id: Q9P298
names: Subcellular Location Annotation
messages: Membrane

9606:NUP58
gene id: 9606:NUP58
uniprot id: A0A8Q3WKK5
uniprot id: A0A8Q3WKL7
uniprot id: Q9BVL2
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NUP58 family.
messages: Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane.
messages: Component of the p62 complex, a complex at least composed of NUP62, NUP54, and NUP58. Interacts with NUTF2. Interacts with SRP1-alpha and Importin p97 proteins when they are together, but not with SRP1-alpha protein alone (By similarity).
messages: Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
messages: In rat, the p62 complex contains two different isoforms of NUP58. Isoform p45 has however not been isolated in human so far.
messages: Nucleus membrane
messages: O-glycosylated.
messages: nuclear pore complex

9606:GPR78
gene id: 9606:GPR78
uniprot id: Q96P69
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: High level of expression in placenta. Expressed throughout the brain at low level. No expression detected in skeletal muscle, lung, heart, liver, pancreas, or kidney.
messages: Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP.

9606:C9orf24
gene id: 9606:C9orf24
uniprot id: Q8NCR6
names: Developmental Stage
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SMRP1 family.
messages: Cytoplasm
messages: Down-regulated by IL13.
messages: Expressed during in vitro differentiation of bronchial epithelial cells. In fetal lung, expression is barely detectable at 10 weeks post-conception but is strong in airway epithelium at 12.3 weeks post-conception.
messages: Expressed in epithelial cells of nasal polyps and in intact epithelium of bronchial biopsies from subjects with and without asthma. Strong expression in columnar cells with little or no expression in basal epithelial cells along the basement membrane. Strongly expressed in ciliated epithelial cells with lower levels in goblet cells (at protein level).
messages: Interacts with alpha-tubulin.
messages: May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells.
messages: Nucleus
messages: cytoskeleton

9606:CRHBP
gene id: 9606:CRHBP
uniprot id: P24387
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CRF-binding protein family.
messages: Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy.
messages: Secreted

9606:TNRC6C
gene id: 9606:TNRC6C
uniprot id: Q9HCJ0
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the GW182 family.
messages: Interacts with one or more of the argonaute family proteins AGO1, AGO2, AGO3 and AGO4. Interacts with PABPC1 and EIF4G1. Interacts with CNOT1; the interaction is direct and mediates the association with the CCR4-NOT complex. Interacts with PAN3; the interaction mediates the association with the PAN complex.
messages: Plays a role in RNA-mediated gene silencing by micro-RNAs (miRNAs). Required for miRNA-dependent translational repression of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes.
messages: The silencing domain, also known as C-terminal effector domain (CED), can act in autonomous repression, including both translational inhibition and mRNA degradation.

9606:YKT6
gene id: 9606:YKT6
uniprot id: A0A7I2V4L6
uniprot id: A4D2J0
uniprot id: O15498
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the synaptobrevin family.
messages: Cytoplasmic vesicle membrane
messages: Farnesylation is required for Golgi targeting.
messages: Golgi apparatus membrane
messages: Identified in 2 different SNARE complexes; the first one composed of GOSR1, GOSR2 and STX5 and the second one composed of BET1L, GOSR1 and STX5.
messages: Membrane
messages: Palmitoylated; catalyzes its own palmitoylation. Palmitoylation is required for Golgi targeting.
messages: The longin domain regulates palmitoylation and membrane targeting.
messages: Vesicular soluble NSF attachment protein receptor (v-SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity.
messages: cytosol

9606:SH2D4A
gene id: 9606:SH2D4A
uniprot id: Q9H788
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function.
messages: Interacts with ESR1.
messages: Ubiquitously expressed. Aberrantly expressed in some cancers.

9606:OR5M8
gene id: 9606:OR5M8
uniprot id: A0A126GWD6
uniprot id: Q8NGP6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:CCPG1
gene id: 9606:CCPG1
uniprot id: Q9ULG6
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42 (By similarity). May be involved in cell cycle regulation.
messages: Belongs to the CCPG1 family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasmic granule membrane
messages: Interacts with MCF2L. May interact with MCF2, ARHGEF1, BCR, VAV1 and FGD1, but not with TIAM1. Interacts with GTP-bound CDC42 and SRC (By similarity).

9606:METTL6
gene id: 9606:METTL6
uniprot id: B4DDX3
uniprot id: Q8TCB7
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the methyltransferase superfamily. METL family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Monomer (PubMed:34862464). Interacts with SARS1/SerRS; interaction is mediated via tRNA(Ser) and is required for N(3)-methylcytidine methylation (PubMed:28655767, PubMed:34268557).
messages: Nucleus
messages: S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Ser), including tRNA(Ser)(UGA) and tRNA(Ser)(GCU) (PubMed:32923617, PubMed:34922197, PubMed:34268557, PubMed:34862464). Interaction with SARS1/SerRS is required for N(3)-methylcytidine methylation (PubMed:34268557).

9606:SPAAR
gene id: 9606:SPAAR
uniprot id: A0A1B0GVQ0
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Highly expressed in lung, heart and skeletal muscle.
messages: Interacts with components of the lysosomal V-ATPase complex (PubMed:28024296). Interacts with ATP6V0A1 (PubMed:28024296). Interacts with ATP6V0A2 (PubMed:28024296).
messages: Late endosome membrane
messages: Lysosome membrane
messages: Negative regulator of amino acid sensing and mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels and amino acids (PubMed:28024296). Negatively regulates mTORC1 activation by inhibiting recruitment of mTORC1 to lysosomes upon stimulation with amino acids: acts by promoting the formation of a tightly bound supercomplex composed of the lysosomal V-ATPase, Ragulator and Rag GTPases, preventing recruitment of mTORC1 (PubMed:28024296). Acts as a regulator of muscle regeneration following injury by regulating mTORC1 activation (By similarity).

9606:GML
gene id: 9606:GML
uniprot id: Q99445
names: Function
names: Induction
names: Subcellular Location Annotation
messages: By p53/TP53.
messages: Cell membrane
messages: May play a role in the apoptotic pathway or cell-cycle regulation induced by p53/TP53 after DNA damage.

9606:OR4K17
gene id: 9606:OR4K17
uniprot id: A0A126GVZ4
uniprot id: Q8NGC6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:POLR2H
gene id: 9606:POLR2H
uniprot id: P52434
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eukaryotic RPB8 RNA polymerase subunit family.
messages: Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively. Directly interacts with POLR2A.
messages: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively.
messages: nucleolus

9606:SMCO4
gene id: 9606:SMCO4
uniprot id: A0A024R3A3
uniprot id: Q9NRQ5
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SMCO4 family.
messages: Membrane

9606:ERH
gene id: 9606:ERH
uniprot id: A0A024R6D4
uniprot id: P84090
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the E(R) family.
messages: Expressed in all tissues examined.
messages: Homodimer (By similarity). Interacts with POLDIP3. Component of the methylosome, a 20S complex containing at least CLNS1A/pICln, PRMT5/SKB1, WDR77/MEP50, PRMT1 and ERH (PubMed:25284789). Interacts with CHTOP (PubMed:25284789).
messages: May have a role in the cell cycle.
messages: Nucleus

9606:HNRNPD
gene id: 9606:HNRNPD
uniprot id: A0A024RDB4
uniprot id: A0A024RDF4
uniprot id: A1LU37
uniprot id: Q14103
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Arg-345 is dimethylated, probably to asymmetric dimethylarginine.
messages: Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Also binds to double- and single-stranded DNA sequences in a specific manner and functions a transcription factor. Each of the RNA-binding domains specifically can bind solely to a single-stranded non-monotonous 5'-UUAG-3' sequence and also weaker to the single-stranded 5'-TTAGGG-3' telomeric DNA repeat. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-stranded DNA 5'-TTAGGG-3' repeats. Binding of RRM1 to DNA inhibits the formation of DNA quadruplex structure which may play a role in telomere elongation. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. May play a role in the regulation of the rhythmic expression of circadian clock core genes. Directly binds to the 3'UTR of CRY1 mRNA and induces CRY1 rhythmic translation. May also be involved in the regulation of PER2 translation.
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Cytoplasm
messages: Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Part of a complex associated with the FOS mCRD domain and consisting of PABPC1, PAIP1, CSDE1/UNR and SYNCRIP. Interacts with IGF2BP2. Interacts with GTPBP1. Interacts with EIF4G1; the interaction requires RNA. Interacts with EIF3B and RPS3.
messages: Methylated by PRMT1, in an insulin-dependent manner. The PRMT1-mediated methylation regulates tyrosine phosphorylation (By similarity).
messages: Nucleus
messages: Several sequence conflicts.

9606:KLK3
gene id: 9606:KLK3
uniprot id: P07288
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peptidase S1 family. Kallikrein subfamily.
messages: Forms a heterodimer with SERPINA5.
messages: Hydrolyzes semenogelin-1 thus leading to the liquefaction of the seminal coagulum.
messages: Inhibited by SERPINA5. Activity is strongly inhibited by Zn2+, 100 times more abundant in semen than in serum. This inhibition is relieved by exposure to semenogelins, which are avid zinc binders.
messages: Secreted

9606:IRX5
gene id: 9606:IRX5
uniprot id: P78411
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TALE/IRO homeobox family.
messages: Down-regulated by 1,25-dihydroxyvitamin D3 in prostate cancer samples from patients assigned to receive weekly high-dose 1,25-dihydroxyvitamin D3 before radical prostatectomy. Also down-regulated by 1,25-dihydroxyvitamin D3 in the human androgen-sensitive prostate cancer cell line LNCaP and in the estrogen-sensitive breast cancer cell line MCF-7.
messages: Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PASD1
gene id: 9606:PASD1
uniprot id: Q8IV76
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: C-termini of isoform 1 and isoform 2 are sufficient to interact with and to repress the activity of CLOCK-BMAL1 (PubMed:25936801).
messages: Due to intron retention.
messages: Functions as a suppressor of the biological clock that drives the daily circadian rhythms of cells throughout the body (PubMed:25936801). Acts as a nuclear repressor of the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock components (PubMed:25936801). Inhibits circadian clock function in cancer cells, when overexpressed (PubMed:25936801).
messages: Interacts with the CLOCK-BMAL1 heterodimer; this interaction inhibits CLOCK-BMAL1 transcriptional activation and suppress circadian timekeeping (PubMed:25936801). Interacts with BMAL1 (PubMed:25936801).
messages: Nucleus
messages: Testis-specific (PubMed:25936801). Expressed in a broad range of cancer cells, including melanoma, lung cancer, and breast cancer (at protein level). Testis-specific (PubMed:15162151). Found in histologically normal tissues from patients with uterus, lung and small intestine cancers. Widespread expression seen in solid tumors and diffuse large B-cell lymphoma (DLBCL)-derived cell lines. Isoform 2 is expressed in all DLBCL-derived cell lines, while isoform 1 is preferentially expressed in cell lines derived from non-germinal center DLBCL (PubMed:15162151).

9606:MMS19
gene id: 9606:MMS19
uniprot id: Q96T76
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the MET18/MMS19 family.
messages: Component of the CIA complex (PubMed:22678362, PubMed:22678361, PubMed:23585563). In the CIA complex, interacts directly with CIAO2B and CIAO3 (PubMed:23585563). Component of the MMXD complex, composed of CIAO1, ERCC2, CIAO2B, MMS19 and SLC25A5 (PubMed:20797633). Interacts with CIAO2B; the interaction is direct (PubMed:20797633). Interacts with ERCC2/XPD; the interaction is direct (PubMed:11071939, PubMed:23585563). Interacts with ERCC3/XPB and NCOA3/RAC3 (PubMed:11071939, PubMed:11279242). Interacts with RTEL1; the interaction mediates the association of RTEL1 with the CIA complex (PubMed:22678361, PubMed:23585563). Interacts with BRIP1 (PubMed:23585563). Interacts with KIF4A; the interaction facilitates the transfer of Fe-S clusters to KIF4A to ensure proper localization of KIF4A to the mitotic machinery components (PubMed:29848660). Interacts with CCDC117; the interaction is indirect (PubMed:30742009).
messages: Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity (PubMed:29848660). In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER), homologous recombination-mediated double-strand break DNA repair, DNA replication and RNA polymerase II (POL II) transcription (PubMed:22678362, PubMed:22678361, PubMed:29225034, PubMed:23585563). As part of the mitotic spindle-associated MMXD complex, plays a role in chromosome segregation, probably by facilitating iron-sulfur (Fe-S) cluster assembly into ERCC2/XPD (PubMed:20797633). Together with CIAO2, facilitates the transfer of Fe-S clusters to the motor protein KIF4A, which ensures proper localization of KIF4A to mitotic machinery components to promote the progression of mitosis (PubMed:29848660). Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery (PubMed:11279242).
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus
messages: Ubiquitinated; undergoes 'Lys-48'-linked polyubiquitination by MAGEF1-NSMCE1 ubiquitin ligase complex leading to proteasomal degradation.
messages: Ubiquitously expressed with higher expression in testis.
messages: centrosome
messages: spindle

9606:STAC3
gene id: 9606:STAC3
uniprot id: A0A024RB38
uniprot id: Q96MF2
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts (via SH3 domains) with the calcium channels CACNA1S and CACNA1C (PubMed:29078335). Component of a calcium channel complex with CACNA1S and CACNB1. Component of a calcium channel complex with CACNA1C and CACNB1 (By similarity).
messages: Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335).
messages: T-tubule
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: sarcolemma

9606:DDX46
gene id: 9606:DDX46
uniprot id: Q7L014
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DEAD box helicase family. DDX46/PRP5 subfamily.
messages: Cajal body
messages: Integral component of the 17S U2 snRNP.
messages: Membrane
messages: Nucleus speckle
messages: Plays an essential role in splicing, either prior to, or during splicing A complex formation.

9606:SPATA7
gene id: 9606:SPATA7
uniprot id: Q9P0W8
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Found in a complex with CFAP410, NEK1 and SPATA7 (PubMed:26167768). Interacts with NEK1 (PubMed:26167768). Interacts with RPGRIP1 (PubMed:25398945). Interacts with RPGR (By similarity). Interacts with NPHP4 (By similarity). Interacts with NPHP1 (By similarity). Interacts with AHI1 (By similarity).
messages: Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium axoneme
messages: cilium basal body
messages: cytoskeleton
messages: photoreceptor outer segment

9606:TMEM258
gene id: 9606:TMEM258
uniprot id: P61165
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the OST5 family.
messages: Component of the oligosaccharyltransferase (OST) complex (PubMed:31831667). OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits (PubMed:26472760, PubMed:27974209, PubMed:31831667). STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Interacts with SYNE1 (via KASH domain), SYNE2 (via KASH domain) and SUN1 (PubMed:28716842).
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Membrane
messages: Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (PubMed:26472760, PubMed:27974209). Involved in ER homeostasis in the colonic epithelium (By similarity).
messages: Ubiquitously expressed.

9606:VCAN
gene id: 9606:VCAN
uniprot id: A0A024RAL1
uniprot id: A0A024RAP3
uniprot id: A0A024RAQ9
uniprot id: P13611
uniprot id: Q59FG9
uniprot id: Q6MZK8
uniprot id: Q86W61
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the aggrecan/versican proteoglycan family.
messages: Expressed in developing photoreceptors and the interphotoreceptor matrix between 12 and 17 weeks post conception (at protein level) (PubMed:29777959). Disappears in aorta after the cartilage development (PubMed:7921538).
messages: Expressed in the retina (at protein level) (PubMed:29777959). Cerebral white matter and plasma (PubMed:2469524). Isoform V0: Expressed in normal brain, gliomas, medulloblastomas, schwannomas, neurofibromas, and meningiomas (PubMed:8627343). Isoform V1: Expressed in normal brain, gliomas, medulloblastomas, schwannomas, neurofibromas, and meningiomas (PubMed:8627343). Isoform V2: Restricted to normal brain and gliomas (PubMed:8627343). Isoform V3: Found in all these tissues except medulloblastomas (PubMed:8627343).
messages: Interacts with FBLN1.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.
messages: Phosphorylated by FAM20C in the extracellular medium.
messages: Proteolytically cleaved by ADAMTS5 and ADAMTS15 in the pericellular matrix surrounding myoblasts, facilitating myoblast contact and fusion which is required for skeletal muscle development and regeneration.
messages: The disease is caused by variants affecting the gene represented in this entry. The pathological mechanism involves a quantitative imbalance of the normally occurring splice variants (PubMed:22739342).
messages: extracellular matrix
messages: interphotoreceptor matrix
messages: photoreceptor outer segment

9606:PLEKHA4
gene id: 9606:PLEKHA4
uniprot id: Q9H4M7
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.
messages: Cytoplasm
messages: Highly expressed in melanoma. Detected at low levels in heart, skeletal muscle, kidney, liver and small intestine.
messages: Membrane

9606:SPATS2L
gene id: 9606:SPATS2L
uniprot id: A0A024R3V0
uniprot id: B8ZZZ7
uniprot id: Q9NUQ6
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SPATS2 family.
messages: Cytoplasm
messages: nucleolus

9606:GRIA4
gene id: 9606:GRIA4
uniprot id: P48058
uniprot id: Q1WWK6
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA4 subfamily.
messages: Cell membrane
messages: Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers. Interacts with EPB41L1 via its C-terminus (By similarity). Found in a complex with GRIA1, GRIA2, GRIA3, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with CACNG5 and PRKCG (By similarity).
messages: Membrane
messages: Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-611 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-837 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity).
messages: Phosphorylated at Ser-862 by PRKCG; phosphorylation increases plasma membrane-associated GRI4 expression.
messages: Postsynaptic cell membrane
messages: Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system.
messages: Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.
messages: The M4 transmembrane segment mediates tetramerization and is required for cell surface expression.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds AMPA (quisqualate) > glutamate > kainate.
messages: dendrite

9606:SERPINA11
gene id: 9606:SERPINA11
uniprot id: Q86U17
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the serpin family.
messages: Secreted

9606:UQCRC2
gene id: 9606:UQCRC2
uniprot id: P22695
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily.
messages: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1 (By similarity). The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695). Interacts with RAB5IF (PubMed:31536960). Interacts with STMP1 (By similarity).
messages: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c (By similarity). The 2 core subunits UQCRC1/QCR1 and UQCRC2/QCR2 are homologous to the 2 mitochondrial-processing peptidase (MPP) subunits beta-MPP and alpha-MPP respectively, and they seem to have preserved their MPP processing properties (By similarity). May be involved in the in situ processing of UQCRFS1 into the mature Rieske protein and its mitochondrial targeting sequence (MTS)/subunit 9 when incorporated into complex III (Probable).
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TAS2R38
gene id: 9606:TAS2R38
uniprot id: P59533
names: Function
names: Miscellaneous
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor T2R family.
messages: Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Expressed in testis (PubMed:16720576).
messages: Membrane
messages: Most taste cells may be activated by a limited number of bitter compounds; individual taste cells can discriminate among bitter stimuli.
messages: Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).
messages: Variations in TAS2R38 are associated with the ability to taste phenylthiocarbamide (PTC tasting) [MIM:171200]; also called thiourea tasting. The ability to taste the substance PTC and a number of related substances is genetically controlled. Genetic studies have demonstrated complex inheritance for this trait. For some people (and some chimpanzees also), the chemical PTC tastes very bitter. For others, it is tasteless. Actually, substantial variation in taste sensitivity exists in human. Five haplotypes arising from three coding SNPs in the TAS2R38 gene are associated with distinct phenotypes of PTC taste sensitivity.

9606:TDRP
gene id: 9606:TDRP
uniprot id: Q86YL5
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TDRP family.
messages: Contributes to normal sperm motility, but not essential for male fertility.
messages: Cytoplasm
messages: Expressed in spermatogenic cells, especially in spermatocytes (at protein level).
messages: Interacts with PRM2.
messages: Nucleus
messages: The poly-Ala region seems to be polymorphic and the number of Ala varies between 4 and 6.

9606:CRYM
gene id: 9606:CRYM
uniprot id: Q14894
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ornithine cyclodeaminase/mu-crystallin family.
messages: Cytoplasm
messages: Expressed in neural tissue, muscle and kidney.
messages: Homodimer.
messages: Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:VPS26C
gene id: 9606:VPS26C
uniprot id: A8MTY9
uniprot id: A8MY26
uniprot id: O14972
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface.
messages: Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079).
messages: Belongs to the VPS26 family.
messages: Component of the heterotrimeric retriever complex formed by VPS26C, VPS29 and VPS35L (PubMed:28892079). Interacts with SNX17; the interaction is direct and associates SNX17 with the retriever complex (PubMed:28892079). Interacts with SNX31; the interaction is direct (PubMed:28892079).
messages: Endosome
messages: Ubiquitously expressed.

9606:LAMTOR5
gene id: 9606:LAMTOR5
uniprot id: O43504
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with hepatitis B virus (HBV) oncoprotein HBX C-terminus.
messages: As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. When complexed to BIRC5, interferes with apoptosome assembly, preventing recruitment of pro-caspase-9 to oligomerized APAF1, thereby selectively suppressing apoptosis initiated via the mitochondrial/cytochrome c pathway. Down-regulates hepatitis B virus (HBV) replication.
messages: Belongs to the LAMTOR5 family.
messages: Highly expressed in skeletal and cardiac muscle, followed by pancreas, kidney, liver, brain, placenta and lung. Elevated levels in both cancerous and non-cancerous liver tissue of patients with chronic HBV infection compared with hepatic tissue without HBV infection.
messages: Homodimer (PubMed:21059355). Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5 (PubMed:32868926, PubMed:22980980). LAMTOR4 and LAMTOR5 form a heterodimer that interacts, through LAMTOR1, with a LAMTOR2, LAMTOR3 heterodimer (PubMed:22980980). The Ragulator complex interacts with both the mTORC1 complex and heterodimers constituted of the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD; regulated by amino acid availability (PubMed:22980980, PubMed:32868926). The Ragulator complex interacts with SLC38A9; the probable amino acid sensor (PubMed:25561175, PubMed:25567906, PubMed:32868926). Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RRAGA/RagA or RRAGB/RagB GDP-bound, RRAGC/RagC or RRAGD/RagD GTP-bound, and Ragulator (PubMed:31704029, PubMed:31672913, PubMed:32868926). Interacts with phosphorylated BIRC5; the resulting complex binds pro-caspase-9, as well as active caspase-9, but much less efficiently (PubMed:12773388). Interacts with SUPV3L1 (PubMed:16176273).
messages: Lysosome
messages: Suppression of caspase activation by the BIRC5/HBXIP complex is increased in the presence of HBX.
messages: cytosol

9606:TFEB
gene id: 9606:TFEB
uniprot id: A0A024RCY3
uniprot id: B0QYS6
uniprot id: P19484
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Cleavage by Coxsackievirus B3 protease 3C after site Gln-60. This non-phosphorylated cleavage product retains its ability to interact with TFEB, TFE3 or MITF and presents impaired transcriptional activity, resulting in disruption of lysosomal functions and increased viral infection.
messages: Alkylated via a non-enzymatic covalent modification (PubMed:35662396). Itaconate, an anti-inflammatory metabolite generated in response to lipopolysaccharide, alkylates Cys-212, preventing association with 14-3-3/YWHA adapters, thereby promoting nuclear translocation and activity (PubMed:35662396).
messages: Belongs to the MiT/TFE family.
messages: Homodimer and heterodimer; with TFE3 or MITF (PubMed:15507434, PubMed:1748288). Interacts (when phosphorylated by MTOR) with YWHAZ; promoting retention in the cytosol (PubMed:35662396).
messages: Lysosome membrane
messages: Nucleus
messages: Phosphorylation at Ser-211 by MTOR regulates its subcellular location and activity (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:24081491, PubMed:30120233, PubMed:35662396). When nutrients are present, phosphorylation by MTOR promotes association with 14-3-3/YWHA adapters and retention in the cytosol (PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:35662396). Inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus (PubMed:22576015, PubMed:22343943, PubMed:22692423). Exported from the nucleus in a mTORC1-dependent manner in response to nutrient availability (PubMed:30120233). Dephosphorylated by phosphatase PPP3CA following Coxsackievirus B3 infection, leading to nuclear translocation (PubMed:33691586).
messages: Sumoylated; does not affect dimerization with MITF.
messages: The leucine zipper region is essential for homo- or heterodimerization and high-affinity DNA binding. DNA binding is mediated by the basic region.
messages: Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:30120233, PubMed:31672913, PubMed:35662396). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF (PubMed:1748288, PubMed:19556463, PubMed:29146937). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFEB phosphorylation by MTOR promotes its cytosolic retention and subsequent inactivation (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:35662396). Upon starvation or lysosomal stress, inhibition of MTOR induces TFEB dephosphorylation, resulting in nuclear localization and transcription factor activity (PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:35662396). Specifically recognizes and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression, thereby playing a central role in expression of lysosomal genes (PubMed:19556463, PubMed:22692423). Regulates lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937). Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy (PubMed:21617040, PubMed:22576015, PubMed:23434374, PubMed:27278822). In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer (PubMed:2115126). Plays a role in the signal transduction pr…
messages: cytosol

9606:ODF3L2
gene id: 9606:ODF3L2
uniprot id: Q3SX64
names: Similarity
messages: Belongs to the ODF3 family.

9606:PRKD1
gene id: 9606:PRKD1
uniprot id: F8WBA3
uniprot id: Q15139
names: Activity Regulation
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Activated by DAG and phorbol esters.
messages: Activated by DAG and phorbol esters. Phorbol-ester/DAG-type domain 1 binds DAG with high affinity and appears to play the dominant role in mediating translocation to the cell membrane and trans-Golgi network. Phorbol-ester/DAG-type domain 2 binds phorbol ester with higher affinity. Autophosphorylation of Ser-742 and phosphorylation of Ser-738 by PKC relieves auto-inhibition by the PH domain. Phosphorylation on Tyr-463 by the SRC-ABL1 pathway in response to oxidative stress, is also required for activation. Activated by DAPK1 under oxidative stress.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Interacts (via N-terminus) with ADAP1/CENTA1 (PubMed:12893243). Interacts with MAPK13 (PubMed:19135240). Interacts with DAPK1 in an oxidative stress-regulated manner (PubMed:17703233). Interacts with USP28; the interaction induces phosphorylation of USP28 and activated KRAS-mediated stabilization of ZNF304 (PubMed:24623306). Interacts with AKAP13 (via C-terminal domain) (By similarity).
messages: Membrane
messages: Phosphorylated at Ser-397 and Ser-401 by MAPK13 during regulation of insulin secretion in pancreatic beta cells (PubMed:19135240). Phosphorylated by DAPK1 (PubMed:17703233). Phosphorylated at Tyr-95 and by ABL at Tyr-463, which primes the kinase in response to oxidative stress, and promotes a second step activating phosphorylation at Ser-738/Ser-742 by PKRD (PubMed:12637538, PubMed:15024053, PubMed:17804414). Phosphorylated on Ser-910 upon S.enterica infection in macrophages (By similarity).
messages: Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and trafficking, cell survival through NF-kappa-B activation, cell migration, cell differentiation by mediating HDAC7 nuclear export, cell proliferation via MAPK1/3 (ERK1/2) signaling, and plays a role in cardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-induced apoptosis and flagellin-stimulated inflammatory response. Phosphorylates the epidermal growth factor receptor (EGFR) on dual threonine residues, which leads to the suppression of epidermal growth factor (EGF)-induced MAPK8/JNK1 activation and subsequent JUN phosphorylation. Phosphorylates RIN1, inducing RIN1 binding to 14-3-3 proteins YWHAB, YWHAE and YWHAZ and increased competition with RAF1 for binding to GTP-bound form of Ras proteins (NRAS, HRAS and KRAS). Acts downstream of the heterotrimeric G-protein beta/gamma-subunit complex to maintain the structural integrity of the Golgi membranes, and is required for protein transport along the secretory pathway. In the trans-Golgi network (TGN), regulates the fission of transport vesicles that are on their way to the plasma membrane. May act by activating the lipid kinase phosphatidylinositol 4-kinase beta (PI4KB) at the TGN for the local synthesis of phosphorylated inositol lipids, which induces a sequential production of DAG, phosphatidic acid (PA) and lyso-PA (LPA) that are necessary for membrane fission and generation of specific transport carriers to the cell surface. Under oxidative stress, is phosphorylated at Tyr-463 via SRC-ABL1 and contributes to cell survival by activating IKK complex and subsequent nuclear translocation and activation of NFKB1. Involved in cell migration by regulating integrin alpha-5/beta-3 recycling and promoting its recruitment in newly forming focal adhesion. In osteoblast differentiation, m…
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated by the intestine-specific transcription factor CDX1 in an activated KRAS-dependent manner in colorectal cancer (CRC) cells (PubMed:24623306).
messages: trans-Golgi network

9606:COX7C
gene id: 9606:COX7C
uniprot id: P15954
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cytochrome c oxidase VIIc family.
messages: Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695). Interacts with RAB5IF (PubMed:31536960).
messages: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
messages: Mitochondrion inner membrane

9606:TIA1
gene id: 9606:TIA1
uniprot id: P31483
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Displays enhanced splicing regulatory activity compared with TIA isoform Long.
messages: Expressed in heart, small intestine, kidney, liver, lung, skeletal muscle, testes, pancreas, and ovary (at protein level).
messages: Homooligomer; homooligomerization is induced by Zn(2+) (By similarity). Interacts with FASTK; the interactions leads to its phosphorylation (PubMed:7544399, PubMed:17135269). Interacts (via RRM1 and the C-terminal glutamine-rich (Q) sequence) with SNRPC/U1-C (via N-terminus); thereby facilitating spliceosomal U1 snRNP recruitment to 5' splice sites (PubMed:12486009).
messages: Nucleus
messages: Phosphorylated by FASTK; phosphorylation occurs after FAS ligation in FAS-mediated apoptosis and before DNA fragmentation.
messages: RNA-binding protein involved in the regulation of alternative pre-RNA splicing and mRNA translation by binding to uridine-rich (U-rich) RNA sequences (PubMed:8576255, PubMed:11106748, PubMed:12486009, PubMed:17488725). Binds to U-rich sequences immediately downstream from a 5' splice sites in a uridine-rich small nuclear ribonucleoprotein (U snRNP)-dependent fashion, thereby modulating alternative pre-RNA splicing (PubMed:11106748, PubMed:8576255). Preferably binds to the U-rich IAS1 sequence in a U1 snRNP-dependent manner; this binding is optimal if a 5' splice site is adjacent to IAS1 (By similarity). Activates the use of heterologous 5' splice sites; the activation depends on the intron sequence downstream from the 5' splice site, with a preference for a downstream U-rich sequence (PubMed:11106748). By interacting with SNRPC/U1-C, promotes recruitment and binding of spliceosomal U1 snRNP to 5' splice sites followed by U-rich sequences, thereby facilitating atypical 5' splice site recognition by U1 snRNP (PubMed:11106748, PubMed:12486009, PubMed:17488725). Activates splicing of alternative exons with weak 5' splice sites followed by a U-rich stretch on its own pre-mRNA and on TIAR mRNA (By similarity). Acts as a modulator of alternative splicing for the apoptotic FAS receptor, thereby promoting apoptosis (PubMed:11106748, PubMed:1934064, PubMed:17488725). Binds to the 5' splice site region of FAS intron 5 to promote accumulation of transcripts that include exon 6 at the expense of transcripts in which exon 6 is skipped, thereby leading to the transcription of a membrane-bound apoptotic FAS receptor, which promotes apoptosis (PubMed:11106748, PubMed:1934064, PubMed:17488725). Binds to a conserved AU-rich cis element in COL2A1 intron 2 and modulates alternative splicing of COL2A1 exon 2 (PubMed:17580305). Also binds to the equivalent AT-rich element in COL2A1 genomic DNA, and may thereby be involved in the regulation of transcription (PubMed:17580305). Binds specifi…
messages: Stress granule
messages: The C-terminal glutamine-rich (Q) sequence in combination with the RRM 1 domain is required for the interaction with SNRPC/U1-C and to facilitate recruitment of spliceosomal U1 snRNP to 5' splice sites.
messages: The RNA recognition motif domains RRM 2 and RRM 3 are necessary and sufficient for binding to uridine-rich target pre-mRNA.
messages: The RRM 1 and RRM 2 domains are required for the localization to stress granules (SGs) and for the recruitment of TIAR1 and poly(A) RNA to SGs in response to stress.
messages: The RRM2 domain and the C-terminal residues 287-340 contribute to nuclear localization.
messages: The RRM3 domain mediates nuclear export.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MLNR
gene id: 9606:MLNR
uniprot id: O43193
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed only in thyroid, stomach, and bone marrow.
messages: Receptor for motilin.

9606:LSM10
gene id: 9606:LSM10
uniprot id: Q969L4
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Appears to function in the U7 snRNP complex that is involved in histone 3'-end processing. Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to U7 snRNA. Binds to the downstream cleavage product (DCP) of histone pre-mRNA in a U7 snRNP dependent manner.
messages: Belongs to the snRNP Sm proteins family.
messages: Component of the heptameric ring U7 snRNP complex, or U7 Sm protein core complex, at least composed of LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF, SNRPG and U7 snRNA. Formation of the U7 snRNP is an ATP-dependent process mediated by a specialized SMN complex containing at least the Sm protein core complex and additionally, the U7-specific LSM10 and LSM11 proteins. Interacts with CLNS1A and SMN.
messages: Not methylated. Methylation is not necessary for interaction with SMN.
messages: Nucleus

9606:MTMR12
gene id: 9606:MTMR12
uniprot id: Q9C0I1
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity).
messages: Although it belongs to the non-receptor class myotubularin subfamily, lacks the conserved active site cysteine residue at position 391 in the dsPTPase catalytic loop and does not have phosphatase activity.
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
messages: Cytoplasm
messages: Expressed in skeletal muscles (at protein level) (PubMed:23818870). Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung (PubMed:11504939).
messages: Heterodimer with lipid phosphatase MTM1 (PubMed:12847286, PubMed:23818870). Heterodimer with lipid phosphatase MTMR2 (PubMed:12847286).
messages: Sarcoplasmic reticulum
messages: sarcomere

9606:KASH5
gene id: 9606:KASH5
uniprot id: Q8N6L0
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis and for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for homolog pairing during meiotic prophase in spermatocytes and probably oocytes. Essential for male and female gametogenesis. Recruits cytoplasmic dynein to telomere attachment sites at the nuclear envelope in spermatocytes. In oocytes is involved in meiotic resumption and spindle formation.
messages: Core component the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, differentially expression of LINC complex constituents is giving rise to specific assemblies. At least SUN1/2-containing core LINC complexes are proposed to be hexameric composed of three protomers of each KASH and SUN domain-containing protein. Interacts (via the last 22 AA) with SUN1; this interaction mediates its telomere localization by forming a SUN1:KASH5 LINC complex. Component of a probable SUN2:KASH5 LINC complex. Self-associates. Interacts with DYNC1H1, DCTN1, DYNC1I1/2 and PAFAH1B1; suggesting the association with the dynein-dynactin motor complex.
messages: Nucleus
messages: Nucleus outer membrane
messages: The C-terminal 22 AA is required and sufficient for localization to telomeres at the nuclear envelope.
messages: telomere

9606:DEFA6
gene id: 9606:DEFA6
uniprot id: Q01524
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the alpha-defensin family.
messages: Expressed in Paneth cells of the small intestine (at protein level).
messages: Homodimer (PubMed:17088326, PubMed:27076903). Self-assembles into higher-order oligomers termed nanonets, fibril-like structures that entrap microbes (PubMed:22722251). Self-assembly into nanonets seems to protect against proteolytic digestion in duodenal fluid (PubMed:30808760). Interacts with Y.enterocolitica invasin and S.typhimurium fliC/flagellin; the interaction creates an anchoring site for progressive DEFA6 self-assembly into nanonets (PubMed:22722251).
messages: Host-defense peptide that contributes to intestinal innate immunity and mediates homeostasis at mucosal surfaces by forming higher-order oligomers that capture bacteria and prevent microbial invasion of the epithelium (PubMed:15616305, PubMed:25158166, PubMed:25354318, PubMed:28026958, PubMed:17088326). After binding to bacterial surface proteins, undergoes ordered self-assembly to form fibril-like nanonets that surround and entangle bacteria and thereby prevent bacterial invasion across the epithelial barrier (PubMed:22722251). Entangles and agglutinates Gram-negative bacteria, such as E.coli, S.typhimurium and Y.enterocolitica, and Gram-positive bacteria such as L.monocytogenes, thereby protecting the intestine against invasion by enteric bacterial pathogens (PubMed:27076903, PubMed:25158166, PubMed:22722251). Blocks adhesion of C.albicans to intestinal epithelial cells and thereby suppresses fungal invasion of epithelial cells and biofilm formation (PubMed:28026958). Under reducing conditions and in an acidic environment similar to the intestinal milieu, exhibits inhibitory activity against anaerobic bacteria such as B.adolescentis, L.acidophilus and B.breve, as well as B.longum and S.thermophilus, possibly by leading to alterations in bacterial cell envelope structures (PubMed:25354318). The disulfide-linked oxidized form exhibits negligible antimicrobial activity against Gram-negative and Gram-positive bacteria, as compared to the enteric defensin DEFA5 (PubMed:15616305, PubMed:17088326).
messages: Proteolytically cleaved by trypsin at Arg-68; the propeptide is stored in the tissue of the small intestine and the mature peptide is found in the luminal fluid; cleavage may occur during or after release into the lumen (PubMed:27076903). The N-terminal propeptide region suppresses self-assembly and renders DEFA6 propeptide unable to agglutinate bacteria and protect human epithelial cells from bacterial invasion (PubMed:27076903).
messages: Secreted
messages: Under reducing conditions, naturally present in the gut owing to the low redox potential or enzymatically generated by the thioredoxin system, the disulfide bridges are opened leading to a conformational change of DEF6, thereby changing its antimicrobial spectrum (PubMed:25354318). The reduced form exhibits inhibitory activity against anaerobic bacteria, in contrast to the minimal antimicrobial activity of the disulfide-linked oxidized form (PubMed:15616305, PubMed:25354318, PubMed:17088326). The formation of higher-order nanonets and bacterial entrapment is independent of the redox state (PubMed:30808760).
messages: secretory vesicle

9606:SORT1
gene id: 9606:SORT1
uniprot id: Q99523
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A common polymorphism located in a non-coding region between CELSR2 and PSRC1 alters a CEBP transcription factor binding site and is responsible for changes in hepatic expression of SORT1. Altered SORT1 expression in liver affects low density lipoprotein cholesterol levels in plasma and is associated with susceptibility to myocardial infarction.
messages: Belongs to the VPS10-related sortilin family. SORT1 subfamily.
messages: Cell membrane
messages: During osteoblast differentiation.
messages: Endoplasmic reticulum membrane
messages: Endosome membrane
messages: Expressed in brain and prostate (at protein level). Expressed at high levels in brain, spinal cord, heart, skeletal muscle, thyroid, placenta and testis. Expressed at lower levels in lymphoid organs, kidney, colon and liver.
messages: Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Lysosomal proteins bind specifically to the receptor in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:16787399). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer. Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi.
messages: Genetic variations in SORT1 influence low density lipoprotein cholesterol (LDL-C) variability and contribute to the low density lipoprotein cholesterol level quantitative trait locus 6 (LDLCQ6) [MIM:613589].
messages: Golgi stack membrane
messages: Interacts with LPL and SLC2A4 (By similarity). Interacts with the cytosolic adapter proteins GGA1 and GGA2 (PubMed:20015111, PubMed:16787399). Interacts with numerous ligands including the receptor-associated protein LRPAP1/RAP, GM2A and NTS. Forms a complex with NGFR which binds specifically to the precursor forms of NGFB (proNGFB) and BDNF (proBDNF). Interacts with the Trk receptors NTRK1, NTRK2 and NTRK3; may regulate their anterograde axonal transport and signaling. Interacts with CLN5 (PubMed:22431521). Interacts with PSAP (PubMed:22431521, PubMed:14657016). Interacts with GRN; this interaction mediates endocytosis and lysosome delivery of progranulin; interaction occurs at the neuronal cell surface in a stressed nervous system (PubMed:21092856). Interacts with the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting subcomplex (VPS), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35; which is involved in retrograde trafficking of the receptor from endosomes to the Golgi apparatus (PubMed:18817523). Interacts with SMPD1; the interaction is required for SMPD1 targeting to lysosomes (PubMed:16787399).
messages: Lysosome membrane
messages: Nucleus membrane
messages: Palmitoylated (PubMed:18817523). Undergoes cysteine S-palmitoylation which promotes the partitioning of the receptor into an endosomal membrane subdomain where it can interact with the retromer cargo-selective complex which mediates its retrograde trafficking to the Golgi apparatus (PubMed:18817523).
messages: Phosphorylation at Ser-825 facilitates the interaction with GGA1.
messages: The N-terminal propeptide is cleaved by furin and possibly other homologous proteases.
messages: The N-terminal propeptide may facilitate precursor transport within the Golgi stack. Intrachain binding of the N-terminal propeptide and the extracellular domain may also inhibit premature ligand binding.
messages: The extracellular domain may be shed following protease cleavage in some cell types.

9606:PCDHA4
gene id: 9606:PCDHA4
uniprot id: Q59H34
uniprot id: Q9UN74
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cadherin 1 to cadherin 4 domains mediate homophilic trans-interaction, the interaction with an identical protocadherin expressed by a neighboring cell. This is a head-to-tail interaction, the cadherin 1 domain interacting with the cadherin 4 domain and the cadherin 2 domain interacting the cadherin 3 domain of the other protocadherin. The cadherin 6 domain mediates promiscuous interactions with protocadherins on the same cell membrane. Each cadherin domain binds three calcium ions.
messages: Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.
messages: Cell membrane
messages: Forms homodimers in trans (molecules expressed by two different cells). Forms promiscuous heterodimers in cis (at the plasma membrane of the same cell) with other protocadherins. Interacts with FYN.
messages: Membrane

9606:PHC3
gene id: 9606:PHC3
uniprot id: B4E2T1
uniprot id: E7EX82
uniprot id: Q8NDX5
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
messages: Component of a PRC1-like complex.
messages: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility.
messages: Nucleus
messages: The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.

9606:AADACL4
gene id: 9606:AADACL4
uniprot id: Q5VUY2
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the 'GDXG' lipolytic enzyme family.
messages: Membrane

9606:DDX27
gene id: 9606:DDX27
uniprot id: B7Z6D5
uniprot id: Q96GQ7
names: Caution
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with PeBoW complex, composed of BOP1, PES1 and WDR12 (PubMed:25825154). Interacts directly with BOP1 and PES1 (PubMed:25825154).
messages: Belongs to the DEAD box helicase family.
messages: Belongs to the DEAD box helicase family. DDX27/DRS1 subfamily.
messages: Chromosome
messages: It is uncertain whether Met-1 or Met-32 is the initiator.
messages: Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3' end formation of ribosomal 47S rRNA (PubMed:25825154).
messages: Sequencing errors.
messages: The C-terminal domain regulates nucleolar localization (PubMed:25825154).
messages: nucleolus

9606:CAPSL
gene id: 9606:CAPSL
uniprot id: Q8WWF8
names: Subcellular Location Annotation
messages: Cytoplasm

9606:TUBG1
gene id: 9606:TUBG1
uniprot id: P23258
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the tubulin family.
messages: Interacts with TUBGCP2 and TUBGCP3 (PubMed:9566969, PubMed:9566969). Interacts with B9D2 (By similarity). Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of TUBG1 and CDK5RAP2 (PubMed:17959831). Interacts with PIFO (PubMed:20643351). Interacts with SAS6 and NUP62 at the centrosome (PubMed:24107630). Interacts with EML3 (phosphorylated at 'Thr-881') and HAUS8 (PubMed:30723163).
messages: Phosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation.
messages: centrosome
messages: spindle

9606:TMED3
gene id: 9606:TMED3
uniprot id: A0A140VKD1
uniprot id: B4E277
uniprot id: F5H4M7
uniprot id: Q9Y3Q3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the EMP24/GP25L family.
messages: COPI-coated vesicle membrane
messages: Endoplasmic reticulum membrane
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: Golgi stack membrane
messages: Membrane
messages: Monomer in endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment and cis-Golgi network. Interacts (via C-terminus) with COPG1; the interaction involves dimeric TMED3; however, there are conflicting reports on the interaction. Interacts with GORASP1 and GORASP2 (By similarity).
messages: Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network.
messages: cis-Golgi network membrane

9606:RABGAP1
gene id: 9606:RABGAP1
uniprot id: Q9Y3P9
names: Domain
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Contaminating sequence. Potential poly-A sequence.
messages: Interacts with RAB6A and tubulin gamma.
messages: Intron retention.
messages: May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition.
messages: The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
messages: centrosome
messages: cytosol

9606:EIF2A
gene id: 9606:EIF2A
uniprot id: F8WAE5
uniprot id: Q9BY44
names: Caution
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the WD repeat EIF2A family.
messages: Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl-tRNAi to 40S ribosomal subunits. In contrast to the eIF-2 complex, it binds methionyl-tRNAi to 40S subunits in a codon-dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40S subunits in a GTP-dependent manner.
messages: This gene should not be confused with EIF2S1, frequently called eIF2-alpha in the literature, and with which it shares the alias EIF2A. EIF2S1 is the alpha subunit of the eIF2 translation initiation complex. Although both of these proteins function in binding initiator tRNA to the 40S ribosomal subunit, the EIF2A protein does so in a codon-dependent manner, whereas eIF2 complex requires GTP. Was initially thought to constitute the ortholog of prokaryotic IF-2 (infB) protein.
messages: Widely expressed. Expressed at higher level in pancreas, heart, brain and placenta.

9606:HRG
gene id: 9606:HRG
uniprot id: P04196
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in macrophages and in malignant cells. Expressed by the liver and secreted in plasma (at protein level).
messages: Interacts (via the HRR domain) with TPM1; the interaction appears to contribute to the antiangiogenic properties of the HRR domain. Interacts with THBS2; the interaction blocks the antiangiogenic effect of THBS2 with CD36 (By similarity). Interacts with THBS1 (via the TSP type I repeats); the interaction blocks the antiangiogenic effect of THBS1 with CD3. Interacts with PLG (via its Kringle domains); the interaction tethers PLG to the cell surface and enhances its activation. Interacts with HPSE; the interaction is enhanced at acidic pH, partially inhibits binding of HPSE to cell surface receptors and modulates its enzymatic activity. Interacts (via the HRR domain) with TMP1; the interaction partially mediates the antiangiogenic properties of HRG. Interacts with kappa and lambda light chains of IgG molecules. Interacts with ATP5F1A; the interaction occurs on the surface of T-cells and alters their cell morphology in concert with CONA. Binds IgG molecules containing kappa and lambda light chains and inhibits the formation of insoluble immunoglobulin complexes. Interacts with F12; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding to HRG, inhibits factor XII autoactivation and contact-initiated coagulation.
messages: N-glycosylated.
messages: Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of necrotic cells through enhancing the phagocytosis of necrotic cells in a heparan sulfate-dependent pathway. This process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface. Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF) signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis.
messages: Proteolytic cleavage produces several HRG fragments which are mostly disulfide-linked and, therefore, not released. Cleavage by plasmin is inhibited in the presence of heparin, zinc ions or in an acidic environment. Cleavage reduces binding of HRG to heparan sulfate, but enhances the ability of HRG to bind and tether plasminogen to the cell surface. On platelet activation, releases a 33 kDa antiangiogenic peptide which encompasses the HRR. Also cleaved in the C-terminal by plasmin.
messages: Secreted
messages: The His/Pro-rich (HRR) region contains approximately 12 tandem internal repeats of the 5-residue G[H/P][H/P]PH consensus sequence. HRR binds heparan sulfate and possesses antiangiogenic, antibacterial and antifungal properties through binding Candida cells, and preferentially lysing the ergosterol-containing liposomes at low pH. The tandem repeats also bind divalent metal ions and heme.
messages: The cystatin domains can also bind heparan sulfate. Binding is enhanced in the presence of zinc ions.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:C2CD6
gene id: 9606:C2CD6
uniprot id: Q53TS8
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CatSper complex targeting and trafficking into the quadrilinear nanodomains. Targets the preassembled CatSper complexes to elongating flagella, where it links the channel-carrying vesicles and motor proteins.
messages: Component of the CatSper complex or CatSpermasome composed of the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE, CATSPERZ, C2CD6/CATSPERT, TMEM249, TMEM262 and EFCAB9. HSPA1 may be an additional auxiliary complex member. The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel. The auxiliary CATSPERB, CATSPERG, CATSPERD and CATSPERE subunits form a pavilion-like structure over the pore which stabilizes the complex through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively. SLCO6C1 interacts with CATSPERE and TMEM262/CATSPERH interacts with CATSPERB, further stabilizing the complex. C2CD6/CATSPERT interacts at least with CATSPERD and is required for targeting the CatSper complex in the flagellar membrane.
messages: Expressed in testis (at protein level).
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: flagellum membrane

9606:ZNF518A
gene id: 9606:ZNF518A
uniprot id: Q6AHZ1
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Nucleus
messages: Through its association with the EHMT1-EHMT2/G9A and PRC2/EED-EZH2 histone methyltransferase complexes may function in gene silencing, regulating repressive post-translational methylation of histone tails at promoters of target genes.

9606:ARX
gene id: 9606:ARX
uniprot id: Q96QS3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the paired homeobox family. Bicoid subfamily.
messages: Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. Also called X-linked lissencephaly with abnormal genitalia (XLAG).
messages: Transcription factor (PubMed:22194193, PubMed:31691806). Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes, such as histone demethylase KDM5C (PubMed:22194193, PubMed:31691806). Positively modulates transcription of KDM5C (PubMed:31691806). Activates expression of KDM5C synergistically with histone lysine demethylase PHF8 and perhaps in competition with transcription regulator ZNF711; synergy may be related to enrichment of histone H3K4me3 in regulatory elements (PubMed:31691806). Required for normal brain development (PubMed:11889467, PubMed:12379852, PubMed:14722918). Plays a role in neuronal proliferation, interneuronal migration and differentiation in the embryonic forebrain (By similarity). May also be involved in axonal guidance in the floor plate (By similarity).

9606:POLD3
gene id: 9606:POLD3
uniprot id: A0A024R5M8
uniprot id: Q15054
names: Developmental Stage
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex (PubMed:22801543, PubMed:17317665, PubMed:24449906). As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity. Stabilizes the Pol-delta complex and plays a major role in Pol-delta stimulation by PCNA (PubMed:10219083, PubMed:10852724, PubMed:11595739, PubMed:16510448, PubMed:24035200). Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation. In this context, POLD3, along with PCNA and RFC1-replication factor C complex, is required to recruit POLD1, the catalytic subunit of the polymerase delta complex, to DNA damage sites (PubMed:20227374). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites performed by Pol-delta4, independently of DNA polymerase zeta (REV3L) or eta (POLH). Facilitates abasic site bypass by DNA polymerase delta by…
messages: Component of both the DNA polymerase delta and DNA polymerase zeta complexes (PubMed:22801543, PubMed:17317665, PubMed:24449906). The tetrameric DNA polymerase delta complex (Pol-delta4), which consists of POLD1/p125, POLD2/p50, POLD3/p66/p68 and POLD4/p12, with POLD1 bearing DNA polymerase and 3' to 5' proofreading exonuclease activities (PubMed:11328591, PubMed:11595739, PubMed:17317665, PubMed:22801543). Within this complex, directly interacts with POLD2 (PubMed:11328591, PubMed:16510448, PubMed:18818516). Following stress caused by DNA damaging agents or by replication stress, POLD4 is degraded and Pol-delta4 is converted into a trimeric form of the complex (Pol-delta3), which consists of POLD1, POLD2 and POLD3. Pol-delta3 is the major form occurring at S phase replication sites, as well as DNA damage sites (PubMed:11595739, PubMed:17317665, PubMed:22801543, PubMed:23913683). Directly interacts with PCNA, as do POLD1 and POLD4; this interaction stimulates Pol-delta polymerase activity (PubMed:11328591, PubMed:11595739, PubMed:12403614, PubMed:16510448, PubMed:22148433). POLD3 phosphorylation at Ser-458 impairs PCNA binding (PubMed:22148433). Component of the DNA polymerase zeta complex (POLZ), which consists of REV3L, MAD2L2, POLD2 and POLD3, with REV3L bearing DNA polymerase catalytic activity (PubMed:24449906). The DNA polymerase delta complex interacts with POLDIP2; this interaction is probably mediated through direct binding to POLD2 (PubMed:12522211).
messages: Cytoplasm
messages: Expression is cell cycle-dependent, with highest levels in G2/M phase and lowest in G1.
messages: Nucleus
messages: Phosphorylation at Ser-458 is catalyzed in vitro by PKA. It is thought to decrease the affinity for PCNA and Pol-delta4 processivity (PubMed:22148433). Can also be phosphorylated in vitro by CDK1-cyclin-A complex, as well as CDK2-cyclin-A and CDK2-cyclin-E complexes. PCNA interferes with CDK-cyclin phosphorylation (PubMed:11595739).
messages: The PIP-box mediates the interaction with PCNA.
messages: Ubiquitinated, but not targeted to the proteasome (PubMed:16934752). Sumoylated (PubMed:16934752, PubMed:25218447). Sumoylation with SUMO3 may be predominant (PubMed:16934752).

9606:OR4K15
gene id: 9606:OR4K15
uniprot id: Q8NH41
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:PPIA
gene id: 9606:PPIA
uniprot id: P62937
uniprot id: V9HWF5
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HCV NS5A; the interaction stimulates RNA-binding ability of NS5A and is dependent on the peptidyl-prolyl cis-trans isomerase activity of PPIA/CYPA.
messages: (Microbial infection) Interacts with HIV-1 capsid protein (PubMed:20364129, PubMed:8513493).
messages: (Microbial infection) Interacts with human SARS coronavirus nucleoprotein.
messages: (Microbial infection) Interacts with influenza A virus matrix protein 1.
messages: (Microbial infection) Interacts with measles virus nucleoprotein.
messages: (Microbial infection) May act as a mediator between human SARS coronavirus nucleoprotein and BSG/CD147 in the process of invasion of host cells by the virus (PubMed:15688292).
messages: (Microbial infection) Stimulates RNA-binding ability of HCV NS5A in a peptidyl-prolyl cis-trans isomerase activity-dependent manner.
messages: Acetylation at Lys-125 markedly inhibits catalysis of cis to trans isomerization and stabilizes cis rather than trans forms of the HIV-1 capsid. PPIA acetylation also antagonizes the immunosuppressive effects of cyclosporine by inhibiting the sequential steps of cyclosporine binding and calcineurin inhibition (PubMed:20364129, Ref.12). Acetylation at Lys-125 favors its interaction with TARDBP (PubMed:25678563).
messages: Belongs to the cyclophilin-type PPIase family.
messages: Belongs to the cyclophilin-type PPIase family. PPIase A subfamily.
messages: Binds cyclosporin A (CsA). CsA mediates some of its effects via an inhibitory action on PPIase.
messages: Catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (PubMed:2001362, PubMed:20676357, PubMed:21245143, PubMed:25678563, PubMed:21593166). Exerts a strong chemotactic effect on leukocytes partly through activation of one of its membrane receptors BSG/CD147, initiating a signaling cascade that culminates in MAPK/ERK activation (PubMed:11943775, PubMed:21245143). Activates endothelial cells (ECs) in a pro-inflammatory manner by stimulating activation of NF-kappa-B and ERK, JNK and p38 MAP-kinases and by inducing expression of adhesion molecules including SELE and VCAM1 (PubMed:15130913). Induces apoptosis in ECs by promoting the FOXO1-dependent expression of CCL2 and BCL2L11 which are involved in EC chemotaxis and apoptosis (PubMed:31063815). In response to oxidative stress, initiates proapoptotic and antiapoptotic signaling in ECs via activation of NF-kappa-B and AKT1 and up-regulation of antiapoptotic protein BCL2 (PubMed:23180369). Negatively regulates MAP3K5/ASK1 kinase activity, autophosphorylation and oxidative stress-induced apoptosis mediated by MAP3K5/ASK1 (PubMed:26095851). Necessary for the assembly of TARDBP in heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and regulates TARDBP binding to RNA UG repeats and TARDBP-dependent expression of HDAC6, ATG7 and VCP which are involved in clearance of protein aggregates (PubMed:25678563). Plays an important role in platelet activation and aggregation (By similarity). Regulates calcium mobilization and integrin ITGA2B:ITGB3 bidirectional signaling via increased ROS production as well as by facilitating the interaction between integrin and the cell cytoskeleton (By similarity). Binds heparan sulfate glycosaminoglycans (PubMed:11943775). Inhibits replication of influenza A virus (IAV) (PubMed:19207730). Inhibits ITCH/AIP4-mediated ubiquitination of matrix protein 1 (M1) of IAV by impairing the interaction of ITCH/AIP4 with M1, followed by the suppression of the nuclear expor…
messages: Cytoplasm
messages: Interacts with protein phosphatase PPP3CA/calcineurin A (PubMed:12218175, PubMed:12357034). Interacts with PRPF19 isoform 2 (via N-terminus) (By similarity). Interacts with isoform 2 of BSG/CD147 (PubMed:15688292, PubMed:11353871, PubMed:11943775, PubMed:21245143). Interacts with FOXO1; the interaction promotes FOXO1 dephosphorylation, nuclear accumulation and transcriptional activity (PubMed:31063815). Interacts with integrin ITGA2B:ITGB3; the interaction is ROS and peptidyl-prolyl cis-trans isomerase (PPIase) activity-dependent and is increased in the presence of thrombin (By similarity). Interacts with MAP3K5 (PubMed:26095851). Interacts with TARDBP; the interaction is dependent on the RNA-binding activity of TARDBP and the PPIase activity of PPIA/CYPA and the acetylation of PPIA/CYPA at Lys-125 favors the interaction (PubMed:25678563). Interacts with HNRNPA1, HNRNPA2B1, HNRNPC, RBMX, HNRNPK and HNRNPM (PubMed:25678563).
messages: Nucleus
messages: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
messages: Secreted

9606:ZNF280C
gene id: 9606:ZNF280C
uniprot id: Q8ND82
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
messages: Contaminating sequence. Potential poly-A sequence.
messages: May function as a transcription factor.
messages: Nucleus

9606:ENY2
gene id: 9606:ENY2
uniprot id: A0A024R9D9
uniprot id: Q9NPA8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ENY2 family.
messages: Component of the nuclear pore complex (NPC)-associated TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, DSS1, and either centrin CETN2 or CETN3. TREX-2 contains 2 ENY2 chains. The TREX-2 complex interacts with the nucleoporin NUP153. Component of some SAGA transcription coactivator-HAT complexes, at least composed of ATXN7, ATXN7L3, ENY2, GCN5L2, SUPT3H, TAF10, TRRAP and USP22. Within the SAGA complex, ENY2, ATXN7, ATXN7L3, and USP22 form an additional subcomplex of SAGA called the DUB module (deubiquitination module). Interacts directly with ATXN7L3, GANP and with the RNA polymerase II. Interacts strongly with ATXN7L3 and ATXN7L3B.
messages: Component of the nuclear pore complex (NPC)-associated TREX-2 complex (transcription and export complex 2), composed of at least ENY2, the isoform GANP of the MCM3AP gene, PCID2, SEM1, and either centrin CETN2 or CETN3. TREX-2 contains 2 ENY2 chains. The TREX-2 complex also associates with ALYREF/ALY and with the nucleoporin NUP153 (PubMed:23591820, PubMed:22307388). Component of some SAGA transcription coactivator-HAT complexes, at least composed of ATXN7, ATXN7L3, ENY2, GCN5L2, SUPT3H/SPT3, TAF10, TRRAP and USP22 (PubMed:18206972, PubMed:21746879, PubMed:23591820, PubMed:27601583). Within the SAGA complex, ENY2, ATXN7, ATXN7L3, and USP22 form an additional subcomplex of SAGA called the DUB module (deubiquitination module) (PubMed:18206972, PubMed:21746879, PubMed:27601583). Interacts with RNA polymerase II subunit POLR2A (PubMed:22307388). Interacts with ATXN7L3B (PubMed:27601583).
messages: Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation (PubMed:18206972, PubMed:21746879). As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:23591820).
messages: Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates to a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery.
messages: nucleoplasm

9606:AFG3L2
gene id: 9606:AFG3L2
uniprot id: Q8TA92
uniprot id: Q9Y4W6
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048). Required for paraplegin (SPG7) maturation (PubMed:30252181). After its cleavage by mitochondrial-processing peptidase (MPP), it converts paraplegin into a proteolytically active mature form (By similarity). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP) (PubMed:22354088, PubMed:30252181). Involved in the regulation of OMA1-dependent processing of OPA1 (PubMed:32600459, PubMed:30252181).
messages: Binds 1 zinc ion per subunit.
messages: Homooligomer. Forms heterooligomers with SPG7 and AFG3L1 (PubMed:17101804). Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:14623864, PubMed:26387735, PubMed:30252181). Interacts with AFG3L1 (By similarity). Interacts with MAIP1 (PubMed:27499296, PubMed:27642048). Interacts with DNAJC19 and PHB2 (By similarity).
messages: In the C-terminal section; belongs to the peptidase M41 family.
messages: In the N-terminal section; belongs to the AAA ATPase family.
messages: Mitochondrion
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous. Highly expressed in the cerebellar Purkinje cells.
messages: Upon import into the mitochondrion, the N-terminal transit peptide is cleaved to generate an intermediate form which undergoes autocatalytic proteolytic processing to generate the proteolytically active mature form.

9606:POMP
gene id: 9606:POMP
uniprot id: Q9Y244
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Although this protein has been named voltage-gated K channel beta subunit 4.1 in Ref.1 and Ref.2, there is no evidence that it may play a role in ion transport.
messages: Belongs to the POMP/UMP1 family.
messages: By IFNG/IFN-gamma.
messages: Constituent of preproteasomes, but not of mature 20S proteasomes. Within the preproteasome, may directly interact with PSMB1/beta6, PSMB4/beta7, PSMB5/beta5, PSMB6/beta1 and PSMB9/beta1i. Interaction with PSMB8/beta5i has been observed in PubMed:10973495, but not in PubMed:10926487. Forms tetramers.
messages: Microsome membrane
messages: Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum.
messages: Nucleus
messages: Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol

9606:CDK5RAP1
gene id: 9606:CDK5RAP1
uniprot id: A0A0S2Z5J9
uniprot id: Q53H36
uniprot id: Q96SZ6
names: Caution
names: Cofactor
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Absence of the mitochondrial target sequence which may lead to miss-localization.
messages: Belongs to the methylthiotransferase family. MiaB subfamily.
messages: Binds 2 [4Fe-4S] clusters. One cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine.
messages: CDK5RAP1 was proposed to act on both nuclear and mitochondrial RNA (PubMed:22422838). However, another study shows that ms2i6A is a mitochondrial tRNA specific modification and is absent from nuclear encoded RNA species, implying that there is no methylthiotransferase activity on nuclear RNA (PubMed:28981754).
messages: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:10721722). Expressed in neurons of central nervous tissue (PubMed:10721722, PubMed:11882646).
messages: High expression in placenta and lung.
messages: Interacts with CDK5R1 (p35 form). CDK5RAP1, CDK5RAP2 and CDK5RAP3 show competitive binding to CDK5R1. Forms a complex with CDK5R1 and CDK5.
messages: Mainly expressed in brain, placenta and testis.
messages: May be due to intron retention.
messages: Methylthiotransferase that catalyzes the conversion of N6-(dimethylallyl)adenosine (i(6)A) to 2-methylthio-N6-(dimethylallyl)adenosine (ms(2)i(6)A) at position 37 (adjacent to the 3'-end of the anticodon) of four mitochondrial DNA-encoded tRNAs (Ser(UCN), Phe, Tyr and Trp) (PubMed:22422838, PubMed:25738458, PubMed:28981754). Essential for efficient and highly accurate protein translation by the ribosome (PubMed:22422838, PubMed:25738458, PubMed:28981754). Specifically inhibits CDK5 activation by CDK5R1 (PubMed:11882646). Essential for efficient mitochondrial protein synthesis and respiratory chain; shows pathological consequences in mitochondrial disease (PubMed:25738458).
messages: Mitochondrion

9606:DGCR8
gene id: 9606:DGCR8
uniprot id: Q8WYQ5
names: Cofactor
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds 1 heme group per homodimer.
messages: Both DRBM domains are required for efficient binding to pri-miRNA. The region between residues 276 and 498 has an autoinhibitory function on pri-miRNA processing activity.
messages: Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity).
messages: Monomer; in absence of heme. Homodimer; the association with heme promotes its dimerization (PubMed:17159994). Component of the microprocessor complex, or pri-miRNA processing protein complex, which is composed of DROSHA and DGCR8 (PubMed:15589161, PubMed:15574589, PubMed:15531877, PubMed:16751099, PubMed:19135890, PubMed:26027739, PubMed:26748718). The microprocessor complex is a heterotrimer; each of the two DROSHA RNase III domains binds one DGCR8 (via C-terminal region) (PubMed:26027739, PubMed:26748718). Interacts with ILF3, NCL and DROSHA (PubMed:17765891). Interacts with CPSF3 and ISY1; this interaction is in an RNA dependent manner (By similarity). Interacts with PUS10; interaction promotes pri-miRNAs processing (PubMed:31819270).
messages: Nucleus
messages: Ubiquitously expressed.
messages: nucleolus

9606:ACYP1
gene id: 9606:ACYP1
uniprot id: G3V2U7
uniprot id: P07311
names: Similarity
names: Tissue Specificity
messages: Belongs to the acylphosphatase family.
messages: Organ-common type isozyme is found in many different tissues.

9606:BNIP2
gene id: 9606:BNIP2
uniprot id: Q12982
names: Function
names: Subcellular Location Annotation
messages: Cytoplasm
messages: Implicated in the suppression of cell death. Interacts with the BCL-2 and adenovirus E1B 19 kDa proteins.
messages: perinuclear region

9606:C3AR1
gene id: 9606:C3AR1
uniprot id: A8K2H7
uniprot id: Q16581
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Among the sulfation sites Tyr-174 is essential for binding of C3a anaphylatoxin.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Interacts with VGF-derived peptide TLQP-21 (By similarity).
messages: Interacts with VGF-derived peptide TLQP-21.
messages: Membrane
messages: O-glycosylated.
messages: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.
messages: Widely expressed in several differentiated hematopoietic cell lines, in the lung, spleen, ovary, placenta, small intestine, throughout the brain, heart, and endothelial cells. Mostly expressed in lymphoid tissues.

9606:EPB41L3
gene id: 9606:EPB41L3
uniprot id: Q9Y2J2
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell junction
messages: Cell membrane
messages: Cytoplasm
messages: Expressed at high levels in brain, with lower levels in kidney, intestine, and testis. Detected in lung.
messages: Interacts (via FERM domain) with CADM1 (PubMed:12234973, PubMed:21131357). Interacts (via FERM domain) with PRMT3; the interaction is direct and inhibits the protein-arginine N-methyltransferase activity of PRMT3 (PubMed:15334060). Interacts with PRMT5 (PubMed:15334060, PubMed:15737618). Interacts with PRMT6 (PubMed:15334060).
messages: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5.
messages: cytoskeleton

9606:NRL
gene id: 9606:NRL
uniprot id: P54845
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 (PubMed:17335001). Binds in a sequence-specific manner to the rhodopsin promoter (PubMed:17335001).
messages: Belongs to the bZIP family.
messages: Cytoplasm
messages: Disumoylated at Lys-20. Sumoylation modulates the transcriptional activity of NRL on RHO and NR2E3 promoters, and is required for normal rod differentiation (By similarity).
messages: Expressed in the brain and the retina (PubMed:11477108). Expressed strongly in rod and cone cells (at protein level) (PubMed:11477108).
messages: Interacts with FIZ1; this interaction represses transactivation (By similarity). Interacts (via the leucine-zipper domain) with CRX (PubMed:10887186).
messages: Nucleus
messages: Phosphorylated (PubMed:11477108, PubMed:17335001).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The minimal transactivation domain (MTD) is conserved across the MAF family, it may activate transcription by recruiting TBP and associated factors at the promoters of target genes.

9606:CUL1
gene id: 9606:CUL1
uniprot id: A0A090N7U0
uniprot id: B3KTW0
uniprot id: Q13616
names: Function
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Deneddylated by Epstein-Barr virus BPLF1 leading to a S-phase-like environment that is required for efficient replication of the viral genome (PubMed:20190741).
messages: (Microbial infection) Interacts with Epstein-Barr virus BPLF1.
messages: (Microbial infection) Interacts with Human adenovirus early E1A protein; this interaction inhibits RBX1-CUL1-dependent elongation reaction of ubiquitin chains by the SCF(FBXW7) complex.
messages: (Microbial infection) Interacts with vaccinia virus protein C9L.
messages: Belongs to the cullin family.
messages: Component of multiple SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complexes formed of CUL1, SKP1, RBX1 and a variable F-box domain-containing protein as substrate-specific subunit (PubMed:10230406, PubMed:15145941, PubMed:15531760, PubMed:16714087, PubMed:16797541, PubMed:17098746, PubMed:18203720, PubMed:20596027, PubMed:22405651, PubMed:22113614, PubMed:23263282, PubMed:23431138, PubMed:25503564, PubMed:11961546, PubMed:22748924). Component of the SCF(FBXW11) complex containing FBXW11. Component of the SCF(SKP2) complex containing SKP2, in which it interacts directly with SKP1, SKP2 and RBX1. Component of the SCF(FBXW2) complex containing FBXW2. Component of the SCF(FBXO32) complex containing FBXO32. Component of the probable SCF(FBXO7) complex containing FBXO7. Component of the SCF(FBXO10) complex containing FBXO10. Component of the SCF(FBXO11) complex containing FBXO11. Component of the SCF(FBXO25) complex containing FBXO25. Component of the SCF(FBXO33) complex containing FBXO33. Component of the probable SCF(FBXO4) complex containing FBXO4. Component of the SCF(FBXO44) complex, composed of SKP1, CUL1 and FBXO44. Component of the SCF(BTRC) complex, composed of SKP1, CUL1 and BTRC. This complex binds phosphorylated NFKBIA. Part of a SCF complex consisting of CUL1, RBX1, SKP1 and FBXO2. Component of a SCF(SKP2)-like complex containing CUL1, SKP1, TRIM21 and SKP2. Component of the SCF(FBXO17) complex, composed of SKP1, CUL1 and FBXO17. Component of the SCF(FBXO27) complex, composed of SKP1, CUL1 and FBXO27. Component of the SCF(CCNF) complex consisting of CUL1, RBX1, SKP1 and CCNF (PubMed:20596027). Interacts with CCNF (PubMed:26818844). Component of the SCF(FBXL3) complex composed of CUL1, SKP1, RBX1 and FBXL3. Component of the SCF(FBXL21) complex composed of CUL1, SKP1, RBX1 and FBXL21. Component of the SCF(FBXO9) composed of CUL1, SKP1, RBX1 and FBXO9. Component of the SCF(FBXW7) composed of CUL1, SKP1, RBX1 and FBXW7 (PubMed:22405651). Interacts with CHEK…
messages: Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). In the SCF complex, serves as a rigid scaffold that organizes the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and exchange of the substrate recognition component is mediated by TIP120A/CAND1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5 and probably NFKB2. SCF(BTRC) and/or SCF(FBXW11) direct ubiquitination of CEP68 (PubMed:25704143, PubMed:25503564). SCF(SKP2) directs ubiquitination of phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. SCF(SKP2) directs ubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A, and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination of CCNE1, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1. SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directs ubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directs ubiquitination of YBX1. SCF(FBXO1) directs ubiquitination of BCL6 and DTL but does not seem to direct ubiquitination of TP53. SCF(BTRC) mediates the ubiquitination of NFKBIA at 'Lys-21' and 'Lys-22'; the degradation frees the associated NFKB1-RELA dimer to translocate into the nucleus and…
messages: Expressed in lung fibroblasts.
messages: Neddylated; which enhances the ubiquitination activity of SCF and prevents binding of the inhibitor CAND1. Deneddylated via its interaction with the COP9 signalosome (CSN) complex (PubMed:10597293, PubMed:10713156, PubMed:15537541, PubMed:18805092).

9606:UIMC1
gene id: 9606:UIMC1
uniprot id: A0A024R7R0
uniprot id: Q96RL1
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RAP80 family.
messages: Component of the ARISC complex, at least composed of UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:24075985). Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:17525341, PubMed:17525342, PubMed:19261746, PubMed:19261749). In the BRCA1-A complex, interacts directly with ABRAXAS1 (PubMed:17643121, PubMed:17643122, PubMed:19261749, PubMed:19261748, PubMed:18077395). Interacts with UBE2I (PubMed:17698038). Interacts with NR6A1 (PubMed:12080054). Interacts with ESR1 (PubMed:17311814). Interacts with TSP57 (By similarity). Interacts with TRAIP (PubMed:26781088).
messages: Expressed in testis, ovary, thymus and heart. Expressed in germ cells of the testis.
messages: Nucleus
messages: Phosphorylated upon DNA damage by ATM or ATR.
messages: Sumoylated.
messages: The Abraxas-interacting region (AIR) mediates the interaction with ABRAXAS1.
messages: The tandem UIM domains form a continuous 60 Angstrom-long alpha-helix and mediate binding to 'Lys-63'-linked ubiquitins. UIM1 and UIM2 bind to the proximal and distal ubiquitin moieties and recognize an 'Ile-44'-centered hydrophobic patch. Since UIMs don't interact with the 'Lys-63' isopeptide bond the UIM-linker region between the 2 UIM domains determines the selectivity for 'Lys-63'-linkage, and its length is very important for specificity.
messages: Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds 'Lys-63'-linked ubiquitin (PubMed:19328070, Ref.38). Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1.

9606:KCNAB2
gene id: 9606:KCNAB2
uniprot id: A1PR14
uniprot id: B2R776
uniprot id: Q13303
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the shaker potassium channel beta subunit family.
messages: Cell membrane
messages: Cytoplasm
messages: Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7649300, PubMed:11825900). Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore (PubMed:7649300, PubMed:11825900). Promotes KCNA4 channel closure (PubMed:7649300, PubMed:11825900). Modulates the functional properties of KCNA5 (By similarity). Enhances KCNB2 channel activity (By similarity). Binds NADPH and has NADPH-dependent aldoketoreductase activity (By similarity). Has broad substrate specificity and can catalyze the reduction of methylglyoxal, 9,10-phenanthrenequinone, prostaglandin J2, 4-nitrobenzaldehyde, 4-nitroacetophenone and 4-oxo-trans-2-nonenal (in vitro) (By similarity).
messages: Detected in myelinated nerve fibers in the spinal cord, in the juxtaparanodal region of the nodes of Ranvier, but also in the paranodal region (PubMed:11086297). Detected in hippocampus (at protein level) (PubMed:21357749). Detected in hippocampus (PubMed:7649300).
messages: Homotetramer (By similarity). Interaction with tetrameric potassium channel alpha subunits gives rise to a heterooctamer (By similarity). Identified in potassium channel complexes containing KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1 and KCNAB2 (By similarity). Interacts with KCNA1 (PubMed:11086297). Interacts with KCNA2 (PubMed:11086297). Interacts with KCNA4 and KCND3 (By similarity). Interacts with KCNA5 (By similarity). Interacts with KCNB2 (By similarity). Interacts (in unphosphorylated form) with MAPRE1 (By similarity). Forms a ternary complex with SQSTM1 and PRKCZ (By similarity).
messages: In contrast to KCNAB1, the shorter N-terminal domain of KCNAB2 cannot mediate closure of delayed rectifier potassium channels by physically obstructing the pore.
messages: Membrane
messages: Phosphorylated by PRKCZ; may be regulated by incorporation in a complex composed of PRKCZ and SQSTM1.
messages: axon
messages: cytoskeleton
messages: synaptosome

9606:LDLRAD4
gene id: 9606:LDLRAD4
uniprot id: A0A7I2V2E6
uniprot id: A0A7I2V575
uniprot id: A8K6A9
uniprot id: O15165
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PMEPA1 family.
messages: Early endosome membrane
messages: Endosome membrane
messages: Expressed in lymphocytes.
messages: Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and prevent propagation of the intracellular signal.
messages: Interacts with PMEPA1. Interacts (via the SMAD interaction motif) with SMAD2 and SMAD3.
messages: Membrane
messages: The SMAD interaction motif is required for interaction with SMAD2 and SMAD3 and the negative regulation of TGF-beta signaling.

9606:EIF3C
gene id: 9606:EIF3C
uniprot id: A0A024QYU9
uniprot id: Q99613
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eIF-3 subunit C family.
messages: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3.
messages: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Identified in a HCV IRES-mediated translation complex, at least composed of EIF3C, IGF2BP1, RPS3 and HCV RNA-replicon. Interacts with ALKBH4, IFIT1 and IFIT2. Interacts with BZW2/5MP1 (PubMed:34260931).
messages: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).
messages: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression.
messages: Cytoplasm
messages: Phosphorylated. Phosphorylation is enhanced upon serum stimulation.

9606:RNF213
gene id: 9606:RNF213
uniprot id: Q63HN8
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with M.tuberculosis protein Rv3655c, which impairs caspase-8 activation and suppresses macrophage apoptosis by blocking the extrinsic pathway.
messages: (Microbial infection) Up-regulated in macrophages infected by M.tuberculosis.
messages: A chromosomal aberration involving RNF213 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK.
messages: Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115). Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS (PubMed:34012115). Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains (PubMed:34012115). Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader (PubMed:34012115). Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process (PubMed:30705059). Also regulates lipotoxicity by inhibiting desaturation of fatty acids (PubMed:30846318). Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity; ATPase activity is required for ubiquitination of LPS (PubMed:34012115).
messages: Autoubiquitinated.
messages: Belongs to the AAA ATPase family.
messages: Composed of an N-terminal stalk, a dynein-like core comprised of two catalytically active and four inactive ATPase domains, and a C-terminal E3 module. The ATPase regions do not generate movement but rather act like an intricate molecular 'switch'.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Down-regulated by let-7c miRNA, which binds to the 3'-UTR transcript of RNF213 (PubMed:26070522). Induced by pro-inflammatory cytokines (PubMed:26278786).
messages: Lipid droplet
messages: Major isoform detected in all tissues examined.
messages: Minor isoform with restricted expression.
messages: Monomer (By similarity). Interacts with UBE2L3/UBCH7; UBE2L3/UBCH7 is the most efficient ubiquitin-conjugating enzyme E2 for the ubiquitin ligase activity (By similarity). Interacts with UBE2N/UBC13; promoting 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849).
messages: Probable cloning artifact.
messages: The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity.
messages: The RZ-type (RNF213-ZNFX1) zinc-finger is required for the ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS).
messages: The stoichiometry is unclear: was initially thought to form homohexamers (PubMed:24658080, PubMed:26126547). However, the electron microscopy structure showed that it is monomeric and is composed of six ATPase modules within a single polypeptide chain (By similarity).
messages: Widely expressed (at protein level).
messages: cytosol

9606:TOM1L2
gene id: 9606:TOM1L2
uniprot id: B7Z2U2
uniprot id: B7Z671
uniprot id: F5H3S6
uniprot id: Q6ZVM7
names: Domain
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Acts as a MYO6/Myosin VI adapter protein that targets myosin VI to endocytic structures (PubMed:23023224). May also play a role in recruiting clathrin to endosomes (PubMed:16412388). May regulate growth factor-induced mitogenic signaling (PubMed:16479011).
messages: Belongs to the TOM1 family.
messages: Interacts with clathrin, SRC and TOLLIP (PubMed:16412388, PubMed:16479011). Interacts with MYO6 (PubMed:23023224).
messages: The GAT domain mediates interaction with TOLLIP.
messages: Ubiquitously expressed with higher expression in heart and skeletal muscle.

9606:TRPA1
gene id: 9606:TRPA1
uniprot id: O75762
names: Activity Regulation
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A cytosolic factor (probably pyrophosphate, polytriphosphate, polyP4, polyP25, polyP45, and/or polyP65) is necessary for TRPA1 activation by irritants (PubMed:17567811). Such factor acts by keeping TRPA1 in a agonist-sensitive state (PubMed:17567811). Inhibited by the potent blocker of TRPV channels ruthenium red, A-967079, AP-18, HC-030031, and aryl sulfonamide derivative (S)-N-(4-chlorobenzyl)-1-((4-fluorophenyl)sulfonyl)pyrrolidine-2-carboxamide (ASD) (PubMed:17567811, PubMed:21873995, PubMed:21402443, PubMed:30878828, PubMed:20547126). Non-covalently activated by the scorpion wasabi receptor toxin (PubMed:31447178). Activated by benzyl isothiocyanate (BITC), iodoacetamide, sulfhydryl reactive agent MTSEA, N-methyl maleimide (NMM), N-ethylmaleimide (NEM), and 2-aminoethyldiphenylborinate (2-APB) (PubMed:17164327, PubMed:17567811, PubMed:21873995, PubMed:27241698). Also activated by hyperoxia (PubMed:21873995).
messages: Belongs to the transient receptor (TC 1.A.4) family.
messages: C-terminal helices from the four subunits associate to form atypical coiled coil structure; this region is probably involved in binding the inositol polyphosphates that are required for optimal channel activity (in vitro).
messages: Cell membrane
messages: Expressed at very low levels in fibroblasts.
messages: Expressed in embryos at 12 weeks of age.
messages: Homotetramer (PubMed:25389312, PubMed:25855297). Interacts with TMEM100 (By similarity). Interacts with EGLN1 (By similarity). Interacts with the scorpion wasabi receptor toxin at the same site that electrophiles but in a non-covalent manner (PubMed:31447178).
messages: Hydroxylation is required for TRPA1 activity inhibition in normoxia. In hypoxia, the decrease in oxygen concentration diminishes the activity of the hydroxylase EGLN1, thus relieving TRPA1 from inhibition and ultimately leading to channel activation.
messages: Oxidation of Cys-633 and Cys-856 in hyperoxia may override the hydroxylase EGLN1-mediated inhibition, causing TRPA1 activation.
messages: Receptor-activated non-selective cation channel involved in pain detection and possibly also in cold perception, oxygen concentration perception, cough, itch, and inner ear function (PubMed:21873995, PubMed:23199233, PubMed:25389312, PubMed:25855297). Shows 8-fold preference for divalent over monovalent cations (PubMed:31447178). Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of irritants, such as allylthiocyanate (AITC) from mustard oil or wasabi, cinnamaldehyde, diallyl disulfide (DADS) from garlic, and acrolein, an irritant from tears gas and vehicle exhaust fumes (PubMed:25389312, PubMed:27241698, PubMed:30878828, PubMed:20547126). Acts also as an ionotropic cannabinoid receptor by being activated by delta(9)-tetrahydrocannabinol (THC), the psychoactive component of marijuana (PubMed:25389312). Is activated by a large variety of structurally unrelated electrophilic and non-electrophilic chemical compounds. Electrophilic ligands activate TRPA1 by interacting with critical N-terminal Cys residues in a covalent manner, whereas mechanisms of non-electrophilic ligands are not well determined. May be a component for the mechanosensitive transduction channel of hair cells in inner ear, thereby participating in the perception of sounds. Probably operated by a phosphatidylinositol second messenger system (By similarity).
messages: TRPA1 activation by electrophiles occurs though covalent modification of specific cysteine residues in the N-terminal cytoplasmic domain (PubMed:25389312).
messages: The ANK repeat domain consists of a convex stem structure formed by five ANK repeats and 11 additional ANK repeats that form a crescent-shaped structure that surrounds the protein core.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ALOX5AP
gene id: 9606:ALOX5AP
uniprot id: A0A087WW23
uniprot id: P20292
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MAPEG family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Endoplasmic reticulum membrane
messages: Genetic variations in ALOX5AP may be associated with susceptibility to myocardial infarction. Involvement in myocardial infarction is however unclear: according to some authors (PubMed:14770184), a 4-SNP haplotype in ALOX5AP confers risk of myocardial infarction, while according to other (PubMed:17304054) ALOX5AP is not implicated in this condition.
messages: Homotrimer. Interacts with LTC4S and ALOX5.
messages: Membrane
messages: Nucleus membrane
messages: Required for leukotriene biosynthesis by ALOX5 (5-lipoxygenase). Anchors ALOX5 to the membrane. Binds arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886, a compound that blocks the biosynthesis of leukotrienes.
messages: The C-terminal part after residue 140 is mostly unstructured.

9606:ZDHHC2
gene id: 9606:ZDHHC2
uniprot id: A0A140VKD9
uniprot id: Q9UIJ5
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Promotes Chikungunya virus (CHIKV) replication by mediating viral nsp1 palmitoylation.
messages: Autopalmitoylated.
messages: Belongs to the DHHC palmitoyltransferase family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Membrane
messages: Monomer (PubMed:23793055). Homodimer (PubMed:23793055). The monomeric form has a higher catalytic activity (PubMed:23793055).
messages: Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and is involved in a variety of cellular processes (PubMed:18508921, PubMed:18296695, PubMed:19144824, PubMed:21343290, PubMed:22034844, PubMed:23793055). Has no stringent fatty acid selectivity and in addition to palmitate can also transfer onto target proteins myristate from tetradecanoyl-CoA and stearate from octadecanoyl-CoA (By similarity). In the nervous system, plays a role in long term synaptic potentiation by palmitoylating AKAP5 through which it regulates protein trafficking from the dendritic recycling endosomes to the plasma membrane and controls both structural and functional plasticity at excitatory synapses (By similarity). In dendrites, mediates the palmitoylation of DLG4 when synaptic activity decreases and induces synaptic clustering of DLG4 and associated AMPA-type glutamate receptors (By similarity). Also mediates the de novo and turnover palmitoylation of RGS7BP, a shuttle for Gi/o-specific GTPase-activating proteins/GAPs, promoting its localization to the plasma membrane in response to the activation of G protein-coupled receptors. Through the localization of these GTPase-activating proteins/GAPs, it also probably plays a role in G protein-coupled receptors signaling in neurons (By similarity). Also probably plays a role in cell adhesion by palmitoylating CD9 and CD151 to regulate their expression and function (PubMed:18508921). Palmitoylates the endoplasmic reticulum protein CKAP4 and regulates its localization to the plasma membrane (PubMed:18296695, PubMed:19144824). Could also palmitoylate LCK and regulate its localization to the plasma membrane (PubMed:22034844).
messages: Postsynaptic density
messages: Postsynaptic recycling endosome membrane
messages: The DHHC domain is required for palmitoyltransferase activity.
messages: Ubiquitously expressed (PubMed:10918388, PubMed:22034844). Reduced expression in colorectal cancers with liver metastasis (PubMed:10918388).

9606:ASB15
gene id: 9606:ASB15
uniprot id: A0A384NYV2
uniprot id: Q8WXK1
names: Domain
names: Function
names: Similarity
messages: Belongs to the ankyrin SOCS box (ASB) family.
messages: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

9606:NR1H4
gene id: 9606:NR1H4
uniprot id: B6ZGS9
uniprot id: F1DAL1
uniprot id: Q96RI1
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated by EP300. Lys-227 as is the major acetylation site for EP300; the dynamicly regulated acetylation inhibits heterodimerization with RXRA and transactivation activity. Deacetylated by SIRT1.
messages: Belongs to the nuclear hormone receptor family. NR1 subfamily.
messages: Heterodimer (via C-terminus) with RXRA (via DBD); the heterodimerization enhances the binding affinity for LXXLL motifs from coactivators (PubMed:23462506, PubMed:30275017). Binds DNA predominantly as a heterodimer with RXRA. After activation by agonist binding interacts with coactivators. Interacts with NCOA1, NCOA2, PPARGC1A, CARM1, SETD7, PRMT1, GPS2, SMARCA4 and MED1 (PubMed:15202934, PubMed:14684751, PubMed:15187081, PubMed:15471871, PubMed:15911693, PubMed:17895379, PubMed:18755856, PubMed:19805516, PubMed:23462506, PubMed:12718892, PubMed:12718893, PubMed:18621523, PubMed:18391212, PubMed:19410460, PubMed:19586769). Interacts with EP300 and SMARCD1 (By similarity). Interacts with XRCC5 and XRCC6; decreasing NR1H4/FXR transactivation activity towards ABCB11/BSEP (PubMed:19833092). Interacts with PAGR1 and NCOA6; indicative for an association with an MLL2/MLL3 complex (ASCOM) (PubMed:19556342).
messages: Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of genes involved in BA synthesis, conjugation and enterohepatic circulation. Also regulates lipid and glucose homeostasis and is involved innate immune response (PubMed:10334992, PubMed:10334993, PubMed:21383957, PubMed:22820415). The FXR-RXR heterodimer binds predominantly to farnesoid X receptor response elements (FXREs) containing two inverted repeats of the consensus sequence 5'-AGGTCA-3' in which the monomers are spaced by 1 nucleotide (IR-1) but also to tandem repeat DR1 sites with lower affinity, and can be activated by either FXR or RXR-specific ligands. It is proposed that monomeric nuclear receptors such as NR5A2/LRH-1 bound to coregulatory nuclear responsive element (NRE) halfsites located in close proximity to FXREs modulate transcriptional activity (By similarity). In the liver activates transcription of the corepressor NR0B2 thereby indirectly inhibiting CYP7A1 and CYP8B1 (involved in BA synthesis) implicating at least in part histone demethylase KDM1A resulting in epigenomic repression, and SLC10A1/NTCP (involved in hepatic uptake of conjugated BAs). Activates transcription of the repressor MAFG (involved in regulation of BA synthesis) (By similarity). Activates transcription of SLC27A5/BACS and BAAT (involved in BA conjugation), ABCB11/BSEP (involved in bile salt export) by directly recruiting histone methyltransferase CARM1, and ABCC2/MRP2 (involved in secretion of conjugated BAs) and ABCB4 (involved in secretion of phosphatidylcholine in the small intestine) (PubMed:12754200, PubMed:15471871, PubMed:17895379). Activates transcription of SLC27A5/BACS and BAAT (involved in BA conjugation), ABCB11/BSEP (involved in bile salt export) by directly recruiting histone methyltransferase CARM1, and ABCC2/MRP2 (involved in …
messages: Liver and hepatocyte-related cells express mainly FXRalpha1-type isoforms with isoform 3 and isoform 4 in approximately equal proportions. In intestine and kidney mainly FXRalpha2-type isoforms are expressed with isoform 1 and isoform 2 in approximately equal proportions. Expressed in pancreatic beta cells and macrophages.
messages: May be involved in cholesterol cholelithiasis.
messages: May be involved in intrahepatic cholestasis of pregnancy.
messages: Methylation may increase transactivation of target genes.
messages: Nucleus
messages: Phosphorylation by PKC/PRKCA increases transactivation activity by promoting association with PPARGC1A.
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform 1.
messages: Produced by alternative splicing of isoform 3.
messages: Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, ACA and DCA), NR0B2/SHP (inducible by unconjugated CDCA, ACA and DCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; most efficient isoform compared to isoforms 1 to 3; not inducible by taurine- and glycine-amidated CDCA.
messages: Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA), NR0B2/SHP (inducible by unconjugated CDCA DCA and ACA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; not inducible by taurine- and glycine-amidated CDCA.
messages: Promotes transcriptional activation of target genes NR0B2/SHP (inducible by unconjugated CDCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; low activity for ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA); not inducible by taurine- and glycine-amidated CDCA.
messages: Promotes transcriptional activation of target genes NR0B2/SHP (inducible by unconjugated CDCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and IBAP; low activity for ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA); not inducible by taurine- and glycine-amidated CDCA.
messages: Sumoylated upon ligand binding.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ursodeoxycholic acid (UDCA), a natural agonist of FXR, is approved to treat primary biliary cirrhosis. However, effects are discussed controversial. UDCA is also used to dissolve (cholesterol) gallstones as alternative to surgery.

9606:RPH3A
gene id: 9606:RPH3A
uniprot id: Q9Y2J0
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Binds calcium via the C2 domains. The calcium-bound C2 domains mediate interactions with phospholipid bilayers (By similarity).
messages: Interacts with RAB3B, RAB3C, RAB3D, RAB8A, RAB27A and RAB27B (By similarity). Interacts with RAB3A; this interaction recruits RPH3A to synaptic vesicules (PubMed:15207266). Interacts (via C2B domain) with SNAP25 (By similarity). Interacts with deubiquitinating enzyme CAND1; this interaction results in the deubiquitination of RPH3A (By similarity). Interacts with GRIN2A and DLG4; this ternary complex regulates NMDA receptor composition at postsynaptic membranes (By similarity). Interacts with SNCA (PubMed:15207266).
messages: Membrane
messages: Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP-dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Also plays a role in the exocytosis of arginine vasopressin hormone (By similarity).
messages: Postsynaptic cell membrane
messages: Ubiquitinated. Deubiquitinated by CAND1 to prevent its degradation.
messages: dendritic spine
messages: synaptic vesicle membrane

9606:MSS51
gene id: 9606:MSS51
uniprot id: Q4VC12
names: Caution
messages: Although no clear MSS51 ortholog is encoded in mammalian genomes, the mammalian MSS51/ZMYND17 protein is significantly similar. Considered by a number of resources to be the ortholog of yeast MSS51.

9606:CYB5R2
gene id: 9606:CYB5R2
uniprot id: A8K237
uniprot id: Q6BCY4
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
messages: NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1).
messages: Restricted expression.

9606:RHOXF2
gene id: 9606:RHOXF2
uniprot id: Q9BQY4
names: Caution
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the paired-like homeobox family. PEPP subfamily.
messages: Nucleus
messages: Predominantly expressed in early stage germ cells, type-B spermatogonia and early spermatocytes.
messages: RHOF2 and RHOF2B are arranged in a head-to-head orientation and share high sequence similarity (>99%). They cannot easily be distinguished and are usually analyzed as a single gene.
messages: Testis. Not detected in epididymis nor placenta. In testis, mainly expressed in germ cells, but also detected in somatic cells such as Sertoli cells, Leydig cells and peritubular cells (PubMed:28171660).
messages: Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.

9606:SUDS3
gene id: 9606:SUDS3
uniprot id: Q9H7L9
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SDS3 family.
messages: Expressed in various cancer cell ines.
messages: Homodimer. Component of the SIN3 histone deacetylase (HDAC) corepressor complex. Interacts with SIN3A. Interaction with SIN3B enhances the interaction between SIN3B and HDAC1 to form a complex (By similarity). Interacts with HCFC1. Component of a mSin3A corepressor complex that contains SIN3A, SAP130, SUDS3/SAP45, ARID4B/SAP180, HDAC1 and HDAC2. Interacts with USP17L2; the interaction is direct. Interacts with FOXK2 (PubMed:25805136).
messages: Nucleus
messages: Polyubiquitinated. 'Lys-63'-polyubiquitinated SUDS3 positively regulates histone deacetylation. Regulated through deubiquitination by USP17L2/USP17 that cleaves 'Lys-63'-linked ubiquitin chains.
messages: Regulatory protein which represses transcription and augments histone deacetylase activity of HDAC1. May have a potential role in tumor suppressor pathways through regulation of apoptosis. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes.
messages: The C-terminus is involved in transcriptional repression by HDAC-independent mechanisms.

9606:ARMC9
gene id: 9606:ARMC9
uniprot id: A0A024R486
uniprot id: Q7Z3E5
names: Disease Annotation
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with TOGARAM1, CCDC66, CEP104, CSPP1 and CEP290.
messages: Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Acts as a positive regulator of hedgehog (Hh)signaling (By similarity). May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip (By similarity).
messages: Strongly expressed in most melanomas and melanocytes. Weakly expressed in the testis.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated in response to serum starvation in fibroblasts.
messages: centriole
messages: cilium
messages: cilium basal body

9606:RTL8A
gene id: 9606:RTL8A
uniprot id: Q9BWD3
names: Miscellaneous
names: Similarity
messages: Belongs to the FAM127 family.
messages: RTL8A is one of at least 11 genes called Mar or Mart related to long terminal repeat retrotransposons. They do not correspond to functional retrotransposons, but rather to neofunctionalized retrotransposons genes.

9606:F8A3
gene id: 9606:F8A3
uniprot id: P23610
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Early endosome
messages: Interacts with HTT (via C-terminus) (PubMed:29466333). Interacts with RAB5A (By similarity). Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A onto early endosomes (By similarity).
messages: Nucleus
messages: Produced abundantly in a wide variety of cell types.
messages: RAB5A effector molecule that is involved in vesicular trafficking of early endosomes (PubMed:16476778). Mediates the recruitment of HTT by RAB5A onto early endosomes. The HTT-F8A1/F8A2/F8A3-RAB5A complex stimulates early endosomal interaction with actin filaments and inhibits interaction with microtubules, leading to the reduction of endosome motility (PubMed:16476778).
messages: Up-regulated in brain tissue from patients affected by Huntington's disease (at protein level) (PubMed:16476778). In a Huntington's disease mouse model overexpression of F8A1/F8A2/F8A3 impairs proteasome activity leading to the accumulation of mutant HTT and causes defective mitochondrial functions (PubMed:27815841, PubMed:29209146).
messages: nuclear body

9606:MAIP1
gene id: 9606:MAIP1
uniprot id: Q8WWC4
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with AFG3L2 (PubMed:27499296, PubMed:27642048). Interacts with SPG7 (PubMed:27499296). Interacts with SMDT1/EMRE (via the N-terminal transit peptide); interaction is direct and takes place before maturation of SMDT1/EMRE (PubMed:27642048).
messages: Mitochondrion matrix
messages: Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation (PubMed:27642048). Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048).

9606:VCAM1
gene id: 9606:VCAM1
uniprot id: P19320
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: By cytokines (e.g. IL-1, TNF-alpha).
messages: Either the first or the fourth Ig-like C2-type domain is required for VLA4-dependent cell adhesion.
messages: Expressed on inflamed vascular endothelium, as well as on macrophage-like and dendritic cell types in both normal and inflamed tissue.
messages: Important in cell-cell recognition. Appears to function in leukocyte-endothelial cell adhesion. Interacts with integrin alpha-4/beta-1 (ITGA4/ITGB1) on leukocytes, and mediates both adhesion and signal transduction. The VCAM1/ITGA4/ITGB1 interaction may play a pathophysiologic role both in immune responses and in leukocyte emigration to sites of inflammation.
messages: Major isoform.
messages: Membrane
messages: Sialoglycoprotein.

9606:DEAF1
gene id: 9606:DEAF1
uniprot id: O75398
names: Caution
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Defective DEAF1 could confer a growth advantage to the mutated cells influencing the development and progression of neoplasia, e.g. in the case of colorectal carcinomas. Subcellular location in colorectal carcinomas (cytoplasmic or nuclear) is a prognostic factor that identifies a subgroup of patients with reduced survival. In addition, changes in the subcellular location correlates with the proliferative status of the cells.
messages: Expressed in various tissues and cells such as in peripheral mononuclear cells and hormone-secreting pituitary cells. Expression in pancreatic lymph nodes of patients with type 1 diabetes is 20 times higher than in healthy controls. Highly expressed in fetal and adult brain.
messages: Has no predictable signal peptide.
messages: Homodimer. Isoform 1 and isoform 4 may form a heterodimer. Interacts with LMO2 and CLIM2 (By similarity). Interacts with LMO4; LMO4 blocks export from nucleus (By similarity). May interact with the corepressors NCOR1 and NCRO2. Identified in a complex with the XRCC5 and XRCC6 heterodimer. Interacts (via the SAND domain) with the DNA-PK complex subunit XRCC6; the interaction is direct and may be inhibited by DNA-binding.
messages: May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro).
messages: Nucleus
messages: Secreted
messages: Several sequencing errors.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This protein was first known as suppressin (characterized in bovine neuroendocrine and immune cells). However, according to PubMed:9773984, it is uncertain whether it corresponds really to the suppressin also described in Ref.4. DEAF1 has been described as a nuclear dimeric protein and suppressin as a secreted monomeric protein.
messages: Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.

9606:LSS
gene id: 9606:LSS
uniprot id: B2R694
uniprot id: P48449
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the terpene cyclase/mutase family.
messages: Endoplasmic reticulum membrane
messages: Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:7639730, PubMed:26200341). Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341).
messages: Monomer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Expressed in the hair bulb, the outer root sheath and hair matrix of the hair follicle epithelium. Also detected in dermal papilla, epidermis, sweat glands, sebaceous glands, and blood vessels.

9606:CDH1
gene id: 9606:CDH1
uniprot id: A0A0U2ZQU7
uniprot id: P12830
uniprot id: Q9UII7
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Cleaved by S.pyogenes SpeB protease; leading to its degradation (PubMed:23532847). Degradation by SpeB promotes bacterial translocation across the host epithelial barrier (PubMed:23532847).
messages: (Microbial infection) Interacts with L.monocytogenes InlA (PubMed:12526809, PubMed:17540170, PubMed:17715295). The formation of the complex between InlA and cadherin-1 is calcium-dependent (PubMed:12526809).
messages: (Microbial infection) Serves as a receptor for Listeria monocytogenes; internalin A (InlA) binds to this protein and promotes uptake of the bacteria.
messages: Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7.
messages: Cadherins are calcium-dependent cell adhesion proteins.
messages: Cell membrane
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. Heterozygous CDH1 germline mutations are responsible for familial cases of diffuse gastric cancer. Somatic mutations has also been found in patients with sporadic diffuse gastric cancer and lobular breast cancer.
messages: During apoptosis or with calcium influx, cleaved by a membrane-bound metalloproteinase (ADAM10), PS1/gamma-secretase and caspase-3 (PubMed:11076937, PubMed:11953314, PubMed:10597309). Processing by the metalloproteinase, induced by calcium influx, causes disruption of cell-cell adhesion and the subsequent release of beta-catenin into the cytoplasm (PubMed:10597309). The residual membrane-tethered cleavage product is rapidly degraded via an intracellular proteolytic pathway (PubMed:10597309). Cleavage by caspase-3 releases the cytoplasmic tail resulting in disintegration of the actin microfilament system (PubMed:11076937). The gamma-secretase-mediated cleavage promotes disassembly of adherens junctions (PubMed:11953314). During development of the cochlear organ of Corti, cleavage by ADAM10 at adherens junctions promotes pillar cell separation (By similarity).
messages: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production.
messages: Endosome
messages: Expression is repressed by MACROD1.
messages: Homodimer; disulfide-linked (PubMed:11856755). Component of an E-cadherin/ catenin adhesion complex composed of at least E-cadherin/CDH1, beta-catenin/CTNNB1 or gamma-catenin/JUP, and potentially alpha-catenin/CTNNA1; the complex is located to adherens junctions (PubMed:16126725, PubMed:7982500). Interacts with the TRPV4 and CTNNB1 complex (By similarity). Interacts with CTNND1 (PubMed:15240885). The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex (By similarity). Alternatively, the CTNNA1-containing complex may be linked to F-actin by other proteins such as LIMA1 (By similarity). Interaction with PSEN1, cleaves CDH1 resulting in the disassociation of cadherin-based adherens junctions (CAJs) (PubMed:11226248, PubMed:16126725). Interacts with AJAP1 and DLGAP5 (PubMed:14699157, PubMed:14595118). Interacts with TBC1D2 (PubMed:20116244). Interacts with LIMA1 (PubMed:18093941). Interacts with CAV1. Interacts with PIP5K1C (PubMed:17261850). Interacts with RAB8B (By similarity). Interacts with RAPGEF2 (By similarity). Interacts with DDR1; this stabilizes CDH1 at the cell surface and inhibits its internalization (PubMed:20432435). Interacts with KLRG1 (PubMed:19604491). Forms a ternary complex composed of ADAM10, CADH1 and EPHA4; within the complex, CADH1 is cleaved by ADAM10 which disrupts adherens junctions (By similarity). Interacts with SPEF1 (PubMed:31473225). Interacts with CTNNB1 and PKP2 (PubMed:11790773).
messages: Membrane
messages: N-glycosylation at Asn-637 is essential for expression, folding and trafficking. Addition of bisecting N-acetylglucosamine by MGAT3 modulates its cell membrane location (PubMed:19403558).
messages: Non-neural epithelial tissues.
messages: O-glycosylated. O-manosylated by TMTC1, TMTC2, TMTC3 or TMTC4. Thr-285 and Thr-509 are O-mannosylated by TMTC2 or TMTC4 but not TMTC1 or TMTC3.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry may be involved in disease pathogenesis.
messages: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
messages: Ubiquitinated by a SCF complex containing SKP2, which requires prior phosphorylation by CK1/CSNK1A1. Ubiquitinated by CBLL1/HAKAI, requires prior phosphorylation at Tyr-754.
messages: adherens junction
messages: trans-Golgi network

9606:DDO
gene id: 9606:DDO
uniprot id: Q99489
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the DAMOX/DASOX family.
messages: Peroxisome
messages: Selectively catalyzes the oxidative deamination of D-aspartate and its N-methylated derivative, N-methyl D-aspartate.

9606:PRDM7
gene id: 9606:PRDM7
uniprot id: Q9NQW5
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
messages: Chromosome
messages: Histone methyltransferase that selectively methylates 'Lys-4' of dimethylated histone H3 (H3K4me2) to produce trimethylated 'Lys-4' histone H3 (H3K4me3). May play a role in epigenetic regulation of gene expression by defining an active chromatin state.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus

9606:GSTA5
gene id: 9606:GSTA5
uniprot id: Q7RTV2
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GST superfamily. Alpha family.
messages: Cytoplasm
messages: Expression not detected.
messages: Homodimer.

9606:RIMBP3C
gene id: 9606:RIMBP3C
uniprot id: A6NJZ7
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RIMBP family.
messages: Interacts with LRGUK (via guanylate kinase-like domain). Interacts (via C-terminus) with HOOK1 (via coiled-coil region) (By similarity). May interact with FASLG (PubMed:19807924).
messages: It is uncertain whether Met-1 or Met-95 is the initiator.
messages: Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development.
messages: cytoskeleton

9606:ZNF493
gene id: 9606:ZNF493
uniprot id: Q6ZR52
names: Function
names: Subcellular Location Annotation
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:TRMT6
gene id: 9606:TRMT6
uniprot id: Q9UJA5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRM6/GCD10 family.
messages: Expressed in brain, liver, testis and ovary.
messages: Heterotetramer; composed of two copies of TRMT6 and two copies of TRMT61A.
messages: Nucleus
messages: Substrate-binding subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA (PubMed:16043508). Together with the TRMT61A catalytic subunit, part of a mRNA N(1)-methyltransferase complex that mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries (PubMed:29107537, PubMed:29072297).

9606:OR5C1
gene id: 9606:OR5C1
uniprot id: A0A126GW42
uniprot id: Q8NGR4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:CD80
gene id: 9606:CD80
uniprot id: P33681
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for adenovirus subgroup B.
messages: (Microbial infection) Interacts with Orthopoxvirus OPG038/M2 protein, inhibiting the interaction with CTLA4/CD152.
messages: (Microbial infection) Interacts with adenovirus subgroup B fiber proteins.
messages: Expressed on activated B-cells, macrophages and dendritic cells.
messages: Homodimer; CD80 dimers on the antigen presenting cells (APCs) bridge CTLA4/CD152 dimers on T-cells in a periodic zipper-like arrangement.
messages: Involved in the costimulatory signal essential for T-lymphocyte activation. T-cell proliferation and cytokine production is induced by the binding of CD28, binding to CTLA-4 has opposite effects and inhibits T-cell activation.
messages: Membrane
messages: Soluble isoform. Expressed in T-cells activated by ConA, non-activated monocytes and monocytes activated with IFN-c.
messages: Soluble isoform. Expressed in unstimulated B-cells and monocytes, but not T-cells.

9606:SORCS2
gene id: 9606:SORCS2
uniprot id: Q96PQ0
names: Caution
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the VPS10-related sortilin family. SORCS subfamily.
messages: Cell membrane
messages: Cell projection
messages: Cytoplasmic vesicle membrane
messages: Detected on neurons in the caudate region (PubMed:28469074). Detected on neurons in the hippocampus (at protein level) (PubMed:30840898). Highly expressed in brain and kidney. Detected at low levels in heart, liver, small intestine, skeletal muscle and thymus (PubMed:11499680).
messages: Does not promote Schwann cell apoptosis in response to proBDNF.
messages: Early endosome membrane
messages: Expression is decreased in the brains of Huntington disease (HD) patients after the onset of symptoms.
messages: Homodimer (in vitro) (By similarity). Heterodimer with NGFR. The extracellular domains of the heterodimer bind the precursor form of NGF (proNGF) (PubMed:22155786, PubMed:24908487). Has much higher affinity for proNGF than for mature NGF (PubMed:24908487). Can also bind mature NGF and BDNF (By similarity). Each chain in the receptor dimer interacts (via extracellular domain) with an NGF dimer (in vitro) (By similarity). Interacts with the precursor forms of BDNF (proBDNF) and NTF3 (proNT3) (PubMed:24908487). The cytoplasmic region of the heterodimer formed by NGFR and SORCS2 binds TRIO. ProNGF binding mediates dissociation of TRIO from the receptor complex (PubMed:22155786). Interacts with SLC1A1. Interacts with VPS35. Interacts (via extracellular domain) with NTRK2 (via extracellular domain). Interacts with VPS35. Interacts (via extracellular domain) with GRIN2A (By similarity).
messages: N-glycosylated.
messages: Perikaryon
messages: Postsynaptic density membrane
messages: Proteolytic cleavage removes a propeptide, giving rise to a 122 kDa chain that includes a cytoplasmic tail. Further cleavage gives rise to a 104 kDa chain that lacks the cytoplasmic tail, and a membrane-bound 18 kDa chain. The 104 kDa chain remains bound to the 18 kDa chain.
messages: Recycling endosome membrane
messages: SorCS2 104 kDa chain and SorCS2 18 kDa chain together promote Schwann cell apoptosis in response to proBDNF.
messages: The N-terminus of the protein was constructed in analogy to that of the mouse ortholog using the sequence of chromosome 4.
messages: The heterodimer formed by NGFR and SORCS2 functions as receptor for the precursor forms of NGF (proNGF) and BDNF (proBDNF) (PubMed:22155786, PubMed:24908487). ProNGF and proBDNF binding both promote axon growth cone collapse (in vitro) (PubMed:22155786, PubMed:24908487). Plays a role in the regulation of dendritic spine density in hippocampus neurons (By similarity). Required for normal neurite branching and extension in response to BDNF (PubMed:27457814). Plays a role in BDNF-dependent hippocampal synaptic plasticity. Together with NGFR and NTRK2, is required both for BDNF-mediated synaptic long-term depression and long-term potentiation (PubMed:27457814). ProNGF binding promotes dissociation of TRIO from the heterodimer, which leads to inactivation of RAC1 and/or RAC2 and subsequent reorganization of the actin cytoskeleton (PubMed:22155786). Together with the retromer complex subunit VPS35, required for normal expression of GRIN2A at synapses and dendritic cell membranes. Required for normal expression of the amino acid transporter SLC1A1 at the cell membrane, and thereby contributes to protect cells against oxidative stress (By similarity).
messages: dendrite
messages: dendritic spine
messages: synaptosome

9606:ATP1A3
gene id: 9606:ATP1A3
uniprot id: P13637
uniprot id: Q53ES0
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
messages: Cell membrane
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit. Interacts with regulatory subunit FXYD1.
messages: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.

9606:SSX4B
gene id: 9606:SSX4B
uniprot id: O60224
names: Function
names: Sequence Caution
names: Similarity
messages: Belongs to the SSX family.
messages: Could act as a modulator of transcription.
messages: Several sequencing errors.

9606:PRICKLE3
gene id: 9606:PRICKLE3
uniprot id: A0A024QYW5
uniprot id: B7Z5U0
uniprot id: B7Z8D2
uniprot id: H0Y413
uniprot id: O43900
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the prickle / espinas / testin family.
messages: Cell membrane
messages: Cytoplasm
messages: Interacts with VANGL2 via its C-terminus (By similarity). The VANGL2-dependent membrane recruitment of PRICKLE3 is a prerequisite for its polarization (By similarity). Interacts with WTIP. WTIP is involved in the recruitment of PRICKLE3 to the basal body (By similarity). Interacts with MT-ATP8, a component of the mitochondrial complex V (PubMed:32516135).
messages: Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation (By similarity). PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module (By similarity). Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions (By similarity). Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity). Required for proper assembly, stability, and function of mitochondrial membrane ATP synthase (mitochondrial complex V) (PubMed:32516135).
messages: Mitochondrion
messages: The gene represented in this entry acts as a disease modifier.
messages: Widely expressed.

9606:MTNR1A
gene id: 9606:MTNR1A
uniprot id: P48039
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in hypophyseal pars tuberalis and hypothalamic suprachiasmatic nuclei (SCN). Hippocampus.
messages: High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity.

9606:POF1B
gene id: 9606:POF1B
uniprot id: Q8WVV4
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with nonmuscle actin.
messages: Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: tight junction

9606:CCDC90B
gene id: 9606:CCDC90B
uniprot id: Q9GZT6
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CCDC90 family.
messages: Interacts with MCU (PubMed:27184846).
messages: Mitochondrion membrane

9606:RUVBL2
gene id: 9606:RUVBL2
uniprot id: B3KNL2
uniprot id: Q9Y230
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RuvB family.
messages: Cytoplasm
messages: Dynein axonemal particle
messages: Forms homohexameric rings (PubMed:33205750). Can form a dodecamer with RUVBL1 made of two stacked hexameric rings; however, even though RUVBL1 and RUVBL2 are present in equimolar ratio, the oligomeric status of each hexamer is not known (PubMed:33205750). Oligomerization may regulate binding to nucleic acids and conversely, binding to nucleic acids may affect the dodecameric assembly. Interaction of the complex with DHX34 results in conformational changes of the N-terminus of the RUVBL2 subunits, resulting in loss of nucleotide binding ability and ATP hydrolysis of the complex (PubMed:33205750). Interacts with the transcriptional activation domain of MYC. Interacts With ATF2. Component of the RNA polymerase II holoenzyme complex. May also act to bridge the LEF1/TCF1-CTNNB1 complex and TBP. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. RUVBL2 interacts with EP400. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with NPAT. Component of the chromatin-remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with IGHMBP2. Interacts with TELO2. Interacts with HINT1. Component of a SWR1-li…
messages: Membrane
messages: Nucleus
messages: Nucleus matrix
messages: Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5' to 3') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity (PubMed:10428817, PubMed:17157868, PubMed:33205750). Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:14966270). This modification may both alter nucleosome -DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair (PubMed:14966270). The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400 (PubMed:14966270). NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage (PubMed:14966270). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome (PubMed:24463511). Proposed core component of the chromatin remodeling INO80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding (PubMed:16230350, PubMed:21303910). Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex (PubMed:10882073, PubMed:16014379). May also inhibit the transcriptional activity of ATF2 (PubMed:11713276). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes (PubMed:25652260). May play a role in regulating …
messages: Proposed core component of the chromatin remodeling Ino80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding.
messages: The C-terminal domain is required for association with ATF2.
messages: Ubiquitously expressed. Highly expressed in testis and thymus.
messages: nucleoplasm

9606:GFRA4
gene id: 9606:GFRA4
uniprot id: Q9GZZ7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GDNFR family.
messages: Cell membrane
messages: Interacts with SORL1.
messages: Predominantly expressed in the adult thyroid gland. Low levels also found in fetal adrenal and thyroid glands.
messages: Receptor for persephin. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. May be important in C-cell development and, in the postnatal development of the adrenal medulla.
messages: Secreted

9606:NUDT5
gene id: 9606:NUDT5
uniprot id: Q9UKK9
names: Cofactor
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Nudix hydrolase family.
messages: Binds 3 Mg(2+) ions per subunit.
messages: Enzyme that can either act as an ADP-sugar pyrophosphatase in absence of diphosphate or catalyze the synthesis of ATP in presence of diphosphate (PubMed:27257257). In absence of diphosphate, hydrolyzes with similar activities various modified nucleoside diphosphates such as ADP-ribose, ADP-mannose, ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP (PubMed:10567213, PubMed:10722730, PubMed:19699693, PubMed:21389046, PubMed:17052728). Can also hydrolyze other nucleotide sugars with low activity (PubMed:19699693, PubMed:21389046). In presence of diphosphate, mediates the synthesis of ATP in the nucleus by catalyzing the conversion of ADP-ribose to ATP and ribose 5-phosphate. Nuclear ATP synthesis takes place when dephosphorylated at Thr-45 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Does not play a role in U8 snoRNA decapping activity (By similarity). Binds U8 snoRNA (By similarity).
messages: Homodimer (PubMed:27257257, PubMed:17052728, PubMed:18462755, PubMed:21768126). Interacts with PARG (PubMed:27257257).
messages: Nucleus
messages: Overexpressed in cancer patients with a poor outcome.
messages: Phosphorylation at Thr-45 is required for homodimer stability; dephosphorylation results in destabilization of the homodimer. Dephosphorylation at Thr-45 promotes the ATP-synthesis activity.
messages: Widely expressed. Most abundant in liver.

9606:RALGAPA2
gene id: 9606:RALGAPA2
uniprot id: Q2PPJ7
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.
messages: Component of the heterodimeric RalGAP2 complex with RALGAPB. Heterodimerization is required for activity (By similarity).
messages: Cytoplasm

9606:HEXD
gene id: 9606:HEXD
uniprot id: Q8WVB3
names: Activity Regulation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyl hydrolase 20 family.
messages: Cytoplasm
messages: Expressed in synovial fibroblasts and synovial membranes.
messages: Expression is inhibited by TGFB1.
messages: Extracellular vesicle
messages: Has hexosaminidase activity. Responsible for the cleavage of the monosaccharides N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) from cellular substrates. Has a preference for galactosaminide over glucosaminide substrates (PubMed:27149221).
messages: Homodimer; disulfide-linked.
messages: Inhibited by O-(2-acetamido-2-deoxy-D-glucopyranosylidene)amino N-phenylcarbamate (PUGNAc) (By similarity). Inhibited by galacto-NAG-thiazoline (PubMed:27149221).
messages: Nucleus

9606:UCN2
gene id: 9606:UCN2
uniprot id: Q96RP3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family.
messages: Binds with high affinity to CRF receptors 2-alpha and 2-beta.
messages: Glycosylated.
messages: Secreted
messages: Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress.

9606:CD320
gene id: 9606:CD320
uniprot id: Q9NPF0
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Detected in the germinal center (GC) of lymphoid follicles (at protein level) (PubMed:11418631). Expressed abundantly on follicular dendritic cells (FDCs) (PubMed:10727470).
messages: Interacts (via LDL-receptor class A domains) with TCN2 (PubMed:27411955).
messages: Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631).
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:DDX19B
gene id: 9606:DDX19B
uniprot id: Q9UMR2
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: ATP-dependent RNA helicase involved in mRNA export from the nucleus (PubMed:10428971). Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (PubMed:10428971).
messages: Associates with the nuclear pore complex via interaction with NUP214 (PubMed:10428971, PubMed:19208808, PubMed:19219046). Interacts with NUP214 or RNA in a mutually exclusive manner (PubMed:19208808, PubMed:19219046, PubMed:19244245).
messages: Belongs to the DEAD box helicase family. DDX19/DBP5 subfamily.
messages: Cytoplasm
messages: The N-terminal extension helix acts as an autoinhibitory domain, preventing ATP hydrolysis, unless the N-terminus of the protein is displaced by RNA binding, allowing cleft closure to bring key side chains into position for catalysis.
messages: nucleoplasm

9606:LBP
gene id: 9606:LBP
uniprot id: P18428
uniprot id: Q8TCF0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
messages: Cytoplasmic granule membrane
messages: Detected in blood serum (at protein level).
messages: Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria (PubMed:7517398, PubMed:24120359). Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide (PubMed:7517398, PubMed:24120359).
messages: Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria. Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide.
messages: Secreted
messages: When bound to LPS, interacts (via C-terminus) with soluble and membrane-bound CD14.

9606:SLC38A1
gene id: 9606:SLC38A1
uniprot id: Q9H2H9
names: Activity Regulation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the amino acid/polyamine transporter 2 family.
messages: Cell membrane
messages: Down-regulated by bacterial lipopolysaccharides (LPS) in glial cells (PubMed:12388062). Down-regulated upon hypoxia (PubMed:16583402).
messages: Expressed in the cerebral cortex by pyramidal and GABAergic neurons, astrocytes and other non-neuronal cells (at protein level). Expressed in placenta, heart, lung, skeletal muscle, spleen, stomach and testis (PubMed:10891391, PubMed:12388062, PubMed:15054072, PubMed:16148032). Highly expressed in cytotrophoblast cells from term placenta (PubMed:20599747).
messages: Inhibited by alpha-(methylamino)isobutyric acid (MeAIB). Inhibited by lithium, potassium, choline ions, N-methylglucamine. The pH dependence has an allosteric effect on the transport.
messages: N-glycosylation plays an important role in the L-glutamine transport.
messages: Symporter that cotransports short-chain neutral amino acids and sodium ions from the extraccellular to the intracellular side of the cell membrane (PubMed:20599747, PubMed:10891391). The transport is elctrogenic, pH dependent and driven by the Na(+) electrochemical gradient (PubMed:10891391). Participates in the astroglia-derived glutamine transport into GABAergic interneurons for neurotransmitter GABA de novo synthesis (By similarity). May also contributes to amino acid transport in placental trophoblasts (PubMed:20599747). Also regulates synaptic plasticity (PubMed:12388062).

9606:DUSP5
gene id: 9606:DUSP5
uniprot id: Q16690
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
messages: Dual specificity protein phosphatase; active with phosphotyrosine, phosphoserine and phosphothreonine residues. The highest relative activity is toward ERK1.
messages: Nucleus

9606:OR2A12
gene id: 9606:OR2A12
uniprot id: Q8NGT7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:CSNK2B
gene id: 9606:CSNK2B
uniprot id: A0A1U9X7J2
uniprot id: N0E4C7
uniprot id: P67870
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Belongs to the casein kinase 2 subunit beta family.
messages: Casein kinase II/CK2 is a tetramer composed of an alpha subunit, an alpha' subunit and two beta subunits. The beta subunit dimerization is mediated by zinc ions. Interacts with DYNLT2 (By similarity). Interacts with CD163. Also a component of a CK2-SPT16-SSRP1 complex composed of SSRP1, SUPT16H, CSNK2A1, CSNK2A2 and CSNK2B, the complex associating following UV irradiation. Interacts with MUSK; mediates phosphorylation of MUSK by CK2. Interacts with FGF1; this interaction is increased in the presence of FIBP, suggesting a possible cooperative interaction between CSNKB and FIBP in binding to FGF1.
messages: Phosphorylated by alpha subunit.
messages: Regulatory subunit of casein kinase II/CK2. As part of the kinase complex regulates the basal catalytic activity of the alpha subunit a constitutively active serine/threonine-protein kinase that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine (PubMed:11239457, PubMed:16818610). Participates in Wnt signaling (By similarity).
messages: Regulatory subunit of casein kinase II/CK2. As part of the kinase complex regulates the basal catalytic activity of the alpha subunit a constitutively active serine/threonine-protein kinase that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Participates in Wnt signaling.
messages: Tetramer of two alpha and two beta subunits.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:OR5H14
gene id: 9606:OR5H14
uniprot id: A6NHG9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:LEP
gene id: 9606:LEP
uniprot id: A4D0Y8
uniprot id: P41159
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adipose tissue is the main source of leptin. It is also produced by other peripheral tissues such as the skeletal muscle (PubMed:7789654, PubMed:16052473, PubMed:12448771). Expressed by intercalated and striated tracts of submandibular and parotid salivary gland intralobular ducts (PubMed:12448771). Detected by fundic epithelium of the gastric mucosa (PubMed:10896907). Secreted into blood and gastric juice (PubMed:10896907).
messages: Belongs to the leptin family.
messages: Induced by secretin.
messages: Interacts with SIGLEC6.
messages: Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (PubMed:17344214, PubMed:15899045, PubMed:19688109). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity (By similarity) (PubMed:8589726, PubMed:11460888, PubMed:19688109, PubMed:24340098, PubMed:25060689). In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides (By similarity). In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption (PubMed:24340098). Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways (By similarity) (PubMed:17344214). May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression (PubMed:18242580). Pro-angiogenic, has mitogenic activity on vascular endothelial…
messages: Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways. In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity. In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides. In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption. Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways. May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression. Pro-angiogenic, has mitogenic activity on vascular endothelial cells and plays a role in matrix remodeling by regulating the expression of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs). In innate immunity, modulates the activity and function of neutrophils by in…
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SLC38A6
gene id: 9606:SLC38A6
uniprot id: Q8IZM9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the amino acid/polyamine transporter 2 family.
messages: Cell membrane
messages: Probable sodium-dependent amino acid/proton antiporter, could be a neuronal transporter for glutamate.

9606:RBM14
gene id: 9606:RBM14
uniprot id: Q96PK6
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in all tissues tested, including brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood lymphocytes.
messages: Isoform 1 may function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. Isoform 2, functions as a transcriptional repressor, modulating transcriptional activities of coactivators including isoform 1, NCOA6 and CITED1 (PubMed:11443112). Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CENPJ complex (which can induce the formation of aberrant centriolar protein complexes) by interfering with the interaction of STIL with CENPJ (PubMed:25385835). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).
messages: Isoform 1: Interacts with NCOA6, CITED1 and XRCC5/KU86 (PubMed:11443112). Isoform 1: Interacts with SS18 isoform 1 (PubMed:15919756). Isoform 1: Interacts with SS18 isoform 2 (PubMed:15919756). Interacts with STIL and interferes with its interaction with CENPJ. Interacts with gamma-tubulin (PubMed:25385835).Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA.
messages: Nucleus
messages: nucleolus

9606:PRND
gene id: 9606:PRND
uniprot id: A7U7M2
uniprot id: Q9UKY0
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A short helical region is required and sufficient for Cu(2+) binding.
messages: Belongs to the prion family.
messages: Cell membrane
messages: Expressed in testis, in Sertoli cells, ejaculated spermatozoa and in seminal fluid (at protein level).
messages: Membrane
messages: N-glycosylated. N-glycosylated at two distinct sites.
messages: O-glycosylated.
messages: Required for normal acrosome reaction and for normal male fertility (By similarity). Can bind Cu(2+) (PubMed:15218028, PubMed:20411530).

9606:ABCF2-H2BK1
gene id: 9606:ABCF2-H2BK1
uniprot id: A0A090N7Y2
uniprot id: Q9UG63
names: Caution
names: Similarity
messages: Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.
messages: Lacks transmembrane domains and is probably not involved in transport.
messages: The sequence shown here is derived from an EMBL/GenBank/DDBJ whole genome shotgun (WGS) entry which is preliminary data.

9606:PRSS16
gene id: 9606:PRSS16
uniprot id: F2Z2N5
uniprot id: Q9NQE7
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S28 family.
messages: Cytoplasmic vesicle
messages: Expressed in fetal thymus.
messages: Expressed predominantly in cortical thymic epithelial cells.
messages: Protease that may play a role in T-cell development.

9606:PYROXD1
gene id: 9606:PYROXD1
uniprot id: Q8WU10
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: A mutation in PYROXD1 is the cause of autosomal recessive limb-girdle muscular dystrophy. The affected individual with a homozygous recessive PYROXD1 mutation showed progressive muscle weakness with an onset at the age of 9 years. Initial symptoms included excessive falling while running, with slowly progressive weakness. Difficulty navigating stairs by the age if 18, and loss of ambulation at the age of 37 years. Neurological examination showed proximal symmetrical muscle weakness and wasting, along with calf muscle pseudohypertrophy.
messages: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. PYROXD1 subfamily.
messages: Binds 1 FAD per subunit.
messages: Cytoplasm
messages: Nucleus
messages: Probable FAD-dependent oxidoreductase; involved in the cellular oxidative stress response (PubMed:27745833). Required for normal sarcomere structure and muscle fiber integrity (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: sarcomere

9606:ITM2A
gene id: 9606:ITM2A
uniprot id: O43736
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ITM2 family.
messages: Membrane

9606:SLC2A2
gene id: 9606:SLC2A2
uniprot id: P11168
uniprot id: Q6PAU8
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.
messages: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
messages: Cell membrane
messages: D-glucose and maltose competitively inhibit fructose transport (PubMed:8457197). D-glucose, D-fructose and maltose inhibit deoxyglucose transport (PubMed:8457197). Glucose and fructose transport are inhibited by flavonoids such as epigallocatechin gallate, apigenin and quercetin (PubMed:29548810).
messages: Facilitative hexose transporter that mediates the transport of glucose, fructose and galactose (PubMed:8027028, PubMed:16186102, PubMed:23396969, PubMed:28083649, PubMed:8457197). Likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell (PubMed:8027028). May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney (PubMed:3399500). Also able to mediate the transport of dehydroascorbate (PubMed:23396969).
messages: Liver, insulin-producing beta cell, small intestine and kidney.
messages: N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:DENND6B
gene id: 9606:DENND6B
uniprot id: Q8NEG7
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the DENND6 family.
messages: Cytoplasm
messages: Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35.
messages: Identified as having similarity to the core DENN family and referred to as DENN6B (PubMed:21330364). Prediction methods do not indicate a DENN domain for this sequence and, the exact role of the DENN or this DENN-like domain in GEF activity needs to be clarified.
messages: Recycling endosome

9606:COX18
gene id: 9606:COX18
uniprot id: B7ZL88
uniprot id: Q8N8Q8
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the OXA1/ALB3/YidC family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Found in a complex with TMEM177, COA6, MT-CO2/COX2, COX20, SCO1 and SCO2 (PubMed:29154948). Interacts transiently with MT-CO2/COX2 during its maturation (PubMed:28330871). Interacts with COX20 in a MT-CO2/COX2-dependent manner (PubMed:28330871).
messages: Membrane
messages: Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase).
messages: Mitochondrion inner membrane

9606:GPRIN3
gene id: 9606:GPRIN3
uniprot id: Q6ZVF9
names: Function
messages: May be involved in neurite outgrowth.

9606:TAGLN3
gene id: 9606:TAGLN3
uniprot id: Q9UI15
names: Similarity
names: Tissue Specificity
messages: Belongs to the calponin family.
messages: Widely expressed in the brain. Expression is increased in the superior frontal cortex of alcoholics, but not in the motor cortex or cerebellum.

9606:LRRC15
gene id: 9606:LRRC15
uniprot id: Q8TF66
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Brain and placenta.
messages: Membrane

9606:ABCD2
gene id: 9606:ABCD2
uniprot id: Q9UBJ2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:21145416, PubMed:29397936). Like ABCD1 seems to have fatty acyl-CoA thioesterase (ACOT) and ATPase activities, according to this model, VLCFA-CoA as free VLCFA is transpoted in an ATP-dependent manner into peroxisomes after the hydrolysis of VLCFA-CoA mediated by the ACOT activity of ABCD2 (Probable) (PubMed:29397936). Shows overlapping substrate specificities with ABCD1 toward saturated fatty acids (FA) and monounsaturated FA (MUFA) but has a distinct substrate preference for shorter VLCFA (C22:0) and polyunsaturated fatty acid (PUFA) such as C22:6-CoA and C24:6-CoA (in vitro) (PubMed:21145416). Thus, may play a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation (PubMed:21145416).
messages: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
messages: Homodimers (By similarity). Homotetramers (By similarity). The minimal functional unit is a homodimer but the major oligomeric form in peroxisomal membrane is a homotetramer (By similarity). Forms heterodimers with ABCD1 (PubMed:17609205). Forms heterodimers with ABCD3 (PubMed:10551832). In addition to tetramers, some larger molecular assemblies are also found but represented only a minor fraction (By similarity). Interacts with PEX19; facilitates ABCD2 insertion into the peroxisome membrane (PubMed:10777694, PubMed:10704444).
messages: Peroxisome membrane
messages: Predominantly expressed in brain and heart.

9606:MAPK11
gene id: 9606:MAPK11
uniprot id: Q15759
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by phosphorylation on threonine and tyrosine by MAP2K3/MKK3, MAP2K4/MKK4 and MAP2K6/MKK6. MAP2K3/MKK3 and MAP2K6/MKK6 are both essential for the activation of MAPK11 induced by environmental stress. HDAC3 interacts directly and selectively with MAPK11 to repress ATF2 transcriptional activity, and regulate TNF gene expression in LPS-stimulated cells. Inhibited by SB203580 and pyridinyl-imidazole related compounds.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily.
messages: Cytoplasm
messages: Dually phosphorylated on Thr-180 and Tyr-182 by MAP2K3/MKK3, MAP2K4/MKK4 and MAP2K6/MKK6, which activates the enzyme.
messages: Highest levels in the brain and heart. Also expressed in the placenta, lung, liver, skeletal muscle, kidney and pancreas.
messages: Interacts with HDAC3 and DUSP16.
messages: Nucleus
messages: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway (PubMed:12452429, PubMed:20626350, PubMed:35857590). MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as pro-inflammatory cytokines or physical stress leading to direct activation of transcription factors (PubMed:12452429, PubMed:20626350, PubMed:35857590). Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each (PubMed:12452429, PubMed:20626350, PubMed:35857590). MAPK11 functions are mostly redundant with those of MAPK14 (PubMed:12452429, PubMed:20626350, PubMed:35857590). Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets (PubMed:12452429, PubMed:20626350). RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1 (PubMed:9687510). RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2 (PubMed:11154262). In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR …
messages: The TXY motif contains the threonine and tyrosine residues whose phosphorylation activates the MAP kinases.

9606:SLFN12L
gene id: 9606:SLFN12L
uniprot id: Q6IEE8
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Schlafen family.
messages: Membrane

9606:GH1
gene id: 9606:GH1
uniprot id: B1A4G6
uniprot id: B1A4G7
uniprot id: P01241
names: Disease Annotation
names: Function
names: Miscellaneous
names: Pharmaceutical
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Available under the names Nutropin or Protropin (Genentech), Norditropin (Novo Nordisk), Genotropin (Pharmacia Upjohn), Humatrope (Eli Lilly) and Saizen or Serostim (Serono). Used for the treatment of growth hormone deficiency and for Turner's syndrome.
messages: Belongs to the somatotropin/prolactin family.
messages: Circulating GH shows a great heterogeneity due to alternative splicing, differential post-translational modifications of monomeric forms, oligomerization, optional binding to 2 different GH-binding proteins, and potentially proteolytic processing.
messages: Monomer, dimer, trimer, tetramer and pentamer, disulfide-linked or non-covalently associated, in homomeric and heteromeric combinations. Can also form a complex either with GHBP or with the alpha2-macroglobulin complex.
messages: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TACR1
gene id: 9606:TACR1
uniprot id: P25103
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: In contrast to Fong et al. data (PubMed:1310144), isoform 2 is not detected by PCR in any of 24 human tissues examined including the placenta (PubMed:11864635).
messages: Interacts with ARRB1.
messages: This is a receptor for the tachykinin neuropeptide substance P. It is probably associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance P > substance K > neuromedin-K.

9606:ITGBL1
gene id: 9606:ITGBL1
uniprot id: O95965
names: Domain
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Contains ten tandem EGF-like repeats strikingly similar to those found in the cysteine rich 'stalk-like' structure of integrin beta-subunits.
messages: Secreted
messages: Widely expressed in many tissues, but readily detectable only in aorta.

9606:MTX1
gene id: 9606:MTX1
uniprot id: Q13505
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the metaxin family.
messages: Interacts with MTX2/metaxin-2. Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex. Interacts with ARMC1 (PubMed:31644573).
messages: Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity).
messages: Membrane
messages: Mitochondrion outer membrane
messages: Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.

9606:SRRM1
gene id: 9606:SRRM1
uniprot id: Q8IYB3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the splicing factor SR family.
messages: Citrullinated by PADI4.
messages: Identified in the spliceosome C complex. Found in a pre-mRNA splicing complex with SFRS4, SFRS5, SNRP70, SNRPA1, SRRM1 and SRRM2. Found in a pre-mRNA exonic splicing enhancer (ESE) complex with SNRP70, SNRPA1, SRRM1 and TRA2B/SFRS10. Found in a mRNA splicing-dependent exon junction complex (EJC) with DEK, PRPF8, NCBP1, RBM8A, RNPS1, SRRM1 and ALYREF/THOC4. Interacts with DDX39B, CPSF1, RBM8A, RNPS1, and ALYREF/THOC4. Seems to be a compound of RNA export complexes that are released from speckles in a ATP-dependent manner.
messages: Nucleus matrix
messages: Nucleus speckle
messages: Part of pre- and post-splicing multiprotein mRNP complexes. Involved in numerous pre-mRNA processing events. Promotes constitutive and exonic splicing enhancer (ESE)-dependent splicing activation by bridging together sequence-specific (SR family proteins, SFRS4, SFRS5 and TRA2B/SFRS10) and basal snRNP (SNRP70 and SNRPA1) factors of the spliceosome. Stimulates mRNA 3'-end cleavage independently of the formation of an exon junction complex. Binds both pre-mRNA and spliced mRNA 20-25 nt upstream of exon-exon junctions. Binds RNA and DNA with low sequence specificity and has similar preference for either double- or single-stranded nucleic acid substrates.
messages: Phosphorylated on multiple serine and threonine residues by DYRK3 during the G2-to-M transition, after the nuclear-envelope breakdown (PubMed:29973724). Phosphorylation by DYRK3 promotes disassembly of nuclear speckles (PubMed:29973724).

9606:TNFSF15
gene id: 9606:TNFSF15
uniprot id: A0A0U5JA19
uniprot id: O95150
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the tumor necrosis factor family.
messages: Homotrimer.
messages: Membrane
messages: Receptor for TNFRSF25 and TNFRSF6B. Mediates activation of NF-kappa-B. Inhibits vascular endothelial growth and angiogenesis (in vitro). Promotes activation of caspases and apoptosis.
messages: Secreted
messages: Specifically expressed in endothelial cells. Detected in monocytes, placenta, lung, liver, kidney, skeletal muscle, pancreas, spleen, prostate, small intestine and colon.
messages: Up-regulated by IL1A/interleukin-1 alpha and TNF.

9606:CDC14B
gene id: 9606:CDC14B
uniprot id: O60729
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class CDC14 subfamily.
messages: Composed of two structurally equivalent A and B domains that adopt a dual specificity protein phosphatase (DSP) fold.
messages: Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylates SIRT2 around early anaphase. Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases.
messages: Interacts with FZR1/CDH1.
messages: nucleolus
messages: nucleoplasm

9606:HSD11B1
gene id: 9606:HSD11B1
uniprot id: P28845
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
messages: Controls the reversible conversion of biologically active glucocorticoids such as cortisone to cortisol, and 11-dehydrocorticosterone to corticosterone in the presence of NADP(H) (PubMed:10497248, PubMed:12460758, PubMed:14973125, PubMed:15152005, PubMed:15280030, PubMed:17593962, PubMed:21453287, PubMed:27927697, PubMed:30902677). Participates in the corticosteroid receptor-mediated anti-inflammatory response, as well as metabolic and homeostatic processes (PubMed:12414862, PubMed:10497248, PubMed:15152005, PubMed:21453287). Plays a role in the secretion of aqueous humor in the eye, maintaining a normotensive, intraocular environment (PubMed:11481269). Bidirectional in vitro, predominantly functions as a reductase in vivo, thereby increasing the concentration of active glucocorticoids (PubMed:12414862, PubMed:10497248, PubMed:11481269, PubMed:12460758). It has broad substrate specificity, besides glucocorticoids, it accepts other steroid and sterol substrates (PubMed:15095019, PubMed:15152005, PubMed:17593962, PubMed:21453287). Interconverts 7-oxo- and 7-hydroxy-neurosteroids such as 7-oxopregnenolone and 7beta-hydroxypregnenolone, 7-oxodehydroepiandrosterone (3beta-hydroxy-5-androstene-7,17-dione) and 7beta-hydroxydehydroepiandrosterone (3beta,7beta-dihydroxyandrost-5-en-17-one), among others (PubMed:17593962). Catalyzes the stereo-specific conversion of the major dietary oxysterol, 7-ketocholesterol (7-oxocholesterol), into the more polar 7-beta-hydroxycholesterol metabolite (PubMed:15095019, PubMed:15152005). 7-oxocholesterol is one of the most important oxysterols, it participates in several events such as induction of apoptosis, accumulation in atherosclerotic lesions, lipid peroxidation, and induction of foam cell formation (PubMed:15095019). Mediates the 7-oxo reduction of 7-oxolithocholate mainly to chenodeoxycholate, and to a lesser extent to ursodeoxycholate, both in its free form and when conjugated to glycine or taurine, providing a link between glucoco…
messages: Endoplasmic reticulum membrane
messages: Glycosylated.
messages: Hexose-6-phosphate dehydrogenase (H6PD) provides cosubstrate NADPH, and the glucose-6-phosphate transporter in the ER-membrane supplies the substrate for H6PDH, their activities stimulate the reduction of cortisone and abolish the oxidation of cortisol.
messages: Homodimer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed, highest expression in liver, lower in testis, ovary, lung, foreskin fibroblasts, and much lower in kidney (PubMed:1885595). Expressed in liver (at protein level) (PubMed:21453287). Expressed in the basal cells of the corneal epithelium and in the ciliary nonpigmented epithelium (both at mRNA and at protein level) (PubMed:11481269).

9606:PRSS22
gene id: 9606:PRSS22
uniprot id: Q9GZN4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S1 family.
messages: Expressed abundantly in the epithelial cells of the airways, including trachea, esophagus and fetal lung. Scarce in adult lung. Expressed at low levels in placenta, pancreas, prostate and thyroid gland.
messages: Preferentially cleaves the synthetic substrate H-D-Leu-Thr-Arg-pNA compared to tosyl-Gly-Pro-Arg-pNA.
messages: Secreted

9606:S100A3
gene id: 9606:S100A3
uniprot id: P33764
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the S-100 family.
messages: Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation.
messages: Cytoplasm
messages: Homodimer and homotetramer for the citrullinated form.
messages: More than half of the arginine residues undergo citrullination by PAD1 and PAD2. Arg-51 is specifically citrullinated by PAD3 and promotes tetramerization.
messages: Skin specific, specifically expressed at the inner endocuticle of hair fibers.

9606:PFN1
gene id: 9606:PFN1
uniprot id: P07737
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the profilin family.
messages: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.
messages: Expressed in epididymis (at protein level).
messages: Found in a complex with XPO6, Ran, ACTB and PFN1 (PubMed:14592989). Interacts with VASP (PubMed:17914456, PubMed:18689676). Interacts with HTT (PubMed:18573880). Interacts with SH3BGRL (PubMed:34331014). Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio (PubMed:17914456, PubMed:18689676).
messages: Phosphorylation at Ser-138 reduces its affinity for G-actin and blocks its interaction with HTT, reducing its ability to inhibit androgen receptor (AR) and HTT aggregation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton

9606:LENG8
gene id: 9606:LENG8
uniprot id: Q96PV6
names: Subunit
messages: May be part of a SEM1-containing complex.

9606:CNGA4
gene id: 9606:CNGA4
uniprot id: Q8IV77
names: Activity Regulation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA4 subfamily.
messages: Calcium-calmodulin exerts its inhibitory effect in cAMP sensitivity by binding to IQ-like motif of CNGA4 and preferably binds to the channel in the closed state. Inhibition by PIP3 of the CNG channel probably occurs via CGNA2 binding.
messages: Heterotetramer composed of two subunits of CNGA2, one of CNGA4 and one of CNGB1b. The complex forms the cyclic nucleotide-gated (CNG) channel of olfactory sensory neurons.
messages: Membrane
messages: Second messenger, cAMP, causes the opening of cation-selective cyclic nucleotide-gated (CNG) channels and depolarization of the neuron (olfactory sensory neurons, OSNs). CNGA4 is the modulatory subunit of this channel which is known to play a central role in the transduction of odorant signals and subsequent adaptation. By accelerating the calcium-mediated negative feedback in olfactory signaling it allows rapid adaptation to odor stimulation and extends its range of odor detection (By similarity).
messages: The C-terminal coiled-coil domain mediates trimerization of CNGA subunits.

9606:TMEM208
gene id: 9606:TMEM208
uniprot id: J3KRY7
uniprot id: Q9BTX3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TMEM208 family.
messages: Endoplasmic reticulum membrane
messages: May function as a negative regulator of endoplasmic reticulum-stress induced autophagy.
messages: Membrane

9606:USP35
gene id: 9606:USP35
uniprot id: Q9P2H5
names: Similarity
names: Tissue Specificity
messages: Belongs to the peptidase C19 family.
messages: Expressed in testis, pancreas and skeletal muscle.

9606:UFC1
gene id: 9606:UFC1
uniprot id: Q9Y3C8
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
messages: Belongs to the ubiquitin-conjugating enzyme family. UFC1 subfamily.
messages: E1-like enzyme which specifically catalyzes the second step in ufmylation (PubMed:15071506, PubMed:29868776). Accepts the ubiquitin-like modifier UFM1 from the E1 enzyme UBA5 and forms an intermediate with UFM1 via a thioester linkage (PubMed:15071506, PubMed:29868776). Ufmylation is involved in reticulophagy (also called ER-phagy) induced in response to endoplasmic reticulum stress (PubMed:32160526).
messages: Interacts with UBA5 (via C-terminus) (PubMed:17825256, PubMed:27653677, PubMed:29868776). Interacts with UFL1 (PubMed:20018847, PubMed:30886146). Interacts with KIRREL3 (PubMed:25902260). Interacts with UFM1 (PubMed:29868776).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ITGAV
gene id: 9606:ITGAV
uniprot id: L7RXH0
uniprot id: P06756
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.
messages: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8.
messages: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1.
messages: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus.
messages: (Microbial infection) Integrin ITGAV:ITGB3 and ITGAV:ITGB6 bind to coxsackievirus A9 and coxsackievirus B1 capsid proteins (PubMed:9426447, PubMed:15194773, PubMed:7519807).
messages: (Microbial infection) Integrin ITGAV:ITGB3 interacts with Herpes simplex 2/HHV-2 envelope glycoprotein H.
messages: (Microbial infection) Integrin ITGAV:ITGB3 interacts with Human parechovirus 1 capsid proteins.
messages: (Microbial infection) Integrin ITGAV:ITGB3 interacts with West nile virus envelope protein E.
messages: (Microbial infection) Integrin ITGAV:ITGB3 interacts with herpes virus 8/HHV-8 envelope glycoprotein B.
messages: (Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C.
messages: (Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1.
messages: (Microbial infection) Integrin ITGAV:ITGB5 interacts with adenovirus type C penton protein.
messages: (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1.
messages: (Microbial infection) Integrin ITGAV:ITGB6 interacts with herpes simplex 1/HHV-1 envelope glycoprotein H.
messages: (Microbial infection) Interacts with HIV-1 Tat.
messages: Belongs to the integrin alpha chain family.
messages: Cell membrane
messages: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-V (ITGAV) associates with either beta-1 (ITGB1), beta-3 (ITGB3), beta-5 (ITGB5), beta-6 (ITGB6) or beta-8 (ITGB8). Interacts with CIB1 (PubMed:24011356). Interacts with RAB25 (PubMed:17925226). Integrins ITGAV:ITGB3 and ITGAV:ITGB5 interact with FBLN5 (via N-terminus) (By similarity). ITGAV:ITGB3 and ITGAV:ITGB5 interact with CCN3 (PubMed:12695522). ITGAV:ITGB3 interacts with ADGRA2 (PubMed:16982628). ITGAV:ITGB3 interacts with FGF2; it is likely that FGF2 can simultaneously bind ITGAV:ITGB3 and FGF receptors (PubMed:28302677). ITGAV:ITGB3 interacts with IL1B (PubMed:29030430). ITGAV:ITGB3 is found in a ternary complex with CX3CR1 and CX3CL1 (PubMed:23125415). ITGAV:ITGB3 is found in a ternary complex with NRG1 and ERBB3 (PubMed:20682778). ITGAV:ITGB3 is found in a ternary complex with FGF1 and FGFR1 (PubMed:18441324). ITGAV:ITGB3 is found in a ternary complex with IGF1 and IGF1R (PubMed:19578119). ITGAV:ITGB3 interacts with IGF2 (PubMed:28873464). ITGAV:ITGB3 and ITGAV:ITGB6 interact with FBN1 (PubMed:12807887, PubMed:17158881). ITGAV:ITGB3 interacts with CD9, CD81 and CD151 (via second extracellular domain) (PubMed:27993971). ITGAV:ITGB6 interacts with TGFB1 (PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 interacts with PTN (PubMed:19141530). Forms a complex with PTPRZ1 and PTN that stimulates endothelial cell migration through ITGB3 'Tyr-773' phosphorylation (PubMed:19141530).
messages: Membrane
messages: The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as receptors for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 acts as a receptor for CD40LG (PubMed:31331973).
messages: focal adhesion

9606:YTHDF1
gene id: 9606:YTHDF1
uniprot id: Q9BYJ9
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the YTHDF family. YTHDF1 subfamily.
messages: Cytoplasm
messages: Interacts with CNOT1; promoting recruitment of the CCR4-NOT complex (PubMed:32492408). Interacts with ribosomes (PubMed:26046440). Interacts with eIF3 (EIF3A or EIF3B) (PubMed:26046440). Interacts with YTHDF3 (PubMed:28106072).
messages: P-body
messages: Specifically recognizes and binds N6-methyladenosine (m6A)-containing mRNAs, and regulates their stability (PubMed:24284625, PubMed:32492408, PubMed:26318451). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing (PubMed:24284625, PubMed:32492408). Acts as a regulator of mRNA stability by promoting degradation of m6A-containing mRNAs via interaction with the CCR4-NOT complex (PubMed:32492408). The YTHDF paralogs (YTHDF1, YTHDF2 and YTHDF3) shares m6A-containing mRNAs targets and act redundantly to mediate mRNA degradation and cellular differentiation (PubMed:28106072, PubMed:32492408). Required to facilitate learning and memory formation in the hippocampus by binding to m6A-containing neuronal mRNAs (By similarity). Acts as a regulator of axon guidance by binding to m6A-containing ROBO3 transcripts (By similarity). Acts as a negative regulator of antigen cross-presentation in myeloid dendritic cells (By similarity). In the context of tumorigenesis, negative regulation of antigen cross-presentation limits the anti-tumor response by reducing efficiency of tumor-antigen cross-presentation (By similarity). Promotes formation of phase-separated membraneless compartments, such as P-bodies or stress granules, by undergoing liquid-liquid phase separation upon binding to mRNAs containing multiple m6A-modified residues: polymethylated mRNAs act as a multivalent scaffold for the binding of YTHDF proteins, juxtaposing their disordered regions and thereby leading to phase separation (PubMed:31388144, PubMed:31292544, PubMed:32451507). The resulting mRNA-YTHDF complexes then partition into different endogenous phase-separated membraneless compartments, such as P-bodies, stress granules or neuronal RNA granules (PubMed:31292544).
messages: Stress granule
messages: The disordered regions have the ability to interact with each other and to 'phase separate' into liquid droplets within the cytosol following binding to mRNAs containing multiple m6A-modified residues (PubMed:31292544). This leads to the partition of m6A-containing mRNAs into membraneless compartments, where mRNAs may be stored, degraded or used to transport mRNAs to dendritic arbors in neurons (PubMed:31292544).
messages: Was initially reported to act as a regulator of mRNA translation efficiency by promoting ribosome loading to m6A-containing mRNAs and by interacting with translation initiation factors eIF3 (EIF3A or EIF3B), thereby facilitating translation initiation (PubMed:26046440, PubMed:26593424). These studies suggested that the 3 different paralogs (YTHDF1, YTHDF2 and YTHDF3) have unique functions with limited redundancy (PubMed:26046440, PubMed:26593424). However, later studies showed that YTHDF1, YTHDF2 and YTHDF3 paralogs have redundant functions to a profound extent and directly promote degradation of m6A-containing mRNAs (PubMed:32492408). The effect on translation efficiency observed earlier is probably indirect (PubMed:32492408).

9606:RPL6
gene id: 9606:RPL6
uniprot id: A0A024RBK3
uniprot id: Q02878
uniprot id: Q8TBK5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Specifically binds to domain C of the Tax-responsive enhancer element in the long terminal repeat of HTLV-I (PubMed:8457378).
messages: Belongs to the eukaryotic ribosomal protein eL6 family.
messages: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680, PubMed:32669547). May bind IPO9 with low affinity (By similarity).
messages: Component of the large ribosomal subunit (PubMed:12962325, PubMed:25957688, PubMed:25901680, PubMed:32669547, PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:25957688, PubMed:25901680, PubMed:32669547, PubMed:23636399).
messages: Cytoplasm
messages: Rough endoplasmic reticulum
messages: cytosol

9606:DNAAF6
gene id: 9606:DNAAF6
uniprot id: Q9NQM4
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PIH1 family.
messages: Cytoplasm
messages: Expressed in testis, small intestine, prostate, adrenal gland, spleen, lung, bladder, breast and ovary. Expressed in ciliated epithelial cells (PubMed:28176794).
messages: Interacts with HSPA1A/B and HSP90AA1 (By similarity). Interacts with DNAAF2 and DNAAF4 (PubMed:28041644). Interacts wuth DNAI2 (PubMed:28176794).
messages: Plays a role in cytoplasmic pre-assembly of axonemal dynein.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: trans-Golgi network

9606:SDHC
gene id: 9606:SDHC
uniprot id: A0A0S2Z4B7
uniprot id: A0A0S2Z4C9
uniprot id: Q99643
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cytochrome b560 family.
messages: Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD.
messages: Membrane
messages: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The heme b is bound between the two transmembrane subunits SDHC and SDHD.
messages: The heme is bound between the two transmembrane subunits.

9606:DMAC2L
gene id: 9606:DMAC2L
uniprot id: A0A5F9ZGZ2
uniprot id: A0A5K1VW60
uniprot id: Q99766
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ATP synthase subunit s family.
messages: Homotetramer. Associates with ATP synthase.
messages: Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway.
messages: It is uncertain whether Met-1 or Met-16 is the initiator.
messages: Membrane
messages: Mitochondrion
messages: Mitochondrion inner membrane

9606:CST5
gene id: 9606:CST5
uniprot id: P28325
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cystatin family.
messages: Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B.
messages: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in parotid gland but not in seminal vesicle, prostate, epididymis, testis, ovary, placenta, thyroid, gastric corpus, small intestine, liver, or gall bladder tissue.
messages: Monomer.
messages: Secreted
messages: The truncated forms found may result from N-terminal proteolysis.

9606:MOB1B
gene id: 9606:MOB1B
uniprot id: B3KSH6
uniprot id: Q7L9L4
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38L.
messages: Adrenal gland, bone marrow, brain, lung, placenta, prostate, salivary gland, skeletal muscle, testis, thymus, thyroid gland, uterus, colon with mucosa, fetal brain and fetal liver.
messages: Belongs to the MOB1/phocein family.
messages: Binds STK38L. Interacts with LATS1 and LATS2.
messages: Cytoplasm
messages: Nucleus
messages: Phosphorylated by STK3/MST2 and STK4/MST1 and this phosphorylation enhances its binding to LATS1.

9606:GNAI3
gene id: 9606:GNAI3
uniprot id: P08754
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Deamidated at Gln-204 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.
messages: Belongs to the G-alpha family. G(i/o/t/z) subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha subunit contains the guanine nucleotide binding site. GTP binding causes dissociation of the heterotrimer, liberating the individual subunits so that they can interact with downstream effector proteins. Forms a complex with CCDC88A/GIV and EGFR which leads to enhanced EGFR signaling and triggering of cell migration; ligand stimulation is required for recruitment of GNAI3 to the complex (PubMed:20462955). Interacts (inactive GDP-bound form) with CCDC88A/GIV (via GBA motif); the interaction leads to activation of GNAI3 (PubMed:19211784, PubMed:20462955). Interacts (inactive GDP-bound form) with CCDC88C/DAPLE (via GBA motif); the interaction leads to activation of GNAI3 (PubMed:26126266). Interacts (inactive GDP-bound form) with NUCB1 (via GBA motif) and NUCB2 (via GBA motif); the interaction leads to activation of GNAI3 (By similarity). Interacts (inactive GDP-bound form) with PLCD4 (via GBA motif); the interaction leads to activation of GNAI3 (PubMed:30194280). Interacts with INSR; the interaction is probably mediated by CCDC88A/GIV (PubMed:25187647). Interacts with GPSM1 (By similarity). Interacts (GDP-bound form) with GPSM2 (via GoLoco domains) (PubMed:22952234). Does not interact with RGS2 (PubMed:19478087). Interacts with RGS8 and RGS10; this strongly enhances the intrinsic GTPase activity (PubMed:8774883, PubMed:18434541). Interacts with RGS16; this strongly enhances the intrinsic GTPase activity (PubMed:19478087). Interacts with RGS12 (By similarity). Interacts (via active GTP- or inactive GDP-bound form) with RGS14 (By similarity).
messages: Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome

9606:ALKBH6
gene id: 9606:ALKBH6
uniprot id: Q3KRA9
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the alkB family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Cytoplasm
messages: Interacts with VCPKMT.
messages: Nucleus
messages: Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron.
messages: Widely expressed, with highest expression in testis and pancreas.

9606:MBP
gene id: 9606:MBP
uniprot id: A0A024R384
uniprot id: P02686
names: Developmental Stage
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Arg-241 was found to be 6% monomethylated and 60% symmetrically dimethylated.
messages: Belongs to the myelin basic protein family.
messages: Contains a non-traditional PY nuclear localization signal. Mutagenesis of Cys-81 to Ser prevents dimerization.
messages: Contaminating sequence. The C-terminus contains a Histidine tag.
messages: Expression begins abruptly in 14-16 week old fetuses. Even smaller isoforms seem to be produced during embryogenesis; some of these persisting in the adult. Isoform 4 expression is more evident at 16 weeks and its relative proportion declines thereafter.
messages: Homodimer. Isoform 3 exists as a homodimer.
messages: MBP isoforms are found in both the central and the peripheral nervous system, whereas Golli-MBP isoforms are expressed in fetal thymus, spleen and spinal cord, as well as in cell lines derived from the immune system.
messages: Myelin membrane
messages: Nucleus
messages: Phosphorylated by TAOK2, VRK2, MAPK11, MAPK12, MAPK14 and MINK1.
messages: Proteolytically cleaved in B cell lysosomes by cathepsin CTSG which degrades the major immunogenic MBP epitope and prevents the activation of MBP-specific autoreactive T cells.
messages: Several charge isomers of MBP; C1 (the most cationic, least modified, and most abundant form), C2, C3, C4, C5, C6, C7, C8-A and C8-B (the least cationic form); are produced as a result of optional PTM, such as phosphorylation, deamidation of glutamine or asparagine, arginine citrullination and methylation. C8-A and C8-B contain each two mass isoforms termed C8-A(H), C8-A(L), C8-B(H) and C8-B(L), (H) standing for higher and (L) for lower molecular weight. C3, C4 and C5 are phosphorylated. The ratio of methylated arginine residues decreases during aging, making the protein more cationic.
messages: The N-terminal alanine is acetylated (isoform 3, isoform 4, isoform 5 and isoform 6).
messages: The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation.
messages: The reduction in the surface charge of citrullinated and/or methylated MBP could result in a weakened attachment to the myelin membrane. This mechanism could be operative in demyelinating diseases such as chronical multiple sclerosis (MS), and fulminating MS (Marburg disease).
messages: wrong intron-exon boundaries.

9606:SYCE3
gene id: 9606:SYCE3
uniprot id: A1L190
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Chromosome
messages: Homodimer. Interacts with SYCE1. Interacts with SYCE2. Interacts with proteasome subunit PSMA8; to participate in meiosis progression during spermatogenesis (By similarity). Interacts with SPO16 (By similarity).
messages: Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for chromosome loading of the central element-specific SCS proteins, and for initiating synapsis between homologous chromosomes. Chromosome loading appears to require SYCP1. Required for fertility.
messages: Nucleus

9606:ZNF274
gene id: 9606:ZNF274
uniprot id: A0A0A0MR47
uniprot id: Q96GC6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Cytoplasm
messages: Interacts with SETDB1 and TRIM28/KAP1. Interacts with ATRX. Forms a complex with ATRX, SETDB1 and TRIM28 (PubMed:27029610).
messages: Nucleus
messages: Probable transcription repressor. Specifically binds to the 3'-end of zinc-finger coding genes and recruiting chromatin-modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610).
messages: nucleolus

9606:SYNGR2
gene id: 9606:SYNGR2
uniprot id: A0A024R8T9
uniprot id: O43760
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with SFTS phlebovirus protein NSs; may be involved in virus replication.
messages: (Microbial infection) May play a role in the assembly of cytoplasmic inclusion bodies required for SFTS phlebovirus replication.
messages: (Microbial infection) Up-regulated upon SFTS phlebovirus infection (at protein level).
messages: Belongs to the synaptogyrin family.
messages: Cytoplasmic vesicle membrane
messages: Lipid droplet
messages: May be tyrosine phosphorylated by Src.
messages: May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane.
messages: Membrane
messages: Ubiquitous; low expression in brain.
messages: synaptic vesicle membrane

9606:JMJD4
gene id: 9606:JMJD4
uniprot id: Q9H9V9
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Catalyzes the 2-oxoglutarate and iron-dependent C4-lysyl hydroxylation of ETF1 at 'Lys-63' thereby promoting the translational termination efficiency of ETF1.
messages: Cytoplasm
messages: Interacts with ETF1 (PubMed:24486019). Interacts with the ETF1-GSPT1 complex (PubMed:24486019).
messages: It is uncertain whether Met-1 or Met-47 is the initiator.

9606:COL9A3
gene id: 9606:COL9A3
uniprot id: Q14050
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
messages: Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to intervertebral disk disease is conferred by variant p.Arg103Trp (PubMed:11308397).
messages: Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain.
messages: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
messages: Structural component of hyaline cartilage and vitreous of the eye.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular matrix

9606:PRSS21
gene id: 9606:PRSS21
uniprot id: Q9Y6M0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S1 family.
messages: Cell membrane
messages: Could regulate proteolytic events associated with testicular germ cell maturation.
messages: Expressed predominantly in premeiotic testicular germ cells, mostly late pachytene and diplotene spermatocytes.

9606:KLHL11
gene id: 9606:KLHL11
uniprot id: Q9NVR0
names: Function
names: Subunit
messages: Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (By similarity). Homodimer. Interacts with CUL3.
messages: Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation.

9606:ZBTB14
gene id: 9606:ZBTB14
uniprot id: O43829
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Interacts with ZBTB21.
messages: Nucleus
messages: The BTB/POZ domain seems to direct the protein to discrete regions in the nucleus.
messages: Transcriptional activator of the dopamine transporter (DAT), binding it's promoter at the consensus sequence 5'-CCTGCACAGTTCACGGA-3'. Binds to 5'-d(GCC)(n)-3' trinucleotide repeats in promoter regions and acts as a repressor of the FMR1 gene. Transcriptional repressor of MYC and thymidine kinase promoters.

9606:TPRG1L
gene id: 9606:TPRG1L
uniprot id: Q5T0D9
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TPRG1 family.
messages: Forms homomultimers. Multimerization appears to be important for presynaptic targeting. Interacts with BSN.
messages: Phosphorylated. Phosphorylation promotes association with synaptic vesicle membranes.
messages: Presynaptic active zone
messages: Presynaptic protein involved in the synaptic transmission tuning. Regulates synaptic release probability by decreasing the calcium sensitivity of release.
messages: synaptic vesicle membrane

9606:GLT8D2
gene id: 9606:GLT8D2
uniprot id: Q9H1C3
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glycosyltransferase 8 family.
messages: Membrane

9606:EEF2
gene id: 9606:EEF2
uniprot id: A0A384N6H1
uniprot id: P13639
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Diphthamide can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A, thus arresting protein synthesis.
messages: Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
messages: Catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome.
messages: Component of the mRNA surveillance SURF complex, at least composed of ERF1, ERF3 (ERF3A or ERF3B), EEF2, UPF1/RENT1, SMG1, SMG8 and SMG9 (PubMed:19417104). Interacts with RBPMS2 (PubMed:25064856).
messages: Cytoplasm
messages: Diphthamide is 2-[3-carboxyamido-3-(trimethyl-ammonio)propyl]histidine (By similarity).
messages: ISGylated.
messages: Nucleus
messages: Phosphorylation by EF-2 kinase completely inactivates EF-2; it requires prior phosphorylation by CDK2 at Ser-595 during mitotic prometaphase. Phosphorylation by CSK promotes SUMOylation, proteolytic cleavage, and nuclear translocation if the C-terminal fragment.
messages: Proteolytically processed at two sites following phosphorylation by CSK.
messages: SUMOylated following phosphorylation by CSK, promotes proteolytic cleavage.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:OR52E4
gene id: 9606:OR52E4
uniprot id: Q8NGH9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:CCL5
gene id: 9606:CCL5
uniprot id: A0A494C1Q1
uniprot id: D0EI67
uniprot id: P13501
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the intercrine beta (chemokine CC) family.
messages: By mitogens.
messages: Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).
messages: Expressed in the follicular fluid (at protein level). T-cell and macrophage specific.
messages: Homo and heterooligomers with other chemokines. Interacts with the brown dog tick evasin-4.
messages: N-terminal processed form RANTES(3-68) is produced by proteolytic cleavage, probably by DPP4, after secretion from peripheral blood leukocytes and cultured sarcoma cells.
messages: N-terminal processed form RANTES(4-68) is produced by proteolytic cleavage by cathepsin CTSG.
messages: Secreted
messages: The identity of the O-linked saccharides at Ser-27 and Ser-28 are not reported in PubMed:1380064. They are assigned by similarity.

9606:ZNF543
gene id: 9606:ZNF543
uniprot id: Q08ER8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:ZMAT4
gene id: 9606:ZMAT4
uniprot id: Q9H898
names: Subcellular Location Annotation
messages: Nucleus

9606:MED28
gene id: 9606:MED28
uniprot id: Q9H204
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Mediator complex subunit 28 family.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex containing NF2/merlin that participates in cellular signaling to the actin cytoskeleton downstream of tyrosine kinase signaling pathways.
messages: Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Forms a ternary complex with NF2/merlin and GRB2. Binds to actin.
messages: Cytoplasm
messages: Membrane
messages: Nucleus
messages: Up-regulated by endothelial cells when exposed to tumor conditional media.
messages: Widely expressed. Highly expressed in vascular tissues such as placenta, testis and liver.

9606:FPGS
gene id: 9606:FPGS
uniprot id: Q05932
names: Activity Regulation
names: Cofactor
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A monovalent cation. K(+) is most effective, followed by NH4(+) and Rb(+). Na(+), Li(+) and Cs(+) are ineffective.
messages: Activated by 10 mM sodium bicarbonate.
messages: Belongs to the folylpolyglutamate synthase family.
messages: Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.
messages: Cytoplasm
messages: Mitochondrion inner membrane
messages: Mitochondrion matrix
messages: Monomer.
messages: Produced by alternative initiation at Met-43 of isoform 1.
messages: Produced by alternative splicing of isoform 1.

9606:ABCE1
gene id: 9606:ABCE1
uniprot id: P61221
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HIV-1 proteins Vif and Gag.
messages: (Microbial infection) Interacts with HIV-2 protein Gag.
messages: (Microbial infection) May act as a chaperone for post-translational events during HIV-1 capsid assembly.
messages: (Microbial infection) Plays a role in the down-regulation of the 2-5A/RNASEL pathway during encephalomyocarditis virus (EMCV) and HIV-1 infections.
messages: Activated by encephalomyocarditis virus (EMCV) and HIV-1.
messages: Belongs to the ABC transporter superfamily. ABCE family.
messages: Cotranslational quality control factor involved in the No-Go Decay (NGD) pathway (PubMed:21448132). Together with PELO and HBS1L, is required for 48S complex formation from 80S ribosomes and dissociation of vacant 80S ribosomes (PubMed:21448132). Together with PELO and HBS1L, recognizes stalled ribosomes and promotes dissociation of elongation complexes assembled on non-stop mRNAs; this triggers endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and to degrade damaged mRNAs as part of the No-Go Decay (NGD) pathway (PubMed:21448132). Plays a role in the regulation of mRNA turnover (By similarity). Plays a role in quality control of translation of mitochondrial outer membrane-localized mRNA (PubMed:29861391). As part of the PINK1-regulated signaling, ubiquitinated by CNOT4 upon mitochondria damage; this modification generates polyubiquitin signals that recruit autophagy receptors to the mitochondrial outer membrane and initiate mitophagy (PubMed:29861391). RNASEL-specific protein inhibitor which antagonizes the binding of 2-5A (5'-phosphorylated 2',5'-linked oligoadenylates) to RNASEL (PubMed:9660177). Negative regulator of the anti-viral effect of the interferon-regulated 2-5A/RNASEL pathway (PubMed:9660177, PubMed:9847332, PubMed:11585831).
messages: Cytoplasm
messages: Interacts with PINK1, CNOT4 and PELO (PubMed:29861391). Probably heterodimerizes with RNASEL; this interaction inhibits RNASEL (Probable).
messages: Mitochondrion
messages: The ABC transporter domains seem not to be functional.
messages: Ubiquitinated by CNOT4 (PubMed:29861391). Ubiquitination mediates the recruitment of autophagy receptors to the mitochondrial outer membrane and initiates mitophagy (PubMed:29861391).

9606:NTS
gene id: 9606:NTS
uniprot id: P30990
uniprot id: Q6FH20
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the neurotensin family.
messages: Interacts with NTSR1 (PubMed:23140271). Interacts with SORT1 (PubMed:19122660). Interacts with SORL1 (PubMed:11294867).
messages: Neurotensin is cleaved and degraded by Angiotensin-converting enzyme (ACE) and neprilysin (MME).
messages: Neurotensin may play an endocrine or paracrine role in the regulation of fat metabolism. It causes contraction of smooth muscle.
messages: Secreted
messages: Vesicle
messages: secretory vesicle

9606:TP53AIP1
gene id: 9606:TP53AIP1
uniprot id: Q9HCN2
names: Function
names: Induction
names: Miscellaneous
names: Subcellular Location Annotation
names: Tissue Specificity
messages: By p53/TP53.
messages: Dubious isoform. Could be a cloning artifact.
messages: May play an important role in mediating p53/TP53-dependent apoptosis.
messages: Mitochondrion
messages: Only found to be expressed in thymus.

9606:RAPGEFL1
gene id: 9606:RAPGEFL1
uniprot id: Q9UHV5
names: Function
messages: Probable guanine nucleotide exchange factor (GEF).

9606:SMURF2
gene id: 9606:SMURF2
uniprot id: Q9HAU4
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) In case of filoviruses Ebola/EBOV and Marburg/MARV infection, the complex formed by viral matrix protein VP40 and SMURF2 facilitates virus budding.
messages: (Microbial infection) Interacts (via WW domains) with EBOV and MARV VP40 (via PPXY motif); the interaction facilitates VP40 virus-like particle budding.
messages: (Microbial infection) The WW domains mediate binding with matrix protein VP40.
messages: Activated by NDFIP1- and NDFIP2-binding.
messages: Auto-ubiquitinated and ubiquitinated in the presence of RNF11 and UBE2D1 (PubMed:19343052, PubMed:30696809). Ubiquitinated by the SCF(FBXL15) complex and TTC3, leading to its degradation by the proteasome (PubMed:21572392, PubMed:30696809). 'Lys-48'-linked polyubiquitination mediated by TRAF4 at Lys-119 leads to SMURF2 proteasomal degradation (PubMed:31076633).
messages: Cell membrane
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:11016919). Interacts with SMAD7 to trigger SMAD7-mediated transforming growth factor beta/TGF-beta receptor ubiquitin-dependent degradation, thereby down-regulating TGF-beta signaling (PubMed:11163210, PubMed:12717440). In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with AIMP1 (PubMed:18448069). Also forms a stable complex with TGF-beta receptor-mediated phosphorylated SMAD1, SMAD2 and SMAD3, and targets SMAD1 and SMAD2 for ubiquitination and proteasome-mediated degradation (PubMed:11016919, PubMed:11158580, PubMed:11389444). SMAD2 may recruit substrates, such as SNON, for ubiquitin-dependent degradation (PubMed:11389444). Negatively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation (PubMed:30696809).
messages: Interacts (via WW domains) with SMAD1 (PubMed:11158580). Interacts (via WW domains) with SMAD2 (via PY-motif) (PubMed:11158580, PubMed:11389444). Interacts (via WW domains) with SMAD3 (via PY-motif) (PubMed:11158580, PubMed:11389444). Interacts with SMAD6 (PubMed:11158580). Interacts with SMAD7 (via PY-motif) and TGFBR1; SMAD7 recruits SMURF2 to the TGF-beta receptor and regulates its degradation (PubMed:11163210, PubMed:11158580, PubMed:33673144, PubMed:16061177, PubMed:16641086). Does not interact with SMAD4; SMAD4 lacks a PY-motif (PubMed:11158580). Interacts with AIMP1 (PubMed:18448069). Interacts with SNON (PubMed:11389444). Interacts with STAMBP and RNF11 (PubMed:14562029, PubMed:14755250). May interact with NDFIP1 and NDFIP2; this interaction induces the E3 ubiquitin-protein ligase activity. Interacts with TTC3 (Probable).
messages: Membrane raft
messages: Nucleus
messages: The C2 domain is involved in autoinhibition of the catalytic activity by interacting with the HECT domain.
messages: The second and third WW domains are responsible for interaction with the PY-motif of R-SMAD (SMAD1, SMAD2 and SMAD3).
messages: Widely expressed.

9606:ZBTB22
gene id: 9606:ZBTB22
uniprot id: O15209
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:HEPACAM
gene id: 9606:HEPACAM
uniprot id: Q14CZ8
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Down-regulated in 20 out of 23 of hepatocellular carcinoma (HCC) samples and is undetectable in 5 HCC cell lines tested.
messages: Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a complex containing MLC1, TRPV4, AQP4 and ATP1B1.
messages: Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.
messages: Membrane
messages: N-glycosylated.
messages: The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:HECTD2
gene id: 9606:HECTD2
uniprot id: Q5U5R9
names: Function
messages: (Microbial infection) Catalyzes ubiquitination of Botulinum neurotoxin A light chain (LC) of C.botulinum neurotoxin type A (BoNT/A).
messages: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

9606:CCNG2
gene id: 9606:CCNG2
uniprot id: A0A024RDC7
uniprot id: Q16589
names: Developmental Stage
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activated by actinomycin-D induced DNA damage.
messages: Belongs to the cyclin family.
messages: Belongs to the cyclin family. Cyclin G subfamily.
messages: Cytoplasm
messages: Expression levels increase through the cell cycle to peak in the mid/late-S phase and decrease during G2/M phase.
messages: High levels in cerebellum, thymus, spleen and prostate. Low levels in skeletal muscle.
messages: May play a role in growth regulation and in negative regulation of cell cycle progression.

9606:RGS18
gene id: 9606:RGS18
uniprot id: Q9NS28
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in peripheral leukocytes, bone marrow, platelet, spleen and fetal liver.
messages: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i) alpha-1, G(i) alpha-2, G(i) alpha-3 and G(q) alpha.

9606:SYTL1
gene id: 9606:SYTL1
uniprot id: Q8IYJ3
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Highly expressed in bone marrow and lymphoid tissues. Detected at lower levels in cerebellum, occipital lobe, prostate, stomach, kidney, appendix, lung and trachea. Expressed in cytotoxic T-lymphocytes (CTL).
messages: May play a role in vesicle trafficking (By similarity). Binds phosphatidylinositol 3,4,5-trisphosphate. Acts as a RAB27A effector protein and may play a role in cytotoxic granule exocytosis in lymphocytes (By similarity).
messages: Monomer. Binds NRXN1. Binds RAB27A that has been activated by GTP-binding via its N-terminus (By similarity). Binds NCF2.

9606:DUS1L
gene id: 9606:DUS1L
uniprot id: Q6P1R4
names: Function
names: Similarity
messages: Belongs to the Dus family. Dus1 subfamily.
messages: Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs.

9606:PAQR4
gene id: 9606:PAQR4
uniprot id: I3L1A2
uniprot id: I3L265
uniprot id: Q8N4S7
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ADIPOR family.
messages: Membrane
messages: Relatively widely expressed in a range of tissues.

9606:TRIM29
gene id: 9606:TRIM29
uniprot id: Q14134
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Constitutively phosphorylated by PKC on serine/threonine in A431 cells.
messages: Cytoplasm
messages: Expressed in placenta, prostate and thymus.
messages: Interacts with VIM and HINT1 (PubMed:7644499). Interacts with IKBKG/NEMO (PubMed:27695001). Interacts with STING1 (PubMed:29038422).
messages: Lysosome
messages: Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract. Mechanistically, TRIM29 interacts with IKBKG/NEMO in the lysosome where it induces its 'Lys-48' ubiquitination and subsequent degradation. In turn, the expression of type I interferons and the production of pro-inflammatory cytokines are inhibited. Additionally, induces the 'Lys-48' ubiquitination of STING1 in a similar way, leading to its degradation.

9606:SLC6A6
gene id: 9606:SLC6A6
uniprot id: A0A087WY96
uniprot id: B4E140
uniprot id: P31641
uniprot id: Q59GD7
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A6 subfamily.
messages: Cell membrane
messages: Expressed abundantly in placenta and skeletal muscle, at intermediate levels in heart, brain, lung, kidney and pancreas and at low levels in liver.
messages: Mediates sodium- and chloride-dependent transport of taurine (PubMed:8382624, PubMed:8010975, PubMed:8654117, PubMed:31345061, PubMed:31903486). Mediates transport of beta-alanine (PubMed:8010975). Can also mediate transport of hypotaurine and gamma-aminobutyric acid (GABA) (By similarity).
messages: Membrane
messages: Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake.
messages: Taurine transport activity is down-regulated upon Ser-322 phosphorylation.
messages: Taurine transport activity is stimulated by thyrotropin (PubMed:8382624). Taurine transport activity is inhibited by GABA, hypotaurine and beta-alanine (PubMed:8010975, PubMed:8654117).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TSGA13
gene id: 9606:TSGA13
uniprot id: Q96PP4
names: Tissue Specificity
messages: Testis-specific.

9606:AHRR
gene id: 9606:AHRR
uniprot id: A9YTQ3
names: Function
names: Induction
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By 3-methylcholanthrene (3-MC) in MNCs from adults. By the heterodimer AHR/ARNT.
messages: Cytoplasm
messages: Highly expressed in testis, lung, ovary, spleen and pancreas. Highly expressed in mononuclear cells (MNCs) from umbilical cord blood. Isoform 3 is highly expressed in lung, kidney, spleen and thymus. Down-regulated malignant tissue from different anatomical origins, including colon, breast, lung, stomach, cervix, and ovary.
messages: Interacts with ANKRA2, HDAC4 and HDAC5. Interacts with ARNT; forms a heterodimer with ARNT (PubMed:28904176).
messages: Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site.
messages: Nucleus
messages: The Ala-189 allele may be a susceptibility factor for dioxin-related male infertility. Homozygosity for Ala-189 is observed in azoospermic individuals at higher frequency than in normozoospermic individuals (PubMed:15474075, PubMed:17559847). Might also be associated with susceptibility to and severity of endometriosis.

9606:MRPL58
gene id: 9606:MRPL58
uniprot id: Q14197
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the prokaryotic/mitochondrial release factor family. Mitochondrion-specific ribosomal protein mL62 subfamily.
messages: Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503, PubMed:20186120). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
messages: Down-regulated during the in vitro differentiation of HT29-D4 colon carcinoma cells.
messages: Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes.
messages: In contrast to other members of the family, lacks the regions that come into close contact with the mRNA in the ribosomal A-site and determine the STOP codon specificity, explaining the loss of codon specificity for translation release factor activity.
messages: Mitochondrion

9606:FXYD6-FXYD2
gene id: 9606:FXYD6-FXYD2
uniprot id: A0A087WZ82
uniprot id: A0A0A6YYL5
names: Caution
names: Similarity
messages: Belongs to the FXYD family.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.

9606:CILK1
gene id: 9606:CILK1
uniprot id: Q9UPZ9
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
messages: Cytoplasm
messages: Expressed in heart, brain, placenta, pancreas, thymus, prostate, testis, ovary, small intestine and colon, with highest levels in placenta and testis. Not detected in spleen. Also expressed in many cancer cell lines.
messages: Nucleus
messages: Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium
messages: cilium basal body
messages: cytosol

9606:TWNK
gene id: 9606:TWNK
uniprot id: Q96RR1
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.
messages: Homohexamer (via C-terminus) which assembled in a ring-like structure (PubMed:18039713, PubMed:17324440, PubMed:22383523, PubMed:25824949, PubMed:30496414, PubMed:18971204). Homoheptamer which assembled in a ring-like structure (PubMed:25824949, PubMed:30496414). Oligomerization is Mg(2+), nucleotide and DNA-independent, however, Mg(2+) and nucleotide stabilize the homohexameric form (PubMed:18039713). Interacts with POLG in vitro (PubMed:15167897).
messages: In vitro, can catalyze the hydrolysis of different nucleotide triphosphate (NTP) substrates with different efficiency.
messages: Interacts with LONP1.
messages: Lack DNA unwinding and ATP hydrolysis activities (PubMed:18039713). Does not bind single-stranded or double-stranded DNA (PubMed:18039713).
messages: Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA repair (PubMed:27226550). Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand (PubMed:27226550). In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities (PubMed:22383523, PubMed:26887820, PubMed:27226550).
messages: Monomer (PubMed:18039713). Does not form oligomers (PubMed:18039713).
messages: N-terminus enhances protein stability and hexamer formation, which is important for DNA binding, and is required for DNA helicase activity and, ultimately, for mtDNA replisome processivity.
messages: Strand annealing activity is inhibited by 150 mM NaCl (in vitro).
messages: The N-terminus contains a putative primase-like domain; however the absence of the zinc binding domain and other motifs important for catalysis suggests that TWNK lacks primase activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: mitochondrion nucleoid

9606:ZBED9
gene id: 9606:ZBED9
uniprot id: A0A1U9X8W9
uniprot id: Q6R2W3
names: Miscellaneous
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Highly expressed in non-small-cell lung carcinoma (NSCLC) tissue, with increased expression correlating with advanced disease, lymph node metastases and poor prognosis, as such may be a candidate prognostic marker (PubMed:28418919). May act as an oncogene and promote tumor growth via positive regulation of cell cycle progression at G1/S phase transition (PubMed:28418919). May promote invasion and metastasis via activation of the AKT/GSK-3 beta signaling pathway (PubMed:28418919). Expressed in the cytoplasm in NSCLC tissue (PubMed:28418919).
messages: Nucleus
messages: Weakly expressed in the lung (at protein level).

9606:ALX3
gene id: 9606:ALX3
uniprot id: O95076
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the paired homeobox family.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional regulator with a possible role in patterning of mesoderm during development.

9606:TRIM28
gene id: 9606:TRIM28
uniprot id: Q13263
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with herpes virus 8 protein LANA1; this interaction facilitates establishment of viral latency.
messages: (Microbial infection) Plays a critical role in the shutdown of lytic gene expression during the early stage of herpes virus 8 primary infection. This inhibition is mediated through interaction with herpes virus 8 protein LANA1.
messages: ADP-ribosylated by SIRT6, promoting TRIM28/KAP1 interaction with CBX5, thereby contributing to the packaging of LINE-1 retrotransposon elements into transcriptionally repressive heterochromatin.
messages: ATM-induced phosphorylation on Ser-824 represses sumoylation leading to the de-repression of expression of a subset of genes involved in cell cycle control and apoptosis in response to genotoxic stress. Dephosphorylation by the phosphatases, PPP1CA and PP1CB forms, allows sumoylation and expression of TRIM28 target genes.
messages: Auto-ubiquitinated; enhanced by MAGEA2 and MAGEC2.
messages: Belongs to the TRIM/RBCC family.
messages: Citrullinated by PADI4.
messages: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
messages: Expressed in all tissues tested including spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.
messages: Interacts with SETX (PubMed:23149945). Oligomer; the RBCC domain homotrimerizes and interacts with one molecule of KRAB to form the KRAB-KAP1 corepressor complex. Binding to a KRAB domain is an absolute requirement for silencing gene expression. Interacts with CEBPB and NR3C1. Interacts with a number of KRAB-ZFP proteins including ZNF10, ZFP53, ZFP68, ZNF382 and ZNF256. Interacts with NCOR1, NR3C1 and CHD3. Interacts with CEBPB (via the RING-type and PHD-type zinc fingers). Component of a ternary complex that includes TRIM28, a HP1 protein (CBX1, CBX3 OR CBX5), a KRAB domain-containing protein, and DNA. Interacts with CBX5 (via the PxVxL motif); the interaction occurs in interphase nuclei and competes for binding POGZ. Interacts with POGZ; the interaction competes for interaction with CBX5. Interacts with SETDB1; the interaction is enhanced by KAP1 sumoylation, stimulates SETDB1 histone methyltransferase activity and gene silencing. Interacts (via the PHD-type zinc finger) with UBE2I; the interaction is required for sumoylation and repressor activity. Component of the TRIM28/KAP1-ERBB4-MDM2 complex involved in connecting growth factor and DNA damage responses. Interacts directly with ERBB4; the interaction represses ERBB4-mediated transcription activity. Interacts with MDM2; the interaction contributes to p53/TP53 inactivation. Component of the TRIM28/KAP1-MDM2-p53/TP53; involved in regulating p53/TP53 stabilization and activity. Interacts (via the leucine zipper alpha helical coiled-coil) with E2F1 (central region); the interaction inhibits E2F1 acetylation and transcriptional activity. Interacts with PPP1CA; the interaction dephosphorylates TRIM28 at Ser-824 and forms a complex at the p21 promoter site. Interacts with PPP1CB; the interaction is weak but is increased on dephosphorylation at Ser-824. Interacts with FES/FPS. Interacts with SMARCAD1. Interacts with, and sumoylates IRF7. Interacts with MAGEC2. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT…
messages: Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs). Mediates gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1 (which specifically methylates histone H3 at 'Lys-9' (H3K9me)) to the promoter regions of KRAB target genes. Enhances transcriptional repression by coordinating the increase in H3K9me, the decrease in histone H3 'Lys-9 and 'Lys-14' acetylation (H3K9ac and H3K14ac, respectively) and the disposition of HP1 proteins to silence gene expression. Recruitment of SETDB1 induces heterochromatinization. May play a role as a coactivator for CEBPB and NR3C1 in the transcriptional activation of ORM1. Also a corepressor for ERBB4. Inhibits E2F1 activity by stimulating E2F1-HDAC1 complex formation and inhibiting E2F1 acetylation. May serve as a partial backup to prevent E2F1-mediated apoptosis in the absence of RB1. Important regulator of CDKN1A/p21(CIP1). Has E3 SUMO-protein ligase activity toward itself via its PHD-type zinc finger. Also specifically sumoylates IRF7, thereby inhibiting its transactivation activity. Ubiquitinates p53/TP53 leading to its proteosomal degradation; the function is enhanced by MAGEC2 and MAGEA2, and possibly MAGEA3 and MAGEA6. Mediates the nuclear localization of KOX1, ZNF268 and ZNF300 transcription factors. In association with isoform 2 of ZFP90, is required for the transcriptional repressor activity of FOXP3 and the suppressive function of regulatory T-cells (Treg) (PubMed:23543754). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). In ESCs, in collaboration with SETDB1, is also required for H3K9me3 and silencing of endog…
messages: Nucleus
messages: Sumoylation/desumoylation events regulate TRIM28-mediated transcriptional repression. Sumoylation is required for interaction with CHD3 and SETDB1 and the corepressor activity. Represses and is repressed by Ser-824 phosphorylation. Enhances the TRIM28 corepressor activity, inhibiting transcriptional activity of a number of genes including GADD45A and CDKN1A/p21. Lys-554, Lys-779 and Lys-804 are the major sites of sumoylation. In response to Dox-induced DNA damage, enhanced phosphorylation on Ser-824 prevents sumoylation and allows de-repression of CDKN1A/p21.
messages: The HP1 box is both necessary and sufficient for HP1 binding.
messages: The PHD-type zinc finger enhances CEBPB transcriptional activity. The PHD-type zinc finger, the HP1 box and the bromo domain, function together to assemble the machinery required for repression of KRAB domain-containing proteins. Acts as an intramolecular SUMO E3 ligase for autosumoylation of bromodomain.
messages: The RING-finger-B Box-coiled-coil/tripartite motif (RBCC/TRIM motif) is required for interaction with the KRAB domain of KRAB-zinc finger proteins. Binds four zinc ions per molecule. The RING finger and the N-terminal of the leucine zipper alpha helical coiled-coil region of RBCC are required for oligomerization.

9606:GFY
gene id: 9606:GFY
uniprot id: I3L273
names: Function
names: Subcellular Location Annotation
messages: Golgi apparatus membrane
messages: Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling (By similarity).

9606:IDE
gene id: 9606:IDE
uniprot id: A0A3B3ISG5
uniprot id: A0A7I2V2P6
uniprot id: P14735
names: Activity Regulation
names: Cofactor
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts (via N-terminus) with varicella-zoster virus (VZV) envelope glycoprotein E (via N-terminus); the membrane-associated isoform may function as an entry receptor for this virus (PubMed:17055432, PubMed:17553876).
messages: (Microbial infection) The membrane-associated isoform acts as an entry receptor for varicella-zoster virus (VZV).
messages: ATP-binding induces a conformation change.
messages: Activated by small peptides (By similarity). Activated by ATP and GTP, and to a lesser extent by CTP, TTP and PPPi (PubMed:17613531). Inhibited by bacitracin (PubMed:17055432, PubMed:17613531). In vitro modification of Cys residues impairs enzyme activity (PubMed:18986166).
messages: Belongs to the peptidase M16 family.
messages: Binds 1 zinc ion per subunit.
messages: Cell membrane
messages: Detected in brain and in cerebrospinal fluid (at protein level).
messages: Homodimer (PubMed:17051221, PubMed:19321446, PubMed:23922390, PubMed:26394692, PubMed:29596046) (Probable). Can also form homotetramers (By similarity).
messages: Plays a role in the cellular breakdown of insulin, APP peptides, IAPP peptides, natriuretic peptides, glucagon, bradykinin, kallidin, and other peptides, and thereby plays a role in intercellular peptide signaling (PubMed:2293021, PubMed:10684867, PubMed:26968463, PubMed:17051221, PubMed:17613531, PubMed:18986166, PubMed:19321446, PubMed:23922390, PubMed:24847884, PubMed:26394692, PubMed:29596046, PubMed:21098034). Substrate binding induces important conformation changes, making it possible to bind and degrade larger substrates, such as insulin (PubMed:23922390, PubMed:26394692, PubMed:29596046). Contributes to the regulation of peptide hormone signaling cascades and regulation of blood glucose homeostasis via its role in the degradation of insulin, glucagon and IAPP (By similarity). Plays a role in the degradation and clearance of APP-derived amyloidogenic peptides that are secreted by neurons and microglia (PubMed:9830016, PubMed:26394692) (Probable). Degrades the natriuretic peptides ANP, BNP and CNP, inactivating their ability to raise intracellular cGMP (PubMed:21098034). Also degrades an aberrant frameshifted 40-residue form of NPPA (fsNPPA) which is associated with familial atrial fibrillation in heterozygous patients (PubMed:21098034). Involved in antigen processing. Produces both the N terminus and the C terminus of MAGEA3-derived antigenic peptide (EVDPIGHLY) that is presented to cytotoxic T lymphocytes by MHC class I.
messages: Secreted
messages: The N-terminus is blocked.
messages: The SlyX motif may be involved in the non-conventional secretion of the protein.
messages: cytosol

9606:TNNI3
gene id: 9606:TNNI3
uniprot id: P19429
uniprot id: Q6FGX2
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Belongs to the troponin I family.
messages: Binds to actin and tropomyosin. Interacts with TRIM63. Interacts with STK4/MST1.
messages: Phosphorylated at Ser-42 and Ser-44 by PRKCE; phosphorylation increases myocardium contractile dysfunction (By similarity). Phosphorylated at Ser-23 and Ser-24 by PRKD1; phosphorylation reduces myofilament calcium sensitivity. Phosphorylated preferentially at Thr-31. Phosphorylation by STK4/MST1 alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

9606:NLGN3
gene id: 9606:NLGN3
uniprot id: A0A8I5KSB7
uniprot id: A0A8I5QJH8
uniprot id: B7Z3P8
uniprot id: Q4G160
uniprot id: Q6MZK0
uniprot id: Q9NZ94
uniprot id: X5D2P6
uniprot id: X5D7L6
uniprot id: X5DNV3
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the type-B carboxylesterase/lipase family.
messages: Cell membrane
messages: Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity).
messages: Contaminating sequence. Potential poly-A sequence.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Expressed in the blood vessel walls (at protein level). Detected in throughout the brain and in spinal cord. Detected in brain, and at lower levels in pancreas islet beta cells.
messages: Interacts with NRXN1, NRXN2 and NRXN3. Interacts (via its C-terminus) with DLG4/PSD-95 (via PDZ domain 3) (By similarity). Homodimer, and heterodimer with NLGN1 and NLGN2 (By similarity).
messages: Membrane
messages: Synapse

9606:MTCH2
gene id: 9606:MTCH2
uniprot id: B4DHQ0
uniprot id: Q9Y6C9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the mitochondrial carrier (TC 2.A.29) family.
messages: Interacts with p15BID.
messages: Membrane
messages: Mitochondrion outer membrane
messages: Plays important roles in regulating apoptosis, metabolism and mitochondrial dynamics. MTCH2 acts as a receptor for the truncated form of pro-apoptotic BH3-interacting domain death agonist (p15 BID) and has therefore a critical function in apoptosis. Plays a critical role in controlling the quiescence/cycling of hematopoietic stem cells (HSCs). Acts as a regulator of mitochondrial fusion, essential for the naive-to-primed interconversion of embryonic stem cells (ESCs). Acts as a regulator of lipid homeostasis and has a regulatory role in adipocyte differentiation and biology.

9606:CDR2
gene id: 9606:CDR2
uniprot id: Q01850
names: Similarity
messages: Belongs to the CDR2 family.

9606:TOLLIP
gene id: 9606:TOLLIP
uniprot id: B3KR28
uniprot id: Q6FIE9
uniprot id: Q9H0E2
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the tollip family.
messages: Both ATG8-interaction motifs (AIM1 and AIM2) are required for the association with ATG8 family proteins.
messages: Component of the signaling pathway of IL-1 and Toll-like receptors (PubMed:10854325, PubMed:11751856). Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex (PubMed:10854325). Inhibits IRAK1 phosphorylation and kinase activity (PubMed:11751856). Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates (PubMed:25042851). The TOLLIP-dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates (PubMed:25042851). In a complex with TOM1, recruits ubiquitin-conjugated proteins onto early endosomes (PubMed:15047686). Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:26320582).
messages: Cytoplasm
messages: Early endosome
messages: Endosome
messages: Oligomerizes (PubMed:11751856). Interacts (via C-terminus) with TLR2 and the TLR4-MD2 complex (PubMed:11751856). Exists as complex with IRAK1 in unstimulated cells (PubMed:10854325). Upon IL-1 signaling, binds to the activated IL-1 receptor complex containing IL-1RI, IL-1RacP and the adapter protein MyD88, where it interacts with the TIR domain of IL-1RacP (PubMed:10854325). MyD88 then triggers IRAK1 autophosphorylation, which in turn leads to the dissociation of IRAK1 from TOLLIP and IL-1RAcP (PubMed:10854325). Found in a complex with TOM1; interacts (via N-terminus) with TOM1 (via GAT domain); the interactions leads to TOM1-recruitment to endosomes and inhibition of TOLLIP binding to PtdIns(3)P (PubMed:14563850, PubMed:15047686, PubMed:31263572, PubMed:26320582). Interacts with TOM1L2 (PubMed:16412388). Interacts with ATG8 family proteins (via AIM motifs) (PubMed:25042851). Interacts (via CUE domain) with ubiquitin (PubMed:25042851, PubMed:14563850). Interacts with LRBA (PubMed:31263572).
messages: Phosphorylated by IRAK1 upon stimulation by IL-1 or microbial products.
messages: The N-terminal TOM1-binding domain (residues 1-53) is a disordered domain that partially folds when bound to the GAT domain of TOM1.

9606:TBL3
gene id: 9606:TBL3
uniprot id: Q12788
names: Subcellular Location Annotation
messages: nucleolus

9606:MYH15
gene id: 9606:MYH15
uniprot id: Q9Y2K3
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
messages: Muscle contraction.
messages: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).
messages: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-15 (MYO15).
messages: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
messages: myofibril

9606:CPSF3
gene id: 9606:CPSF3
uniprot id: G5E9W3
uniprot id: Q9UKF6
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. CPSF3 subfamily.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as mRNA 3'-end-processing endonuclease (PubMed:30507380). Also involved in the histone 3'-end pre-mRNA processing (PubMed:30507380). U7 snRNP-dependent protein that induces both the 3'-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5' to 3' exonuclease for degrading the subsequent downstream cleavage product (DCP) of mature histone mRNAs. Cleavage occurs after the 5'-ACCCA-3' sequence in the histone pre-mRNA leaving a 3'hydroxyl group on the upstream fragment containing the stem loop (SL) and 5' phosphate on the downstream cleavage product (DCP) starting with CU nucleotides. The U7-dependent 5' to 3' exonuclease activity is processive and degrades the DCP RNA substrate even after complete removal of the U7-binding site. Binds to the downstream cleavage product (DCP) of histone pre-mRNAs and the cleaved DCP RNA substrate in a U7 snRNP dependent manner. Required for entering/progressing through S-phase of the cell cycle (PubMed:30507380). Required for the selective processing of microRNAs (miRNAs) during embryonic stem cell differentiation via its interaction with ISY1 (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity).
messages: Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1. Interacts with CPSF2, CSTF2 and SYMPK. Interacts with TUT1; the interaction is direct and mediates the recruitment of the CPSF complex on the 3'UTR of pre-mRNAs. Interacts with WDR33. Interacts with ZC3H3 (By similarity).
messages: Nucleus
messages: Sumoylated on Lys-462, Lys-465 and Lys-545, preferentially by SUMO3.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:LMO2
gene id: 9606:LMO2
uniprot id: P25791
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving LMO2 may be a cause of a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(11,14)(p13;q11) with TCRD.
messages: Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state.
messages: Interacts via its LIM domains with ELF2 and LDB1. Also interacts with basic helix-loop-helix protein TAL1/SCL and can assemble in a complex with LMO2 and TAL1/SCL (By similarity). Interacts with BEX2 and KDM5A.
messages: Intron retention.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus
messages: The second LIM zinc-binding domain interacts with KDM5A.

9606:SMIM20
gene id: 9606:SMIM20
uniprot id: Q8N5G0
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly (PubMed:26321642). Promotes the progression of complex assembly after the association of MT-CO1/COX1 with COX4I1 and COX6C (PubMed:26321642). Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover (PubMed:26321642).
messages: Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14 (PubMed:26321642). Interacts with COA3/MITRAC12 and COX4I1 (PubMed:26321642). Directly interacts with newly synthesized MT-CO1/COX1 (PubMed:26321642).
messages: Expressed in the ovary, specifically in granulosa cells of follicles that have passed the primary stage and in oocytes (at protein level).
messages: Gene prediction.
messages: Mitochondrion inner membrane
messages: Peptide involved in a broad spectrum of regulatory functions (By similarity). Is a ligand for GPR173 (By similarity). As part of the reproductive cycle, it regulates gonadotropin-releasing hormone (GnRH) signaling in the hypothalamus and pituitary gland which augments the release of luteinizing hormone (By similarity). Plays a protective role in memory retention through activation of GNRHR (By similarity). Regulates the secretion of AVP by hypothalamic neurons (By similarity). Plays a role in the transduction of the itch sensation (By similarity). Induces anxiolytic effects, reducing behavior associated with anxiety (By similarity). Regulates food intake as well as satiation and satiety (By similarity). In the ovary, it regulates follicular growth by stimulating granulosa cell proliferation by increasing the expression of GPR173, CREB1, CYP19A1, KITLG, FSHR, and LHCGR (PubMed:30933929). It also increases the production of estradiol (E2) (PubMed:30933929). In the heart, it regulates contractility and relaxation (By similarity). It also plays a cardioprotective role during ischemia, where it activates the SAFE and RISK pathways (By similarity). Stimulates the proliferation and differentiation of preadipocytes (By similarity). In pancreatic islet cells, it induces proliferation of islet cells as well as the production of INS (By similarity).
messages: Secreted

9606:AGGF1
gene id: 9606:AGGF1
uniprot id: Q8N302
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Interacts with the secreted angiogenic factor TNFSF12.
messages: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells.

9606:ALG10
gene id: 9606:ALG10
uniprot id: Q5BKT4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol.
messages: Belongs to the ALG10 glucosyltransferase family.
messages: Endoplasmic reticulum membrane

9606:RBM38
gene id: 9606:RBM38
uniprot id: Q9H0Z9
names: Caution
names: Function
names: Induction
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: (Microbial infection) Essential factor for the splicing of the pre-mRNAs of human parvovirus B19 (B19V) and for the expression of B19V 11-kDa protein, which enhances viral replication.
messages: Belongs to the RBM38 family.
messages: By p53/TP53 family. Directly induced by p53/TP53, TP63/p63 and TP73/p73.
messages: Chimeric cDNA.
messages: It is uncertain whether Met-1 or Met-24 is the initiator.
messages: Nucleus
messages: RNA-binding protein that specifically bind the 3'-UTR of CDKN1A transcripts, leading to maintain the stability of CDKN1A transcripts, thereby acting as a mediator of the p53/TP53 family to regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitor transcriptionally regulated by the p53/TP53 family to induce cell cycle arrest. Isoform 1, but not isoform 2, has the ability to induce cell cycle arrest in G1 and maintain the stability of CDKN1A transcripts induced by p53/TP53. Also acts as a mRNA splicing factor. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Plays a role in myogenic differentiation.
messages: cytosol

9606:GOLGA7B
gene id: 9606:GOLGA7B
uniprot id: Q2TAP0
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ERF4 family.
messages: Cell membrane
messages: Expressed in brain, but not in lung, nor chondrocytes.
messages: Golgi apparatus membrane
messages: Palmitoylated by ZDHHC5. Palmitoylation is required for the maintenance of ZDHHC5 at the plasma membrane.
messages: Play a role in cell adhesion by regulating the plasma membrane localization of the palmitoyltransferase ZDHHC5 (PubMed:31402609). May be involved in protein transport from Golgi to cell surface.
messages: Shares an exon with the neighboring tail-to-tail oriented gene CRTAC1.

9606:DENND1A
gene id: 9606:DENND1A
uniprot id: Q8TEH3
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Genetic variants in DENND1A may play a role in susceptibility to polycystic ovary syndrome (PCOS), the most common endocrine disease among premenopausal women. PCOS is a complex disorder characterized by infertility, hirsutism, obesity, various menstrual disturbances, and enlarged ovaries studded with atretic follicles.
messages: Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity).
messages: Interacts with RAB35 (PubMed:20154091). Interacts with clathrin and with the adapter protein complex 2, AP-2 (PubMed:20154091, PubMed:20937701). Interacts with ITSN1 and SH3GL2 (By similarity). Interacts (when phosphorylated) with YWHAE (PubMed:26055712).
messages: Phosphorylated on serine and/or threonine in an Akt-dependent manner. Phosphorylation probably regulates the guanine nucleotide exchange factor (GEF) activity, possibly by disrupting an intramolecular interaction between the DENN domain and the C-terminus of the protein, thereby relieving the autoinhibition.
messages: Presynaptic cell membrane
messages: The guanine nucleotide exchange factor (GEF) activity is autoinhibited. Autoinhibition may be the result of intramolecular interaction between the DENN domain and the C-terminus, which is disrupted upon phosphorylation. Activation is regulated by Akt activation.
messages: clathrin-coated vesicle membrane

9606:CYP17A1
gene id: 9606:CYP17A1
uniprot id: P05093
uniprot id: Q1HB44
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (PubMed:9452426, PubMed:25301938) (Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA. Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:27339894, PubMed:25301938). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938).
messages: Belongs to the cytochrome P450 family.
messages: Endoplasmic reticulum membrane
messages: Microsome membrane
messages: Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.
messages: Regulated predominantly by intracellular cAMP levels (PubMed:10720067). The 17,20-lyase activity is stimulated by cytochrome b5, which acts as an allosteric effector increasing the Vmax of the lyase activity (PubMed:9452426, PubMed:27339894).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NEUROG2
gene id: 9606:NEUROG2
uniprot id: Q9H2A3
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Efficient DNA binding requires dimerization with another bHLH protein.
messages: Nucleus
messages: Transcriptional regulator. Involved in neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').

9606:CEL
gene id: 9606:CEL
uniprot id: B4DSX9
uniprot id: O75612
uniprot id: Q86SR3
names: Similarity
messages: Belongs to the type-B carboxylesterase/lipase family.

9606:CSE1L
gene id: 9606:CSE1L
uniprot id: A0A384NKW7
uniprot id: P55060
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the XPO2/CSE1 family.
messages: Cytoplasm
messages: Detected in brain, placenta, ovary, testis and trachea (at protein level) (PubMed:10331944). Widely expressed (PubMed:10331944). Highly expressed in testis and in proliferating cells (PubMed:7479798,PubMed:10331944).
messages: Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.
messages: Found in a complex with CSE1L/XPO2, Ran and KPNA2 (PubMed:9323134, PubMed:9786944). Binds with high affinity to importin-alpha only in the presence of RanGTP. The complex is dissociated by the combined action of RanBP1 and RanGAP1 (PubMed:9323134). Interacts with CFTR (PubMed:20933420).
messages: Nucleus

9606:KCNE1
gene id: 9606:KCNE1
uniprot id: A7LFK2
uniprot id: A7LFK4
uniprot id: C7S316
uniprot id: P15382
uniprot id: Q6FHJ6
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).
messages: Apical cell membrane
messages: Belongs to the potassium channel KCNE family.
messages: Cell membrane
messages: Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed:19219384). Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells.
messages: Interacts with KCNB1. Interacts with KCNC2 (By similarity). Associates with KCNH2/HERG (PubMed:9230439). Interacts with KNCQ1; targets the complex KNCQ1-KCNE1 to the membrane raft (PubMed:20533308). The complex KNCQ1-KNCE1 interacts with the scolopendra toxin SSD609 (PubMed:26307551).
messages: Membrane raft
messages: N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.
messages: Phosphorylation inhibits the potassium current.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NOTO
gene id: 9606:NOTO
uniprot id: A8MTQ0
names: Function
names: Subcellular Location Annotation
messages: Nucleus
messages: Transcription regulator acting downstream of both FOXA2 and Brachyury (T) during notochord development. Required for node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate. Activates the transcription of ciliary proteins C11orf97 homolog, FAM183B and SPACA9 in the embryonic ventral node (By similarity).

9606:URB2
gene id: 9606:URB2
uniprot id: Q14146
names: Function
names: Subcellular Location Annotation
messages: Essential for hematopietic stem cell development through the regulation of p53/TP53 pathway.
messages: nucleolus

9606:RTN4
gene id: 9606:RTN4
uniprot id: Q9NQC3
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds to RTN4R (PubMed:19052207). Interacts with ATL1 (PubMed:19665976). Interacts with TMEM170A (PubMed:19665976, PubMed:26906412). Interacts with RTN4IP1 (By similarity).
messages: Cell junction
messages: Cell membrane
messages: Developmental neurite growth regulatory factor with a role as a negative regulator of axon-axon adhesion and growth, and as a facilitator of neurite branching. Regulates neurite fasciculation, branching and extension in the developing nervous system. Involved in down-regulation of growth, stabilization of wiring and restriction of plasticity in the adult CNS (PubMed:10667797, PubMed:11201742). Regulates the radial migration of cortical neurons via an RTN4R-LINGO1 containing receptor complex (By similarity). Acts as a negative regulator of central nervous system angiogenesis. Inhibits spreading, migration and sprouting of primary brain microvascular endothelial cells (MVECs). Also induces the retraction of MVECs lamellipodia and filopodia in a ROCK pathway-dependent manner (By similarity).
messages: Endoplasmic reticulum membrane
messages: Homodimer (PubMed:27786289). Interacts with BAD/Bcl-xl and BCL2. Interact with RTN3 (PubMed:12811824, PubMed:16979658). Interacts with NGBR (PubMed:16835300). Interacts with SPTLC1 (By similarity). Interacts with GRAMD4 (By similarity). Interacts with CDH5 (PubMed:21183689). Interacts with BACE1 and BACE2 (PubMed:15286784, PubMed:16965550). Interacts with REEP5 (PubMed:32075961). Interacts with RETREG3 (PubMed:33826365).
messages: Interacts in trans with CNTNAP1 (By similarity). Interacts with REEP5 (PubMed:32075961).
messages: Interacts with BACE1 and BACE2 (PubMed:15286784, PubMed:16965550). Interacts with TMEM33 (PubMed:25612671).
messages: Isoform A: is specifically expressed in brain and testis and weakly in heart and skeletal muscle. Isoform B: widely expressed except for the liver. Highly expressed in endothelial cells and vascular smooth muscle cells, including blood vessels and mesenteric arteries (PubMed:15034570, PubMed:21183689). Isoform C: is expressed in brain, skeletal muscle and adipocytes. Isoform D is testis-specific.
messages: Mainly function in endothelial cells and vascular smooth muscle cells, is also involved in immune system regulation (Probable). Modulator of vascular remodeling, promotes the migration of endothelial cells but inhibits the migration of vascular smooth muscle cells. Regulates endothelial sphingolipid biosynthesis with direct effects on vascular function and blood pressure. Inhibits serine palmitoyltransferase, SPTLC1, the rate-limiting enzyme of the novo sphingolipid biosynthetic pathway, thereby controlling production of endothelial sphingosine-1-phosphate (S1P). Required to promote macrophage homing and functions such as cytokine/chemokine gene expression involved in angiogenesis, arteriogenesis and tissue repair. Mediates ICAM1 induced transendothelial migration of leukocytes such as monocytes and neutrophils and acute inflammation. Necessary for immune responses triggered by nucleic acid sensing TLRs, such as TLR9, is required for proper TLR9 location to endolysosomes. Also involved in immune response to LPS. Plays a role in liver regeneration through the modulation of hepatocytes proliferation (By similarity). Reduces the anti-apoptotic activity of Bcl-xl and Bcl-2. This is likely consecutive to their change in subcellular location, from the mitochondria to the endoplasmic reticulum, after binding and sequestration (PubMed:11126360). With isoform C, inhibits BACE1 activity and amyloid precursor protein processing (PubMed:16965550).
messages: N-terminal part, called Am-Nogo-B(1-200), is the functional domain for RTN4B-mediated signaling in endothelial and vascular smooth muscle cells.
messages: Regulates cardiomyocyte apoptosis upon hypoxic conditions (By similarity). With isoform B, inhibits BACE1 activity and amyloid precursor protein processing (PubMed:16965550).
messages: Required to induce the formation and stabilization of endoplasmic reticulum (ER) tubules (PubMed:27619977, PubMed:25612671, PubMed:24262037). They regulate membrane morphogenesis in the ER by promoting tubular ER production (PubMed:27619977, PubMed:25612671, PubMed:24262037, PubMed:27786289). They influence nuclear envelope expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins (PubMed:26906412). However each isoform have specific functions mainly depending on their tissue expression specificities (Probable).
messages: Three regions, residues 59-172, 544-725 and the loop 66 amino acids, between the two transmembrane domains, known as Nogo-66 loop, appear to be responsible for the inhibitory effect on neurite outgrowth and the spreading of neurons. This Nogo-66 loop, mediates also the binding of RTN4 to its receptor (By similarity).

9606:DPM3
gene id: 9606:DPM3
uniprot id: A0A140VJI4
uniprot id: Q86TM7
uniprot id: Q9P2X0
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DPM3 family.
messages: Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; within the complex, associates with DPM1 via its C-terminal domain and with DPM2 via its N-terminal portion (PubMed:10835346, PubMed:19576565). This interaction stabilizes DPM1 protein (PubMed:19576565).
messages: Component of the dolichol-phosphate mannose (DPM) synthase complex.
messages: Endoplasmic reticulum membrane
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum.
messages: Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit to the ER.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:PTPRJ
gene id: 9606:PTPRJ
uniprot id: Q12913
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
messages: Cell junction
messages: Cell membrane
messages: Expressed in the promyelocytic cell line HL-60, the granulocyte-macrophage colony-stimulating factor-dependent leukemic cell line F-36P, and the IL3 and erythropoietin-dependent leukemic cell line F-36E. Expressed predominantly in epithelial cells and lymphocytes. Enhanced expression at high cell density.
messages: Monomer. Interacts with CTNNB1 (phosphorylated) and JUP (phosphorylated). Interacts with FLT3 (phosphorylated). Interacts with GAB1 and GRB2.
messages: N- and O-glycosylated.
messages: Originally thought to dephosphorylate RET. However this paper was retracted due to manipulation of immunoblot data.
messages: Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2 (PubMed:10821867, PubMed:12062403, PubMed:12370829, PubMed:12475979, PubMed:18348712, PubMed:19494114, PubMed:19922411, PubMed:21262971). Plays a role in cell adhesion, migration, proliferation and differentiation (PubMed:12370829, PubMed:14709717, PubMed:16682945, PubMed:19836242). Involved in vascular development (By similarity). Regulator of macrophage adhesion and spreading (By similarity). Positively affects cell-matrix adhesion (By similarity). Positive regulator of platelet activation and thrombosis. Negative regulator of cell proliferation (PubMed:16682945). Negative regulator of PDGF-stimulated cell migration; through dephosphorylation of PDGFR (PubMed:21091576). Positive regulator of endothelial cell survival, as well as of VEGF-induced SRC and AKT activation; through KDR dephosphorylation (PubMed:18936167). Negative regulator of EGFR signaling pathway; through EGFR dephosphorylation (PubMed:19836242). Enhances the barrier function of epithelial junctions during reassembly (PubMed:19332538). Negatively regulates T-cell receptor (TCR) signaling (PubMed:9531590, PubMed:9780142, PubMed:11259588). Upon T-cell TCR activation, it is up-regulated and excluded from the immunological synapses, while upon T-cell-antigen presenting cells (APC) disengagement, it is no longer excluded and can dephosphorylate PLCG1 and LAT to down-regulate prolongation of signaling (PubMed:11259588, PubMed:12913111).
messages: ruffle membrane

9606:DRD2
gene id: 9606:DRD2
uniprot id: A0A024R3C5
uniprot id: A0A024R3I6
uniprot id: P14416
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase (PubMed:21645528). Positively regulates postnatal regression of retinal hyaloid vessels via suppression of VEGFR2/KDR activity, downstream of OPN5 (By similarity).
messages: Expressed in the anterior pituitary gland.
messages: Forms homo- and heterooligomers with DRD4 (PubMed:21184734). The interaction with DRD4 may modulate agonist-induced downstream signaling (PubMed:21184734). Interacts with CADPS and CADPS2 (PubMed:15857609). Interacts with GPRASP1, PPP1R9B and CLIC6 (By similarity). Interacts with ARRB2 (By similarity). Interacts with HTR2A (PubMed:21645528). Interacts with GNAI2 isoform sGi2, the interaction allows the creation of an intracellular pool of DRD2 that can be released to cell surface upon agonist stimulation (PubMed:17550964). Interacts with DRD1 (By similarity). Interacts with KCNA2 (By similarity).
messages: Genetic variations in DRD2 may determine the genetic susceptibility to alcoholism [MIM:103780]. Genetic variations in DRD2 might be a protective factor against the development of withdrawal symptoms but might also be a risk factor in a highly burdened subgroup of alcoholics with a paternal and grandpaternal history of alcoholism and might contribute to suicide risk in alcoholics.
messages: Golgi apparatus membrane
messages: Membrane
messages: Palmitoylated. Palmitoylation which is required for proper localization to the plasma membrane and stability of the receptor could be carried on by ZDHHC4, ZDHHC3 and ZDHHC8.

9606:TMEM107
gene id: 9606:TMEM107
uniprot id: Q6UX40
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Membrane
messages: Part of the tectonic-like complex (also named B9 complex). Interacts with TMEM237, TMEM231, MKS1 and TMEM216.
messages: Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium

9606:CHRNA5
gene id: 9606:CHRNA5
uniprot id: H0YM98
uniprot id: P30532
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-5/CHRNA5 sub-subfamily.
messages: Cell membrane
messages: Genetic variations in CHRNA5 have been associated with susceptibility to smoking-related behavioral traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM:612052].
messages: Neuronal AChR seems to be composed of two different type of subunits: alpha and non-alpha (beta). Interacts with LYPD6 (PubMed:27344019).
messages: Postsynaptic cell membrane
messages: Synaptic cell membrane

9606:VIT
gene id: 9606:VIT
uniprot id: Q6UXI7
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Binds dermatan sulfate and chondroitin sulfate.
messages: Promotes matrix assembly and cell adhesiveness. Plays a role in spinal cord formation by regulating the proliferation and differentiation of neural stem cells.
messages: extracellular matrix

9606:PEX19
gene id: 9606:PEX19
uniprot id: A0A0S2Z497
uniprot id: P40855
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peroxin-19 family.
messages: Cytoplasm
messages: Interacts with a broad range of peroxisomal membrane proteins, including PEX3, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14 and PEX16, PXMP2/PMP22, PXMP4/PMP24, SLC25A17/PMP34, ABCD1/ALDP, ABCD2/ALDRP, and ABCD3/PMP70. Also interacts with the tumor suppressor CDKN2A/p19ARF.
messages: May be produced at very low levels due to a premature stop CC codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Membrane
messages: Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.
messages: Peroxisome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The two main transcripts are PXF-all and PXF-delta-2.
messages: Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form.

9606:RNF133
gene id: 9606:RNF133
uniprot id: Q8WVZ7
names: Function
names: PTM
names: Subcellular Location Annotation
messages: Auto-ubiquitinated.
messages: Endoplasmic reticulum membrane
messages: Has E3 ubiquitin-protein ligase activity.

9606:CCNT1
gene id: 9606:CCNT1
uniprot id: A8K4M5
uniprot id: O60563
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) In case of HIV or SIV infections, binds to the transactivation domain of the viral nuclear transcriptional activator, Tat, thereby increasing Tat's affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes.
messages: (Microbial infection) Interacts with human herpes virus 1 (HHV-1) transcriptional regulator ICP22.
messages: (Microbial infection) Interacts with the transactivation region of HIV-1, HIV-2 and SIV Tat.
messages: ADP-ribosylation on serine residues by PARP1 in response to DNA damage disrupts the phase separation activity of CCNT1, thereby preventing activation of CDK9.
messages: Belongs to the cyclin family. Cyclin C subfamily.
messages: Cyclin-T1 is the predominant cyclin that associates with CDK9 to form a heterodimer called P-TEFb (PubMed:9499409, PubMed:35393539). P-TEFb forms a complex with AFF4/AF5Q31 (PubMed:12065898). Component of a complex which is at least composed of HTATSF1/Tat-SF1, P-TEFb complex, RNA pol II, SUPT5H, and NCL/nucleolin (PubMed:10393184). Component of the 7SK snRNP complex at least composed of P-TEFb (composed of CDK9 and CCNT1/cyclin-T1), HEXIM1, HEXIM2, BCDIN3, SART3 proteins and 7SK and U6 snRNAs (PubMed:17643375). Interacts with BRD4, targets chromatin binding (PubMed:16109376, PubMed:16109377, PubMed:24360279). Interacts with JMJD6 (PubMed:24360279). Interacts with MDFIC (PubMed:12944466). Interacts with HSF1 (PubMed:27189267). Interacts with HTATSF1 (PubMed:10913173). Interacts with TBX21 (PubMed:27292648).
messages: Nucleus
messages: Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II) (PubMed:16109376, PubMed:16109377, PubMed:35393539). Required to activate the protein kinase activity of CDK9: acts by mediating formation of liquid-liquid phase separation (LLPS) that enhances binding of P-TEFb to the CTD of RNA Pol II (PubMed:29849146, PubMed:35393539).
messages: The histidine-rich domain (HRD) region is intrinsically disordered and promotes the formation of phase-separated liquid droplets that enhance binding of the P-TEFb complex to the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II).
messages: Ubiquitously expressed.

9606:TMEM87B
gene id: 9606:TMEM87B
uniprot id: Q96K49
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the LU7TM family. TMEM87 subfamily.
messages: Golgi apparatus membrane
messages: May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN).
messages: TMEM87B mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness.

9606:PGGHG
gene id: 9606:PGGHG
uniprot id: Q32M88
names: Function
names: Similarity
messages: Belongs to the glycosyl hydrolase 65 family.
messages: Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins.

9606:NOX1
gene id: 9606:NOX1
uniprot id: A6NGA6
uniprot id: Q1ZYL4
uniprot id: Q9Y5S8
names: Activity Regulation
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Defects in NOX1 may play a role in the pathogenesis of very early onset inflammatory bowel disease (VEOIBD), a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology diagnosed before 6 years of age. VEOIBD is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but the phenotype of children with onset of Crohn disease occurring younger than the age of 10 is predominantly colonic, with a lower risk of ileal disease. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.
messages: Membrane
messages: NOH-1L is detected in colon, uterus, prostate, and colon carcinoma, but not in peripheral blood leukocytes. NOH-1S is detected only in colon and colon carcinoma cells.
messages: NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain.
messages: NOX1, NOXA1, NOXO1, RAC1 and CYBA forms a functional multimeric complex supporting reactive oxygen species (ROS) production. Interacts with NOXA1 and NOXO1.
messages: The oxidase activity is potentiated by NOXA1 and NOXO1.
messages: invadopodium membrane

9606:DEFB121
gene id: 9606:DEFB121
uniprot id: A0A384MDM0
uniprot id: Q5GRF9
uniprot id: Q5J5C9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Abundant expression in the male reproductive tract only.
messages: Belongs to the beta-defensin family.
messages: Has antibacterial activity.
messages: Secreted

9606:ZNF714
gene id: 9606:ZNF714
uniprot id: Q96N38
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:NUCKS1
gene id: 9606:NUCKS1
uniprot id: Q9H1E3
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Chromatin-associated protein involved in DNA repair by promoting homologous recombination (HR) (PubMed:26323318). Binds double-stranded DNA (dsDNA) and secondary DNA structures, such as D-loop structures, but with less affinity than RAD51AP1 (PubMed:26323318).
messages: Chromosome
messages: Does not interact with RAD51.
messages: Nucleus
messages: Phosphorylated in an ATM-dependent manner in response to DNA damage (PubMed:26323318). Phosphorylated by CDK1 and casein kinase (PubMed:11298763).
messages: Widely expressed, with highest levels in thyroid gland, prostate and uterus and in fetal liver, thymus and lung.

9606:SAMD4A
gene id: 9606:SAMD4A
uniprot id: Q9UPU9
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Acts as a translational repressor of SRE-containing messengers.
messages: Belongs to the SMAUG family.
messages: Cytoplasm
messages: Intron retention.
messages: dendrite
messages: synaptosome

9606:HTR1B
gene id: 9606:HTR1B
uniprot id: A8K215
uniprot id: P28222
uniprot id: X5D7I5
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A residue in the 7th transmembrane region (Thr-355 in human, 'Asn-351' in mouse and rat) is important for species-specific sensitivity to various agonists.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Detected in cerebral artery smooth muscle cells (at protein level). Detected in brain cortex, striatum, amygdala, medulla, hippocampus, caudate nucleus and putamen.
messages: G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances, such as lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Regulates the release of 5-hydroxytryptamine, dopamine and acetylcholine in the brain, and thereby affects neural activity, nociceptive processing, pain perception, mood and behavior. Besides, plays a role in vasoconstriction of cerebral arteries.
messages: G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Regulates the release of 5-hydroxytryptamine, dopamine and acetylcholine in the brain, and thereby affects neural activity, nociceptive processing, pain perception, mood and behavior. Besides, plays a role in vasoconstriction of cerebral arteries.
messages: Homodimer. Heterodimer with HTR1D.
messages: Ligands are bound in a hydrophobic pocket formed by the transmembrane helices.
messages: Membrane
messages: Palmitoylated.
messages: Phosphorylated.
messages: Phosphorylated. Desensitization of the receptor may be mediated by its phosphorylation.

9606:RSPH3
gene id: 9606:RSPH3
uniprot id: Q86UC2
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the flagellar radial spoke RSP3 family.
messages: Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.
messages: Interacts with phosphorylated MAPK1. Interacts with MEK1. Interacts with PKA regulatory subunits PRKAR1A and PRKAR1B.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium
messages: cilium axoneme

9606:FOXI2
gene id: 9606:FOXI2
uniprot id: Q6ZQN5
names: Function
names: Subcellular Location Annotation
messages: Nucleus
messages: Possible transcriptional activator.

9606:MAP3K19
gene id: 9606:MAP3K19
uniprot id: Q56UN5
names: Sequence Caution
names: Similarity
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
messages: Non-canonical splice intron-exon junction.

9606:TBCC
gene id: 9606:TBCC
uniprot id: Q15814
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TBCC family.
messages: Cytoplasm
messages: Expressed in the retina. Expressed in the rod and cone photoreceptors, extending from the inner segments (IS), through the outer nuclear layer (ONL) and into the synapses in the outer plexiform layer (OPL). Strongly expressed to the photoreceptor connecting cilium at the tips of the IS (at protein level).
messages: Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state.
messages: Tubulin-folding protein; involved in the final step of the tubulin folding pathway.

9606:ST8SIA6
gene id: 9606:ST8SIA6
uniprot id: P61647
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Alpha-2,8-sialyltransferase that prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups.
messages: Belongs to the glycosyltransferase 29 family.
messages: Golgi apparatus membrane

9606:TJAP1
gene id: 9606:TJAP1
uniprot id: A0A024RD56
uniprot id: Q5JTD0
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Interacts with DLG1 (PubMed:11602598). Interacts with ARF6 (GTP-bound form) (By similarity).
messages: Membrane
messages: Plays a role in regulating the structure of the Golgi apparatus.
messages: Ubiquitously expressed.
messages: tight junction
messages: trans-Golgi network

9606:FIZ1
gene id: 9606:FIZ1
uniprot id: Q96SL8
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Interacts with FLT3 cytoplasmic catalytic domain, following receptor stimulation, in a kinase-independent manner. Does not interact with other structurally related receptor tyrosine kinases, including KIT, CSF1R and PDGFR. Interacts with NRL (By similarity).
messages: May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation (By similarity).
messages: Nucleus
messages: Widely expressed.

9606:BROX
gene id: 9606:BROX
uniprot id: B7Z953
uniprot id: F5GXQ0
uniprot id: Q5VW32
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the BROX family.
messages: Interacts with CHMP4B.
messages: Membrane

9606:HR
gene id: 9606:HR
uniprot id: O43593
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Binds 1 Fe(2+) ion per subunit.
messages: Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors (By similarity).
messages: Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.
messages: Nucleus
messages: Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 is always the most abundant. Isoform 1 is exclusively expressed at low levels in kidney and testis. Isoform 2 is exclusively expressed at high levels in the skin.
messages: The JmjC domain and the C6-type zinc-finger are required for the demethylation activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PHYH
gene id: 9606:PHYH
uniprot id: O14832
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PhyH family.
messages: Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:9326939, PubMed:10744784, PubMed:12031666, PubMed:12923223). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs (PubMed:10744784, PubMed:12923223).
messages: Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.
messages: Interacts with FKBP52 (PubMed:10051602). Interacts with PHYHIP.
messages: Peroxisome
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:RASD1
gene id: 9606:RASD1
uniprot id: Q9Y272
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. RasD family.
messages: By dexamethasone.
messages: Cell membrane
messages: Expressed in a variety of tissues including heart, cardiovascular tissues, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, gastrointestinal and reproductive tissues.
messages: Forms a ternary complex with CAPON and NOS1. Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP. Interacts with APBB1/FE65 (By similarity).
messages: Nucleus
messages: S-nitrosylation stimulates guanine-nucleotide exchange activity.
messages: Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65 (By similarity).
messages: perinuclear region

9606:CDCA4
gene id: 9606:CDCA4
uniprot id: Q9BXL8
names: Function
names: Induction
names: Subcellular Location Annotation
names: Tissue Specificity
messages: By E2F1.
messages: Highest levels of expression in the pancreas, thymus, testis, spleen, liver, placenta and leukocytes. Relatively low levels in the lung, kidney, prostate, ovary, small intestine and colon. Hardly detectable, if at all, in the brain, skeletal muscle and heart.
messages: May participate in the regulation of cell proliferation through the E2F/RB pathway. May be involved in molecular regulation of hematopoietic stem cells and progenitor cell lineage commitment and differentiation (By similarity).
messages: Nucleus

9606:HTR3A
gene id: 9606:HTR3A
uniprot id: B4E398
uniprot id: P46098
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family.
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3A sub-subfamily.
messages: Cell membrane
messages: Expressed in cerebral cortex, amygdala, hippocampus, and testis. Detected in monocytes of the spleen and tonsil, in small and large intestine, uterus, prostate, ovary and placenta.
messages: Forms pentahomomeric complex as well as pentaheteromeric complex with HTR3B or HTR3C or HTR3D or HTR3E; homomeric complex is functional but exhibits low conductance with modified voltage dependence, and decreased agonist and antagonist affinity. Interacts with RIC3.
messages: Membrane
messages: Postsynaptic cell membrane
messages: The HA-stretch region of HTR3A seems to be responsible for the low conductance of HTR3A homomers compared to that of HTR3A/HTR3B heteromers.
messages: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses in neurons. It is a cation-specific, but otherwise relatively nonselective, ion channel.

9606:SPRED1
gene id: 9606:SPRED1
uniprot id: Q7Z699
names: Disease Annotation
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Contaminating sequence. Potential poly-A sequence.
messages: Homodimer and heterodimer (PubMed:15683364). Able to interact with SPRED2 to form heterodimers (PubMed:15683364). Interacts (via C-terminus) with TAOK1/MARKK (via C-terminus); the interaction does not affect TAOK1 kinase activity (PubMed:18216281). Interacts (via C-terminus) with TESK1 (via C-terminus); the interaction inhibits TESK1 kinase activity (PubMed:18216281). Interacts with CAV1 (PubMed:16115197). Interacts with RAS (By similarity). Interacts with palmitoyltransferase ZDHHC17/HIP14; the interaction leads to palmitoylation of SPRED1 (PubMed:24705354).
messages: Nucleus
messages: Palmitoylated by ZDHHC17/HIP14.
messages: Phosphorylated on tyrosine.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase (By similarity). Negatively regulates hematopoiesis of bone marrow (By similarity). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Attenuates actin stress fiber formation via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:18216281). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity).
messages: Ubiquitinated.
messages: Weakly expressed in embryonic cell line HEK293.
messages: caveola

9606:GPR31
gene id: 9606:GPR31
uniprot id: O00270
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: High-affinity receptor for 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (12-S-HETE), with much lower affinities for other HETE isomers (PubMed:21712392, PubMed:29227475). 12-S-HETE is a eicosanoid, a 12-lipoxygenase (ALOX12) metabolite of arachidonic acid, involved in many physiologic and pathologic processes (PubMed:26965684, PubMed:28619714, PubMed:29227475). 12-S-HETE-binding leads to activation of ERK1/2 (MAPK3/MAPK1), MEK, and NF-kappa-B pathways leading to cell growth (PubMed:21712392, PubMed:29227475). Plays a crucial role for proliferation, survival and macropinocytosis of KRAS-dependent cancer cells by mediating the translocation of KRAS from the endoplasmic reticulum to the plasma membrane (PM) and its association with the PM (PubMed:28619714). Contributes to enhanced immune responses by inducing dendrite protrusion of small intestinal CX3CR1(+) phagocytes for the uptake of luminal antigens (By similarity). Acts also as a key receptor for 12-(S)-HETE-mediated liver ischemia reperfusion injury (PubMed:29227475).
messages: Interacts with KRAS; in a farnesylation-dependent manner.
messages: Proton-sensing G protein-coupled receptor.
messages: Up-regulated in prostate cancer.

9606:COX7A2L
gene id: 9606:COX7A2L
uniprot id: O14548
uniprot id: Q6FGA0
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cytochrome c oxidase VIIa family.
messages: By estrogen.
messages: Interacts with the mitochondrial respiratory supercomplex.
messages: Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity).
messages: Mitochondrion inner membrane

9606:ALPK3
gene id: 9606:ALPK3
uniprot id: Q96L96
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
messages: Involved in cardiomyocyte differentiation.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MAEA
gene id: 9606:MAEA
uniprot id: B4DQT1
uniprot id: B4DVN3
uniprot id: D6RIB6
uniprot id: Q7L5Y9
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autoubiquitinated as component of the CTLH E3 ubiquitin-protein ligase complex (in vitro).
messages: Cell membrane
messages: Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). MAEA is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis (PubMed:9763581). Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable).
messages: Cytoplasm
messages: Detected at macrophage membranes (at protein level). Ubiquitous.
messages: Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5 (PubMed:17467196, PubMed:29911972). Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles (PubMed:29911972). Interacts with F-actin (PubMed:16510120).
messages: Intron retention.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus matrix
messages: Sequence differs at N-terminus.
messages: The expected RING-type zinc finger domain is highly divergent and most of the expected Cys residues are not conserved (Probable). Still, the protein is required for CTLH complex E3 ubiquitin-protein transferase activity (PubMed:29911972). In addition, the conserved Cys-314 in this highly divergent region is required for ubiquitination by the yeast GID complex, suggesting a direct role in catalyzing ubiquitination (Probable).
messages: cytoskeleton
messages: nucleoplasm

9606:KRT38
gene id: 9606:KRT38
uniprot id: O76015
names: Miscellaneous
names: Similarity
messages: Belongs to the intermediate filament family.
messages: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

9606:RELA
gene id: 9606:RELA
uniprot id: Q04206
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with herpes virus 8 virus protein LANA1.
messages: (Microbial infection) Interacts with human cytomegalovirus protein UL44; this interaction prevents NF-kappa-B binding to its promoters.
messages: (Microbial infection) Interacts with human respiratory syncytial virus (HRSV) protein M2-1.
messages: (Microbial infection) Interacts with molluscum contagiosum virus MC132.
messages: A chromosomal aberration involving ZFTA is found in more than two-thirds of supratentorial ependymomas. Translocation with ZFTA produces a ZFTA-RELA fusion protein. ZFTA-RELA translocations are potent oncogenes that probably transform neural stem cells by driving an aberrant NF-kappa-B transcription program (PubMed:24553141).
messages: Component of the NF-kappa-B p65-p50 complex. Component of the NF-kappa-B p65-c-Rel complex. Homodimer; component of the NF-kappa-B p65-p65 complex. Component of the NF-kappa-B p65-p52 complex. May interact with ETHE1. Binds TLE5 and TLE1. Interacts with TP53BP2. Binds to and is phosphorylated by the activated form of either RPS6KA4 or RPS6KA5. Interacts with ING4 and this interaction may be indirect. Interacts with CARM1, USP48 and UNC5CL. Interacts with IRAK1BP1 (By similarity). Interacts with NFKBID (By similarity). Interacts with NFKBIA (PubMed:1493333). Interacts with GSK3B. Interacts with NFKBIB (By similarity). Interacts with NFKBIE. Interacts with NFKBIZ. Interacts with EHMT1 (via ANK repeats) (PubMed:21515635). Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, ELP1 and MAP3K14. Interacts with HDAC3; HDAC3 mediates the deacetylation of RELA. Interacts with HDAC1; the interaction requires non-phosphorylated RELA. Interacts with CBP; the interaction requires phosphorylated RELA. Interacts (phosphorylated at 'Thr-254') with PIN1; the interaction inhibits p65 binding to NFKBIA. Interacts with SOCS1. Interacts with UXT. Interacts with MTDH and PHF11. Interacts with ARRB2. Interacts with NFKBIA (when phosphorylated), the interaction is direct; phosphorylated NFKBIA is part of a SCF(BTRC)-like complex lacking CUL1. Interacts with RNF25. Interacts (via C-terminus) with DDX1. Interacts with UFL1 and COMMD1. Interacts with BRMS1; this promotes deacetylation of 'Lys-310'. Interacts with NOTCH2 (By similarity). Directly interacts with MEN1; this interaction represses NFKB-mediated transactivation. Interacts with AKIP1, which promotes the phosphorylation and nuclear retention of RELA. Interacts (via the RHD) with GFI1; the interaction, after bacterial lipopolysaccharide (LPS) stimulation, inhibits the transcriptional activity by interfering with the DNA-binding activity to target gene promoter DNA. Interacts (when acetylated at Lys-310) with BR…
messages: Cytoplasm
messages: Monomethylated at Lys-310 by SETD6 (PubMed:21515635). Monomethylation at Lys-310 is recognized by the ANK repeats of EHMT1 and promotes the formation of repressed chromatin at target genes, leading to down-regulation of NF-kappa-B transcription factor activity. Phosphorylation at Ser-311 disrupts the interaction with EHMT1 without preventing monomethylation at Lys-310 and relieves the repression of target genes (By similarity).
messages: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The heterodimeric RELA-NFKB1 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. The NF-kappa-B heterodimeric RELA-NFKB1 and RELA-REL complexes, for instance, function as transcriptional activators. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The inhibitory effect of I-kappa-B on NF-kappa-B through retention in the cytoplasm is exerted primarily through the interaction with RELA. RELA shows a weak DNA-binding site which could contribute directly to DNA binding in the NF-kappa-B complex. Beside its activity as a direct transcriptional activator, it is also able to modulate promoters accessibility to transcription factors and thereby indirectly regulate gene expression. Associates with chromatin at the NF-kappa-B …
messages: Nucleus
messages: Phosphorylation at Ser-311 disrupts the interaction with EHMT1 and promotes transcription factor activity (By similarity). Phosphorylation on Ser-536 stimulates acetylation on Lys-310 and interaction with CBP; the phosphorylated and acetylated forms show enhanced transcriptional activity. Phosphorylation at Ser-276 by RPS6KA4 and RPS6KA5 promotes its transactivation and transcriptional activities.
messages: Phosphorylation at Ser-75 by herpes simplex virus 1/HHV-1 inhibits NF-kappa-B activation.
messages: Proteolytically cleaved within a conserved N-terminus region required for base-specific contact with DNA in a CPEN1-mediated manner, and hence inhibits NF-kappa-B transcriptional activity (PubMed:18212740).
messages: Reversibly acetylated; the acetylation seems to be mediated by CBP, the deacetylation by HDAC3 and SIRT2. Acetylation at Lys-122 enhances DNA binding and impairs association with NFKBIA. Acetylation at Lys-310 is required for full transcriptional activity in the absence of effects on DNA binding and NFKBIA association. Acetylation at Lys-310 promotes interaction with BRD4. Acetylation can also lower DNA-binding and results in nuclear export. Interaction with BRMS1 promotes deacetylation of Lys-310. Lys-310 is deacetylated by SIRT2.
messages: S-nitrosylation of Cys-38 inactivates the enzyme activity.
messages: Sulfhydration at Cys-38 mediates the anti-apoptotic activity by promoting the interaction with RPS3 and activating the transcription factor activity.
messages: Sumoylation by PIAS3 negatively regulates DNA-bound activated NF-kappa-B.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: The transcriptional activation domain 1/TA1 and the transcriptional activation domain 2/TA2 have direct transcriptional activation properties (By similarity). The 9aaTAD motif found within the transcriptional activation domain 2 is a conserved motif present in a large number of transcription factors that is required for their transcriptional transactivation activity (PubMed:17467953).
messages: The transcriptional activation domain 3/TA3 does not participate in the direct transcriptional activity of RELA but is involved in the control by RELA of the accessibility of target gene promoters. Mediates interaction with ZBTB7A.
messages: Ubiquitinated by RNF182, leading to its proteasomal degradation. Degradation is required for termination of NF-kappa-B response.

9606:GNB1L
gene id: 9606:GNB1L
uniprot id: Q9BYB4
names: Tissue Specificity
messages: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.

9606:E2F6
gene id: 9606:E2F6
uniprot id: A0A0S2Z3K8
uniprot id: O75461
uniprot id: Q53YM3
uniprot id: Q6Q9Z5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the E2F/DP family.
messages: Expressed in all tissues examined. Highest levels in placenta, skeletal muscle, heart, ovary, kidney, small intestine and spleen.
messages: Forms heterodimers with DP family members TFDP1 or TFDP2 (PubMed:9704927). Component of the DRTF1/E2F transcription factor complex (PubMed:12004135). Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2 (PubMed:12004135). Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10 (PubMed:15960975).
messages: Inhibitor of E2F-dependent transcription (PubMed:9689056, PubMed:9704927, PubMed:9501179). Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' (PubMed:9501179). Has a preference for the 5'-TTTCCCGC-3' E2F recognition site (PubMed:9501179). E2F6 lacks the transcriptional activation and pocket protein binding domains (PubMed:9704927, PubMed:9501179). Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression (PubMed:9689056, PubMed:9501179). Represses expression of some meiosis-specific genes, including SLC25A31/ANT4 (By similarity). May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overexpression delays the exit of cells from the S-phase (PubMed:9501179).
messages: Nucleus

9606:RELN
gene id: 9606:RELN
uniprot id: P78509
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A polymorphic GGC triplet repeat located in the 5'-UTR region of RELN gene, which harbors in the normal population 8 to 10 repeats, is significantly increased in autistic patients to carry 4 to 23 additional repeats.
messages: Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Expression is reduced to about 50% in patients with schizophrenia. Also expressed in fetal and adult liver.
messages: Belongs to the reelin family.
messages: Expressed in fetal and postnatal brain and liver. Expression in postnatal human brain is high in the cerebellum.
messages: Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity).
messages: Oligomer of disulfide-linked homodimers. Binds to the ectodomains of VLDLR and LRP8/APOER2 (By similarity).
messages: The basic C-terminal region is essential for secretion.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular matrix

9606:ODAD4
gene id: 9606:ODAD4
uniprot id: Q96NG3
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Plays an essential role for the assembly of ODA-DC and for the docking of ODA in ciliary axoneme.
messages: Component of the outer dynein arm-docking complex along with ODAD1, ODAD2 and ODAD3. Interacts with ODAD1; this interaction may facilitate the recruitment and/or attachment of outer dynein arm docking complex proteins, including ODAD1, ODAD3 and ODAD2, to ciliary axonemes (PubMed:27486780). Interacts with components of the IFT complex A, including IFT140, TTC21B/IFT139 and WDR19/IFT144, and the IFT complex B, including IFT46, IFT52 and IFT57 (PubMed:25860617).
messages: Expressed in the nasal mucosa (at protein level).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium axoneme

9606:SNRPB
gene id: 9606:SNRPB
uniprot id: P14678
uniprot id: Q66K91
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the snRNP SmB/SmN family.
messages: Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:10025403, PubMed:19325628, PubMed:21516107, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Most spliceosomal snRNPs contain a common set of Sm proteins, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (PubMed:10025403, PubMed:19325628, PubMed:21516107, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of the U1 snRNP (PubMed:19325628, PubMed:25555158). The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C (PubMed:19325628, PubMed:25555158). Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 (PubMed:26912367). Component of the U7 snRNP complex, or U7 Sm protein core complex, that is composed of the U7 snRNA and at least LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF and SNRPG; the complex does not contain SNRPD1 and SNRPD2 (PubMed:11574479, PubMed:12975319). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly (PubMed:12095920, PubMed:18984161, PubMed:16314521). Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF an…
messages: Methylated by PRMT5 (By similarity). Arg-108 and Arg-112 are dimethylated, probably to asymmetric dimethylarginine (PubMed:16087681, Ref.10).
messages: Nucleus
messages: Patients with the autoimmune disease systemic lupus erythematosus (SLE) have autoantibodies directed against some of the individual snRNP polypeptides. The most common autoantigen is called Sm. B/b' bear Sm epitopes.
messages: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (PubMed:12975319).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol

9606:CCDC93
gene id: 9606:CCDC93
uniprot id: Q567U6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) The CCC complex, in collaboration with the heterotrimeric retriever complex, mediates the exit of human papillomavirus to the cell surface.
messages: Belongs to the CCDC93 family.
messages: Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1 (PubMed:28892079, PubMed:25355947). Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes and is dependent on its interaction with WASHC2C (PubMed:25355947).
messages: Early endosome
messages: Interacts with COMMD1, COMMD2 COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD9, COMMD10, WASHC1. Interacts directly with WASHC2C (PubMed:25355947). Interacts with CCDC93; proposed to be a component of the CCC (COMMD/CCDC22/CCDC93) complex which contains at least COMMD1 (and possibly other COMM domain-containing proteins), CCDC22 and CCDC93; in the complex interacts directly with CCDC22 (Probable). Interacts with VPS35L; associates with the retriever complex (PubMed:25355947). Interacts with SNX17 and SNX31 (PubMed:28892079).

9606:METTL4
gene id: 9606:METTL4
uniprot id: J3KNJ7
uniprot id: Q8N3J2
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the MT-A70-like family.
messages: Mitochondrion matrix
messages: N(6)-adenine-specific methyltransferase that can methylate both RNAs and DNA (PubMed:31913360, PubMed:32183942). Acts as a N(6)-adenine-specific RNA methyltransferase by catalyzing formation of N6,2'-O-dimethyladenosine (m6A(m)) on internal positions of U2 small nuclear RNA (snRNA): methylates the 6th position of adenine residues with a pre-deposited 2'-O-methylation (PubMed:31913360). Internal m6A(m) methylation of snRNAs regulates RNA splicing (PubMed:31913360). Also able to act as a N(6)-adenine-specific DNA methyltransferase by mediating methylation of DNA on the 6th position of adenine (N(6)-methyladenosine) (PubMed:32183942). The existence of N(6)-methyladenosine (m6A) on DNA is however unclear in mammals, and additional evidences are required to confirm the role of the N(6)-adenine-specific DNA methyltransferase activity of METTL4 in vivo (PubMed:32203414). Acts as a regulator of mitochondrial transcript levels and mitochondrial DNA (mtDNA) copy number by mediating mtDNA N(6)-methylation: m6A on mtDNA reduces transcription by repressing TFAM DNA-binding and bending (PubMed:32183942). N(6)-methyladenosine deposition by METTL4 regulates Polycomb silencing by triggering ubiquitination and degradation of sensor proteins ASXL1 and MPND, leading to inactivation of the PR-DUB complex and subsequent preservation of Polycomb silencing (By similarity).
messages: Nucleus
messages: The existence of N(6)-methyladenosine on DNA is unclear in mammals (PubMed:32203414). According to a report, the majority of N(6)-methyladenosine in DNA originates from RNA catabolism via a nucleotide salvage pathway and is misincorporated by DNA polymerases, arguing against a role as epigenetic DNA mark in mammalian cells (PubMed:32203414). Additional evidences are therefore required to confirm the role of METTL4 as a N(6)-adenine-specific DNA methyltransferase in vivo (PubMed:32203414).
messages: cytosol

9606:CAPN6
gene id: 9606:CAPN6
uniprot id: Q9Y6Q1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C2 family.
messages: Expressed only in placenta.
messages: Interacts (via domain III) with microtubules. Interacts (via domain II) with ARHGEF2 (via the N-terminal zinc finger).
messages: Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity).
messages: perinuclear region
messages: spindle

9606:FKBP14
gene id: 9606:FKBP14
uniprot id: Q9NWM8
names: Activity Regulation
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Endoplasmic reticulum lumen
messages: Inhibited by tacrolimus/FK506.
messages: Monomer (PubMed:24821723, PubMed:24272907). Homodimer (PubMed:24821723, PubMed:24272907). Interacts with type III, type IV and type X collagens (PubMed:24821723).
messages: PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:LPAR5
gene id: 9606:LPAR5
uniprot id: Q5KU18
uniprot id: Q9H1C0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Not expressed in frontal cortex, basal forebrain, caudate putamen, thalamus, or hippocampus.
messages: Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities.

9606:LIPM
gene id: 9606:LIPM
uniprot id: Q5VYY2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the AB hydrolase superfamily. Lipase family.
messages: Exclusively expressed in the epidermis within the granular keratinocytes.
messages: Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.
messages: Secreted

9606:LRRC74A
gene id: 9606:LRRC74A
uniprot id: Q0VAA2
names: Caution
messages: It is uncertain whether Met-1 or Met-27 is the initiator.

9606:SIVA1
gene id: 9606:SIVA1
uniprot id: O15304
names: Cofactor
names: Function
names: Miscellaneous
names: PTM
names: Pharmaceutical
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with coxsackievirus B3 capsid protein VP2; this interaction inhibits the binding of SIVA1 to CD27.
messages: Binds through its N-terminal region to the C-terminus of CD27 and to PXMP2/PMP22. Binds to the C-terminus of TNFRSF18/GITR. Isoform 1 binds to BCL2L1/BCLX isoform Bcl-x(L) but not to BAX.
messages: Could be used as a potentiator of cisplatin-based chemotherapy. Enhances cisplatin-mediated apoptosis, even under conditions where cisplatin resistance occurs due to elevated levels of BCL2 or BCL2L1.
messages: Cytoplasm
messages: Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl-x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis.
messages: Isoform 1 binds 3 Zn(2+) ions.
messages: Isoform 2 binds 2 Zn(2+) ions.
messages: Mouse isoform 2 has been shown (PubMed:9177220) to have no pro-apoptotic activity. However, human isoform 2 has been shown to be capable of inducing apoptosis (PubMed:15034012).
messages: Nucleus
messages: Phosphorylated by ABL2/ARG in response to oxidative stress.
messages: Ubiquitous. Mostly expressed in thymus, testis, ovary, prostate, small intestine and spleen and less in colon.

9606:C1orf56
gene id: 9606:C1orf56
uniprot id: Q9BUN1
names: Function
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Involved in control of cellular proliferation. Onconcogenic modifier contributing to the tumor suppressor function of DNMT3B.
messages: Phosphorylation sites are present in the extracellular medium.
messages: Plasma. Overexpressed in lymphomas.
messages: Secreted

9606:DHX37
gene id: 9606:DHX37
uniprot id: Q8IY37
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis (PubMed:30582406). Required for the release of the U3 snoRNP from pre-ribosomal particles (PubMed:30582406). Plays a role in early testis development (PubMed:31287541, PubMed:31337883). Probably also plays a role in brain development (PubMed:31256877).
messages: Belongs to the DEAD box helicase family. DEAH subfamily.
messages: Cytoplasm
messages: Expressed in the fallopian tube, ovary, uterus and testis. Also expressed in the brain.
messages: Interacts with UTP14A.
messages: Nucleus membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: nucleolus

9606:HTR3C
gene id: 9606:HTR3C
uniprot id: Q8WXA8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3C sub-subfamily.
messages: Cell membrane
messages: Expressed in many tissues including adult brain, colon, intestine, lung, muscle and stomach as well as fetal colon and kidney.
messages: Forms a pentaheteromeric complex with HTR3A. Not functional as a homomeric complex.
messages: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel.

9606:PDE11A
gene id: 9606:PDE11A
uniprot id: Q9HCR9
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the cyclic nucleotide phosphodiesterase family.
messages: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.
messages: Inhibited by 3-isobutyl-1-methylxanthine (IBMX), zaprinast and dipyridamole. cGMP acts as an allosteric activator. Weakly inhibited by Sildenafil (Viagra) and Tadalafil (Cialis); however, the fact that the protein is probably absent from testis, suggests that it is not biologically relevant and is not related with erectile dysfunction.
messages: Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level). Isoform 2 may be expressed in testis. Isoform 4 is expressed in adrenal cortex.
messages: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP (PubMed:10725373, PubMed:10906126, PubMed:11050148, PubMed:16330539). Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively (PubMed:10725373, PubMed:10906126, PubMed:11050148).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The tandem GAF domains bind cGMP, and regulate enzyme activity. The binding of cGMP stimulates enzyme activity.
messages: cytosol

9606:MSMP
gene id: 9606:MSMP
uniprot id: Q1L6U9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:24442440). Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:24442440). Exhibits a chemotactic activity for monocytes and lymphocytes but not neutrophils (PubMed:24442440).
messages: Belongs to the beta-microseminoprotein family.
messages: Detected in prostate epithelium (at protein level) (PubMed:17338636). Detected in trachea and testis (PubMed:17338636). Highly expressed in benign prostatic hyperplasia and in some prostate cancers, and can also be detected in breast tumor tissue (PubMed:17338636, PubMed:24442440).
messages: Secreted

9606:FAM110D
gene id: 9606:FAM110D
uniprot id: Q8TAY7
names: Similarity
messages: Belongs to the FAM110 family.

9606:RBM42
gene id: 9606:RBM42
uniprot id: Q9BTD8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RRM RBM42 family.
messages: Binds (via the RRM domain) to the 3'-untranslated region (UTR) of CDKN1A mRNA.
messages: Cytoplasm
messages: Interacts with HNRNPK.
messages: Nucleus

9606:IL22
gene id: 9606:IL22
uniprot id: A0A7R8C389
uniprot id: Q9GZX6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the IL-10 family.
messages: Cytokine that plays a critical role in modulating tissue responses during inflammation (PubMed:17204547). Plays an essential role in the regeneration of epithelial cells to maintain barrier function after injury and for the prevention of further tissue damage (PubMed:17204547). Unlike most of the cytokines, has no effect on immune cells. Signals through a heterodimeric receptor composed of two subunits, the specific receptor IL22RA1 which is present on non-immune cells in many organs and the shared subunit IL10RB (PubMed:10875937, PubMed:18599299). Ligation of IL22RA1 with IL22 induces activation of the tyrosine kinases JAK1 and TYK2, which in turn activates STAT3. In turn, promotes cell survival and proliferation through STAT3, ERK1/2 and PI3K/AKT pathways (PubMed:25793261, PubMed:31311100).
messages: Secreted

9606:C7orf25
gene id: 9606:C7orf25
uniprot id: Q9BPX7
names: Similarity
messages: Belongs to the UPF0415 family.

9606:LCA5L
gene id: 9606:LCA5L
uniprot id: O95447
names: Similarity
messages: Belongs to the LCA5 family.

9606:FOXJ2
gene id: 9606:FOXJ2
uniprot id: Q9P0K8
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Nucleus
messages: Transcriptional activator.
messages: Transcriptional activator. Able to bind to two different type of DNA binding sites. More effective than isoform FOXJ2.S in transcriptional activation (PubMed:10777590, PubMed:10966786). Plays an important role in spermatogenesis, especially in spermatocyte meiosis (By similarity).
messages: Widely expressed.

9606:SIL1
gene id: 9606:SIL1
uniprot id: Q9H173
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SIL1 family.
messages: Endoplasmic reticulum lumen
messages: Expressed in fetal kidney, fetal lung, fetal liver and at low levels in fetal brain.
messages: Highly expressed in tissues which produce large amounts of secreted proteins such as kidney, liver and placenta. Also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen and thymus. Expressed at low levels throughout the brain.
messages: Interacts with HSPA5.
messages: N-glycosylated.
messages: Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by the CRL2(FEM1A) and CRL2(FEM1C) complexes, which recognize the -Lys-Xaa-Xaa-Arg C-degron at the C-terminus, leading to its degradation.

9606:EIF2AK3
gene id: 9606:EIF2AK3
uniprot id: A0A804HIT4
uniprot id: B3KY45
uniprot id: Q68DI6
uniprot id: Q9NZJ5
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ADP-ribosylated by PARP16 upon ER stress, which increases kinase activity.
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily.
messages: By endoplasmic reticulum stress.
messages: Endoplasmic reticulum membrane
messages: Forms dimers with HSPA5/BIP in resting cells (By similarity). Oligomerizes in ER-stressed cells (By similarity). Interacts with DNAJC3 and MFN2 (By similarity). Interacts with TMEM33 (PubMed:26268696). Interacts with PDIA6 (PubMed:24508390). Interacts with LACC1 (PubMed:31875558).
messages: Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions. Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as unfolded protein response (UPR) and low amino acid availability (By similarity). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming (PubMed:33384352). Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1). Involved in control of mitochondrial morphology and function (By similarity).
messages: N-glycosylated.
messages: Oligomerization of the N-terminal ER luminal domain by ER stress promotes PERK trans-autophosphorylation of the C-terminal cytoplasmic kinase domain at multiple residues including Thr-982 on the kinase activation loop (By similarity). Autophosphorylated. Phosphorylated at Tyr-619 following endoplasmic reticulum stress, leading to activate its tyrosine-protein kinase activity. Dephosphorylated by PTPN1/TP1B, leading to inactivate its enzyme activity.
messages: Perturbation in protein folding in the endoplasmic reticulum (ER) promotes reversible dissociation from HSPA5/BIP and oligomerization, resulting in transautophosphorylation and kinase activity induction.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The lumenal domain senses perturbations in protein folding in the ER, probably through reversible interaction with HSPA5/BIP.
messages: Ubiquitous. A high level expression is seen in secretory tissues.

9606:FAM120A
gene id: 9606:FAM120A
uniprot id: Q9NZB2
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Arg-982 is dimethylated, probably to asymmetric dimethylarginine.
messages: Belongs to the constitutive coactivator of PPAR-gamma family.
messages: Cell membrane
messages: Cytoplasm
messages: Interacts with PURA (By similarity). Interacts with YES1, SRC, FYN. Upon tyrosine phosphorylation, interacts with PIK3R1.
messages: May participate in mRNA transport in the cytoplasm (By similarity). Critical component of the oxidative stress-induced survival signaling. Activates src family kinases and acts as a scaffolding protein enabling src family kinases to phosphorylate and activate PI3-kinase. Binds RNA and promotes the secretion of IGF-II. May play a pivotal role in the progression of scirrhous-type gastric cancer by supporting cancer cell survival in environments with various oxidative stresses.
messages: Phosphorylated on tyrosine by src family kinases upon ultraviolet exposure.
messages: Ubiquitously expressed. Highly expressed in scirrhous-type gastric cancer tissues compared with normal gastric mucosa (at protein level).

9606:AP5B1
gene id: 9606:AP5B1
uniprot id: Q2VPB7
names: Function
names: Sequence Caution
names: Subunit
messages: As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport.
messages: Probably part of the adaptor protein complex 5 (AP-5), a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11.
messages: Sequencing errors.

9606:TPP1
gene id: 9606:TPP1
uniprot id: O14773
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by autocatalytic proteolytical processing upon acidification (PubMed:11054422, PubMed:19038966, PubMed:19038967). N-glycosylation is required for processing and activity (PubMed:19038966, PubMed:19038967).
messages: Binds 1 Ca(2+) ion per subunit.
messages: Detected in all tissues examined with highest levels in heart and placenta and relatively similar levels in other tissues.
messages: Incorrectly indicated as originating from bovine.
messages: Inhibited by diisopropyl fluorophosphate (DFP).
messages: Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (PubMed:11054422, PubMed:19038966, PubMed:19038967). Requires substrates with an unsubstituted N-terminus (PubMed:19038966).
messages: Lysosome
messages: Melanosome
messages: Monomer (PubMed:19038967). Interacts with CLN5 (PubMed:19941651). Interacts with CLN3 (PubMed:17237713).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:RAB20
gene id: 9606:RAB20
uniprot id: Q9NX57
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Golgi apparatus
messages: Low or absent expression in normal pancreas and stronger expression in 15 of 18 exocrine pancreatic adenocarcinomas (at protein level).
messages: Plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes.
messages: phagosome
messages: phagosome membrane

9606:LEO1
gene id: 9606:LEO1
uniprot id: Q8WVC0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) The PAF1 complex interacts with Dengue virus DENV2 16681 non-structural protein 5/NS5 (PubMed:30550790). The PAF1 complex interacts with Dengue virus DENV4 Dominica/814669/1981 non-structural protein 5/NS5 (PubMed:30550790). The interaction with viral NS5 proteins may reduce the antiviral immune response by inhibiting the recruitment of the PAF1 complex to interferon-stimulated genes, thus preventing their transcription (PubMed:30550790).
messages: (Microbial infection) The PAF1 complex interacts with Zika virus French Polynesia 10087PF/2013 non-structural protein 5/NS5 (PubMed:30550790). The interaction with viral NS5 proteins may reduce the antiviral immune response by inhibiting the recruitment of the PAF1 complex to interferon-stimulated genes, thus preventing their transcription (PubMed:30550790).
messages: Belongs to the LEO1 family.
messages: Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Involved in polyadenylation of mRNA precursors. Connects PAF1C to Wnt signaling.
messages: Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and SKIC8 (PubMed:15632063, PubMed:19952111, PubMed:20178742). The PAF1 complex interacts with PHF5A (By similarity). Interacts with TCEA1, SUPT5H and CTNNB1 (PubMed:16630820, PubMed:19952111, PubMed:20178742). Interacts with SETD5 (By similarity).
messages: Highly expressed in skeletal muscle and heart. Weakly expressed in placenta and liver.
messages: Nucleus

9606:TAFAZZIN
gene id: 9606:TAFAZZIN
uniprot id: A0A0S2Z4E6
uniprot id: A0A0S2Z4F4
uniprot id: A0A0S2Z4K0
uniprot id: A0A0S2Z4K9
uniprot id: A0A494C0C5
uniprot id: A0A499FJ53
uniprot id: A6XNE1
uniprot id: Q16635
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary for adequate mitochondrial function (PubMed:12930833, PubMed:19700766, PubMed:19164547, PubMed:26908608, PubMed:33096711). Its role in cellular physiology is to improve mitochondrial performance (PubMed:32234310). CL is critical for the coassembly of lipids and proteins in mitochondrial membranes, for instance, remodeling of the acyl groups of CL in the mitochondrial inner membrane affects the assembly and stability of respiratory chain complex IV and its supercomplex forms (By similarity). Catalyzes the transacylacion between phospholipids and lysophospholipids, with the highest rate being between phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) and CL. Catalyzes both 1-acyl-sn-glycero-3-phosphocholine (lysophosphatidylcholine or LPC) reacylation and PC-CL transacylation, that means, it exchanges acyl groups between CL and PC by a combination of forward and reverse transacylations. Also catalyzes transacylations between other phospholipids such as phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) and CL, between PC and PE, and between PC and phosphatidate (1,2-diacyl-sn-glycero-3-phosphate or PA), although at lower rate. Not regiospecific, it transfers acyl groups into any of the sn-1 and sn-2 positions of the monolysocardiolipin (MLCL), which is an important prerequisite for uniformity and symmetry in CL acyl distribution. Cannot transacylate dilysocardiolipin (DLCL), thus, the role of MLCL is limited to that of an acyl acceptor. CoA-independent, it can reshuffle molecular species within a single phospholipid class. Redistributes fatty acids between MLCL, CL, and other lipids, which prolongs the half-life of CL. Its action is completely reversible, which allows for cyclic changes, such a…
messages: Acyltransferase which is required to remodel newly synthesized phospholipid cardiolipin, a key component of the mitochondrial inner membrane. Required for the initiation of mitophagy. Required to ensure progression of spermatocytes through meiosis.
messages: Associates with multiple protein complexes.
messages: Belongs to the taffazin family.
messages: Catalytically inactive.
messages: Catalyzes the transacylation between lysophosphatidate (such as 1-acyl-sn-glycero-3-phosphate) and phosphatidylglycerol (1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycerol)) (PubMed:19700766). Contributes to cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) remodeling (PubMed:12930833, PubMed:19700766).
messages: Catalyzes the transacylation between lysophospholipids and phospholipids, and plays a fundamental role in cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) metabolism and remodeling.
messages: Cytoplasm
messages: High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.
messages: Mitochondrion inner membrane
messages: Mitochondrion membrane
messages: Mitochondrion outer membrane
messages: The HXXXXD motif is essential for acyltransferase activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The enzyme was named after a masochistic character Tafazzi, once popular on Italian television, apparently due to the difficulty encountered for its identification and characterization.

9606:NXF2
gene id: 9606:NXF2
uniprot id: Q9GZY0
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NXF family.
messages: Cytoplasm
messages: Expressed almost exclusively in testis. Also expressed in several cancers.
messages: Interacts with NXT1, NXT2, E1B-AP5, the REF proteins and with nucleoporins, Nup62, Nup153 and Nup214. Interacts with LUZP4.
messages: Involved in the export of mRNA from the nucleus to the cytoplasm.
messages: The C-terminal fragment, containing the TAP domain (also called UBA-like domain) and part of the NTF2-like domain, named the NPC-binding domain, mediates direct interactions with nucleoporin-FG-repeats and is necessary and sufficient for localization of NXF2 to the nuclear rim.
messages: The NTF2 domain heterodimerizes with NXT1 and NXT2. The formation of NXF1/NXT1 heterodimers is required for NXF2-mediated nuclear mRNA export.
messages: The RNA-binding domain is a non-canonical RNP-type domain.
messages: The leucine-rich repeats and the NTF2-domain are essential for the export of mRNA from the nucleus.
messages: The sequence differs from that shown due to either intron retention or a splicing event.
messages: nucleoplasm

9606:NAA11
gene id: 9606:NAA11
uniprot id: Q9BSU3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the acetyltransferase family. ARD1 subfamily.
messages: Component of the N-terminal acetyltransferase A (NatA) complex composed of NAA11 and NAA15 (Probable). Interacts with HIF1A.
messages: Cytoplasm
messages: Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex.
messages: Nucleus
messages: Present in several cell lines, with highest levels in MCF-7 cells (at protein level).

9606:SLC2A11
gene id: 9606:SLC2A11
uniprot id: Q9BYW1
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
messages: Cell membrane
messages: Expressed in heart and skeletal muscle.
messages: Facilitative glucose transporter.
messages: Has been described as GLUT10 in literature, but this gene name has already been used for SLC2A10.

9606:PHYHD1
gene id: 9606:PHYHD1
uniprot id: Q5SRE7
names: Activity Regulation
names: Function
names: Similarity
messages: 2-oxoglutarate(2OG)-dependent dioxygenase that catalyzes the conversion of 2-oxoglutarate to succinate and CO(2) in an iron-dependent manner (PubMed:21530488). However, does not couple 2OG turnover to the hydroxylation of acyl-coenzyme A derivatives, implying that it is not directly involved in phytanoyl coenzyme-A metabolism (PubMed:21530488). Does not show detectable activity towards fatty acid CoA thioesters (PubMed:21530488).
messages: Activity is increased by ascorbate. Inhibited by myristoyl-CoA.
messages: Belongs to the PhyH family. PHYHD1 subfamily.
messages: Isoform 2 probably lacks enzyme activity.
messages: Isoform 3 probably lacks enzyme activity.

9606:CDRT4
gene id: 9606:CDRT4
uniprot id: Q8N9R6
names: Tissue Specificity
messages: Expressed in fetal skeletal muscle and kidney.

9606:SLTM
gene id: 9606:SLTM
uniprot id: Q9NWH9
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
messages: Contaminating sequence. Potential poly-A sequence.
messages: Nucleus
messages: When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis.

9606:POLE2
gene id: 9606:POLE2
uniprot id: P56282
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).
messages: Belongs to the DNA polymerase epsilon subunit B family.
messages: Component of the DNA polymerase epsilon complex consisting of four subunits: the catalytic subunit POLE and the accessory subunits POLE2, POLE3 and POLE4.
messages: In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis.
messages: Nucleus

9606:PGM2
gene id: 9606:PGM2
uniprot id: Q96G03
names: Activity Regulation
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the phosphohexose mutase family.
messages: Binds 1 Mg(2+) ion per subunit.
messages: Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. Catalyzes the interconversion of glucose-1-phosphate into glucose-6-phosphate but with a lower catalytic efficiency (PubMed:17804405). In vitro, has also a low glucose 1,6-bisphosphate synthase activity which is most probably not physiologically relevant (PubMed:17804405, PubMed:18927083).
messages: The phosphomutase activity is stimulated by glucose 1,6-bisphosphate.
messages: cytosol

9606:USP44
gene id: 9606:USP44
uniprot id: A0A024RBD7
uniprot id: Q9H0E7
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase C19 family.
messages: Belongs to the peptidase C19 family. USP44 subfamily.
messages: Dephosphorylated by CTDP1.
messages: Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts as a negative regulator of histone H2B (H2BK120ub1) ubiquitination.
messages: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.
messages: Elevated in mitosis; levels increase in mitotic cells and rapidly decrease once cells have completed chromosome attachment and exit from mitosis.
messages: Expressed in testis. Expressed at high levels in T-cell acute lymphoblastic leukemia.
messages: Nucleus
messages: Transcriptionally regulated by POU5F1/OCT4 in embryonic stem cells and embryonal carcinoma cells.
messages: Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination and is degraded by the proteasome.

9606:NOC4L
gene id: 9606:NOC4L
uniprot id: Q9BVI4
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CBF/MAK21 family.
messages: Nucleus membrane
messages: nucleolus

9606:COL26A1
gene id: 9606:COL26A1
uniprot id: Q96A83
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Homotrimer or heterotrimer.
messages: Hydroxylated on proline residues.
messages: May be due to a competing acceptor splice site.
messages: extracellular matrix

9606:CASP7
gene id: 9606:CASP7
uniprot id: A0A0A0MRL7
uniprot id: B4DWA2
uniprot id: P55210
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) ADP-riboxanation by C.violaceum CopC blocks CASP7 processing, preventing CASP7 activation and ability to recognize and cleave substrates.
messages: Belongs to the peptidase C14A family.
messages: Cleavage by different proteases, such as granzyme B (GZMB), caspase-1 (CASP1), caspase-8 (CASP8), caspase-9 (CASP9) or caspase-10 (CASP10) generate the two active subunits (PubMed:9852092, PubMed:12824163, PubMed:16352606, PubMed:16916640, PubMed:35338844, PubMed:35446120). Its involvement in different programmed cell death processes is probably specified by the protease that activates CASP7 (PubMed:9852092, PubMed:16916640). Cleaved and activated by initiator caspases (CASP8, CASP9 and/or CASP10), leading to execution phase of apoptosis (PubMed:16352606, PubMed:16916640, PubMed:21555521, PubMed:27889207). Cleavage and maturation by GZMB regulates granzyme-mediated programmed cell death (By similarity). Cleaved and activated by CASP1 in response to bacterial infection (By similarity). Propeptide domains can also be cleaved efficiently by CASP3 (PubMed:8755496). Active heterodimers between the small subunit of caspase-7 and the large subunit of CASP3, and vice versa, also occur (PubMed:8755496). Also cleaved at the N-terminus at alternative sites by CAPN1, leading to its activation (PubMed:19617626).
messages: During activation, the N-terminal disordered prodomain is removed by cleavage (PubMed:12824163, PubMed:16916640). Concomitantly, double cleavage gives rise to a large Caspase-7 subunit p20 and a small Caspase-7 subunit p11 (PubMed:16916640). The two large and two small subunits then assemble to form the active CASP7 complex (PubMed:16916640). Can be cleaved and activated by different caspases, depending on the context (PubMed:16916640). Cleaved and activated by initiator caspases (CASP8, CASP9 and/or CASP10), leading to execution phase of apoptosis (PubMed:16352606, PubMed:16916640). Inhibited by XIAP, which directly binds to the active site pocket and obstructs substrate entry (PubMed:16352606, PubMed:16916640, PubMed:11257230, PubMed:11257231). Cleavage and maturation by GZMB regulates granzyme-mediated programmed cell death (By similarity). Cleavage and maturation by CASP1 regulates pyroptosis (By similarity). Phosphorylation at Ser-30 and Ser-239 by PAK2 inhibits its activity (PubMed:21555521, PubMed:27889207). Inhibited by isatin sulfonamides (PubMed:10821855). Inhibited by 2-(2,4-Dichlorophenoxy)- N-(2-mercapto-ethyl)-acetamide (DICA) and 5-Fluoro-1H-indole-2- carboxylic acid (2-mercapto-ethyl)-amide (FICA) allosteric inhibitors, which disrupt an interaction between Arg-187 and Tyr-223 (PubMed:15314233, PubMed:19581639). Specifically inhibited by DARPin D7.18 and D7.43, which specifically bind to the precursor CASP7 and prevent its processing and activation (PubMed:24779913).
messages: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 20 kDa (p20) and a 11 kDa (p11) subunit (PubMed:16916640, PubMed:20566630, PubMed:11701129, PubMed:11752425). Interacts with XIAP (via its second BIR domain); inhibiting CASP7 activity (PubMed:16916640, PubMed:11257230, PubMed:11257231). Interacts with BIRC6/bruce (PubMed:15200957). Interacts with ATXN3 (short isoform 1) (PubMed:30455355). Interacts with HSPA5 (PubMed:26045166).
messages: Highly expressed in lung, skeletal muscle, liver, kidney, spleen and heart, and moderately in testis. No expression in the brain.
messages: Lacks enzymatic activity.
messages: Nucleus
messages: Phosphorylation at Ser-30 and Ser-239 by PAK2 inhibits its activity (PubMed:21555521, PubMed:27889207). Phosphorylation at Ser-30 prevents cleavage and activation by initiator caspase CASP9, while phosphorylation at Ser-239 prevents thiol protease activity by preventing substrate-binding (PubMed:21555521, PubMed:27889207).
messages: The exosite polybasic region mediates non-specific RNA-binding, acting as a bridge for RNA-binding target proteins, such as PARP1 (PubMed:22451931, PubMed:31586028, PubMed:34156061). The exosite is also required for interaction with non-RNA-binding proteins, such as Hsp90 co-chaperone PTGES3 (PubMed:34156061).
messages: Thiol protease involved in different programmed cell death processes, such as apoptosis, pyroptosis or granzyme-mediated programmed cell death, by proteolytically cleaving target proteins (PubMed:8521391, PubMed:8567622, PubMed:8576161, PubMed:9070923, PubMed:16916640, PubMed:17646170, PubMed:18723680, PubMed:19581639, PubMed:11257230, PubMed:11257231, PubMed:11701129, PubMed:15314233). Has a marked preference for Asp-Glu-Val-Asp (DEVD) consensus sequences, with some plasticity for alternate non-canonical sequences (PubMed:12824163, PubMed:19581639, PubMed:20566630, PubMed:15314233, PubMed:17697120, PubMed:23897474, PubMed:23650375, PubMed:27032039). Its involvement in the different programmed cell death processes is probably determined by upstream proteases that activate CASP7 (By similarity). Acts as an effector caspase involved in the execution phase of apoptosis: following cleavage and activation by initiator caspases (CASP8, CASP9 and/or CASP10), mediates execution of apoptosis by catalyzing cleavage of proteins, such as CLSPN, PARP1, PTGES3 and YY1 (PubMed:10497198, PubMed:16123041, PubMed:16374543, PubMed:16916640, PubMed:18723680, PubMed:20566630, PubMed:21555521, PubMed:22184066, PubMed:22451931, PubMed:28863261, PubMed:31586028, PubMed:34156061, PubMed:27889207, PubMed:35338844, PubMed:35446120). Compared to CASP3, acts as a minor executioner caspase and cleaves a limited set of target proteins (PubMed:18723680). Acts as a key regulator of the inflammatory response in response to bacterial infection by catalyzing cleavage and activation of the sphingomyelin phosphodiesterase SMPD1 in the extracellular milieu, thereby promoting membrane repair (PubMed:21157428). Regulates pyroptosis in intestinal epithelial cells: cleaved and activated by CASP1 in response to S.typhimurium infection, promoting its secretion to the extracellular milieu, where it catalyzes activation of SMPD1, generating ceramides that repair membranes and counteract the action of gasdermin-D…
messages: cytosol
messages: extracellular space

9606:LYPD6
gene id: 9606:LYPD6
uniprot id: Q86Y78
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a modulator of nicotinic acetylcholine receptors (nAChRs) function in the brain (PubMed:27344019, PubMed:34631692). Inhibits nicotine-induced Ca(2+) influx through nAChRs (PubMed:27344019). In vitro, specifically inhibits alpha-3:beta-4 and alpha-7 nAChR currents in an allosteric manner (PubMed:34631692). Acts as a positive regulator of Wnt/beta-catenin signaling (By similarity).
messages: Cell membrane
messages: Cytoplasm
messages: Detected in the temporal cortex (at protein level) (PubMed:25680266). Ubiquitous (PubMed:19653121). Highly expressed in brain and heart (PubMed:19653121).
messages: Interacts with nicotinic acetylcholine receptors (nAChRs) including CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2 and CHRNB4 (PubMed:27344019). Interacts (via NxI motif) with LRP6 (PubMed:30069874).
messages: Membrane raft
messages: Perikaryon
messages: Secreted
messages: The UPAR/Ly6 domain is sufficient for inhibiting alpha-3:beta-4 and alpha-7-dependent nAChR currents.
messages: dendrite
messages: synaptosome

9606:ZNF512B
gene id: 9606:ZNF512B
uniprot id: Q96KM6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:TNIP1
gene id: 9606:TNIP1
uniprot id: Q15025
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Shigella flexneri ipah9.8; the interaction promotes polyubiquitination of IKBKG.
messages: Cytoplasm
messages: Inhibits NF-kappa-B activation and TNF-induced NF-kappa-B-dependent gene expression by regulating TAX1BP1 and A20/TNFAIP3-mediated deubiquitination of IKBKG; proposed to link A20/TNFAIP3 to ubiquitinated IKBKG (PubMed:21885437). Involved in regulation of EGF-induced ERK1/ERK2 signaling pathway; blocks MAPK3/MAPK1 nuclear translocation and MAPK1-dependent transcription. Increases cell surface CD4(T4) antigen expression. Involved in the anti-inflammatory response of macrophages and positively regulates TLR-induced activation of CEBPB. Involved in the prevention of autoimmunity; this function implicates binding to polyubiquitin. Involved in leukocyte integrin activation during inflammation; this function is mediated by association with SELPLG and dependent on phosphorylation by SRC-family kinases. Interacts with HIV-1 matrix protein and is packaged into virions and overexpression can inhibit viral replication. May regulate matrix nuclear localization, both nuclear import of PIC (Preintegration complex) and export of GAG polyprotein and viral genomic RNA during virion production. In case of infection, promotes association of IKBKG with Shigella flexneri E3 ubiquitin-protein ligase ipah9.8 p which in turn promotes polyubiquitination of IKBKG leading to its proteasome-dependent degradation and thus is perturbing NF-kappa-B activation during bacterial infection.
messages: Interacts with TNFAIP3 and IKBKG (polyubiquitinated); facilitates TNFAIP3-mediated de-ubiquitination of NEMO/IKBKG. Interacts with polyubiquitin. Interacts with MAPK1, SELPLG and PIK3CD. Interacts with IRAK1 (polyubiquitinated). Interacts with MYD88; the interaction is indicative for participation in an activated TLR-signaling complex. Interacts with HIV-1 matrix protein. Interacts with TAX1BP1 (PubMed:21885437).
messages: Less effective in the NF-kappa-B inhibitory effect.
messages: Nucleus
messages: Phosphorylation at Tyr-552 by SRC-family kinases recruits phosphoinositide-3-kinase (PI3K) PIK3CD:p85 heterodimer which results in integrin activation and leukocyte adhesion to activated endothelium during inflammation.
messages: Ubiquitous. Strongly expressed in peripheral blood lymphocytes, spleen and skeletal muscle, and is weakly expressed in the brain. In peripheral blood mononucleocytes, isoform 4 is mainly expressed and isoform 1 and isoform 7 are almost not expressed. Expression of isoform 1 and isoform 7 increases in leukemic cells.

9606:CHRM3
gene id: 9606:CHRM3
uniprot id: A0A024R3W1
uniprot id: P20309
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Basolateral cell membrane
messages: Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily.
messages: Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM3 sub-subfamily.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Homodimer; the dimers can form tetramers (PubMed:23521066). Interacts with NALCN (By similarity). Interacts with TMEM147 (PubMed:21056967).
messages: Membrane
messages: Postsynaptic cell membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover.

9606:AIFM2
gene id: 9606:AIFM2
uniprot id: Q9BRQ8
names: Activity Regulation
names: Caution
names: Cofactor
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A NAD(P)H-dependent oxidoreductase that acts as a key inhibitor of ferroptosis (PubMed:31634899, PubMed:31634900, PubMed:35922516). At the plasma membrane, catalyzes reduction of coenzyme Q/ubiquinone-10 to ubiquinol-10, a lipophilic radical-trapping antioxidant that prevents lipid oxidative damage and consequently ferroptosis (PubMed:31634899, PubMed:31634900). Acts in parallel to GPX4 to suppress phospholipid peroxidation and ferroptosis (PubMed:31634899, PubMed:31634900). This anti-ferroptotic function is independent of cellular glutathione levels (PubMed:31634899, PubMed:31634900). Also acts as a potent radical-trapping antioxidant by mediating warfarin-resistant vitamin K reduction in the canonical vitamin K cycle: catalyzes NAD(P)H-dependent reduction of vitamin K (phylloquinone, menaquinone-4 and menadione) to hydroquinone forms (PubMed:35922516). Hydroquinones act as potent radical-trapping antioxidants inhibitor of phospholipid peroxidation and ferroptosis (PubMed:35922516). May play a role in mitochondrial stress signaling (PubMed:26689472). Upon oxidative stress, associates with the lipid peroxidation end product 4-hydroxy-2-nonenal (HNE) forming a lipid adduct devoid of oxidoreductase activity, which then translocates from mitochondria into the nucleus triggering DNA damage and cell death (PubMed:26689472). Capable of DNA binding in a non-sequence specific way (PubMed:15958387).
messages: Belongs to the FAD-dependent oxidoreductase family.
messages: Binds 6-hydroxy-FAD non-covalently.
messages: Cell membrane
messages: Conflicting data exist on the pro-apoptotic function of the protein. It was initially claimed that overexpression of FSP1 induces caspase-independent apoptosis, but new evidence disputes this function.
messages: Cytoplasm
messages: Detected in most normal tissues as two transcripts of 1.8 and 4.0 kb in length, respectively. Highly expressed in heart, moderately in liver and skeletal muscles, and expressed at low levels in placenta, lung, kidney, and pancreas. Both transcripts expressed following p53/TP53 induction. The shorter 1.8 kb transcript seems to be the major transcript in EB1 colon cancer cells.
messages: Expression detected at 4 hours after induction by p53/TP53. Down-regulated in a wide range of human tumors.
messages: Interacts with importin subunits KPNA2 and IPO5; this interaction likely mediates the translocation into the nucleus upon oxidative stress.
messages: Lipid droplet
messages: Mitochondrion membrane
messages: N-myristoylation at Gly-2 mediates the recruitment to lipid droplets and plasma membrane.
messages: Nucleus
messages: The modification by 4-hydroxy-2-nonenal (HNE) adduction in mitochondria results in loss of the oxidoreductase activity and activation of a novel function in mitochondrial oxidative stress signaling.

9606:SCGB1D1
gene id: 9606:SCGB1D1
uniprot id: O95968
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the secretoglobin family. Lipophilin subfamily.
messages: Expressed in lachrymal gland, thymus, kidney, testis, ovary and salivary gland.
messages: Heterodimer of a lipophilin A and a lipophilin C (mammaglobin B) monomer associated head to head.
messages: May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones.
messages: Secreted

9606:SPESP1
gene id: 9606:SPESP1
uniprot id: Q6UW49
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SPESP1 family.
messages: Glycosylated. In testis there are two predominant forms of 77- and 67-kDa and a form of 47-kDa, whereas in epididymal sperm from caput, corpus, and cauda there are two forms of 47- and 43-kDa. Testis forms contain complex carbohydrate residues. Epididymal sperm forms are N-glycosylated. Then undergoes significant glycosylation in the testis and that the majority of these glycoconjugates are removed by the time sperm reach the caput epididymis.
messages: Highly expressed in testis, where it is localized in the acrosome of postmeiotic stages of spermiogenesis (round and elongating spermatids and in ejaculated spermatozoa) (at protein level). Poorly expressed in placenta and fetal lung.
messages: Involved in fertilization ability of sperm.
messages: acrosome

9606:B3GAT1
gene id: 9606:B3GAT1
uniprot id: Q9P2W7
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 43 family.
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Homodimer. Interacts with SAR1A.
messages: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group.
messages: Mainly expressed in the brain.
messages: Secreted
messages: The soluble form derives from the membrane form by proteolytic processing.

9606:PGAM2
gene id: 9606:PGAM2
uniprot id: P15259
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
messages: Expressed in the heart and muscle. Not found in the liver and brain.
messages: Homodimer. Interacts with ENO1.
messages: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PCDH11Y
gene id: 9606:PCDH11Y
uniprot id: Q9BZA8
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving PCDH11Y is a cause of multiple congenital abnormalities, including severe bilateral vesicoureteral reflux (VUR) with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with ROBO2.
messages: Cell membrane
messages: Expressed strongly in fetal brain and brain (cortex, amygdala, thalamus, substantia nigra, hippocampus, caudate nucleus and corpus callosum). Expressed at low level in testis. Expressed in apoptosis-resistant cells.
messages: Interacts with CTNNB1.
messages: Potential calcium-dependent cell-adhesion protein.

9606:TMEM25
gene id: 9606:TMEM25
uniprot id: Q86YD3
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Expressed throughout the brain with higher levels in the pyramidal cell layer of the hippocampal CA1 and CA3 regions. Also highly expressed within the hippocampal dentate gyrus region and cerebellum and in scattered neurons in the cerebral cortex.
messages: In neurons, modulates the degradation of NMDA receptor GRIN2B subunit. Plays a role in the regulation of neuronal excitability.
messages: Interacts with GRIN2B.
messages: Late endosome
messages: Lysosome
messages: Secreted

9606:IL4R
gene id: 9606:IL4R
uniprot id: B2RBY1
uniprot id: P24394
names: Domain
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Allelic variants in IL4RA are associated with a susceptibility to atopy, an immunological condition that can lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema.
messages: Allelic variants in IL4RA are associated with cedar pollen sensitization. Individuals develop Japanese cedar pollinosis with increased exposure to cedar pollen. Japanese cedar pollinosis is a type I allergic disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal congestion, and conjunctival itching.
messages: Belongs to the type I cytokine receptor family. Type 4 subfamily.
messages: Cell membrane
messages: Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
messages: Isoform 1 and isoform 2 are highly expressed in activated T-cells.
messages: Membrane
messages: On IL4 binding, phosphorylated on C-terminal tyrosine residues. Phosphorylation on any one of tyrosine residues, Tyr-575, Tyr-603 or Tyr-631, is required for STAT6-induced gene induction.
messages: Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2.
messages: Secreted
messages: Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells.
messages: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
messages: The box 1 motif is required for JAK interaction and/or activation.
messages: The extracellular domain represents the IL4 binding protein (IL4BP).
messages: The functional IL4 receptor is formed by initial binding of IL4 to IL4R. Subsequent recruitment to the complex of the common gamma chain, in immune cells, creates a type I receptor and, in non-immune cells, of IL13RA1 forms a type II receptor. IL4R can also interact with the IL13/IL13RA1 complex to form a similar type II receptor (PubMed:7775445, PubMed:8804422). Interacts with PIK3C3 (By similarity). Interacts with the SH2-containing phosphatases, PTPN6/SHIP1, PTPN11/SHIP2 and INPP5D/SHIP (PubMed:11714803). Interacts with JAK1 through a Box 1-containing region; inhibited by SOCS5. Interacts with SOCS5; inhibits IL4 signaling (By similarity). Interacts with JAK3 (PubMed:7538655). Interacts with CLM1 (By similarity).
messages: The soluble form (sIL4R/IL4BP) can also be produced by proteolytic cleavage at the cell surface (shedding) by a metalloproteinase.

9606:DOLK
gene id: 9606:DOLK
uniprot id: A0A0S2Z597
uniprot id: Q9UPQ8
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the polyprenol kinase family.
messages: Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis (PubMed:12213788, PubMed:16923818, PubMed:17273964). Dol-P is a lipid carrier essential for the synthesis of N-linked and O-linked oligosaccharides and for GPI anchors (PubMed:12213788).
messages: Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.
messages: Endoplasmic reticulum membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:OR10H2
gene id: 9606:OR10H2
uniprot id: A0A126GWJ7
uniprot id: O60403
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:SNX24
gene id: 9606:SNX24
uniprot id: Q9Y343
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the sorting nexin family.
messages: Cytoplasmic vesicle membrane
messages: May be involved in several stages of intracellular trafficking.
messages: The PX domain mediates specific binding to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)).

9606:ACP1
gene id: 9606:ACP1
uniprot id: A0A140VK37
uniprot id: P24666
uniprot id: Q59EH3
names: Activity Regulation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ACP1 is genetically polymorphic. Three common alleles are known in Caucasians: ACP1*A, ACP1*B and ACP1*C. They give rise to six different phenotypes. Each allele appears to encode two electrophoretically different isozymes, F and S, which are produced in allele-specific ratios (PubMed:1939112). The sequence shown is that of allele ACP1*B and allele ACP1*C.
messages: Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates with differences in substrate specificity between isoform 1 and isoform 2.
messages: Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates.
messages: Belongs to the low molecular weight phosphotyrosine protein phosphatase family.
messages: Cytoplasm
messages: Does not possess phosphatase activity.
messages: Expressed in T-lymphocytes.
messages: Inhibited by sulfhydryl reagents.
messages: Interacts with EPHA2; dephosphorylates EPHA2. Interacts with EPHB1.
messages: Interacts with the SH3 domain of SPTAN1. There is no interaction observed for isoforms 2 or 3.
messages: Not phosphorylated.
messages: Phosphorylated by LCK (PubMed:9038134, PubMed:10336608). Phosphorylation at Tyr-132 increases its phosphatase activity (PubMed:9038134).

9606:THRSP
gene id: 9606:THRSP
uniprot id: Q92748
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SPOT14 family.
messages: Cytoplasm
messages: Homodimer. Heterodimer with MID1IP1 (By similarity). Interacts with THRB and PLAGL1.
messages: Mainly expressed in tissues that synthesize triglycerides.
messages: Nucleus
messages: Plays a role in the regulation of lipogenesis, especially in lactating mammary gland. Important for the biosynthesis of triglycerides with medium-length fatty acid chains. May modulate lipogenesis by interacting with MID1IP1 and preventing its interaction with ACACA (By similarity). May function as transcriptional coactivator. May modulate the transcription factor activity of THRB.

9606:DVL1
gene id: 9606:DVL1
uniprot id: O14640
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DSH family.
messages: Cell membrane
messages: Cytoplasmic vesicle
messages: Interacts with CXXC4. Interacts (via PDZ domain) with NXN (By similarity). Interacts with BRD7 and INVS. Interacts (via PDZ domain) with VANGL1 and VANGL2 (via C-terminus). Interacts with ARRB1; the interaction is enhanced by phosphorylation of DVL1. Interacts with CYLD (By similarity). Interacts (via PDZ domain) with RYK. Self-associates (via DIX domain) and forms higher homooligomers. Interacts (via PDZ domain) with DACT1 and FZD7, where DACT1 and FZD7 compete for the same binding site (By similarity). Interacts (via DEP domain) with MUSK; the interaction is direct and mediates the formation a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering (By similarity). Interacts (via PDZ domain) with TMEM88. Interacts with DCDC2. Interacts with FOXK2 (PubMed:25805136). Interacts with PKD1 (via extracellular domain) (PubMed:27214281). Interacts (via PDZ domain) with CCDC88C/DAPLE; competes with CCDC88C for binding to frizzled receptor FZD7 and dissociates from CCDC88C following initiation of non-canonical Wnt signaling when CCDC88C displaces DVL1 from ligand-activated FZD7 (PubMed:26126266, PubMed:14750955).
messages: Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).
messages: The DEP domain mediates interaction with the cell membrane.
messages: The DIX domain promotes homooligomerization.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated; undergoes both 'Lys-48'-linked ubiquitination, leading to its subsequent degradation by the ubiquitin-proteasome pathway, and 'Lys-63'-linked ubiquitination. The interaction with INVS is required for ubiquitination. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains (By similarity).
messages: cytosol

9606:NCF2
gene id: 9606:NCF2
uniprot id: A0A0S2Z457
uniprot id: P19878
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NCF2/NOXA1 family.
messages: Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF4. Interacts (via the C-terminal SH3 domain) with NCF1 (via C-terminus). Interacts with SYTL1 and RAC1. May interact with NOXO1. Interacts with S100A8 and calprotectin (S100A8/9) (PubMed:15642721). Interacts with GBP7 (via GB1/RHD3-type G domain) (By similarity). Interacts with CYBB; the interaction is enhanced in the presence of GBP7 (By similarity).
messages: Cytoplasm
messages: NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).
messages: The OPR/PB1 domain mediates the association with NCF4/p40-PHOX.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ARRDC5
gene id: 9606:ARRDC5
uniprot id: A6NEK1
names: Caution
names: Similarity
messages: Belongs to the arrestin family.
messages: It is uncertain whether Met-1 or Met-15 is the initiator.

9606:RGR
gene id: 9606:RGR
uniprot id: A0A0S2Z494
uniprot id: A0A0S2Z498
uniprot id: P47804
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
messages: Covalently binds all-trans- and 11-cis-retinal.
messages: Membrane
messages: Preferentially expressed at high levels in the retinal pigment epithelium (RPE) and Mueller cells of the neural retina.
messages: Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SLC25A23
gene id: 9606:SLC25A23
uniprot id: Q9BV35
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the mitochondrial carrier (TC 2.A.29) family.
messages: Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane (PubMed:15123600). May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria (PubMed:15123600). Acts as a regulator of mitochondrial calcium uptake via interaction with MCU and MICU1 (PubMed:24430870).
messages: Interacts with MCU (PubMed:24430870). Interacts with MICU1 (PubMed:24430870).
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Mitochondrion inner membrane
messages: Present in various cell lines (at protein level). Expressed at low levels in most tissues examined, with highest expression in brain, skeletal muscle and pancreas.

9606:FEZ2
gene id: 9606:FEZ2
uniprot id: Q9UHY8
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the zygin family.
messages: Expressed in nonneural tissues, such as heart, lung, spleen, muscle, testis, placenta and melanocytes.
messages: Homodimer; disulfide-linked. May form heterodimers with FEZ1. Interacts with synaptotagmin.
messages: Involved in axonal outgrowth and fasciculation.

9606:CMYA5
gene id: 9606:CMYA5
uniprot id: Q8N3K9
names: Domain
names: Function
names: Induction
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Amphipathic helix regions act as an anchoring domain for PKA, and appear to be responsible of the interaction between myospryn and PRKAR2A.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).
messages: Expressed in skeletal muscle; at a strong level and in heart.
messages: Interacts with PRKAR2A. Interacts with ACTN2 and DTNBP1/dysbindin (By similarity). Interacts with DES (PubMed:17872945). Interacts with DMD/dystrophin (By similarity). Interacts with the calcineurin catalytic subunit PPP3CA (By similarity). Interacts with TTN (PubMed:20634290). Interacts with CAPN3; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis (PubMed:20634290). Interacts with FSD2 (By similarity). Identified in a complex composed of FSD2, CMYA5 and RYR2 (By similarity).
messages: M line
messages: May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity).
messages: Nucleus
messages: Phosphorylated by PKA.
messages: Sarcoplasmic reticulum
messages: perinuclear region

9606:NALCN
gene id: 9606:NALCN
uniprot id: Q8IZF0
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NALCN family.
messages: Cell membrane
messages: Contains 24 transmembrane helices (TM) that form four homologous functional repeats connected by intracellular linkers. Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments represent the voltage-sensor. S4 transmembrane segments lack some of the charged residues (K and R) found at every third position in the S4s of the NaV, CaV, and KV channels. Pore-forming loops (P loops) between S5 and S6 of each domain form an EEKE sodium- ion selectivity filter a mixture between the EEEE found in the CaVs and the DEKA of NaVs. Voltage-sensing domains (VSDs), formed by S1 to S4 of each domain, detect changes in membrane potential and induce the opening or closing of the ion-conducting pore domain, formed by S5 and S6.
messages: Found in a complex with NALCN, UNC79, UNC80 and NACL1; these auxiliary subunits are indispensable for the function of NALCN channel (PubMed:32494638, PubMed:32698188, PubMed:33203861). Interacts with UNC80; required for the NALCN activation/inhibition by GPCRs in neurons. Found in a complex with NALCN, UNC79 and UNC80; UNC80 bridges NALCN to UNC79 (By similarity). Interacts with CHRM3 (By similarity).
messages: Inhibited by low micromolar concentrations of Gd(3+) and high micromolar concentrations of verapamil. Insensitive to tetrodotoxin (TTX) and potentiated by low external Ca(2+) concentration.
messages: NALCN was also originally reported to be a voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions (PubMed:17448995). However, NALCN is recently reported to be selective only for monovalent cations and to be blocked by extracellular divalent cations (PubMed:32494638). Futhemore, coexpression of NALCN, UNC79, UNC80, and NALF1 results in voltage-dependent NALCN currents (PubMed:32494638, PubMed:31409833).
messages: Phosphorylated on tyrosine residues.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (PubMed:17448995, PubMed:31409833). NALCN channel functions as a multi-protein complex, which consists at least of NALCN, NALF1, UNC79 and UNC80 (PubMed:32494638, PubMed:33203861). NALCN is the voltage-sensing, pore-forming subunit of the NALCN channel complex (PubMed:17448995). NALCN channel complex is constitutively active and conducts monovalent cations but is blocked by physiological concentrations of extracellular divalent cations (PubMed:32494638). In addition to its role in regulating neuronal excitability, is required for normal respiratory rhythm, systemic osmoregulation by controlling the serum sodium concentration and in the regulation of the intestinal pace-making activity in the interstitial cells of Cajal (By similarity). NALCN channel is also activated by neuropeptides such as neurotensin and substance P (SP) through a SRC family kinases-dependent pathway (By similarity). In addition, NALCN activity is enhanced/modulated by several GPCRs, such as CHRM3 (By similarity).

9606:AKR1A1
gene id: 9606:AKR1A1
uniprot id: P14550
uniprot id: V9HWI0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Belongs to the aldo/keto reductase family.
messages: Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosaccharides and bile acids, with a preference for negatively charged substrates, such as glucuronate and succinic semialdehyde (PubMed:10510318). Functions as a detoxifiying enzyme by reducing a range of toxic aldehydes. Reduces methylglyoxal and 3-deoxyglucosone, which are present at elevated levels under hyperglycemic conditions and are cytotoxic. Involved also in the detoxification of lipid-derived aldehydes like acrolein (By similarity). Plays a role in the activation of procarcinogens, such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs, including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN) (PubMed:18276838, PubMed:11306097). Displays no reductase activity towards retinoids (By similarity).
messages: Cell membrane
messages: Membrane
messages: Monomer.
messages: Widely expressed. Highly expressed in kidney, salivary gland and liver. Detected in trachea, stomach, brain, lung, prostate, placenta, mammary gland, small intestine and lung.
messages: cytosol

9606:SORCS3
gene id: 9606:SORCS3
uniprot id: Q9UPU3
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the VPS10-related sortilin family. SORCS subfamily.
messages: Highly expressed in brain.
messages: Membrane

9606:AFMID
gene id: 9606:AFMID
uniprot id: Q63HM1
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the kynurenine formamidase family.
messages: Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites.
messages: Homodimer.
messages: Nucleus
messages: The main chain amide nitrogen atoms of the second glycine and its adjacent residue in the HGGXW motif define the oxyanion hole, and stabilize the oxyanion that forms during the nucleophilic attack by the catalytic serine during substrate cleavage.
messages: cytosol

9606:MYL9
gene id: 9606:MYL9
uniprot id: P24844
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Myosin is a hexamer of 2 heavy chains and 4 light chains: interacts with myosin heavy chain MYO19.
messages: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (PubMed:11942626, PubMed:2526655). In myoblasts, may regulate PIEZO1-dependent cortical actomyosin assembly involved in myotube formation (By similarity).
messages: Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge. Phosphorylation is required for myotube formation.
messages: Smooth muscle tissues and in some, but not all, nonmuscle cells.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: This chain binds calcium.
messages: cell cortex
messages: cytoskeleton

9606:GREM1
gene id: 9606:GREM1
uniprot id: A6XAA7
uniprot id: B3KTR9
uniprot id: O60565
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DAN family.
messages: By high glucose through TGFB1-mediated pathways in mesangial cell. Down-regulated in tumor cell lines.
messages: Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro) (PubMed:27036124). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed (By similarity).
messages: Highly expressed in small intestine, fetal brain and colon. Expression is restricted to intestinal subepithelial myofibroblasts (ISEMFs) at the crypt base. In subjects with HMPS1, by contrast, GREM1 is expressed, not only in basal ISEMFs, but also at very high levels in epithelial cells (predominantly colonocytes), with expression extending most of the way up the sides of the crypt. Weakly expressed in brain, ovary, prostate, pancreas and skeletal muscle. In brain found in the region localized around the internal capsule in the large subcortical nuclei, including caudate, putamen, substantia nigra, thalamus and subthalamus. Predominantly expressed in normal cells including neurons, astrocytes and fibroblasts.
messages: Homodimer; can also form homooligomers (PubMed:27036124). Interacts with BMP2; can form higher oligomers with BMP2 (PubMed:27036124). Interacts with SLIT1 and SLIT2 in a glycosylation-dependent manner (By similarity).
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry. HMPS1 is caused by a duplication spanning the 3' end of the SCG5 gene and a region upstream of the GREM1 locus. This duplication is associated with increased allele-specific GREM1 expression that may cause reduced bone morphogenetic protein (BMP) pathway activity. This mechanism also underlies tumorigenesis in juvenile polyposis of the large bowel (PubMed:22561515).

9606:GRPR
gene id: 9606:GRPR
uniprot id: P30550
uniprot id: X5D7H2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Highly expressed in pancreas (PubMed:11245983). Also expressed in stomach, adrenal cortex and brain (PubMed:11245983). In brain, expressed in cells throughout the cortex (PubMed:34610277).
messages: Membrane
messages: Receptor for gastrin-releasing peptide (GRP) (PubMed:1655761). Signals via association with G proteins that activate a phosphatidylinositol-calcium second messenger system, resulting in Akt phosphorylation. Contributes to the regulation of food intake. Contributes to the perception of prurient stimuli and transmission of itch signals in the spinal cord that promote scratching behavior, but does not play a role in the perception of pain. Contributes primarily to nonhistaminergic itch sensation. In one study, shown to act in the amygdala as part of an inhibitory network which inhibits memory specifically related to learned fear (By similarity). In another study, shown to contribute to disinhibition of glutamatergic cells in the auditory cortex via signaling on vasoactive intestinal peptide-expressing cells which leads to enhanced auditory fear memories (By similarity). Contributes to the induction of sighing through signaling in the pre-Botzinger complex, a cluster of several thousand neurons in the ventrolateral medulla responsible for inspiration during respiratory activity (By similarity).

9606:LGALS16
gene id: 9606:LGALS16
uniprot id: A8MUM7
names: Function
names: Tissue Specificity
messages: Binds lactose with high affinity. Strong inducer of T-cell apoptosis.
messages: Predominantly and highly expressed in the placenta where it is localized mainly in the syncytiotrophoblast and in the endothelia of fetal vessels. Also detected in the amnion and chorionic trophoblasts in fetal membranes.

9606:PCSK4
gene id: 9606:PCSK4
uniprot id: A0A140VJQ9
uniprot id: Q6UW60
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase S8 family.
messages: Belongs to the peptidase S8 family. Furin subfamily.
messages: Localized predominantly in the cytotrophoblast layer of trophoblast cells during the first trimester of pregnancy, and to the syncytiotrophoblast and stroma cells during the third trimester.
messages: Membrane
messages: N-glycosylated.
messages: Placenta.
messages: Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Also plays a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be through the proteolytical processing and activation of proteins such as IGF2 (PubMed:16040806). May also participate in folliculogenesis in the ovaries (By similarity).
messages: Synthesized in the endoplasmic reticulum as a zymogen, is matured by autocatalytic cleavage between the prodomain and the catalytic domain.
messages: The proPCSK4 form interacts with HSPA5; the interaction takes place at the endoplasmic reticulum.
messages: acrosome membrane

9606:ARRDC2
gene id: 9606:ARRDC2
uniprot id: A0A024R7K1
uniprot id: Q8TBH0
names: Similarity
names: Subunit
messages: Belongs to the arrestin family.
messages: Interacts with WWP1 (via WW domains).

9606:NRN1L
gene id: 9606:NRN1L
uniprot id: Q496H8
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the neuritin family.
messages: Cell membrane

9606:DCAF16
gene id: 9606:DCAF16
uniprot id: Q9NXF7
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Functions as a substrate recognition component for CUL4-DDB1 E3 ubiquitin-protein ligase complex, which mediates ubiquitination and proteasome-dependent degradation of nuclear proteins.
messages: Interacts with DDB1 and CUL4A.
messages: Nucleus

9606:TASL
gene id: 9606:TASL
uniprot id: Q9HAI6
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Endosome membrane
messages: Escape from X chromosome inactivation results in an increased expression in females (PubMed:31092820, PubMed:31001245). In monocytes and B cells, induced by type I and type II interferons as well as LPS (PubMed:31092820).
messages: Highly expressed in immune cell types such as B-cells, neutrophils, dendritic cells and monocytes, the expression levels are two-three-fold higher in female cells compared to male cells (at protein level) (PubMed:31092820, PubMed:31001245). Expressed at low levels in T-cells and NK cells (PubMed:31001245).
messages: Innate immune adapter that mediates the recruitment and activation of IRF5 downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9 (PubMed:32433612). Following recruitment to endolysosome by SLC15A4 downstream of TLR7, TLR8 and TLR9, specifically recruits IRF5 transcription factor via its pLxIS motif, leading to IRF5 activation and subsequent expression of type I interferons (PubMed:32433612). Plays a role in the regulation of endolysosomal pH in immune cells such as B-cells, dendritic cells and monocytes (PubMed:31001245).
messages: Interacts (via pLxIS motif) with IRF5; leading to IRF5 activation (PubMed:32433612). Interacts with SLC15A4; leading to its recruitment to endolysosome (PubMed:32433612).
messages: Lysosome membrane
messages: Nucleus
messages: Some alleles may be associated with systemic lupus erythematosus (SLE); a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. Because it evades X-chromosome inactivation, its expression is increased in female immune cells which may be involved to SLE striking sex imbalance towards females.
messages: The pLxIS motif constitutes an IRF5-binding motif: following phosphorylation, the phosphorylated pLxIS motif of TASL recruits IRF5.
messages: The phosphorylated pLxIS motif constitutes an IRF5-binding motif, leading to recruitment of the transcription factor IRF5 to induce type-I interferons and other cytokines.

9606:INS-IGF2
gene id: 9606:INS-IGF2
uniprot id: F8WCM5
names: Miscellaneous
names: Tissue Specificity
messages: Based on a readthrough transcript which may produce an INS-IGF2 fusion protein.
messages: Expressed in pancreas, eye and, to a lower extent, in limb.

9606:KDM4E
gene id: 9606:KDM4E
uniprot id: B2RXH2
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the JHDM3 histone demethylase family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code.
messages: Nucleus

9606:H1-7
gene id: 9606:H1-7
uniprot id: Q75WM6
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the histone H1/H5 family.
messages: Chromosome
messages: Essential for normal spermatogenesis and male fertility (PubMed:16533358). Required for proper cell restructuring and DNA condensation during the elongation phase of spermiogenesis. Involved in the histone-protamine transition of sperm chromatin and the subsequent production of functional sperm. Binds both double-stranded and single-stranded DNA, ATP and protamine-1.
messages: It is uncertain whether Met-1 or Met-22 is the initiator.
messages: Nucleus
messages: Testis-specific.

9606:PKDCC
gene id: 9606:PKDCC
uniprot id: Q504Y2
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily.
messages: Golgi apparatus
messages: Highly expressed in platelets.
messages: N-glycosylated.
messages: Phosphorylated on tyrosines; probably via autophosphorylation.
messages: Secreted
messages: Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29 (PubMed:25171405). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405). May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation. May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:IPO8
gene id: 9606:IPO8
uniprot id: O15397
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the importin beta family.
messages: Cytoplasm
messages: Forms a heterodimer with KPNB1 (PubMed:9214382). Interacts with SRP19 (PubMed:11682607). Interacts with RPL23A (PubMed:11682607). Binds directly to nuclear pore complexes.
messages: Involved in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, may serve as receptor for nuclear localization signals (NLS) and promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (PubMed:9214382). In vitro mediates the nuclear import of the signal recognition particle protein SRP19 (PubMed:11682607). May also be involved in cytoplasm-to-nucleus shuttling of a broad spectrum of other cargos, including Argonaute-microRNAs complexes, the JUN protein, RELA/NF-kappa-B p65 subunit, the translation initiation factor EIF4E and a set of receptor-activated mothers against decapentaplegic homolog (SMAD) transcription factors that play a critical role downstream of the large family of transforming growth factor beta and bone morphogenetic protein (BMP) cytokines (Probable).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SUV39H1
gene id: 9606:SUV39H1
uniprot id: O43463
names: Activity Regulation
names: Developmental Stage
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HTLV-1 Tax protein, leading to abrogate Tax transactivation of HTLV-1 LTR.
messages: Accumulates during mitosis at centromeres during prometaphase, but dissociates from the centromere at the meta- to anaphase transition.
messages: Acetylated at Lys-266, leading to inhibition of enzyme activity. SIRT1-mediated deacetylation relieves this inhibition.
messages: Although the SET domain contains the active site of enzymatic activity, both pre-SET and post-SET domains are required for methyltransferase activity. The SET domain also participates in stable binding to heterochromatin.
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.
messages: Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length. Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation.
messages: In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.
messages: Inhibited by S-adenosyl-L-homocysteine. Negatively regulated by CCAR2.
messages: Interacts with H3 and H4 histones. Interacts with GFI1B, DNMT3B, CBX1, CBX4, CCAR2, MBD1, RUNX1, RUNX3, MYOD1, SMAD5 and RB1. Interacts with SBF1 through the SET domain. Interacts with HDAC1 and HDAC2 through the N-terminus and associates with the core histone deacetylase complex composed of HDAC1, HDAC2, RBBP4 and RBBP7. Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8. Interacts (via SET domain) with MECOM; enhances MECOM transcriptional repression activity. Interacts with LMNA; the interaction increases stability of SUV39H1. The large PER complex involved in the histone methylation is composed of at least PER2, CBX3, TRIM28, SUV39H1 and/or SUV39H2; CBX3 mediates the formation of the complex.
messages: Nucleus
messages: Nucleus lamina
messages: Phosphorylated on serine residues, and to a lesser degree, on threonine residues. The phosphorylated form is stabilized by SBF1 and is less active in its transcriptional repressor function.
messages: centromere
messages: nucleoplasm

9606:RGS5
gene id: 9606:RGS5
uniprot id: A0A024R8X9
uniprot id: O15539
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
messages: Acts as an endogenous negative regulator of isoform 1.
messages: Cytoplasm
messages: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity).
messages: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha.
messages: Membrane

9606:EFL1
gene id: 9606:EFL1
uniprot id: Q7Z2Z2
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Associates with the 60S ribosomal subunit (PubMed:21536732). Found in a complex consisting of the 60S ribosomal subunit, SBDS and EFL1 (PubMed:22814378). Interacts with SBDS and binds to GTP and GDP; the interaction with SBDS decreases EFL1 affinity for GDP and facilitates GDP release (PubMed:25991726).
messages: Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.
messages: Expressed at low levels in brain. Expression is highly increased in glioma tissues.
messages: Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits.
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:CDS1
gene id: 9606:CDS1
uniprot id: A0A024RDG8
uniprot id: Q92903
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CDS family.
messages: Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol (PubMed:9407135, PubMed:25375833). Exhibits almost no acyl chain preference for PA, showing no discrimination for the sn-1/sn-2 acyl chain composition of PAs (PubMed:25375833). Plays an important role in regulating the growth of lipid droplets which are storage organelles at the center of lipid and energy homeostasis (PubMed:26946540, PubMed:31548309). Positively regulates the differentiation and development of adipocytes (By similarity).
messages: Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol.
messages: Endoplasmic reticulum membrane
messages: Expressed in adult tissues such as placenta, brain, small intestine, ovary, testis and prostate. Highly expressed in fetal kidney, lung and brain. Lower level in fetal liver.
messages: Homodimer (By similarity). Interacts with FOS; this interaction may enhance catalytic activity (By similarity).
messages: Inhibited by its anionic phospholipid end products, with phosphatidylinositol-(4,5)- bisphosphate showing the strongest inhibition.
messages: Membrane

9606:TUBA1B
gene id: 9606:TUBA1B
uniprot id: P68363
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.
messages: Autoregulated by feedback control of mRNA degradation (PubMed:31727855). In excess of soluble tubulin, TTC5/STRAP cofactor triggers co-translation degradation of tubulin mRNA (PubMed:31727855).
messages: Belongs to the tubulin family.
messages: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).
messages: Dimer of alpha and beta chains (PubMed:17563362, PubMed:34996871, PubMed:35482892). A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM (PubMed:34996871, PubMed:35482892). Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity (PubMed:34996871, PubMed:35482892). Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells (PubMed:34996871, PubMed:35482892). Nascent tubulin polypeptide interacts (via beta-tubulin MREC motif) with TTC5/STRAP; this interaction may result in tubulin mRNA-targeted degradation (PubMed:31727855).
messages: Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.
messages: Nitration of Tyr-451 is irreversible and interferes with normal dynein intracellular distribution.
messages: Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into cilia and flagella axonemes, which is required for their stability and maintenance. Flagella glycylation controls sperm motility. Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally.
messages: Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Glutamylation is also involved in cilia motility (By similarity).
messages: The MREC motif mediates interaction with TTC5/STRAP and may be critical for tubulin autoregulation.
messages: Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers (PubMed:34996871). Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms (PubMed:34996871). Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin (PubMed:34996871).
messages: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).
messages: Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (KIAA0895L/MATCAP, VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively.
messages: cytoskeleton

9606:ZNF114
gene id: 9606:ZNF114
uniprot id: Q8NC26
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:CNOT3
gene id: 9606:CNOT3
uniprot id: A0A024R4R3
uniprot id: O75175
names: Developmental Stage
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CNOT2/3/5 family.
messages: Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may involve histone deacetylases. Involved in the maintenance of embryonic stem (ES) cell identity.
messages: Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of probably mutually exclusive catalytic subunits. In the complex interacts directly with CNOT2. Interacts with TIP120B and NANOS2. Interacts with EBF1.
messages: Cytoplasm
messages: Expressed in embryonic stem (ES) cells.
messages: Nucleus
messages: P-body
messages: Seems to have an artifactual loop-out at the 3'-end deleting 2 full exons and part of 2 others.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous. Highly expressed in brain, heart, thymus, spleen, kidney, liver, small intestine, lung and peripheral blood leukocytes.

9606:LAMC3
gene id: 9606:LAMC3
uniprot id: Q8N2D6
uniprot id: Q9Y6N6
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
messages: Broadly expressed in: skin, heart, lung, and the reproductive tracts.
messages: Domain IV is globular.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Gamma-3 is a subunit of laminin-12 (laminin-213), laminin-14 (laminin-423) and laminin-15 (laminin-523).
messages: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: basement membrane

9606:TBC1D13
gene id: 9606:TBC1D13
uniprot id: Q9NVG8
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes.
messages: Cytoplasm
messages: Interacts with RAB1A and RAB10; in a GTP-dependent manner.
messages: Membrane

9606:FTH1
gene id: 9606:FTH1
uniprot id: A0A024R525
uniprot id: P02794
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the ferritin family.
messages: Expressed in the liver.
messages: Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major chain can be light or heavy, depending on the species and tissue type. In the human liver, the heavy chain is predominant. The functional molecule forms a roughly spherical shell with a diameter of 12 nm and contains a central cavity into which the insoluble mineral iron core is deposited.
messages: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity).
messages: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.
messages: The disease is caused by variants affecting the gene represented in this entry. In a Japanese family affected by HFE5, a single point mutation has been detected in the iron-responsive element (IRE) in the 5'-UTR of FTH1 mRNA. This mutation leads to an increased binding affinity for iron regulatory protein and thereby to the efficient suppression of mRNA translation.

9606:ADCK2
gene id: 9606:ADCK2
uniprot id: A4D1T6
uniprot id: Q7Z695
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Aberrant splicing.
messages: Belongs to the protein kinase superfamily. ADCK protein kinase family.
messages: Membrane
messages: The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).

9606:TRAM1
gene id: 9606:TRAM1
uniprot id: G3XAN4
uniprot id: Q15629
uniprot id: Q6FHL3
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) In case of cytomegalovirus infection, participates in US2- and US11-mediated ER-to-cytosol retrotranslocation and subsequent degradation of major histocompatibility complex (MHC) class I heavy chains, thereby decreasing the immune detection by cytotoxic T-cells.
messages: (Microbial infection) Interacts with human cytomegalovirus/HHV-5 proteins US2 and US11.
messages: Belongs to the TRAM family.
messages: Endoplasmic reticulum membrane
messages: Interacts with SEC61B (PubMed:19121997). May interact with Derlin-1/DERL1 (PubMed:19121997).
messages: Involved in the translocation of nascent protein chains into or through the endoplasmic reticulum (ER) membrane by facilitating the proper chain positioning at the SEC61 channel (PubMed:1315422, PubMed:8616892, PubMed:9506517, PubMed:12475939, PubMed:32013668). Regulates the exposure of nascent secretory protein chain to the cytosol during translocation into the ER (PubMed:9506517). May affect the phospholipid bilayer in the vicinity of the lateral gate of the SEC61 channel, thereby facilitating ER protein transport (PubMed:32013668). Intimately associates with transmembrane (TM) domain of nascent membrane proteins during the entire integration process into the ER membrane (PubMed:8616892). Associates with the second TM domain of G-protein-coupled receptor opsin/OPSD nascent chain in the ER membrane, which may facilitate its integration into the membrane (PubMed:12475939). Under conditions of ER stress, participates in the disposal of misfolded ER membrane proteins during the unfolded protein response (UPR), an integrated stress response (ISR) pathway, by selectively retrotranslocating misfolded ER-membrane proteins from the ER into the cytosol where they are ubiquitinated and degraded by the proteasome (PubMed:20430023).
messages: Membrane
messages: N-glycosylated.
messages: Up-regulated upon endoplasmic reticulum stress.

9606:TEX50
gene id: 9606:TEX50
uniprot id: A0A1B0GTY4
names: Subcellular Location Annotation
messages: Membrane

9606:GLOD4
gene id: 9606:GLOD4
uniprot id: Q9HC38
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glyoxalase I family.
messages: Expressed in heart, brain, liver, kidney, pancreas and placenta. Not expressed in skeletal muscle and lung.
messages: Expression is decreased in hepatocellular carcinoma samples as compared to adjacent non-cancerous liver tissues from the same patients. Transfection in hepatocellular carcinoma cells and overexpression can inhibit the cell growth.
messages: Interacts with NUDT9.
messages: Mitochondrion

9606:HERPUD2
gene id: 9606:HERPUD2
uniprot id: Q9BSE4
names: Function
names: Subcellular Location Annotation
messages: Could be involved in the unfolded protein response (UPR) pathway.
messages: Membrane

9606:DNAJB11
gene id: 9606:DNAJB11
uniprot id: Q9UBS4
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins (PubMed:10827079, PubMed:15525676, PubMed:29706351). Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed (PubMed:15525676). May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity (PubMed:10827079). It is necessary for maturation and correct trafficking of PKD1 (PubMed:29706351).
messages: By endoplasmic reticulum stress-inducing agents such as thapsigargin and tunicamycin.
messages: Contains high-mannose Endo H-sensitive carbohydrates.
messages: Cys-169, Cys-171, Cys-193 and Cys-196 form intramolecular disulfide bonds. The preferential partner for each Cys is not known.
messages: Endoplasmic reticulum lumen
messages: Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGGT1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX. Binds to denatured substrates in an ATP-independent manner. Interacts via the J domain with HSPA5 in an ATP-dependent manner.
messages: PubMed:11584023 reported a cytosolic, as well as nuclear subcellular location. This result was obtained using an N-terminally GFP-tagged construct which most probably affected signal peptide-driven targeting to the ER. As a consequence, the in vivo revelance of the observed interaction with APOBEC1, a nuclear protein, is dubious. This holds true for the interaction with PWP1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Thr-188 was reported to be phosphorylated upon DNA damage by ATM or ATR; however as this position has been shown to be in the ER lumen, the in vivo relevance is not proven.
messages: Widely expressed.

9606:PHF14
gene id: 9606:PHF14
uniprot id: O94880
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
messages: Chromosome
messages: Cytoplasm
messages: Dubious isoform. Alternative initiation from a downstream AUG is supported by ribosome profiling data.
messages: Histone-binding protein (PubMed:23688586). Binds preferentially to unmodified histone H3 but can also bind to a lesser extent to histone H3 trimethylated at 'Lys-9' (H3K9me3) as well as to histone H3 monomethylated at 'Lys-27' (H3K27ac) and trimethylated at 'Lys-27' (H3K27me3) (By similarity). Represses PDGFRA expression, thus playing a role in regulation of mesenchymal cell proliferation (By similarity). Suppresses the expression of CDKN1A/p21 by reducing the level of trimethylation of histone H3 'Lys-4', leading to enhanced proliferation of germinal center B cells (By similarity).
messages: Nucleus
messages: The N-terminal region, including the PHD-type 1 and 2 zinc fingers and the C2HC pre-PHD-type zinc finger, is required for binding to histone H3.

9606:CALCOCO1
gene id: 9606:CALCOCO1
uniprot id: Q9P1Z2
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CALCOCO family.
messages: Cytoplasm
messages: Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional activation via its interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization of two different activation regions (By similarity). In association with CCAR1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781).
messages: Nucleus
messages: Part of a calphoglin complex consisting of CALCOCO1, PPA1 and PGM (Ref.1). Interacts with the bHLH-PAS domains of GRIP1, AHR and ARNT. Interacts with CTNNB1 via both its N- and C-terminal regions. Interacts with EP300. Interacts with CCAR1 (via N-terminus) and GATA1 (By similarity).
messages: Recruitment by nuclear receptors is accomplished by the interaction of the coiled-coiled domain with p160 coactivators.
messages: Seems to enhance inorganic pyrophosphatase thus activating phosphogluomutase (PMG). Probably functions as component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth.
messages: The C-terminal activation region (AD) is used for downstream signaling. Seems to be essential for coactivator function with nuclear receptors and with the aryl hydrocarbon receptor (By similarity).
messages: The N-terminal activation region (AD) is necessary and sufficient for synergistic activation of LEF1-mediated transcription by CTNNB1. Contains a EP3000 binding region which is important for synergistic cooperation (By similarity).

9606:GPI
gene id: 9606:GPI
uniprot id: A0A2U3TZU2
uniprot id: B4DE36
uniprot id: P06744
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GPI family.
messages: Cytoplasm
messages: Homodimer; in the catalytically active form (PubMed:11371164, PubMed:12054796, PubMed:12777791). Monomer in the secreted form (PubMed:11371164, PubMed:12054796, PubMed:12777791).
messages: ISGylated.
messages: In the cytoplasm, catalyzes the conversion of glucose-6-phosphate to fructose-6-phosphate, the second step in glycolysis, and the reverse reaction during gluconeogenesis (PubMed:28803808). Besides it's role as a glycolytic enzyme, also acts as a secreted cytokine: acts as an angiogenic factor (AMF) that stimulates endothelial cell motility (PubMed:11437381). Acts as a neurotrophic factor, neuroleukin, for spinal and sensory neurons (PubMed:3352745, PubMed:11004567). It is secreted by lectin-stimulated T-cells and induces immunoglobulin secretion (PubMed:3352745, PubMed:11004567).
messages: Phosphorylation at Ser-185 by CK2 has been shown to decrease enzymatic activity and may contribute to secretion by a non-classical secretory pathway.
messages: Secreted
messages: Strongly inhibited by erythrose 4-phosphate.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ANO3
gene id: 9606:ANO3
uniprot id: A0A5F9ZHL6
uniprot id: B7Z9B9
uniprot id: Q9BYT9
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the anoctamin family.
messages: Cell membrane
messages: Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:21984732).
messages: Highly expressed in the forebrain striatum.
messages: Interacts with KCNT1/Slack.
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.

9606:MBL2
gene id: 9606:MBL2
uniprot id: P11226
names: Domain
names: Function
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with SARS coronavirus-2/SARS-CoV-2 Spike glycoprotein homotrimer; the interaction is calcium-dependent and modulated by Spike glycoprotein glycosylation state.
messages: Calcium-dependent lectin involved in innate immune defense (PubMed:35102342). Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA. Upon SARS coronavirus-2/SARS-CoV-2 infection, activates the complement lectin pathway which leads to the inhibition SARS-CoV-2 infection and a reduction of the induced inflammatory response (PubMed:35102342).
messages: Genetic variations in MBL2 are responsible for mannose-binding protein deficiency [MIM:614372]. This condition is defined as MBL2 protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL2-deficient adults appear healthy, but low levels of MBL2 are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants. There is an association between low levels of MBL2 and a defect of opsonization which results in susceptibility to frequent and chronic infections (PubMed:1675710). Functional MBL2 deficiency may be associated with protection against tuberculosis caused by Mycobacterium africanum but not by Mycobacterium tuberculosis, as observed in studies on Ghanaian patients with pulmonary tuberculosis (PubMed:21695215).
messages: Genetic variations in MBL2 influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424].
messages: Genetic variations in MBL2 may influence susceptibility to severe COVID-19 disease caused by SARS-CoV-2 virus infection.
messages: Oligomeric complex of 3 or more homotrimers. Interacts with MASP1 and MASP2. Interacts with MEP1A and MEP1B and may inhibit their catalytic activity. Interacts with CR1 (via Sushi 24 and Sushi 25 domains).
messages: Plasma protein produced mainly in the liver.
messages: Secreted
messages: The coiled-coil domain mediates trimerization.

9606:POTEG
gene id: 9606:POTEG
uniprot id: Q6S5H5
names: Miscellaneous
names: Similarity
messages: Belongs to the POTE family.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

9606:DEFB127
gene id: 9606:DEFB127
uniprot id: Q9H1M4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the beta-defensin family.
messages: Has antibacterial activity.
messages: Secreted

9606:TRIM45
gene id: 9606:TRIM45
uniprot id: Q9H8W5
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TRIM/RBCC family.
messages: Cytoplasm
messages: Expressed in brain, lung, skeletal muscle, heart and intestine in 80-day old embryo.
messages: Expressed in skeletal muscle, brain, heart and pancreas.
messages: May act as a transcriptional repressor in mitogen-activated protein kinase signaling pathway.
messages: Nucleus

9606:UTP6
gene id: 9606:UTP6
uniprot id: Q9NYH9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the UTP6 family.
messages: Involved in nucleolar processing of pre-18S ribosomal RNA.
messages: nucleolus

9606:HEXIM1
gene id: 9606:HEXIM1
uniprot id: O94992
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the HEXIM family.
messages: Cytoplasm
messages: Homooligomer and heterooligomer with HEXIM2; probably dimeric (PubMed:15713661, PubMed:15965233, PubMed:16377779). Core component of the 7SK RNP complex, at least composed of 7SK RNA, LARP7, MEPCE, HEXIM1 (or HEXIM2) and P-TEFb (composed of CDK9 and CCNT1/cyclin-T1) (PubMed:12832472, PubMed:15201869, PubMed:15169877, PubMed:16362050, PubMed:15713661, PubMed:15855166, PubMed:16377779, PubMed:17643375, PubMed:17724342). Interacts with the N-CoR complex through NCOR1 (PubMed:17452463). Interacts with ESR1 and NR3C1 (PubMed:15940264, PubMed:15941832). May interact with NF-kappa-B through RELA (PubMed:12581153). Interacts with CCNT2; mediates formation of a tripartite complex with KPNA2 (PubMed:19883659). Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 non-coding RNA (PubMed:28712728).
messages: Inhibits Tat activity which is required for HIV-1 transcription.
messages: Nucleus
messages: The coiled-coil domain mediates oligomerization.
messages: Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor (PubMed:14580347, PubMed:15713661, PubMed:15201869). Core component of the 7SK RNP complex: in cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:12832472, PubMed:14580347, PubMed:15713661, PubMed:15201869). May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity (PubMed:15940264, PubMed:15941832, PubMed:17088550). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).
messages: Ubiquitously expressed with higher expression in placenta. HEXIM1 and HEXIM2 are differentially expressed. Expressed in endocrine tissues.
messages: Up-regulated by HMBA (hexamethylene bisacetamide) (at protein level). Down-regulated by estrogen.

9606:ATM
gene id: 9606:ATM
uniprot id: A0A024R3C7
uniprot id: Q13315
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent autophosphorylation on Ser-1981 (PubMed:12556884, PubMed:16141325, PubMed:16858402, PubMed:17923702, PubMed:21144835). Acetylated in vitro by KAT5/TIP60 (PubMed:16141325). Deacetylated by SIRT7 during the late stages of DNA damage response, promoting ATM dephosphorylation and subsequent deactivation (PubMed:30944854).
messages: Belongs to the PI3/PI4-kinase family. ATM subfamily.
messages: By ionizing radiation.
messages: Cytoplasmic vesicle
messages: Defects in ATM may contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B-lymphocytes, lymphadenopathy, immunodeficiency and bone marrow failure.
messages: Defects in ATM may contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL).
messages: Defects in ATM may contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT patients.
messages: Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.
messages: Homodimer (PubMed:28508083). Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active. Binds p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with RAD17; DNA damage promotes the association. Interacts with EEF1E1; the interaction, induced on DNA damage, up-regulates TP53. Interacts with DCLRE1C, KAT8, KAT5, NABP2, ATMIN and CEP164. Interacts with AP2B1 and AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity). Interacts with TELO2 and TTI1. Interacts with DDX1. Interacts with BRAT1. Interacts with CYREN (via XLF motif) (By similarity). Interacts (via microbody targeting signal) with PEX5; promoting translocation to peroxisomes in response to reactive oxygen species (ROS) (PubMed:26344566).
messages: Inhibited by wortmannin.
messages: Nucleus
messages: Peroxisome matrix
messages: Phosphorylated by NUAK1/ARK5 (PubMed:12409306). Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase (PubMed:12556884, PubMed:16141325, PubMed:16858402, PubMed:21144835, PubMed:27664052). During the late stages of DNA damage response, dephosphorylated following deacetylation by SIRT7, leading to ATM deactivation (PubMed:30944854).
messages: Probable cloning artifact.
messages: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor (PubMed:9733514, PubMed:10550055, PubMed:10839545, PubMed:10910365, PubMed:12556884, PubMed:14871926, PubMed:15456891, PubMed:15448695, PubMed:15916964, PubMed:17923702). Recognizes the substrate consensus sequence [ST]-Q (PubMed:9733514, PubMed:10550055, PubMed:10839545, PubMed:10910365, PubMed:12556884, PubMed:14871926, PubMed:15456891, PubMed:15448695, PubMed:15916964, PubMed:17923702). Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism (By similarity). Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FBXW7, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, UFL1, RAD9, UBQLN4 and DCLRE1C (PubMed:9843217, PubMed:9733515, PubMed:10550055, PubMed:10766245, PubMed:10839545, PubMed:10910365, PubMed:10802669, PubMed:10973490, PubMed:11375976, PubMed:12086603, PubMed:15456891, PubMed:19965871, PubMed:30612738, PubMed:30886146, PubMed:26774286). May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA end…
messages: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9, UBQLN4 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Binds DNA ends. Plays a role in replication-dependent histone mRNA degradation. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response. Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks.
messages: The FATC domain is required for interaction with KAT5.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome

9606:SIGLECL1
gene id: 9606:SIGLECL1
uniprot id: Q8N7X8
names: Subcellular Location Annotation
messages: Membrane

9606:INSL6
gene id: 9606:INSL6
uniprot id: Q9Y581
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the insulin family.
messages: May have a role in sperm development and fertilization.
messages: Secreted
messages: Testis specific.

9606:GNG8
gene id: 9606:GNG8
uniprot id: Q9UK08
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the G protein gamma family.
messages: Cell membrane
messages: G proteins are composed of 3 units, alpha, beta and gamma.
messages: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

9606:MYF6
gene id: 9606:MYF6
uniprot id: P23409
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Efficient DNA binding requires dimerization with another bHLH protein. Interacts with CSRP3.
messages: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.
messages: Nucleus
messages: Skeletal muscle.

9606:RTBDN
gene id: 9606:RTBDN
uniprot id: K7ESG0
uniprot id: Q9BSG5
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the folate receptor family.
messages: Cell membrane
messages: Expressed in peripheral retina (at protein level).
messages: Not N-glycosylated.
messages: Riboflavin-binding protein which might have a role in retinal flavin transport.
messages: interphotoreceptor matrix

9606:FREM1
gene id: 9606:FREM1
uniprot id: Q5H8C1
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the FRAS1 family.
messages: Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.
messages: Interacts with FREM2.
messages: The Calx-beta domain binds calcium with high affinity and undergo a major conformational shift upon binding.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Was termed QBRICK because it contains 12 repeats: 'Q' stands for queen and is taken from the queen being the 12th in a suit of playing card, and 'BRICK' stands for the repeating unit.
messages: basement membrane

9606:GATC
gene id: 9606:GATC
uniprot id: O43716
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).
messages: Belongs to the GatC family.
messages: Mitochondrion
messages: Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This protein may be expected to contain an N-terminal transit peptide but none has been predicted.

9606:HLA-DQB1
gene id: 9606:HLA-DQB1
uniprot id: P01920
uniprot id: Q5SU54
uniprot id: Q5Y7A9
uniprot id: Q5Y7D6
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MHC class II family.
messages: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-ce…
messages: Cell membrane
messages: DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to narcolepsy. DQB1*06:02 has been found to be present in most of the narcolepsy patients. As well 98% of the patients with an HCRT deficiency are positive for DQB1*06:02.
messages: DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02).
messages: Endoplasmic reticulum membrane
messages: Endosome membrane
messages: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of antigenic peptides.
messages: Lysosome membrane
messages: The following alleles of HLA-DQB1 are known: DQB1*02:01, DQB1*02:02, DQB1*02:03, DQB1*02:04, DQB1*02:05, DQB1*03:01, DQB1*03:02, DQB1*03:03, DQB1*03:04, DQB1*03:05, DQB1*03:06, DQB1*03:07, DQB1*03:08, DQB1*03:09, DQB1*03:10, DQB1*03:11, DQB1*03:12, DQB1*03:13, DQB1*03:14, DQB1*03:15, DQB1*03:16, DQB1*03:17, DQB1*03:18, DQB1*03:19, DQB1*03:20, DQB1*03:21, DQB1*03:22, DQB1*03:23, DQB1*03:24, DQB1*03:25, DQB1*03:26, DQB1*04:01, DQB1*04:02, DQB1*04:03, DQB1*05:01, DQB1*05:02, DQB1*05:03, DQB1*05:04, DQB1*05:05, DQB1*06:01, DQB1*06:02, DQB1*06:03, DQB1*06:04, DQB1*06:05, DQB1*06:06, DQB1*06:07, DQB1*06:08, DQB1*06:09, DQB1*06:10, DQB1*06:11, DQB1*06:12, DQB1*06:13, DQB1*06:14, DQB1*06:15, DQB1*06:16, DQB1*06:17, DQB1*06:18, DQB1*06:19, DQB1*06:20, DQB1*06:21, DQB1*06:22, DQB1*06:23, DQB1*06:24, DQB1*06:25, DQB1*06:27, DQB1*06:28, DQB1*06:29, DQB1*06:30, DQB1*06:31, DQB1*06:32, DQB1*06:33, DQB1*06:34, DQB1*06:35, DQB1*06:36, DQB1*06:37, DQB1*06:38, and DQB1*06:39. The sequence shown is that of DQB1*03:01.
messages: trans-Golgi network membrane

9606:ZNF324B
gene id: 9606:ZNF324B
uniprot id: Q6AW86
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:PRDM9
gene id: 9606:PRDM9
uniprot id: Q9NQV7
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily.
messages: Chromosome
messages: Histone methyltransferase that sequentially mono-, di-, and tri-methylates both 'Lys-4' (H3K4) and 'Lys-36' (H3K36) of histone H3 to produce respectively trimethylated 'Lys-4' (H3K4me3) and trimethylated 'Lys-36' (H3K36me3) histone H3 and plays a key role in meiotic prophase by determining hotspot localization thereby promoting meiotic recombination (PubMed:24634223, PubMed:24095733, PubMed:26833727, PubMed:27129774). Can also methylate all four core histones with H3 being the best substrate and the most highly modified (PubMed:24095733, PubMed:24634223, PubMed:26833727). Is also able, on one hand, to mono and di-methylate H4K20 and on other hand to trimethylate H3K9 with the di-methylated H3K9 as the best substrate (By similarity). During meiotic prophase, binds specific DNA sequences through its zinc finger domains thereby determining hotspot localization where it promotes local H3K4me3 and H3K36me3 enrichment on the same nucleosomes through its histone methyltransferase activity (PubMed:26833727). Thereby promotes double-stranded breaks (DSB) formation, at this subset of PRDM9-binding sites, that initiates meiotic recombination for the proper meiotic progression (By similarity). During meiotic progression hotspot-bound PRDM9 interacts with several complexes; in early leptonema binds CDYL and EHMT2 followed by EWSR1 and CXXC1 by the end of leptonema. EWSR1 joins PRDM9 with the chromosomal axis through REC8 (By similarity). In this way, controls the DSB repair pathway, pairing of homologous chromosomes and sex body formation (By similarity). Moreover plays a central role in the transcriptional activation of genes during early meiotic prophase thanks to H3K4me3 and H3K36me3 enrichment that represents a specific tag for epigenetic transcriptional activation (By similarity). In addition performs automethylation (By similarity). Acetylation and phosphorylation of histone H3 attenuate or prevent histone H3 methylation (By similarity).
messages: Homodimer (PubMed:26833727, PubMed:24095733, Ref.10). Interacts with EHMT2 and CDYL; interaction only takes place when PRDM9 is bound to hotspot DNA. Interacts with CXXC1; this interaction does not link PRDM9-activated recombination hotspot sites with DSB machinery and is not required for the hotspot recognition pathway. Forms a complex with EWSR1, REC8, SYCP3 and SYCP1; complex formation is dependent of phosphorylated form of REC8 and requires PRDM9 bound to hotspot DNA; EWSR1 joins PRDM9 with the chromosomal axis through REC8 (By similarity).
messages: Inhibited by suramin with an IC(50) of 4.1 uM.
messages: Mono-methylated; automethylated. Tri-methylated; automethylated. Mono-methylation is predominant; automethylation is lower and slower than H3 peptide methylation and is in a highest S-adenosyl-L-methionine concentration-dependent. There are two major sites for automethylation at Lys-368 and Lys-374. Lysines can be simultaneously methylated, such as Lys-368(me3)/Lys-372(me1), Lys-368(me1)/Lys-374(me1) and Lys-368(me1)/Lys-372(me1)/Lys-374(me1). Automethylation is an intramolecular (cis) process.
messages: Nucleus
messages: Several alleles exist depending on both the number of zinc finger C2H2 type domains and their identity (PubMed:26833727). Each allele binds to a specific hotspot set (PubMed:26833727). Variations in the zinc finger C2H2 type domains are associated with significant differences in affinity towards DNA-binding motif (PubMed:26833727). The sequence shown is that of allele B.
messages: The C2H2-type zinc fingers determine the hotspot localization through its binding to specific DNA sequences. Variations in their sequence affect affinity towards DNA-binding motif.

9606:HFM1
gene id: 9606:HFM1
uniprot id: A2PYH4
names: Disease Annotation
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the helicase family. SKI2 subfamily.
messages: Preferentially expressed in testis and ovary.
messages: Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:NHEJ1
gene id: 9606:NHEJ1
uniprot id: Q9H9Q4
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation t(2;7)(q35;p22).
messages: Belongs to the XRCC4-XLF family. XLF subfamily.
messages: Chromosome
messages: DNA repair protein involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:16439204, PubMed:16439205, PubMed:17717001, PubMed:17317666, PubMed:17470781, PubMed:18644470, PubMed:20558749, PubMed:26100018, PubMed:18158905). Plays a key role in NHEJ by promoting the ligation of various mismatched and non-cohesive ends (PubMed:17717001, PubMed:17470781, PubMed:19056826). Together with PAXX, collaborates with DNA polymerase lambda (POLL) to promote joining of non-cohesive DNA ends (PubMed:30250067, PubMed:25670504). May act in concert with XRCC5-XRCC6 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are non-complementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17317666, PubMed:17470781). Associates with XRCC4 to form alternating helical filaments that bridge DNA and act like a bandage, holding together the broken DNA until it is repaired (PubMed:22228831, PubMed:26100018, PubMed:28500754, PubMed:27437582, PubMed:21775435, PubMed:22287571, PubMed:21768349). The XRCC4-NHEJ1/XLF subcomplex binds to the DNA fragments of a DSB in a highly diffusive manner and robustly bridges two independent DNA molecules, holding the broken DNA fragments in close proximity to one other (PubMed:28500754, PubMed:27437582). The mobility of the bridges ensures that the ends remain accessible for further processing by other repair factors (PubMed:27437582). Binds DNA in a length-dependent manner (PubMed:17317666, PubMed:18158905).
messages: Homodimer; mainly exists as a homodimer when not associated with XRCC4 (PubMed:18046455, PubMed:25574025, PubMed:25670504, PubMed:25941166, PubMed:18158905). Interacts with XRCC4; the interaction is direct and is mediated via a head-to-head interaction between N-terminal head regions (PubMed:16439205, PubMed:20558749, PubMed:22228831, PubMed:26100018, PubMed:18158905, PubMed:21936820, PubMed:21775435, PubMed:22287571, PubMed:21768349, PubMed:27437582). Component of the core long-range non-homologous end joining (NHEJ) complex (also named DNA-PK complex) composed of PRKDC, LIG4, XRCC4, XRCC6/Ku70, XRCC5/Ku86 and NHEJ1/XLF (PubMed:16571728, PubMed:17317666, PubMed:33854234). Additional component of the NHEJ complex includes PAXX (PubMed:25574025, PubMed:25941166). Following autophosphorylation, PRKDC dissociates from DNA, leading to formation of the short-range NHEJ complex, composed of LIG4, XRCC4, XRCC6/Ku70, XRCC5/Ku86 and NHEJ1/XLF (PubMed:33854234). Interacts with POLL (DNA polymerase lambda); promoting POLL recruitment to double-strand breaks (DSBs) and stimulation of the end-filling activity of POLL (PubMed:30250067).
messages: Nucleus
messages: Phosphorylated by PRKDC at the C-terminus in response to DNA damage (PubMed:18644470, PubMed:22228831, PubMed:28500754). Phosphorylations by PRKDC at the C-terminus of XRCC4 and NHEJ1/XLF are highly redundant and regulate ability of the XRCC4-NHEJ1/XLF subcomplex to bridge DNA (PubMed:22228831, PubMed:28500754). Phosphorylation does not prevent interaction with XRCC4 but disrupts ability to bridge DNA and promotes detachment from DNA (PubMed:22228831, PubMed:28500754).
messages: The Leu-lock (Leu-115) site inserts into a hydrophobic pocket in XRCC4.
messages: The coiled-coil region mediates homodimerization.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed.
messages: Was named 'Cernunnos' after the enigmatic Celtic god of hunting, the underworld and fertility.

9606:IER5
gene id: 9606:IER5
uniprot id: Q5VY09
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the IER family.
messages: Cytoplasm
messages: Expressed in acute myeloid leukemia (AML) cells.
messages: Monomer (PubMed:26496226). Homodimer (PubMed:26496226). Associates with the catalytic subunit of protein phosphatase PP2A (PubMed:25816751, PubMed:26496226). Interacts (via N- and C-terminal regions) with PPP2R2B (PubMed:25816751, PubMed:26496226). Interacts with PPP2R2A, PPP2R2C and PPP2R2D (PubMed:25816751). Interacts (via N-terminus) with RPS6KB1 (PubMed:26496226). Interacts (via central region) with HSF1; this interaction promotes PPP2CA-induced HSF1 dephosphorylation, leading to enhanced HSF1 transcriptional activity (PubMed:25816751, PubMed:26496226, PubMed:26754925).
messages: Nucleus
messages: Plays a role as a transcription factor (PubMed:22132193, PubMed:25355627). Mediates positive transcriptional regulation of several chaperone genes during the heat shock response in a HSF1-dependent manner (PubMed:25355627, PubMed:25816751). Mediates negative transcriptional regulation of CDC25B expression (PubMed:22132193). Plays a role in the dephosphorylation of the heat shock factor HSF1 and ribosomal protein S6 kinase (S6K) by the protein phosphatase PP2A (PubMed:25816751, PubMed:26496226). Involved in the regulation of cell proliferation and resistance to thermal stress (PubMed:22132193, PubMed:25355627, PubMed:26496226). Involved in the cell cycle checkpoint and survival in response to ionizing radiation (PubMed:19238419, PubMed:22132193). Associates with chromatin to the CDC25B promoter (PubMed:22132193).
messages: Up-regulated by heat shock in a heat shock HSF1-dependent manner (PubMed:25355627). Up-regulated by ionizing radiation (PubMed:19238419).

9606:SH2B2
gene id: 9606:SH2B2
uniprot id: O14492
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3.
messages: Belongs to the SH2B adapter family.
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in spleen, prostate, testis, uterus, small intestine and skeletal muscle. Among hematopoietic cell lines, expressed exclusively in B-cells. Not expressed in most tumor cell lines.
messages: Homodimer. Interacts with KIT/c-KIT, SHC1, EPOR, PDGFR, VAV1 and VAV3. Interacts (via N-terminal region) with SHC1. Interacts (via the phosphorylated C-terminus) with GRB2. Interacts (via its SH2 domain) with EPOR, INSR and KIT. Interacts with GRB2 after B-cell antigen receptor stimulation. Interacts (via PH domain) with VAV3. Interacts with NTRK1, NTRK2 and NTRK3 (phosphorylated); after stimulation of the receptor by its extracellular ligand and subsequent autophosphorylation of the receptor. Binds INSR, GRB2, ASB6 and CAP. Insulin stimulation leads to dissociation of CAP. Binds CBS only when SH2B2/APS has become phosphorylated. INSR binding does not depend on the phosphorylation of SH2B2/APS (By similarity).
messages: Tyrosine phosphorylated by JAK2, KIT and other kinases activated by B-cell receptor in response to stimulation with cytokines, IL3, IL5, PDGF, IGF1, IGF2, CSF2/GM-CSF and cross-linking of the B-cell receptor complex.

9606:RAPGEF3
gene id: 9606:RAPGEF3
uniprot id: O95398
names: Caution
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Endomembrane system
messages: Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the cAMP-induced dynamic control of endothelial barrier function through a pathway that is independent on Rho-mediated signaling. Required for the actin rearrangement at cell-cell junctions, such as stress fibers and junctional actin.
messages: Interacts with PDE3B and PIK3R6; form a signaling complex that regulates phosphatidylinositol 3-kinase gamma in angiogenesis.
messages: It is uncertain whether Met-1 or Met-43 is the initiator.
messages: The DEP domain is involved in membrane localization independent from regulation by cAMP.
messages: Widely expressed with highest levels in adult kidney, heart, thyroid and brain, and fetal kidney.

9606:ACSF2
gene id: 9606:ACSF2
uniprot id: B4DTB9
uniprot id: E9PF16
uniprot id: Q96CM8
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
messages: Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA (PubMed:17762044). Has some preference toward medium-chain substrates (PubMed:17762044). Plays a role in adipocyte differentiation (PubMed:16380219).
messages: Belongs to the ATP-dependent AMP-binding enzyme family.
messages: By PPARG.
messages: Mitochondrion

9606:TMEM18
gene id: 9606:TMEM18
uniprot id: Q96B42
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TMEM18 family.
messages: Cytoplasm
messages: Forms homooligomers, independently of the DNA-binding domain.
messages: Nucleus membrane
messages: Transcription repressor. Sequence-specific ssDNA and dsDNA binding protein, with preference for GCT end CTG repeats. Cell migration modulator which enhances the glioma-specific migration ability of neural stem cells (NSC) and neural precursor cells (NPC).

9606:TMEM127
gene id: 9606:TMEM127
uniprot id: O75204
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TMEM127 family.
messages: Cell membrane
messages: Consistent with the observation that mTORC1 signaling regulates cell growth and size in many species, TMEM127 knockdown cells are larger and proliferate at higher rates compared to control cell lines. In contrast, cell proliferation is reduced in cells overexpressing TMEM127 (PubMed:20154675).
messages: Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Widely expressed.

9606:TRIB1
gene id: 9606:TRIB1
uniprot id: Q96RU8
names: Domain
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Adapter protein involved in protein degradation by interacting with COP1 ubiquitin ligase (PubMed:27041596). The COP1-binding motif is masked by autoinhibitory interactions with the protein kinase domain (PubMed:26455797). Serves to alter COP1 substrate specificity by directing the activity of COP1 toward CEBPA (PubMed:27041596). Binds selectively the recognition sequence of CEBPA (PubMed:26455797). Regulates myeloid cell differentiation by altering the expression of CEBPA in a COP1-dependent manner (By similarity). Controls macrophage, eosinophil and neutrophil differentiation via the COP1-binding domain (By similarity). Interacts with MAPK kinases and regulates activation of MAP kinases, but has no kinase activity (PubMed:15299019, PubMed:26455797).
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily.
messages: Expressed in most human tissues with the highest levels in skeletal muscle, thyroid gland, pancreas, peripheral blood leukocytes, and bone marrow.
messages: Monomer (PubMed:26455797). Interacts (via protein kinase domain) with CEBPA (PubMed:20410507, PubMed:26455797). Interacts with COP1 (PubMed:20410507, PubMed:27041596).
messages: The C-terminus (351-372) is required for interaction with COP1 (PubMed:27041596).
messages: The COP1-binding motif (355-360) is required for regulation activity (By similarity).
messages: The protein kinase active site is incompatible with ATP binding and is inactive (PubMed:26455797).

9606:MEI1
gene id: 9606:MEI1
uniprot id: Q5TIA1
names: Disease Annotation
names: Function
names: Tissue Specificity
messages: Expressed predominantly in testis. Weakly expressed in spleen and thymus. Expressed in the ovaries, Fallopian tubes and uterus (PubMed:30388401).
messages: Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity).
messages: Susceptibility to azoospermia may be associated with MEI1 variations.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:BCL2A1
gene id: 9606:BCL2A1
uniprot id: Q16548
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Bcl-2 family.
messages: By phorbol ester and inflammatory cytokines, such as TNF or IL1B/interleukin-1 beta, but not by growth factors.
messages: Cytoplasm
messages: Interacts directly with BAK1, BID, BMF and BBC3 (By similarity). Interacts directly with BCL2L11/BIM. Interacts with BAX isoform Sigma. Interacts directly with PMAIP1. Interacts with RTL10/BOP. Interacts with ING4 (By similarity). Interacts with UBQLN4 (PubMed:34245648).
messages: Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity).
messages: Seems to be restricted to the hematopoietic compartment. Expressed in peripheral blood, spleen, and bone marrow, at moderate levels in lung, small intestine and testis, at a minimal levels in other tissues. Also found in vascular smooth muscle cells and hematopoietic malignancies.

9606:C5orf15
gene id: 9606:C5orf15
uniprot id: Q8NC54
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Membrane
messages: Widely expressed.

9606:LRRC19
gene id: 9606:LRRC19
uniprot id: Q9H756
names: Activity Regulation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by TLR ligands such as LPS, bacterial DNA and peptidoglycan.
messages: Expressed in renal collecting duct epithelial cells.
messages: Interacts with TRAF2 and TRAF6.
messages: Membrane
messages: Pathogen-recognition receptor which mediates the activation of TRAF2- and TRAF6 NF-kappa-B signaling pathways and induces the expression of pro-inflammatory cytokines (PubMed:19679103, PubMed:25026888). In kidney, prevents infection by uropathogenic bacteria by inducing the production of cytokines, chemokines and antimicrobial substances. In gut, involved in host-microbiota interactions, plays a critical role in promoting the recruitment of immune cells and intestinal inflammation (By similarity).

9606:ZNF510
gene id: 9606:ZNF510
uniprot id: Q9Y2H8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:SOD1
gene id: 9606:SOD1
uniprot id: P00441
uniprot id: V9HWC9
names: Cofactor
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Cu-Zn superoxide dismutase family.
messages: Binds 1 copper ion per subunit.
messages: Binds 1 zinc ion per subunit.
messages: Cytoplasm
messages: Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
messages: Homodimer; non-disulfide-linked. Homodimerization may take place via the ditryptophan cross-link at Trp-33. The pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 interact with RNF19A, whereas wild-type protein does not. The pathogenic variants ALS1 Arg-86 and Ala-94 interact with MARCH5, whereas wild-type protein does not.
messages: Mitochondrion
messages: Nucleus
messages: Palmitoylation helps nuclear targeting and decreases catalytic activity.
messages: Succinylation, adjacent to copper catalytic site, probably inhibits activity. Desuccinylation by SIRT5 enhances activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.
messages: The protein (both wild-type and ALS1 variants) has a tendency to form fibrillar aggregates in the absence of the intramolecular disulfide bond or of bound zinc ions. These aggregates may have cytotoxic effects. Zinc binding promotes dimerization and stabilizes the native form.
messages: Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation.

9606:RNF115
gene id: 9606:RNF115
uniprot id: Q9Y4L5
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: E3 ubiquitin-protein ligase that mediates E2-dependent, 'Lys-48'- and/or 'Lys-63'-linked polyubiquitination of substrates and may play a role in diverse biological processes. Through their polyubiquitination, may play a role in the endosomal trafficking and degradation of membrane receptors including EGFR, FLT3, MET and CXCR4.
messages: Expressed at extremely low levels in normal breast, prostate, lung, colon. Higher levels of expression are detected in heart, skeletal muscle, testis as well as in breast and prostate cancer cells.
messages: Interacts with RAB7A. Interacts with EGFR and FLT3.
messages: RING-type zinc finger-dependent and E2-dependent autoubiquitination.
messages: cytosol

9606:ARL6IP1
gene id: 9606:ARL6IP1
uniprot id: Q15041
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ARL6ip family.
messages: Down-regulated by apoptotic stimuli.
messages: Down-regulated during myeloid differentiation.
messages: Endomembrane system
messages: Endoplasmic reticulum
messages: Endoplasmic reticulum membrane
messages: Expressed in all hematopoietic cell lineages, but the highest level of expression is found in early myeloid progenitor cells. Expressed in brain, bone marrow, thymus and lung. Expressed at low level in liver, kidney and spleen. Not detected in heart.
messages: Homooligomer (PubMed:24262037). Heterodimer with ARL6IP5. Interacts with ARL6 (By similarity). Interacts with TMEM33 (PubMed:25612671). Interacts with ATL1 (PubMed:24262037).
messages: Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules (PubMed:24262037). Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself (PubMed:12754298). May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation (PubMed:10995579).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The transmembrane domains are required for its ability to shape the endoplasmic reticulum membrane into tubules.

9606:RPF1
gene id: 9606:RPF1
uniprot id: Q9H9Y2
names: Function
names: Subcellular Location Annotation
messages: May be required for ribosome biogenesis.
messages: nucleolus

9606:SLC46A1
gene id: 9606:SLC46A1
uniprot id: A0A024QZ15
uniprot id: A0A024QZ44
uniprot id: Q96NT5
names: Activity Regulation
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Basolateral cell membrane
messages: Belongs to the major facilitator superfamily. SLC46A family.
messages: Cell membrane
messages: Constitutes an important route for the delivery of antifolate drugs, such as methotrexate and pemetrexed, in cancer chemotherapy (PubMed:18524888, PubMed:34040256). Ubiquitously expressed in solid tumors to which it delivers antifolates: within the acid microenvironment of cancer cells, antifolate drugs uptake mediated by SLC46A1/PCFT is increased (PubMed:18524888, PubMed:34040256).
messages: Cytoplasm
messages: Endosome membrane
messages: Expressed at highest level in the upper half of the small intestine (duodenum and jejunum), expression decreases downwardly in the subsequent quarter and is undetectable in the last quarter (the lowest ileum) (PubMed:17129779, PubMed:19762432). Also expressed in kidney, liver, placenta, spleen, retina and retinal pigment epithelium (PubMed:17129779, PubMed:17335806). Lower levels found in testis (PubMed:17129779). Very low levels in brain, lung, stomach, heart and muscle (PubMed:17129779).
messages: Inactive isoform which is not able to mediate proton-coupled folate transport.
messages: Inhibited by myricetin.
messages: Membrane
messages: Monomer.
messages: Proton-coupled folate symporter that mediates folate absorption using an H(+) gradient as a driving force (PubMed:17129779, PubMed:17446347, PubMed:17475902, PubMed:19389703, PubMed:19762432, PubMed:25504888, PubMed:30858177, PubMed:31792273, PubMed:34619546, PubMed:29344585, PubMed:31494288, PubMed:32893190). Involved in the intestinal absorption of folates at the brush-border membrane of the proximal jejunum, and the transport from blood to cerebrospinal fluid across the choroid plexus (PubMed:17129779, PubMed:17446347, PubMed:17475902, PubMed:19389703, PubMed:25504888, PubMed:30858177, PubMed:29344585, PubMed:31494288, PubMed:32893190). Functions at acidic pH via alternate outward- and inward-open conformation states (PubMed:34040256, PubMed:32893190). Protonation of residues in the outward open state primes the protein for transport (PubMed:34040256). Binding of folate promotes breaking of salt bridge network and subsequent closure of the extracellular gate, leading to the inward-open state and release of protons and folate (PubMed:34040256). Also able to transport antifolate drugs, such as methotrexate and pemetrexed, which are established treatments for cancer and autoimmune diseases (PubMed:18524888, PubMed:19762432, PubMed:25608532, PubMed:28802835, PubMed:29326243, PubMed:34619546, PubMed:34040256, PubMed:22345511). Involved in FOLR1-mediated endocytosis by serving as a route of export of folates from acidified endosomes (PubMed:19074442). Also acts as a lower-affinity, pH-independent heme carrier protein and constitutes the main importer of heme in the intestine (PubMed:17156779). Imports heme in the retina and retinal pigment epithelium, in neurons of the hippocampus, in hepatocytes and in the renal epithelial cells (PubMed:32621820). Hence, participates in the trafficking of heme and increases intracellular iron content (PubMed:32621820).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:LACTB
gene id: 9606:LACTB
uniprot id: P83111
names: Caution
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S12 family.
messages: Down-regulated in a number of cancer cells.
messages: Expressed predominantly in skeletal muscle.
messages: Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism (PubMed:28329758). Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism (PubMed:28329758). It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein (PubMed:28329758). Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cells: probably by promoting decreased levels of PISD, thereby affecting mitochondrial lipid metabolism (PubMed:28329758).
messages: Mitochondrion
messages: Was originally identified as mitochondrial large ribosomal subunit protein mL56 (MRP-L56) (PubMed:11551941), but has since been shown to localize to the mitochondrial intermembrane space where it forms filaments (PubMed:19858488).

9606:RUSF1
gene id: 9606:RUSF1
uniprot id: A0A024QZE6
uniprot id: Q96GQ5
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the RUS1 family.
messages: Membrane

9606:ACAP2
gene id: 9606:ACAP2
uniprot id: Q15057
names: Activity Regulation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Endosome membrane
messages: GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid.
messages: GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6).
messages: Interacts with RAB35 (GTP-bound form); the interaction is direct and probably recruits ACAP2 to membranes. Interacts with MICALL1; the interaction is indirect through RAB35 (By similarity).
messages: Widely expressed. Highest level in lung.

9606:LRIG3
gene id: 9606:LRIG3
uniprot id: Q6UXM1
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Interacts with EGFR, ERBB2 and ERBB4 (in vitro).
messages: May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression of NTN1 (By similarity).
messages: Widely expressed.

9606:SLC38A9
gene id: 9606:SLC38A9
uniprot id: Q8NBW4
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Amino acid transport activity is increased by sodium (PubMed:25561175, PubMed:31295473). Transport of L-glutamine, leucine and tyrosine is increased by arginine binding (PubMed:29053970, PubMed:31295473).
messages: Associated component of the Ragulator complex (composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5) (PubMed:25561175, PubMed:32868926, PubMed:28336668, PubMed:25567906, PubMed:29053970). Associated component of the Rag GTPases heterodimers (composed of RRAGA, RRAGB, RRAGC and RRAGD); this interaction is independent of the Ragulator complex but depends on the nucleotide loading state of the Rag GTPase heterodimer (PubMed:25561175, PubMed:32868926, PubMed:28336668, PubMed:30181260, PubMed:25567906, PubMed:29053970). Interacts with TM4SF5 (PubMed:30956113). Interacts with NPC1; this interaction inhibits cholesterol-mediated mTORC1 activation via its sterol transport activity (PubMed:28336668).
messages: Belongs to the amino acid/polyamine transporter 2 family. SLC38A9 subfamily.
messages: Glycosylated.
messages: Late endosome membrane
messages: Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acid levels (PubMed:25567906, PubMed:25561175, PubMed:29053970). Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:25567906, PubMed:29053970). Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated (PubMed:25567906, PubMed:25561175). SLC38A9 mediates transport of amino acids with low capacity and specificity with a slight preference for polar amino acids (PubMed:25561175, PubMed:25567906). Acts as an arginine sensor (PubMed:25567906, PubMed:29053970, PubMed:31295473). Following activation by arginine binding, mediates transport of L-glutamine, leucine and tyrosine with high efficiency, and is required for the efficient utilization of these amino acids after lysosomal protein degradation (PubMed:29053970) (Probable). The transport is most active at acidic pH (PubMed:25561175, PubMed:31295473). Can disassemble the lysosomal folliculin complex (LFC), and thereby triggers GAP activity of FLCN:FNIP2 toward RRAGC (PubMed:32868926). Acts as an cholesterol sensor that conveys increases in lysosomal cholesterol, leading to lysosomal recruitment and activation of mTORC1 via the Rag GTPases (PubMed:28336668). Guanine exchange factor (GEF) that, upon arginine binding, stimulates GDP release from RRAGA and therefore activates the Rag GTPase heterodimer and the mTORC1 pathway in response to nutrient sufficiency (PubMed:30181260).
messages: Lysosome membrane
messages: The cytosolic N-terminus part of the protein mediates interaction with the Ragulator complex (PubMed:25561175, PubMed:25567906). The cytosolic N-terminus part of the protein destabilizes the LFC and thereby triggers GAP activity of FLCN:FNIP2 toward RRAGC (PubMed:32868926). The cytosolic N-terminus part of the protein mediates interaction with the Rag GTPase heterodimer in a RRAGA GDP-loaded state dependent and upon arginine binding, leading to the GDP release and SLC38A9 dissociation from the activated Rag GTPase heterodimer (PubMed:30181260, PubMed:25561175, PubMed:25567906). The cytosolic N-terminus part of the protein exists at least in two distinct conformations; The first is when the N-terminus is bound snugly in the arginine binding site (in the absence of arginine, low luminal arginine state) and the second is where the N-terminus is released and the substrate-binding site is occupied by arginine (in the presence of arginine, high luminal arginine state) (By similarity).

9606:MED22
gene id: 9606:MED22
uniprot id: A0A024R8C5
uniprot id: Q15528
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Mediator complex subunit 22 family.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
messages: Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP.
messages: Nucleus

9606:GABPB1
gene id: 9606:GABPB1
uniprot id: Q06547
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Necessary for the expression of the Adenovirus E4 gene.
messages: Acetylated by EP300/p300. Deacetylated by SIRT7, promoting heterotetramerization and activity.
messages: Heterotetramer of two alpha and two beta subunits (PubMed:7799916). Interacts with HCFC1, causing repression of transcriptional activity (PubMed:10675337).
messages: Nucleus
messages: Transcription factor capable of interacting with purine rich repeats (GA repeats) (PubMed:8441384, PubMed:10675337, PubMed:8816484). Acts as a a master regulator of nuclear-encoded mitochondrial genes (By similarity).

9606:RAVER2
gene id: 9606:RAVER2
uniprot id: Q9HCJ3
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts with PTBP1 and RAVER1.
messages: May bind single-stranded nucleic acids.
messages: Nucleus

9606:SYTL3
gene id: 9606:SYTL3
uniprot id: Q4VX76
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Endomembrane system
messages: May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids in the presence of calcium ions (By similarity).
messages: Monomer. Binds NRXN1. Binds RAB27A that has been activated by GTP-binding via its N-terminus (By similarity).

9606:GARS1
gene id: 9606:GARS1
uniprot id: P41250
names: Activity Regulation
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Ap4A synthesis is inhibited by tRNA, via the disruption of the second ATP-binding site by direct blocking and/or by tRNA-induced conformational change.
messages: Belongs to the class-II aminoacyl-tRNA synthetase family.
messages: Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:28675565, PubMed:24898252). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis (PubMed:19710017).
messages: Cytoplasm
messages: Expressed in brain, spinal cord, muscle, heart and spleen.
messages: Expressed in brain, spinal cord, muscle, heart, spleen and liver.
messages: Homodimer.
messages: Human GlyRS uses direct ATP condensation to synthesize Ap4A, a unique amino acid-independent mechanism, in contrast to the classical amino acid-dependent mechanism for synthesis of Ap4A by a tRNA synthetase, that involves the generation of an enzyme-bound aminoacyl-AMP which is then attacked by ATP to form Ap4A.
messages: Mitochondrion
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The isoform 2 translation is regulated by an Internal Ribosome Entry Site (IRES) and an upstream Open Reading Frame. Both are important in hindering the synthesis of the mitochondrial GARS and target the translation of the cytosolic enzyme to ER-bound ribosomes.
messages: Widely expressed, including in brain and spinal cord.
messages: axon
messages: extracellular exosome

9606:CDPF1
gene id: 9606:CDPF1
uniprot id: Q6NVV7
names: Similarity
messages: Belongs to the CDPF1 family.

9606:PIN1
gene id: 9606:PIN1
uniprot id: Q13526
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in immune cells in the lung (at protein level) (PubMed:29686383). The phosphorylated form at Ser-71 is expressed in normal breast tissue cells but not in breast cancer cells.
messages: Interacts with STIL (By similarity). Interacts with KIF20B (PubMed:11470801). Interacts with NEK6 (PubMed:16476580). Interacts (via WW domain) with PRKX (PubMed:19367327). Interacts with BTK (PubMed:16644721). Interacts (via PpiC domain) with DAPK1 (PubMed:21497122). Interacts with the phosphorylated form of RAF1 (PubMed:15664191). Interacts (via WW domain) with ATCAY; upon NGF stimulation (PubMed:18628984). Interacts with PML (isoform PML-4) (PubMed:22033920). Interacts with BCL6 (PubMed:17828269). Interacts with FBXW7, disrupting FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923). Directly interacts with RBBP8/CtIP; this interaction depends upon RBBP8 phosphorylation (PubMed:23623683). Interacts (via WW domain) with IRAK3/IRAK-M (when phosphorylated at 'Ser-110') in response to IL33-mediated (but not TLR4 ligand LPS) dendritic cell stimulation (PubMed:29686383).
messages: Nucleus
messages: Nucleus speckle
messages: Peptidyl-prolyl cis/trans isomerase (PPIase) that binds to and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr-Pro) motifs (PubMed:21497122, PubMed:23623683, PubMed:29686383). By inducing conformational changes in a subset of phosphorylated proteins, acts as a molecular switch in multiple cellular processes (PubMed:21497122, PubMed:22033920, PubMed:23623683). Displays a preference for acidic residues located N-terminally to the proline bond to be isomerized. Regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Down-regulates kinase activity of BTK (PubMed:16644721). Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation (PubMed:15664191). Binds and targets PML and BCL6 for degradation in a phosphorylation-dependent manner (PubMed:17828269). Acts as a regulator of JNK cascade by binding to phosphorylated FBXW7, disrupting FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation: degradation of FBXW7 leads to subsequent stabilization of JUN (PubMed:22608923). May facilitate the ubiquitination and proteasomal degradation of RBBP8/CtIP through CUL3/KLHL15 E3 ubiquitin-protein ligase complex, hence favors DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:23623683, PubMed:27561354). Upon IL33-induced lung inflammation, catalyzes cis-trans isomerization of phosphorylated IRAK3/IRAK-M, inducing IRAK3 stabilization, nuclear translocation and expression of pro-inflammatory genes in dendritic cells (PubMed:29686383).
messages: Phosphorylation at Ser-71 by DAPK1 results in inhibition of its catalytic activity, nuclear localization, and its ability to induce centrosome amplification, chromosome instability and cell transformation (PubMed:21497122). Ser-71 is dephosphorylated upon IL33-stimulation of dendritic cells (By similarity).
messages: The WW domain is required for the interaction with STIL and KIF20B.

9606:MIF
gene id: 9606:MIF
uniprot id: I4AY87
uniprot id: P14174
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MIF family.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Homotrimer (PubMed:8610159, PubMed:23776208). Interacts with CXCR2 extracellular domain (By similarity). Interacts with the CD74 extracellular domain, USO1, COPS5 and BNIPL (PubMed:11089976, PubMed:12681488, PubMed:12782713, PubMed:19454686, PubMed:23776208).
messages: Pro-inflammatory cytokine involved in the innate immune response to bacterial pathogens (PubMed:15908412, PubMed:17443469, PubMed:23776208). The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense (PubMed:15908412, PubMed:17443469, PubMed:23776208). Counteracts the anti-inflammatory activity of glucocorticoids (PubMed:15908412, PubMed:17443469, PubMed:23776208). Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known (PubMed:11439086, PubMed:17526494). It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity (PubMed:11439086, PubMed:17526494).
messages: Secreted
messages: Serum levels of MIF are elevated in patients with severe sepsis or septic shock. High levels of MIF are correlated with low survival. Drugs that inhibit tautomerase activity protect against death due to sepsis.
messages: Up-regulated in concanavalin-A-treated lymphocytes. Up-regulated in macrophages upon exposure to M.tuberculosis antigens.

9606:ZNF79
gene id: 9606:ZNF79
uniprot id: Q15937
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:APEX1
gene id: 9606:APEX1
uniprot id: P27695
uniprot id: Q5TZP7
names: Activity Regulation
names: Cofactor
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylated on Lys-6 and Lys-7. Acetylation is increased by the transcriptional coactivator EP300 acetyltransferase, genotoxic agents like H(2)O(2) and methyl methanesulfonate (MMS). Acetylation increases its binding affinity to the negative calcium response element (nCaRE) DNA promoter. The acetylated form induces a stronger binding of YBX1 to the Y-box sequence in the MDR1 promoter than the unacetylated form. Deacetylated on lysines. Lys-6 and Lys-7 are deacetylated by SIRT1.
messages: Belongs to the DNA repair enzymes AP/ExoA family.
messages: Cleaved at Lys-31 by granzyme A to create the mitochondrial form; leading in reduction of binding to DNA, AP endodeoxynuclease activity, redox activation of transcription factors and to enhanced cell death. Cleaved by granzyme K; leading to intracellular ROS accumulation and enhanced cell death after oxidative stress.
messages: Cys-65 and Cys-93 are nitrosylated in response to nitric oxide (NO) and lead to the exposure of the nuclear export signal (NES).
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Extract of mitochondria, but not of nuclei or cytosol, cleaves recombinant APEX1 to generate a mitochondrial APEX1-sized product (By similarity). The specific activity of the cleaved mitochondrial endodeoxyribonuclease appeared to be about 3-fold higher than that of the full-length form.
messages: Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends.
messages: Mitochondrion
messages: Monomer. Homodimer; disulfide-linked. Component of the SET complex, composed of at least APEX1, SET, ANP32A, HMGB2, NME1 and TREX1. Associates with the dimer XRCC5/XRCC6 in a DNA-dependent manner. Interacts with SIRT1; the interaction is increased in the context of genotoxic stress. Interacts with HDAC1, HDAC2 and HDAC3; the interactions are not dependent on the APEX1 acetylation status. Interacts with XRCC1; the interaction is induced by SIRT1 and increased with the APEX1 acetylated form. Interacts with NPM1 (via N-terminal domain); the interaction is RNA-dependent and decreases in hydrogen peroxide-damaged cells. Interacts (via N-terminus) with YBX1 (via C-terminus); the interaction is increased in presence of APEX1 acetylated at Lys-6 and Lys-7. Interacts with HNRNPL; the interaction is DNA-dependent. Interacts (via N-terminus) with KPNA1 and KPNA2. Interacts with TXN; the interaction stimulates the FOS/JUN AP-1 complex DNA-binding activity in a redox-dependent manner. Interacts with GZMA, KRT8, MDM2, POLB, PRDX6, PRPF19, RPLP0, TOMM20 and WDR77. Binds to CDK5.
messages: Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors. Functions as a apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Does also incise at AP sites in the DNA strand of DNA/RNA hybrids, single-stranded DNA regions of R-loop structures, and single-stranded RNA molecules. Has a 3'-5' exoribonuclease activity on mismatched deoxyribonucleotides at the 3' termini of nicked or gapped DNA molecules during short-patch BER. Possesses a DNA 3' phosphodiesterase activity capable of removing lesions (such as phosphoglycolate) blocking the 3' side of DNA strand breaks. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. Acts as a loading factor for POLB onto non-incised AP sites in DNA and stimulates the 5'-terminal deoxyribose 5'-phosphate (dRp) excision activity of POLB. Plays a role in the protection from granzymes-mediated cellular repair leading to cell death. Also involved in the DNA cleavage step of class switch recombination (CSR). On the other hand, APEX1 also exerts reversible nuclear redox activity to regulate DNA binding affinity and transcriptional activity of transcriptional factors by controlling the redox status of their DNA-binding domain, such as the FOS/JUN AP-1 complex after exposure to IR. Involved in calcium-dependent down-regulation of parathyroid hormone (PTH) expression by binding to negative calcium response elements (nCaREs). Together with HNRNPL or the dimer XRCC5/XRCC6, associates with nCaRE, acting as an activator of transcriptional repr…
messages: NPM1 stimulates endodeoxyribonuclease activity on double-stranded DNA with AP sites, but inhibits endoribonuclease activity on single-stranded RNA containing AP sites.
messages: Nucleus
messages: Nucleus speckle
messages: Phosphorylated. Phosphorylation by kinase PKC or casein kinase CK2 results in enhanced redox activity that stimulates binding of the FOS/JUN AP-1 complex to its cognate binding site. AP-endodeoxyribonuclease activity is not affected by CK2-mediated phosphorylation. Phosphorylation of Thr-233 by CDK5 reduces AP-endodeoxyribonuclease activity resulting in accumulation of DNA damage and contributing to neuronal death.
messages: Probably binds two magnesium or manganese ions per subunit.
messages: The N-terminus contains the redox activity while the C-terminus exerts the DNA AP-endodeoxyribonuclease activity; both function are independent in their actions. An unconventional mitochondrial targeting sequence (MTS) is harbored within the C-terminus, that appears to be masked by the N-terminal sequence containing the nuclear localization signal (NLS), that probably blocks the interaction between the MTS and Tom proteins.
messages: Ubiquitinated by MDM2; leading to translocation to the cytoplasm and proteasomal degradation.
messages: Up-regulated in presence of reactive oxygen species (ROS), like bleomycin, H(2)O(2) and phenazine methosulfate.
messages: nucleolus

9606:FBLN7
gene id: 9606:FBLN7
uniprot id: Q53RD9
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation.
messages: Belongs to the fibulin family.
messages: Interacts with heparin, FBLN1, FN1 and DSPP. Preferentially binds dental mesenchyme cells and odontoblasts but not dental epithelial cells or nondental cells. Binding requires a heparan sulfate-containing receptor on the cell surface as well as an integrin (By similarity).
messages: N-glycosylated.
messages: extracellular matrix

9606:SYCP2L
gene id: 9606:SYCP2L
uniprot id: B4DFB8
uniprot id: Q5T4T6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SYCP2 family.
messages: Expressed in the ovary (at protein level).
messages: Nucleus
messages: Oocyte-specific protein that localizes to centromeres at the dictyate stage and regulates the survival of primordial oocytes.
messages: centromere

9606:ABCA4
gene id: 9606:ABCA4
uniprot id: P78363
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylethanolamine. Phospholipids translocase activity is highly reduced by berylium fluoride and aluminum floride. N-ethylmaleimide inhibits phospholipid translocase activity.
messages: Belongs to the ABC transporter superfamily. ABCA family.
messages: Cytoplasmic vesicle
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Endoplasmic reticulum
messages: Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like the 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where N-cis-retinylidene-phosphatidylethanolamine (N-cis-R-PE) is then isomerized to its all-trans isomer (N-trans-R-PE) and reduced by RDH8 to produce all-trans-retinol (all-trans-rol) and therefore prevents the accumulation of excess of 11-cis-retinal and its schiff-base conjugate and the formation of toxic bisretinoid (PubMed:24097981, PubMed:22735453, PubMed:23144455, PubMed:20404325, PubMed:10075733, PubMed:29847635, PubMed:33375396). May display both ATPase and GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds (PubMed:22735453). Binds the unprotonated form of N-retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP, and ATP binding and hydrolysis induce a protein conformational change that causes the dissociation of N-retinylidene-phosphatidylethanolamine (By similarity).
messages: Membrane
messages: N-glycosylated.
messages: Phosphorylation is independent of light exposure and modulates ATPase activity.
messages: Proteolytic cleavage by trypsin leads to a 120-kDa N-terminal fragment and a 115-kDa C-terminal fragment that are linked through disulfide bonds.
messages: Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The second extracellular domain (ECD2, aa 1395-1680) undergoes conformational change in response to its specific interaction with its substrate all-trans-retinal (PubMed:20404325). Nucleotide binding domain 1 (NBD1, aa 854-1375) binds preferentially and with high affinity with the 11-cis retinal (PubMed:23144455).
messages: photoreceptor outer segment

9606:ACADSB
gene id: 9606:ACADSB
uniprot id: A0A0S2Z3P9
uniprot id: P45954
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the acyl-CoA dehydrogenase family.
messages: Competitively inhibited by valproyl-CoA.
messages: Homotetramer.
messages: Mitochondrion matrix
messages: Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the removal of one hydrogen from C-2 and C-3 of the fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:7698750, PubMed:11013134, PubMed:21430231, PubMed:10832746). Among the different mitochondrial acyl-CoA dehydrogenases, acts specifically on short and branched chain acyl-CoA derivatives such as (S)-2-methylbutyryl-CoA as well as short straight chain acyl-CoAs such as butyryl-CoA (PubMed:7698750, PubMed:11013134, PubMed:21430231, PubMed:10832746). Plays an important role in the metabolism of L-isoleucine by catalyzing the dehydrogenation of 2-methylbutyryl-CoA, one of the steps of the L-isoleucine catabolic pathway (PubMed:11013134, PubMed:10832746). Can also act on valproyl-CoA, a metabolite of valproic acid, an antiepileptic drug (PubMed:8660691).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed.

9606:ALYREF
gene id: 9606:ALYREF
uniprot id: Q86V81
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HHV-1 ICP27 protein; this interaction recruits ALYREF to viral replication compartments and probably directs viral mRNA to the TAP/NFX1 pathway.
messages: (Microbial infection) Interacts with human Kaposi's sarcoma-associated herpesvirus (HHV-8) ORF57 protein; this interaction allows efficient export of HHV-8 early and late intronless transcripts.
messages: Acts as chaperone and promotes the dimerization of transcription factors containing basic leucine zipper (bZIP) domains and thereby promotes transcriptional activation.
messages: Antibodies against ALYREF/THOC4 are found in sera of patients with systemic lupus erythematosus (SLE).
messages: Arg-204 is dimethylated, probably to asymmetric dimethylarginine. Arginine methylation reduces RNA binding.
messages: Belongs to the ALYREF family.
messages: Citrullinated by PADI4.
messages: Cytoplasm
messages: Export adapter involved in nuclear export of spliced and unspliced mRNA. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NFX1 pathway) (PubMed:15833825, PubMed:15998806, PubMed:17190602, PubMed:11707413, PubMed:11675789, PubMed:11979277, PubMed:18364396, PubMed:22144908, PubMed:22893130, PubMed:23222130, PubMed:25662211). Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm (PubMed:15833825, PubMed:15998806, PubMed:17190602). TREX recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1 (PubMed:15833825, PubMed:15998806, PubMed:17190602). The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production; ALYREF/THOC4 mediates the recruitment of the TREX complex to the intronless viral mRNA (PubMed:18974867). Required for TREX complex assembly and for linking DDX39B to the cap-binding complex (CBC) (PubMed:15998806, PubMed:17984224). In conjunction with THOC5 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim (PubMed:19165146). Involved in the nuclear export of intronless mRNA; proposed to be recruited to intronless mRNA by ATP-bound DDX39B. Involved in transcription elongation and genome stability (PubMed:12438613, PubMed:17984224). Involved in mRNA export of C5-methylcytosine (m5C)-containing mRNAs: specifically recognizes and bi…
messages: Expressed in a wide variety of cancer types.
messages: Homomultimer. Is part of several complexes involved in mRNA processing and export. Component of the transcription/export (TREX) complex at least composed of ALYREF/THOC4, DDX39B, SARNP/CIP29, CHTOP and the THO subcomplex; TREX seems to have a dynamic structure involving ATP-dependent remodeling; in the complex interacts (via C-terminus) directly with DDX39B and interacts directly with THOC1 and THOC2. Found in mRNA splicing-dependent exon junction complexes (EJC). Identified in the spliceosome C complex. Found in a mRNP complex with UPF3A and UPF3B. Interacts with RBM8A, NCBP1, THOC5, LEF1, RUNX1, EIF4A3, RNPS1, SRRM1, IWS1 and EXOSC1. Interacts with RBM15B (PubMed:19586903). Interacts with NXF1; the interaction is direct.
messages: Nucleus
messages: Nucleus speckle

9606:RASGEF1B
gene id: 9606:RASGEF1B
uniprot id: Q0VAM2
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
messages: Early endosome
messages: Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro).
messages: Interacts with Ras family proteins (By similarity). Interacts with CCDC124 during cytokinesis.
messages: Late endosome
messages: Midbody
messages: Up-regulated in macrophages stimulated with IFNG, GPI-mucins or bacterial lipopolysaccharides (LPS).

9606:DCAF10
gene id: 9606:DCAF10
uniprot id: A0A0A0MQT4
uniprot id: Q5QP82
names: Function
names: Similarity
names: Subunit
messages: Belongs to the WD repeat DCAF10 family.
messages: Interacts with DDB1.
messages: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

9606:EVA1A
gene id: 9606:EVA1A
uniprot id: Q9H8M9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis.
messages: Belongs to the EVA1 family.
messages: Endoplasmic reticulum membrane
messages: Expressed in lung, kidney, liver, pancreas, placenta, but not in heart and skeletal muscle.
messages: Lysosome membrane

9606:LRRC17
gene id: 9606:LRRC17
uniprot id: Q8N6Y2
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in osteoblast cell lines. Well expressed in ovary, heart, pancreas, skeletal muscle, lung, and fetal kidney and lung and only at the basal levels in the other tissues examined including adult kidney. More expressed in S-type neuroblastoma cells than in N-type neuroblastoma cells.
messages: Involved in bone homeostasis. Acts as a negative regulator of RANKL-induced osteoclast precursor differentiation from bone marrow precursors (By similarity).
messages: extracellular space

9606:KCNJ8
gene id: 9606:KCNJ8
uniprot id: A0A024RAV6
uniprot id: Q15842
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family.
messages: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily.
messages: Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Membrane
messages: Predominantly detected in fetal and adult heart.
messages: The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
messages: This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity).

9606:AMY1C
gene id: 9606:AMY1C
uniprot id: P0DTE7
uniprot id: P0DTE8
uniprot id: P0DUB6
names: Caution
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glycosyl hydrolase 13 family.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Binds 1 Cl(-) ion per subunit.
messages: Calcium-binding enzyme that initiates starch digestion in the oral cavity (PubMed:12527308). Catalyzes the hydrolysis of internal (1->4)-alpha-D-glucosidic bonds, yielding a mixture of maltose, isomaltose, small amounts of glucose as well as small linear and branched oligosaccharides called dextrins (PubMed:12527308).
messages: Monomer.
messages: Secreted
messages: Three distinct genes (AMY1A, AMY1B and AMY1C), located in a gene cluster on 1p21, encode proteins sharing the same peptidic sequence.

9606:CHMP5
gene id: 9606:CHMP5
uniprot id: Q9NZZ3
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Stearoylated By S.flexneri N-epsilon-fatty acyltransferase IcsB, promoting S.flexneri evasion of autophagy.
messages: Belongs to the SNF7 family.
messages: Endosome membrane
messages: ISGylated. Isgylation inhibits its interaction with VTA1.
messages: Midbody
messages: Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses) (PubMed:14519844). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release (PubMed:14519844).
messages: Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. Interacts with VTA1; the interaction involves soluble CHMP5 (PubMed:15644320, PubMed:17261583, PubMed:21543490). Interacts with CHMP2A (PubMed:14519844). Interacts with NOD2 (PubMed:27812135).
messages: Up-regulated by muramyl-dipeptide and lipopolysaccharide.
messages: cytosol

9606:SLC9A7
gene id: 9606:SLC9A7
uniprot id: A0A024R176
uniprot id: A0A087WXD1
uniprot id: Q96T83
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
messages: Cell membrane
messages: Endosome membrane
messages: Interacts with SCAMP1, SCAMP2 and SCAMP5; may participate in its shuttling from trans-Golgi network to recycling endosomes.
messages: Is not inhibited by amiloride but by benzamil and quinine.
messages: Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to the regulation of Golgi apparatus volume and pH.
messages: Membrane
messages: N-glycosylated.
messages: Recycling endosome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed.
messages: trans-Golgi network membrane

9606:RPS13
gene id: 9606:RPS13
uniprot id: P62277
names: Similarity
messages: Belongs to the universal ribosomal protein uS15 family.

9606:ZFHX4
gene id: 9606:ZFHX4
uniprot id: E7EVZ1
uniprot id: Q86UP3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A chromosomal aberration involving ZFHX4 is found in one patient with ptosis. Translocation t(1;8)(p34.3;q21.12).
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed in brain, skeletal muscle and liver. Very low expression in stomach.
messages: May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation.
messages: Nucleus

9606:SERF1B
gene id: 9606:SERF1B
uniprot id: O75920
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SERF family.
messages: Interacts with SNCA; this interaction promotes the aggregation of SNCA.
messages: Isoform Long is predominantly expressed in heart, brain and skeletal muscle. Isoform Short and Isoform Long are expressed throughout the central nervous system, including spinal cord.
messages: Nucleus
messages: Positive regulator of amyloid protein aggregation and proteotoxicity (PubMed:20723760, PubMed:22854022, PubMed:31034892). Induces conformational changes in amyloid proteins, such as APP, HTT, and SNCA, driving them into compact formations preceding the formation of aggregates (PubMed:20723760, PubMed:22854022, PubMed:31034892).
messages: cytosol

9606:PEX16
gene id: 9606:PEX16
uniprot id: Q9Y5Y5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peroxin-16 family.
messages: Interacts with PEX19.
messages: Peroxisome membrane
messages: Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CLEC4E
gene id: 9606:CLEC4E
uniprot id: Q9ULY5
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system: recognizes damage-associated molecular patterns (DAMPs) of abnormal self and pathogen-associated molecular patterns (PAMPs) of bacteria and fungi (PubMed:18509109, PubMed:23602766). The PAMPs notably include mycobacterial trehalose 6,6'-dimycolate (TDM), a cell wall glycolipid with potent adjuvant immunomodulatory functions (PubMed:23602766, PubMed:24101491). Interacts with signaling adapter Fc receptor gamma chain/FCER1G to form a functional complex in myeloid cells (By similarity). Binding of mycobacterial trehalose 6,6'-dimycolate (TDM) to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes (By similarity). Also recognizes alpha-mannose residues on pathogenic fungi of the genus Malassezia and mediates macrophage activation (By similarity). Through recognition of DAMPs released upon nonhomeostatic cell death, enables immune sensing of damaged self and promotes inflammatory cell infiltration into the damaged tissue (By similarity).
messages: Cell membrane
messages: Expressed in monocytes and macrophages.
messages: Monomer and homodimer (PubMed:18509109). Interacts with signaling adapter Fc receptor gamma chain/FCER1G to form a functional complex; the interaction is direct (By similarity). Alternatively, acts as a bridge for interaction between CLEC4D and FCER1G. A heterodimer of CLEC4E and CLEC4D associates with FCER1G to form a functional complex (By similarity). Interacts with SAP130 nuclear protein that is released from necrotic cells; the interaction is direct (By similarity).
messages: phagocytic cup

9606:TMUB2
gene id: 9606:TMUB2
uniprot id: Q71RG4
names: Subcellular Location Annotation
messages: Membrane

9606:C1orf109
gene id: 9606:C1orf109
uniprot id: Q9NX04
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts with SPATA5, SPATA5L1 and CINP (PubMed:35354024). Does not associate with pre-60S ribosomal particles (PubMed:35354024).
messages: Involved in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024). Acts together with SPATA5, SPATA5L1 and CINP (PubMed:35354024).
messages: Nucleus
messages: Phosphorylated on serines by CK2 kinase.

9606:CELF3
gene id: 9606:CELF3
uniprot id: Q5SZQ8
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CELF/BRUNOL family.
messages: Cytoplasm
messages: Expressed in brain.
messages: Nucleus
messages: RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.
messages: The poly-Gln tract in AAK07474 may be polymorphic.

9606:OR2J1
gene id: 9606:OR2J1
uniprot id: Q9GZK6
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
messages: A stop codon in the gene coding for this protein at position Gln-194 is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:PTGIS
gene id: 9606:PTGIS
uniprot id: Q16647
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the cytochrome P450 family.
messages: Catalyzes the biosynthesis and metabolism of eicosanoids. Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2), a potent mediator of vasodilation and inhibitor of platelet aggregation (PubMed:18032380, PubMed:25623425, PubMed:12372404, PubMed:15115769). Additionally, displays dehydratase activity, toward hydroperoxyeicosatetraenoates (HPETEs), especially toward (15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate (15(S)-HPETE) (PubMed:17459323).
messages: Endoplasmic reticulum membrane
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate.

9606:SEMA7A
gene id: 9606:SEMA7A
uniprot id: B3KMH6
uniprot id: F5GYX3
uniprot id: O75326
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the semaphorin family.
messages: Cell membrane
messages: Detected in skin keratinocytes and on endothelial cells from skin blood vessels (at protein level). Expressed in fibroblasts, keratinocytes, melanocytes, placenta, testis, ovary, spleen, brain, spinal chord, lung, heart, adrenal gland, lymph nodes, thymus, intestine and kidney.
messages: Genetic variations in SEMA7A define the John Milton Hagen blood group system (JMH) [MIM:614745]. Three different JMH phenotypes have been identified based on the presence or absence of the high-frequency JMH antigen: JMH-weak, JMH-negative, and JMH-variant. The JMH-weak and -negative phenotypes can be either acquired or inherited and are characterized by a reduction or complete loss of JMH expression on red blood cells. Individuals with the JMH-variant phenotype are usually JMH-positive and have alloantibodies compatible with JMH-negative red blood cells. The JMH-variant phenotype results from rare SEMA7A missense variants.
messages: Interacts with ITGA1 and ITGB1 (Probable). Interacts with PLXNC1.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of pro-inflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated in UV-irradiated fibroblasts, but not in UV-irradiated keratinocytes.

9606:ADAMTSL1
gene id: 9606:ADAMTSL1
uniprot id: Q8N6G6
names: Caution
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.
messages: C-, N- and O-glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTSL1. Can also be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion.
messages: Disulfide bonds are present.
messages: Expressed primarily in adult skeletal muscle.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Monomer.
messages: extracellular matrix

9606:OGG1
gene id: 9606:OGG1
uniprot id: E5KPM5
uniprot id: E5KPM6
uniprot id: E5KPM7
uniprot id: E5KPM9
uniprot id: E5KPN0
uniprot id: E5KPN1
uniprot id: O15527
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the type-1 OGG1 family.
messages: DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion.
messages: Mitochondrion
messages: Nucleus
messages: Nucleus matrix
messages: Nucleus speckle
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.
messages: nucleoplasm

9606:MARCHF6
gene id: 9606:MARCHF6
uniprot id: O60337
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Auto-ubiquitinated, which results in proteasomal degradation.
messages: E3 ubiquitin-protein ligase that promotes 'Lys-48'-linked ubiquitination of target proteins, leading to their proteasomal degradation (PubMed:15673284). Promotes ubiquitination of DIO2, leading to its degradation (PubMed:19651899). Promotes ubiquitination of SQLE, leading to its degradation (PubMed:24449766). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1 (PubMed:15673284).
messages: Endoplasmic reticulum membrane
messages: Interacts with DIO2 (PubMed:19651899). Interacts with SQLE (PubMed:24449766).
messages: Present in brain (at protein level).
messages: The RING-CH-type zinc finger domain is required for E3 ligase activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:GIMAP4
gene id: 9606:GIMAP4
uniprot id: A0A090N7X0
uniprot id: Q9NUV9
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily.
messages: During thymocyte development, may play a role in the regulation of apoptosis (By similarity). GTPase which exhibits a higher affinity for GDP than for GTP.
messages: Highly expressed in spleen and peripheral blood leukocytes that contain mostly T- and B-lymphocytes. Expressed specifically in resting T- and B-lymphocytes and expression significantly decreases during B- or T-lymphocyte activation. Expressed at lower levels in thymus, ovary, colon and small intestine.
messages: May interact (via IQ domain) with calmodulin/CALM1 only in the absence of Ca(2+) (By similarity). Interacts with BAX, but not with other Bcl-2 family members (By similarity).
messages: Phosphorylated at very low levels in resting splenocytes. Rapidly and transiently phosphorylated in response to splenocyte activation.
messages: cytosol

9606:CTXN3
gene id: 9606:CTXN3
uniprot id: Q4LDR2
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the cortexin family.
messages: Membrane

9606:PI16
gene id: 9606:PI16
uniprot id: Q6UXB8
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CRISP family.
messages: Expressed in prostate, testis, ovary and intestine. Concentrates in prostate cancer patient's sera.
messages: Interacts with PSP94/MSMB.
messages: May inhibit cardiomyocyte growth.
messages: May serve as a marker following prostatectomy for prostate cancer.
messages: N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
messages: Secreted

9606:TNPO3
gene id: 9606:TNPO3
uniprot id: Q9Y5L0
names: Disease Annotation
names: Function
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with the HIV-1 pre-integration complex (PIC), which is composed of viral genome, matrix protein, Vpr and integrase (PubMed:18722123, PubMed:29329553). Interacts with HIV-1 integrase protein; the interaction is direct (PubMed:29329553).
messages: (Microbial infection) Involved in immunodeficiency virus (HIV-1) infection by importing the pre-integration complex (PIC) into the nucleus (PubMed:18722123, PubMed:21901095, PubMed:22398280, PubMed:29329553). Required for a nuclear maturation step of HIV-1 prior to integration (PubMed:21901095, PubMed:22398280).
messages: Cytoplasm
messages: Expressed in skeletal muscle.
messages: Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as RBM4, SFRS1 and SFRS2, by recognizing phosphorylated SR domains (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Also mediates the nuclear import of serine/arginine (SR) protein CPSF6, independently of CPSF6 phosphorylation (PubMed:30916345, PubMed:31465518). The nuclear import process is regulated by the small GTPase Ran that partitions between cytoplasm and nucleus in the predominantly GDP- and GTP-bound form, respectively (PubMed:23878195, PubMed:24449914). Importin associates with target cargo proteins in the cytoplasm, and the competitive binding of GTP-bound Ran induces the release of cargos in the nucleus (PubMed:23878195, PubMed:24449914).
messages: Interacts with (GTP-bound) Ran (PubMed:23878195, PubMed:24915079, PubMed:24449914). Interacts with (phosphorylated) SFRS1 and SFRS2; leading to their nuclear import (PubMed:10366588, PubMed:10713112, PubMed:11517331). Interacts with NUP62 (PubMed:11517331, PubMed:24449914). Interacts with RBM4 (PubMed:12628928). Interacts with CPSF6, promoting its nuclear import (PubMed:24449914).
messages: Nucleus envelope
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Variations in TNPO3 are associated with resistance or susceptibility to immunodeficiency virus type 1 (resistance or susceptibility to HIV-1) [MIM:609423] (PubMed:31465518). A variation that causes LGMDD2 muscular dystrophy induces protection against HIV-1 infection (PubMed:31465518).

9606:RDH13
gene id: 9606:RDH13
uniprot id: A0A024R4M8
uniprot id: B3KVA3
uniprot id: Q8NBN7
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
messages: Mitochondrion inner membrane
messages: Retinol dehydrogenase with a clear preference for NADP. Oxidizes all-trans-retinol, but seems to reduce all-trans-retinal with much higher efficiency (PubMed:18039331). Has no activity toward steroids (PubMed:18039331).
messages: Was originally thought to lack retinol dehydrogenase (RDH) activity. However, a more recent publication demonstrates a retinol dehydrogenase activity for RDH13.
messages: Widely expressed (PubMed:18039331). In the retina, detected in the inner segment of the photoreceptor cells. Weak signals are observed in a small population of inner nuclear neurons and the inner plexiform layer (PubMed:12226107).

9606:SLC45A4
gene id: 9606:SLC45A4
uniprot id: Q5BKX6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
messages: Membrane
messages: Proton-associated sucrose transporter. May be able to transport also glucose and fructose.

9606:TNP2
gene id: 9606:TNP2
uniprot id: Q05952
uniprot id: Q4VB56
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the nuclear transition protein 2 family.
messages: Chromosome
messages: Expressed by spermatids (at protein level).
messages: Nucleus
messages: Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction.
messages: nucleolus

9606:DGKE
gene id: 9606:DGKE
uniprot id: A1L4Q0
uniprot id: P52429
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the eukaryotic diacylglycerol kinase family.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Expressed predominantly in testis. Expressed in endothelium, platelets and podocytes (at protein level).
messages: Membrane
messages: Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed:19744926, PubMed:22108654, PubMed:21477596, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:8626589, PubMed:15544348). Also plays an important role in the biosynthesis of complex lipids (PubMed:8626589). Displays specificity for diacylglycerol substrates with an arachidonoyl acyl chain at the sn-2 position, with the highest activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol the main diacylglycerol intermediate within the phosphatidylinositol turnover cycle (PubMed:19744926, PubMed:22108654, PubMed:23274426). Can also phosphorylate diacylglycerol substrates with a linoleoyl acyl chain at the sn-2 position but much less efficiently (PubMed:22108654).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Undergoes competitive inhibition by its own product 1,2-diacyl-sn-glycero-3-phosphate/phosphatidic acid. The strongest inhibition being observed in vitro with 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate, a major intermediate in the phosphatidylinositol turnover cycle and more generally by diacylglycerols with an arachidonoyl acyl chain at the sn-2 position.

9606:DYNC1H1
gene id: 9606:DYNC1H1
uniprot id: Q14204
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the dynein heavy chain family.
messages: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074).
messages: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
messages: Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and dynein LCs assemble on the IC dimer. Interacts with DYNC1LI1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1LI2; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1I2 (By similarity). Interacts with BICD2 (PubMed:25512093). Interacts with isoform 2 of CRACR2A (PubMed:31092558). Interacts with DNALI1 (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton

9606:NLRP13
gene id: 9606:NLRP13
uniprot id: A0A0C4DGQ4
uniprot id: Q86W25
names: Function
names: Similarity
messages: Belongs to the NLRP family.
messages: Involved in inflammation.

9606:BLNK
gene id: 9606:BLNK
uniprot id: Q8WV28
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with PLCG1, VAV1 and NCK1 in a B-cell antigen receptor-dependent fashion. Interacts with VAV3, PLCG2 and GRB2. Interacts through its SH2 domain with CD79A. Interacts (via SH2 domain) with SYK; phosphorylated and activated by SYK. Interacts (via SH2 domain) with SCIMP; this interaction is dependent on phosphorylation of SCIMP 'Tyr-131' (PubMed:21930792).
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in B-cell lineage and fibroblast cell lines (at protein level). Highest levels of expression in the spleen, with lower levels in the liver, kidney, pancreas, small intestines and colon.
messages: Following BCR activation, phosphorylated on tyrosine residues by SYK and LYN. When phosphorylated, serves as a scaffold to assemble downstream targets of antigen activation, including PLCG1, VAV1, GRB2 and NCK1. Phosphorylation of Tyr-84, Tyr-178 and Tyr-189 facilitates PLCG1 binding. Phosphorylation of Tyr-96 facilitates BTK binding. Phosphorylation of Tyr-72 facilitates VAV1 and NCK1 binding. Phosphorylation is required for both Ca(2+) and MAPK signaling pathways.
messages: Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR-mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TSSK4
gene id: 9606:TSSK4
uniprot id: Q6SA08
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by autophosphorylation on Thr-197. ODF2 potentiates the autophosphorylation activity of TSSK4 at Thr-197.
messages: Activated by phosphorylation on Thr-197.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
messages: Expressed only in the testis.
messages: Homodimer (By similarity). Interacts with HSP90; this interaction stabilizes and activates TSSK4 (By similarity). Interacts with ODF2 (via C-terminus); this interaction promotes ODF2 phosphorylation on 'Ser-95' (By similarity). May interact with CREM (By similarity). Interacts with CREB1; this interaction facilitates phosphorylation on 'Ser-133' (PubMed:15964553). Interacts with QRICH2 (PubMed:30683861).
messages: Serine/threonine kinase which is involved in male germ cell development and in mature sperm function (By similarity). May be involved in the Cre/Creb signaling pathway (By similarity). Phosphorylates CREB1 on 'Ser-133' in vitro and can stimulate Cre/Creb pathway in cells (PubMed:15964553). Phosphorylates CREM on 'Ser-116' in vitro (By similarity). Phosphorylates ODF2 on 'Ser-95' (By similarity).
messages: Ubiquitinated; HSP90 activity negatively regulates ubiquitination and degradation.
messages: acrosome
messages: flagellum

9606:USP17L19
gene id: 9606:USP17L19
uniprot id: D6RCP7
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the peptidase C19 family. USP17 subfamily.
messages: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
messages: Endoplasmic reticulum
messages: Nucleus
messages: The RS447 megasatellite DNA is a highly polymorphic conserved tandem repetitive sequence which contains a copy of the USP17 gene. It is present with an interindividual variation in copy number, ranging from 20 to 103, and can be found in the genome on chromosome 4 and chromosome 8. The high similarity between the UPS17-like genes makes it impossible to specifically assign data to a particular gene of the family. Oligonucleotides designed in RNAi experiments are for instance not specific for a given UPS17-like gene.

9606:SLC4A1AP
gene id: 9606:SLC4A1AP
uniprot id: Q9BWU0
names: Caution
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: Nucleus
messages: PubMed:15764369 initially suggested a role in targeting SLC4A1 (kidney anion exchanger 1) to the plasma membrane; it does not seem to do so as it does not interact with SLC4A1 and has no effect on SLC4A1 trafficking.
messages: Ubiquitously expressed.

9606:TEX261
gene id: 9606:TEX261
uniprot id: Q6UWH6
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SVP26 family.
messages: Membrane

9606:OR8S1
gene id: 9606:OR8S1
uniprot id: Q8NH09
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:OR52E2
gene id: 9606:OR52E2
uniprot id: Q8NGJ4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:COX5A
gene id: 9606:COX5A
uniprot id: P20674
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cytochrome c oxidase subunit 5A family.
messages: Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695). Interacts with AFG1L (PubMed:26759378). Interacts with RAB5IF (PubMed:31536960).
messages: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
messages: Mitochondrion inner membrane
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:CD2BP2
gene id: 9606:CD2BP2
uniprot id: O95400
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of the U5 snRNP complex composed of the U5 snRNA and at least PRPF6, PRPF8, SNRNP200, EFTUD2, SNRNP40, DDX23, TXNL4A and CD2BP2. Interacts directly with TXNL4A and PRPF6. Interacts (via GYF domain) with CD2 (via Pro-rich sequence in the cytoplasmic domain). Interacts with PQBP1.
messages: Cytoplasm
messages: Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly.
messages: Nucleus

9606:PNPLA6
gene id: 9606:PNPLA6
uniprot id: A0A384DVU0
uniprot id: Q8IY17
names: Activity Regulation
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the NTE family.
messages: Endoplasmic reticulum membrane
messages: Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.
messages: Glycosylated.
messages: Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.
messages: Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.
messages: Membrane
messages: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes the hydrolysis of several naturally occurring membrane-associated lipids (PubMed:11927584). Hydrolyzes lysophospholipids and monoacylglycerols, preferring the 1-acyl to the 2-acyl isomer. Does not catalyze hydrolysis of di- or triacylglycerols or fatty acid amides (PubMed:11927584).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ADGRG5
gene id: 9606:ADGRG5
uniprot id: B4E148
uniprot id: Q8IZF4
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Adhesion G protein-coupled receptor (GPCR). Transduces intracellular signals through coupling to guanine nucleotide-binding protein G(s) subunit alpha and activation of adenylate cyclase pathway. Isoform 1, but not isoform 2, is constitutively active, as evidenced by elevated basal cAMP levels, and responds to mechanical activation (shaking).
messages: Autoproteolysis between residues Leu-226 and Thr-227 occurs in the lumen of the endoplasmic reticulum during receptor biosynthesis. The N-terminal fragment (NTF) subsequently reassociates with the C-terminal fragment (CTF) either in a homogeneric heterodimerization, or with another family member through heterogeneric heterodimerization. Autocatalytic cleavage is thought to be critical for the maturation, stability, trafficking, and function.
messages: Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
messages: Cell membrane
messages: Expressed in immune cells. Primarily found in granulocytes. Found in eosinophils.
messages: Membrane

9606:ZNF558
gene id: 9606:ZNF558
uniprot id: Q96NG5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:PIK3C3
gene id: 9606:PIK3C3
uniprot id: A8MYT4
uniprot id: B4DPV9
uniprot id: Q8NEB9
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Kinase activity is required for SARS coronavirus-2/SARS-CoV-2 replication.
messages: Belongs to the PI3/PI4-kinase family.
messages: Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.
messages: Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis (PubMed:14617358, PubMed:7628435, PubMed:33637724). As part of PI3KC3-C1, promotes endoplasmic reticulum membrane curvature formation prior to vesicle budding (PubMed:32690950). Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20208530, PubMed:20643123). Involved in the transport of lysosomal enzyme precursors to lysosomes (By similarity). Required for transport from early to late endosomes (By similarity).
messages: Component of the PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex the core of which is composed of the catalytic subunit PIK3C3, the regulatory subunit PIK3R4 and BECN1 associating with additional regulatory/auxilliary subunits to form alternative complex forms. Alternative complex forms containing a forth regulatory subunit in a mutually exclusive manner are: the PI3K complex I (PI3KC3-C1) containing ATG14, and the PI3K complex II (PI3KC3-C2) containing UVRAG. PI3KC3-C1 displays a V-shaped architecture with PIK3R4 serving as a bridge between PIK3C3 and the ATG14:BECN1 subcomplex. Both, PI3KC3-C1 and PI3KC3-C2, can associate with further regulatory subunits such as RUBCN, SH3GLB1/Bif-1 and AMBRA1 (PubMed:7628435, PubMed:19050071, PubMed:20643123, PubMed:19270696, PubMed:23878393, PubMed:25490155). PI3KC3-C1 probably associates with PIK3CB (By similarity). Interacts with RAB7A in the presence of PIK3R4 (PubMed:14617358). Interacts with AMBRA1 (By similarity). Interacts with BECN1P1/BECN2 (PubMed:23954414). Interacts with SLAMF1(PubMed:22493499). May be a component of a complex composed of RAB5A (in GDP-bound form), DYN2 and PIK3C3 (By similarity). Interacts with NCKAP1L (PubMed:16417406). Interacts with ATG14; this interaction is increased in the absence of TMEM39A (PubMed:31806350). Interacts with STEEP1; the interaction is STING1-dependent and required for trafficking of STING1 from the endoplasmic reticulum (PubMed:32690950). Interacts with YWHAG (PubMed:33473107).
messages: Late endosome
messages: Midbody
messages: Ubiquitinated via 'Lys-29'- and 'Lys-48'-linked ubiquitination by UBE3C, promoting its degradation (PubMed:33637724). Deubiquitination by ZRANB1/TRABID promotes its stabilization, leading to autophagosome maturation (PubMed:33637724).
messages: Ubiquitously expressed, with a highest expression in skeletal muscle.
messages: autophagosome

9606:BRCA2
gene id: 9606:BRCA2
uniprot id: P51587
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.
messages: Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180).
messages: Monomer and dimer (PubMed:20729858). Interacts with RAD51; regulates RAD51 recruitment and function at sites of DNA repair (PubMed:12442171, PubMed:15800615, PubMed:18317453, PubMed:20729832, PubMed:20729859). Interacts with WDR16, USP11, DMC1, ROCK2 and NPM1 (PubMed:15314155, PubMed:15967112, PubMed:20729832, PubMed:21084279). Interacts with SEM1; the interaction masks a nuclear export signal in BRCA2 (PubMed:10373512, PubMed:16205630, PubMed:21719596, PubMed:24013206). Interacts with both nonubiquitinated and monoubiquitinated FANCD2; this complex also includes XRCC3 and phosphorylated FANCG (PubMed:15115758, PubMed:15199141, PubMed:18212739). Part of a BRCA complex containing BRCA1, BRCA2 and PALB2 (PubMed:19369211). Component of the homologous recombination repair (HR) complex composed of ERCC5/XPG, BRCA2, PALB2, DSS1 and RAD51 (PubMed:26833090). Within the complex, interacts with ERCC5/XPG and PALB2 (PubMed:26833090). Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3 (PubMed:26833090, PubMed:19369211, PubMed:24141787, PubMed:28319063, PubMed:16793542, PubMed:19609323). Interacts with BRCA1 only in the presence of PALB2 which serves as the bridging protein (PubMed:19369211). Interacts with POLH; the interaction is direct (PubMed:24485656). Interacts with the TREX-2 complex subunits PCID2 and SEM1 (PubMed:24896180, PubMed:21719596). Interacts with HSF2BP and BRME1; the interaction with HSF2BP is direct and allows the formation of a ternary complex (PubMed:31242413). The complex BRME1:HSF2BP:BRCA2 interacts with SPATA22, MEIOB and RAD51 (By similarity).
messages: Nucleus
messages: Phosphorylated by ATM upon irradiation-induced DNA damage. Phosphorylation by CHEK1 and CHEK2 regulates interaction with RAD51. Phosphorylation at Ser-3291 by CDK1 and CDK2 is low in S phase when recombination is active, but increases as cells progress towards mitosis; this phosphorylation prevents homologous recombination-dependent repair during S phase and G2 by inhibiting RAD51 binding.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated in the absence of DNA damage; this does not lead to proteasomal degradation. In contrast, ubiquitination in response to DNA damage leads to proteasomal degradation.
messages: centrosome

9606:SLC17A6
gene id: 9606:SLC17A6
uniprot id: Q9P2U8
names: Activity Regulation
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily.
messages: Cell membrane
messages: Chloride channel activity is allosterically activated by lumenal H(+) and Cl(-) leading to synaptic vesicles acidification. The L-glutamate transport activity is allosterically activated by lumenal H(+) and Cl(-). The allosteric requirement for H(+) efficiently prevents non-vesicular efflux across the plasma membrane. The L-glutamate uniporter activity exhibits a biphasic dependence on chloride concentration.
messages: Expressed in fetal brain.
messages: Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, proton, potassium, sodium and phosphate (PubMed:33440152, PubMed:11698620). At the synaptic vesicle membrane, mainly functions as a uniporter which transports preferentially L-glutamate but also, phosphate from the cytoplasm into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (PubMed:11698620). The L-glutamate or phosphate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane (PubMed:11698620). In addition, functions as a chloride channel that allows the chloride permeation through the synaptic vesicle membrane therefore affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity). Moreover, functions as a vesicular K(+)/H(+) antiport allowing to maintain the electrical gradient and to decrease chemical gradient and therefore sustain vesicular glutamate uptake (By similarity). The vesicular H(+)/H(+) antiport activity is electroneutral (By similarity). At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (Probable) (PubMed:10820226). The symporter activity is driven by an inside negative membrane potential and is electrogenic (Probable). Also involved in the regulation of retinal hyaloid vessel regression during postnatal development (By similarity). May also play a role in the endocrine glutamatergic system of other tissues such as pineal gland and pancreas (By similarity).
messages: Predominantly expressed in adult brain (PubMed:10820226). Expressed in amygdala, caudate nucleus, cerebral cortex, frontal lobe, hippocampus, medulla, occipital lobe, putamen, spinal cord, substantia nigra, subthalamic nucleus, temporal lobe and thalamus (PubMed:10820226).
messages: synaptic vesicle membrane
messages: synaptosome

9606:SOST
gene id: 9606:SOST
uniprot id: Q9BQB4
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the sclerostin family.
messages: Interacts with LRP4 (via the extracellular domain); the interaction facilitates the inhibition of Wnt signaling. Interacts with LRP5 (via the first two YWTD-EGF repeat domains); the interaction inhibits Wnt-mediated signaling. Interacts with LRP6.
messages: Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. A 52 kb deletion downstream of SOST results in SOST transcription suppression causing van Buchem disease.
messages: The disease is caused by variants affecting the gene represented in this entry. Heterozygous mutations located in the secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia.
messages: Widely expressed at low levels with highest levels in bone, cartilage, kidney, liver, bone marrow and primary osteoblasts differentiated for 21 days. Detected in the subendothelial layer of the aortic intima (at protein level).
messages: extracellular matrix

9606:KATNIP
gene id: 9606:KATNIP
uniprot id: O60303
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with microtubules. Interacts with 4 subunits of the katanin complex: KATNA1, KATNAL1, KATNB1 and KATNBL1.
messages: May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium axoneme
messages: cilium basal body
messages: cytoskeleton

9606:STARD6
gene id: 9606:STARD6
uniprot id: P59095
names: Function
messages: May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity).

9606:ROPN1B
gene id: 9606:ROPN1B
uniprot id: Q9BZX4
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: 'Ropporin' comes from the Japanese word 'oppo' which means 'tail'.
messages: Belongs to the ropporin family.
messages: Homodimer. Interacts with RHPN1 (By similarity). May interact with SPA17 (By similarity). Interacts with AKAP3 (PubMed:11278869). Interacts with FSCB; the interaction increases upon spermatozoa capacitation conditions (By similarity).
messages: Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation.
messages: Sumoylated, sumoylation decreases upon spermatozoa capacitation conditions.
messages: The RIIa domain mediates interaction with AKAP3.
messages: flagellum

9606:SIM2
gene id: 9606:SIM2
uniprot id: Q14190
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM2 and ARNT.
messages: Nucleus
messages: Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.

9606:METTL25B
gene id: 9606:METTL25B
uniprot id: Q96FB5
names: Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the METTL25 family.
messages: Membrane
messages: Was named RRNAD1 by HGNC because a ribosomal RNA adenine dimethylase signature is detected by PROSITE. However, it probably constitutes a false positive and the ribosomal RNA adenine dimethylase signature is not conserved in orthologs.

9606:ATP6V1B1
gene id: 9606:ATP6V1B1
uniprot id: P15313
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Basolateral cell membrane
messages: Belongs to the ATPase alpha/beta chains family.
messages: Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:29993276, PubMed:16769747). Expressed in the cochlea and endolymphatic sac (PubMed:9916796).
messages: Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:16769747). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). Essential for the proper assembly and activity of V-ATPase (PubMed:16769747). In renal intercalated cells, mediates secretion of protons (H+) into the urine thereby ensuring correct urinary acidification (PubMed:16769747). Required for optimal olfactory function by mediating the acidification of the nasal olfactory epithelium (By similarity).
messages: The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity). Forms a complex with SLC9A3R1 and SCL4A7 (PubMed:12444018).

9606:VTN
gene id: 9606:VTN
uniprot id: P04004
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts (via hemopexin repeat 2) with P.falciparum (isolate CDC / Honduras) SERA5 P47 (via C-terminus); may form heterotetramers of two VTN and SERA5 P47 heterodimers; the interaction may protect merozoites from phagocytosis by host monocytes; VTN glycosylation appears to be dispensable for the interaction.
messages: Exists in two forms: a single chain 75 kDa form (V75) and a clipped form composed of two chains (65 kDa and 10 kDa) (V65+V10) which are held together by a disulfide bond. Interacts with SERPINE1/PAI1, insulin and C1QBP.
messages: Expressed in the retina pigment epithelium (at protein level) (PubMed:25136834). Expressed in plasma (at protein level) (PubMed:2448300). Expressed in serum (at protein level) (PubMed:29567995).
messages: It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both.
messages: N- and O-glycosylated.
messages: Parasitophorous vacuole
messages: Phosphorylation on Thr-69 and Thr-76 favors cell adhesion and spreading.
messages: Phosphorylation sites are present in the extracellular medium.
messages: Somatomedin-B is a growth hormone-dependent serum factor with protease-inhibiting activity.
messages: Sulfated on tyrosine residues.
messages: The SMB domain mediates interaction with SERPINE1/PAI1. The heparin-binding domain mediates interaction with insulin.
messages: Vitronectin is a cell adhesion and spreading factor found in serum and tissues. Vitronectin interact with glycosaminoglycans and proteoglycans. Is recognized by certain members of the integrin family and serves as a cell-to-substrate adhesion molecule. Inhibitor of the membrane-damaging effect of the terminal cytolytic complement pathway.
messages: extracellular space

9606:DMAC2
gene id: 9606:DMAC2
uniprot id: Q9NW81
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ATP synthase subunit s family.
messages: Interacts with incompletely assembled mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).
messages: Mitochondrion
messages: Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.

9606:TRIM64
gene id: 9606:TRIM64
uniprot id: A6NGJ6
names: Similarity
messages: Belongs to the TRIM/RBCC family.

9606:ELK3
gene id: 9606:ELK3
uniprot id: A0A024RBE2
uniprot id: P41970
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ETS family.
messages: Interacts with CTBP1.
messages: May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element.
messages: Nucleus

9606:OR10A5
gene id: 9606:OR10A5
uniprot id: A0A126GWR0
uniprot id: Q9H207
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in the tongue.
messages: Membrane
messages: Odorant receptor (Potential). May be involved in taste perception.

9606:NSDHL
gene id: 9606:NSDHL
uniprot id: A0A384NPZ7
uniprot id: Q15738
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the 3-beta-HSD family.
messages: Brain, heart, liver, lung, kidney, skin and placenta.
messages: Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity).
messages: Endoplasmic reticulum membrane
messages: Homodimer.
messages: Lipid droplet
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CEBPZ
gene id: 9606:CEBPZ
uniprot id: Q03701
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CBF/MAK21 family.
messages: Nucleus
messages: Stimulates transcription from the HSP70 promoter.

9606:CCDC61
gene id: 9606:CCDC61
uniprot id: Q9Y6R9
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CCDC61 family.
messages: Forms homodimers (via head domain) (PubMed:32375023). Interacts with CEP170 (PubMed:30354798, PubMed:31789463). Interacts with PCM1 and CEP131 (PubMed:31789463). Binds tubulin (PubMed:31789463).
messages: Microtubule-binding centrosomal protein required for centriole cohesion, independently of the centrosome-associated protein/CEP250 and rootletin/CROCC linker (PubMed:31789463). In interphase, required for anchoring microtubule at the mother centriole subdistal appendages and for centrosome positioning (PubMed:31789463). During mitosis, may be involved in spindle assembly and chromatin alignment by regulating the organization of spindle microtubules into a symmetrical structure (PubMed:30354798). Has been proposed to play a role in CEP170 recruitment to centrosomes (PubMed:30354798). However, this function could not be confirmed (PubMed:31789463). Plays a non-essential role in ciliogenesis (PubMed:31789463, PubMed:32375023).
messages: The N-terminal 3D structure (head domain) resembles that of NHEJ1/XLF, PAXX, SASS6 and XRCC4.
messages: The coiled-coil domains are involved in microtubule-binding.
messages: centriolar satellite
messages: centrosome
messages: cilium basal body

9606:SLC17A1
gene id: 9606:SLC17A1
uniprot id: Q14916
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
messages: Expressed in kidney cortex, liver and brain but not in other tissues.
messages: Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney (PubMed:27906618).
messages: Interacts with PDZK1.
messages: It is uncertain whether Met-1 or Met-3 is the initiator.

9606:TPD52L3
gene id: 9606:TPD52L3
uniprot id: A0A140VKH0
uniprot id: Q96J77
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the TPD52 family.
messages: Interacts with TPD52L2.
messages: Specifically expressed in testis. Expressed at 5.6-fold higher levels in adult testis than in fetal testis.

9606:ETS1
gene id: 9606:ETS1
uniprot id: A8K725
uniprot id: P14921
names: Activity Regulation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a dominant-negative for isoform c-ETS-1A.
messages: Autoinhibited by a module composed of four alpha helices (HI-1, HI-2, H4, and H5) that flank the DNA-binding ETS domain, reducing the affinity for DNA. Phosphorylation by CaMK2/CaMKII in response to calcium signaling decreases affinity for DNA.
messages: Belongs to the ETS family.
messages: Binds DNA as a homodimer; homodimerization is required for transcription activation (PubMed:18566588). Interacts with MAF and MAFB (By similarity). Interacts with PAX5; the interaction alters DNA-binding properties (By similarity). Interacts with DAXX (PubMed:10698492). Interacts with UBE2I (PubMed:9333025). Interacts with SP100; the interaction is direct and modulates ETS1 transcriptional activity (PubMed:11909962, PubMed:15247905).
messages: Cytoplasm
messages: Highly expressed within lymphoid cells. Isoforms c-ETS-1A and Ets-1 p27 are both detected in all fetal tissues tested, but vary with tissue type in adult tissues. None is detected in brain or kidney.
messages: Nucleus
messages: Phosphorylation at Ser-251, Ser-282 and Ser-285 by CaMK2/CaMKII in response to calcium signaling decreases affinity for DNA: an increasing number of phosphoserines causes DNA-binding to become progressively weaker.
messages: Sumoylated on Lys-15 and Lys-227, preferentially with SUMO2; which inhibits transcriptional activity.
messages: Transcription factor (PubMed:10698492, PubMed:11909962). Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts (PubMed:20378371). May control the differentiation, survival and proliferation of lymphoid cells (PubMed:20378371). May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion (PubMed:15247905, PubMed:15592518).
messages: Ubiquitinated; which induces proteasomal degradation.
messages: Up-regulated by retinoic acid, VEGF, TNF-alpha/TNFA, lipopolysaccharide and in response to hypoxia (at protein level).

9606:OR6V1
gene id: 9606:OR6V1
uniprot id: A0A126GWQ4
uniprot id: Q8N148
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:ENPP1
gene id: 9606:ENPP1
uniprot id: P22413
names: Activity Regulation
names: Caution
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: At low concentrations of ATP, a phosphorylated intermediate is formed which inhibits further hydrolysis.
messages: Autophosphorylated as part of the catalytic cycle of phosphodiesterase/pyrophosphatase activity.
messages: Basolateral cell membrane
messages: Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Cell membrane
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis (PubMed:9344668). Expressed in melanocytes but not in keratinocytes (PubMed:28964717).
messages: Homodimer (PubMed:28964717). Interacts with INSR; leading to inhibit INSR autophosphorylation and subsequent activation of INSR kinase activity (PubMed:10615944).
messages: It is uncertain whether Met-1 or Met-53 is the initiator.
messages: Monomeric (By similarity).
messages: N-glycosylated.
messages: Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by binding to nascent hydroxyapatite crystals, thereby preventing further growth of these crystals (PubMed:11004006). Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP and UTP to their corresponding monophosphates with release of pyrophosphate, as well as diadenosine polyphosphates, and also 3',5'-cAMP to AMP (PubMed:27467858, PubMed:8001561, PubMed:25344812, PubMed:28011303). May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling (PubMed:27467858, PubMed:8001561). Inhibits ectopic joint calcification and maintains articular chondrocytes by repressing hedgehog signaling; it is however unclear whether hedgehog inhibition is direct or indirect (By similarity). Appears to modulate insulin sensitivity and function (PubMed:10615944). Also involved in melanogenesis (PubMed:28964717). Also able to hydrolyze 2',3'-cGAMP (cyclic GMP-AMP), a second messenger that activates TMEM173/STING and triggers type-I interferon production (PubMed:25344812). 2',3'-cGAMP degradation takes place in the lumen or extracellular space, and not in the cytosol where it is produced; the role of 2',3'-cGAMP hydrolysis is therefore unclear (PubMed:25344812). Not able to hydrolyze the 2',3'-cGAMP linkage isomer 3'-3'-cGAMP (PubMed:25344812).
messages: Secreted
messages: The di-leucine motif is required for basolateral targeting in epithelial cells, and for targeting to matrix vesicles derived from mineralizing cells.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The secreted form is produced through cleavage at Lys-103 by intracellular processing.

9606:ORMDL2
gene id: 9606:ORMDL2
uniprot id: Q53FV1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ORM family.
messages: Endoplasmic reticulum membrane
messages: Negative regulator of sphingolipid synthesis.
messages: Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and kidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus.

9606:GRM2
gene id: 9606:GRM2
uniprot id: Q14416
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 3 family.
messages: Cell membrane
messages: Detected in brain cortex (at protein level). Widely expressed in different regions of the adult brain as well as in fetal brain.
messages: G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. May mediate suppression of neurotransmission or may be involved in synaptogenesis or synaptic stabilization.
messages: Interacts with TAMALIN (By similarity). Interacts with HTR2A.
messages: Synapse
messages: dendrite

9606:CCL16
gene id: 9606:CCL16
uniprot id: O15467
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the intercrine beta (chemokine CC) family.
messages: By IL10/interleukin-10.
messages: Mainly expressed in liver, also found in spleen and thymus. Highly expressed in LPS- and IFN-gamma-activated monocytes, weakly in some lymphocytes, including natural killer cells, gamma-delta T-cells, and some T-cell clones.
messages: Secreted
messages: Shows chemotactic activity for lymphocytes and monocytes but not neutrophils. Also shows potent myelosuppressive activity, suppresses proliferation of myeloid progenitor cells. Recombinant SCYA16 shows chemotactic activity for monocytes and THP-1 monocytes, but not for resting lymphocytes and neutrophils. Induces a calcium flux in THP-1 cells that were desensitized by prior expression to RANTES.

9606:CD300LG
gene id: 9606:CD300LG
uniprot id: Q6UXG3
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Apical cell membrane
messages: Basolateral cell membrane
messages: Belongs to the CD300 family.
messages: Highly expressed in heart, skeletal muscle and placenta.
messages: Ig-like V-type domain mediates binding to lymphocyte.
messages: O-glycosylated with sialylated oligosaccharides.
messages: Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte (By similarity).
messages: multivesicular body membrane

9606:MRPL57
gene id: 9606:MRPL57
uniprot id: Q9BQC6
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the mitochondrion-specific ribosomal protein mL63 family.
messages: Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:25278503, PubMed:25838379, PubMed:28892042). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
messages: Mitochondrion

9606:NUP35
gene id: 9606:NUP35
uniprot id: Q8NFH5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Nup35 family.
messages: Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs), can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC.
messages: Interacts with TMEM48/NDC1. Forms a complex with NUP93, NUP155, NUP205 and lamin B; the interaction with NUP93 is direct.
messages: Nucleus membrane
messages: nuclear pore complex

9606:KRT23
gene id: 9606:KRT23
uniprot id: A0A024R1X9
uniprot id: Q8TC04
uniprot id: Q9C075
names: Miscellaneous
names: Similarity
names: Subunit
messages: Belongs to the intermediate filament family.
messages: Heterotetramer of two type I and two type II keratins.
messages: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

9606:PRKCA
gene id: 9606:PRKCA
uniprot id: L7RSM7
uniprot id: P17252
uniprot id: Q7Z727
names: Activity Regulation
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.
messages: Binds 3 Ca(2+) ions per subunit. The ions are bound to the C2 domain.
messages: Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion, tumorigenesis, cardiac hypertrophy, angiogenesis, platelet function and inflammation, by directly phosphorylating targets such as RAF1, BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involving MAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation and cell growth arrest by positive and negative regulation of the cell cycle. Can promote cell growth by phosphorylating and activating RAF1, which mediates the activation of the MAPK/ERK signaling cascade, and/or by up-regulating CDKN1A, which facilitates active cyclin-dependent kinase (CDK) complex formation in glioma cells. In intestinal cells stimulated by the phorbol ester PMA, can trigger a cell cycle arrest program which is associated with the accumulation of the hyper-phosphorylated growth-suppressive form of RB1 and induction of the CDK inhibitors CDKN1A and CDKN1B. Exhibits anti-apoptotic function in glioma cells and protects them from apoptosis by suppressing the p53/TP53-mediated activation of IGFBP3, and in leukemia cells mediates anti-apoptotic action by phosphorylating BCL2. During macrophage differentiation induced by macrophage colony-stimulating factor (CSF1), is translocated to the nucleus and is associated with macrophage development. After wounding, translocates from focal contacts to lamellipodia and participates in the modulation of desmosomal adhesion. Plays a role in cell motility by phosphorylating CSPG4, which induces association of CSPG4 with extensive lamellipodia at the cell periphery and polarization of the cell accompanied by increases in cell motility. During chemokine-induced CD4(+) T cell migration, phosphorylates CDC42-guanine exchange factor DOCK8 resulting in its dissociation from LRCH1 and the activation of GTPase CDC42 (PubMed:28028151). Is hig…
messages: Cell membrane
messages: Classical (or conventional) PKCs (PRKCA, PRKCB and PRKCG) are activated by calcium and diacylglycerol (DAG) in the presence of phosphatidylserine. Three specific sites; Thr-497 (activation loop of the kinase domain), Thr-638 (turn motif) and Ser-657 (hydrophobic region), need to be phosphorylated for its full activation.
messages: Cytoplasm
messages: Membrane
messages: Mitochondrion membrane
messages: Nucleus
messages: Recruited in a circadian manner into a nuclear complex which also includes BMAL1 and RACK1 (By similarity). Interacts with ADAP1/CENTA1 (PubMed:12893243). Interacts with CSPG4 (PubMed:15504744). Binds to CAVIN2 in the presence of phosphatidylserine (By similarity). Interacts with PRKCABP/PICK1 (via PDZ domain) (PubMed:15247289). Interacts with TRIM41 (PubMed:17893151). Interacts with PARD3 (PubMed:27925688). Interacts with SOCS2 (By similarity).

9606:LCORL
gene id: 9606:LCORL
uniprot id: Q8N3X6
names: Caution
names: Function
names: Subcellular Location Annotation
messages: A report observed N-glycosylation at Asn-493 (PubMed:19139490). However, as the protein is predicted to act as a DNA-binding transcription activator, additional evidence is required to confirm this result.
messages: May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3'. May play a role in spermatogenesis (By similarity).
messages: Nucleus

9606:CATSPERB
gene id: 9606:CATSPERB
uniprot id: Q9H7T0
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization.
messages: Component of the CatSper complex or CatSpermasome composed of the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE, CATSPERZ, C2CD6/CATSPERT, TMEM249, TMEM262 and EFCAB9. HSPA1 may be an additional auxiliary complex member. The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel. The auxiliary CATSPERB, CATSPERG, CATSPERD and CATSPERE subunits form a pavilion-like structure over the pore which stabilizes the complex through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively. TMEM262/CATSPERH interacts with CATSPERB, further stabilizing the complex. C2CD6/CATSPERT interacts at least with CATSPERD and is required for targeting the CatSper complex in the flagellar membrane.
messages: In mouse, Slco6c1 is an additional auxiliary subunit of the CatSper complex. It is unclear if the related SLCO6A1 protein performs the same role in non-rodent species.
messages: flagellum membrane

9606:ACY1
gene id: 9606:ACY1
uniprot id: Q03154
uniprot id: V9HWA0
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase M20A family.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Catalyzes the hydrolysis of N-acetylated amino acids to acetate and free amino acids.
messages: Cytoplasm
messages: Expression is highest in kidney, strong in brain and weaker in placenta and spleen.
messages: Homodimer. Interacts with SPHK1 (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:HSD17B13
gene id: 9606:HSD17B13
uniprot id: Q7Z5P4
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
messages: Endoplasmic reticulum
messages: Highly expressed in the liver. Also detected in ovary, bone marrow, kidney, brain, lung, skeletal muscle, bladder and testis.
messages: Lipid droplet

9606:DECR2
gene id: 9606:DECR2
uniprot id: Q9NUI1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19-docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid.
messages: Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily.
messages: Monomer, dimer and oligomer.
messages: Peroxisome

9606:OR52N5
gene id: 9606:OR52N5
uniprot id: A0A126GVK9
uniprot id: Q8NH56
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:SNAPC5
gene id: 9606:SNAPC5
uniprot id: O75971
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Nucleus
messages: Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC5 interacts with SNAPC4.
messages: Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.

9606:SLC15A4
gene id: 9606:SLC15A4
uniprot id: Q8N697
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Proton-dependent oligopeptide transporter (POT/PTR) (TC 2.A.17) family.
messages: Early endosome membrane
messages: Endosome membrane
messages: Highly expressed in skeletal muscle. Moderately expressed in kidney, liver, and heart. Weakly expressed in colon and brain. Expressed in low levels throughout the gastrointestinal tract and in Caco-2 cells. Expressed in retinal fragment epithelium (RPE) and neural retina. Expressed in small intestine, stomach, duodenum, jejunum, ileum and colon.
messages: Interacts with TASL; leading to TASL recruitment to endolysosome.
messages: Lysosome membrane
messages: Proton-coupled amino-acid transporter that mediates the transmembrane transport of L-histidine and some di- and tripeptides from inside the lysosome to the cytosol, and plays a key role in innate immune response (PubMed:16289537, PubMed:25238095, PubMed:29224352). Able to transport a variety of di- and tripeptides, including carnosine and some peptidoglycans (PubMed:29224352, PubMed:31073693). Transporter activity is pH-dependent and maximized in the acidic lysosomal environment (By similarity). Involved in the detection of microbial pathogens by toll-like receptors (TLRs) and NOD-like receptors (NLRs), probably by mediating transport of bacterial peptidoglycans across the endolysosomal membrane: catalyzes the transport of certain bacterial peptidoglycans, such as muramyl dipeptide (MDP), the NOD2 ligand, and L-alanyl-gamma-D-glutamyl-meso-2,6-diaminoheptanedioate (tri-DAP), the NOD1 ligand (PubMed:25238095, PubMed:29224352). Required for TLR7, TLR8 and TLR9-mediated type I interferon (IFN-I) productions in plasmacytoid dendritic cells (pDCs) (PubMed:25238095). Independently of its transporter activity, also promotes the recruitment of innate immune adapter TASL to endolysosome downstream of TLR7, TLR8 and TLR9: TASL recruitment leads to the specific recruitment and activation of IRF5 (PubMed:32433612). Required for isotype class switch recombination to IgG2c isotype in response to TLR9 stimulation (By similarity). Required for mast cell secretory-granule homeostasis by limiting mast cell functions and inflammatory responses (By similarity).

9606:FRG2C
gene id: 9606:FRG2C
uniprot id: A6NGY1
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the FRG2 family.
messages: Nucleus

9606:LY96
gene id: 9606:LY96
uniprot id: Q9Y6Y9
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Binds bacterial lipopolysaccharide (LPS) (PubMed:17803912, PubMed:17569869). Cooperates with TLR4 in the innate immune response to bacterial lipopolysaccharide (LPS), and with TLR2 in the response to cell wall components from Gram-positive and Gram-negative bacteria (PubMed:11160242, PubMed:11593030). Enhances TLR4-dependent activation of NF-kappa-B (PubMed:10359581). Cells expressing both LY96 and TLR4, but not TLR4 alone, respond to LPS (PubMed:10359581).
messages: Heterogeneous homomer formed from homodimers; disulfide-linked (PubMed:11593030, PubMed:12642668). Belongs to the lipopolysaccharide (LPS) receptor, a multi-protein complex containing at least CD14, LY96 and TLR4 (PubMed:11274165). Binds to the extracellular domains of TLR2 and TLR4 (PubMed:10359581, PubMed:11593030, PubMed:17803912). Ligand binding induces interaction with TLR4 and oligomerization of the complex.
messages: N-glycosylated; high-mannose.
messages: Secreted
messages: extracellular space

9606:ATAD3C
gene id: 9606:ATAD3C
uniprot id: Q5T2N8
names: Similarity
messages: Belongs to the AAA ATPase family.

9606:IL2RG
gene id: 9606:IL2RG
uniprot id: P31785
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HTLV-1 accessory protein p12I.
messages: Belongs to the type I cytokine receptor family. Type 5 subfamily.
messages: Cell membrane
messages: Cell surface
messages: Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).
messages: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
messages: The box 1 motif is required for JAK interaction and/or activation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gamma subunit is common to the IL2, IL4, IL7, IL15, IL21 and probably also the IL13 receptors. Interacts with SHB upon interleukin stimulation. Interacts with IL9 (By similarity).

9606:XRCC6
gene id: 9606:XRCC6
uniprot id: A0A024R1N4
uniprot id: B1AHC9
uniprot id: B4DE32
uniprot id: B4E356
uniprot id: P12956
names: Developmental Stage
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein HBZ.
messages: ADP-ribosylated by PARP3.
messages: Belongs to the ku70 family.
messages: Chromosome
messages: Expression does not increase during promyelocyte differentiation.
messages: Heterodimer composed of XRCC5/Ku80 and XRCC6/Ku70 (PubMed:11493912). Component of the core long-range non-homologous end joining (NHEJ) complex (also named DNA-PK complex) composed of PRKDC, LIG4, XRCC4, XRCC6/Ku70, XRCC5/Ku86 and NHEJ1/XLF (PubMed:12509254, PubMed:9742108, PubMed:12547193, PubMed:25941166, PubMed:25670504, PubMed:33854234). Additional component of the NHEJ complex includes PAXX (PubMed:25574025, PubMed:27601299, PubMed:27705800). Following autophosphorylation, PRKDC dissociates from DNA, leading to formation of the short-range NHEJ complex, composed of LIG4, XRCC4, XRCC6/Ku70, XRCC5/Ku86 and NHEJ1/XLF (PubMed:33854234). The XRCC5-XRCC6 dimer also associates with NAA15, and this complex binds to the osteocalcin promoter and activates osteocalcin expression (PubMed:12145306). In addition, XRCC6 interacts with the osteoblast-specific transcription factors MSX2, RUNX2 and DLX5 (PubMed:12145306). Interacts with ELF3 (PubMed:15075319). Interacts with ATP23 (PubMed:10219089). The XRCC5-XRRC6 dimer associates in a DNA-dependent manner with APEX1 (PubMed:8621488). Binds to CDK9 isoform 2 (PubMed:20493174). Identified in a complex with DEAF1 and XRCC5 (PubMed:22442688). Interacts with DEAF1 (via the SAND domain); the interaction is direct and may be inhibited by DNA-binding (PubMed:22442688). Interacts with CLU (By similarity). Interacts with NR4A3; the DNA-dependent protein kinase complex DNA-PK phosphorylates and activates NR4A3 and prevents NR4A3 ubiquitinylation and degradation (PubMed:25852083). Interacts with CYREN isoform 1 (CYREN-1) and isoform 4 (CYREN-2) (via KBM motif) (PubMed:27063109, PubMed:24610814, PubMed:28959974). Interacts (via N-terminus) with HSF1 (via N-terminus); this interaction is direct and prevents XRCC5/XRCC6 heterodimeric binding and non-homologous end joining (NHEJ) repair activities induced by ionizing radiation (IR) (PubMed:26359349). Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle pro…
messages: In osteoblasts, by FGF2.
messages: Individuals with systemic lupus erythematosus (SLE) and related disorders produce extremely large amounts of autoantibodies to XRCC5 and XRCC6. Existence of a major autoantigenic epitope or epitopes on the C-terminal 190 amino acids of XRCC6 containing the leucine repeat. The majority of autoantibodies to XRCC6 in most sera from patients with SLE seem to be reactive with this region.
messages: Nucleus
messages: Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect DNA repair.
messages: Single-stranded DNA-dependent ATP-dependent helicase that plays a key role in DNA non-homologous end joining (NHEJ) by recruiting DNA-PK to DNA (PubMed:7957065, PubMed:8621488, PubMed:12145306, PubMed:11493912, PubMed:20493174, PubMed:2466842, PubMed:9742108). Required for double-strand break repair and V(D)J recombination (PubMed:7957065, PubMed:8621488, PubMed:12145306, PubMed:11493912, PubMed:20493174, PubMed:2466842, PubMed:9742108). Also has a role in chromosome translocation (PubMed:7957065, PubMed:8621488, PubMed:12145306, PubMed:11493912, PubMed:20493174, PubMed:2466842, PubMed:9742108). Has a role in chromosome translocation (PubMed:7957065, PubMed:20493174, PubMed:2466842, PubMed:9742108, PubMed:8621488, PubMed:12145306, PubMed:11493912). The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner (PubMed:7957065, PubMed:8621488, PubMed:20493174, PubMed:2466842, PubMed:9742108, PubMed:12145306, PubMed:11493912). It works in the 3'-5' direction (PubMed:20493174, PubMed:2466842, PubMed:9742108, PubMed:7957065, PubMed:8621488, PubMed:12145306, PubMed:11493912). During NHEJ, the XRCC5-XRRC6 dimer performs the recognition step: it recognizes and binds to the broken ends of the DNA and protects them from further resection (PubMed:7957065, PubMed:8621488, PubMed:20493174, PubMed:2466842, PubMed:9742108, PubMed:12145306, PubMed:11493912). Binding to DNA may be mediated by XRCC6 (PubMed:20493174, PubMed:2466842, PubMed:9742108, PubMed:7957065, PubMed:8621488, PubMed:12145306, PubMed:11493912). The XRCC5-XRRC6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold (PubMed:7957065, PubMed:8621488, PubMed:12145306, PubMed:11493912, PubMed:20493174, PubMed:2466842, PubMed:9742108). The XRCC5-XRRC6 dimer is probably involved in stabilizing broken DNA ends and bringing them together (PubMed:7957065, PubMe…

9606:SF3B1
gene id: 9606:SF3B1
uniprot id: O75533
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SF3B1 family.
messages: Citrullinated by PADI4.
messages: Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21 (PubMed:16603771). Identified in the spliceosome C complex (PubMed:11991638). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077). Component of splicing factor SF3B complex which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A and DDX42 (PubMed:12234937, PubMed:12738865, PubMed:28541300, PubMed:27720643). SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Interacts directly with the splicing factor U2AF (PubMed:12234937). Within the SF3B complex interacts directly (via HEAT domain) with SF3B3, SF3B5 and (via HEAT domain) with PHF5A (PubMed:27720643). Interacts directly with SF3B6 (PubMed:16432215, Ref.38, PubMed:21062891). The SF3B complex composed of SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6 and PHF5A interacts with U2AF2 (PubMed:27720643). Phosphorylated form interacts with PPP1R8 (PubMed:12105215). Interacts with PQBP1 (PubMed:23512658). Interacts with RBM17 (PubMed:17589525). Interacts with RBM39 (PubMed:24795046). Interacts with SETX (PubMed:21700224). Interacts with RBM15 (PubMed:26575292). Interacts with USH1G (PubMed:34023904). Interacts with SDE2 (PubMed:34365507). Interacts with U2AF1 (PubMed:34365507). Interacts with CACTIN (PubMed:34365507).
messages: Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).
messages: Nucleus
messages: Nucleus speckle
messages: Phosphorylated. Phosphorylation occurs concomitantly with the splicing catalytic steps. Phosphorylation on Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases promotes interaction with PPP1R8 during mitosis.

9606:ASB9
gene id: 9606:ASB9
uniprot id: A0A024RBW7
uniprot id: Q96DX5
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ankyrin SOCS box (ASB) family.
messages: Does not interact with the Elongin BC complex, likely to be a negative regulator of isoform 1.
messages: Mitochondrion
messages: Predominantly expressed in testis, kidney, and liver.
messages: Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes at least two forms of creatine kinase, CKB and CKMT1A.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

9606:GLRX
gene id: 9606:GLRX
uniprot id: A0A024RAM2
uniprot id: P35754
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glutaredoxin family.
messages: Cytoplasm
messages: Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins.

9606:POTEB3
gene id: 9606:POTEB3
uniprot id: A0JP26
names: Caution
names: Similarity
messages: Belongs to the POTE family.
messages: Maps to a duplicated region on chromosome 15; the gene is present in at least 3 almost identical copies.

9606:IRAG2
gene id: 9606:IRAG2
uniprot id: Q12912
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the IRAG2 family.
messages: Chromosome
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Expressed at high levels in pre B-cells, mature B-cells and pre T-cells. Expressed at low levels in mature T-cells and plasma B-cells. Expressed in germinal center B-cells, splenic marginal zone cells and B-cell lymphomas. Expressed in neuronal cells in the cerebral cortex, epithelial cells in tonsil, adrenal glands, zymogen-producing cells in the stomach and epithelial cells in seminal vesicles.
messages: Interacts (via coiled-coil domain) with ITPR3. Interacts with SUN1 and SUN2. Interacts with microtubules.
messages: It is uncertain whether Met-1 or Met-57 is the initiator methionine. However, according to PubMed:8021504, the initiator methionine is coded by a non-canonical CTG leucine codon; This leucine codon is in an excellent Kozak consensus located 39 bp upstream of the corresponding first mouse ATG.
messages: Nucleus envelope
messages: Plays a role in the delivery of peptides to major histocompatibility complex (MHC) class I molecules; this occurs in a transporter associated with antigen processing (TAP)-independent manner. May play a role in taste signal transduction via ITPR3. May play a role during fertilization in pronucleus congression and fusion. Plays a role in maintaining nuclear shape, maybe as a component of the LINC complex and through interaction with microtubules.
messages: The removal of the C-terminal lumenal domain occurs by proteolytic processing.
messages: centrosome
messages: spindle pole

9606:PHKG2
gene id: 9606:PHKG2
uniprot id: P15735
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
messages: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity).
messages: Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ST8SIA1
gene id: 9606:ST8SIA1
uniprot id: Q92185
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 29 family.
messages: Catalyzes the addition of sialic acid in alpha 2,8-linkage to the sialic acid moiety of the ganglioside GM3 to form ganglioside GD3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid (PubMed:7937974, PubMed:8058740, PubMed:8195250, PubMed:8631981, PubMed:8706663, PubMed:18348864, PubMed:22885356). Can catalyze the addition of a second alpha-2,8-sialic acid to GD3 to form GT3 (PubMed:8631981). Can use GM1b, GD1a and GT1b as acceptor substrates to synthesize GD1c, GT1a and GQ1b respectively (PubMed:8706663). Can synthesize unusual tetra- and pentasialylated lactosylceramide derivatives identified as GQ3 (II3Neu5Ac4-Gg2Cer) and GP3 (II3Neu5Ac5-Gg2Cer) in breast cancer cells (PubMed:22885356).
messages: Golgi apparatus membrane
messages: Strongly expressed in melanoma cell lines, adult and fetal brain and to a lesser extent in adult and fetal lung.

9606:KIR3DL1
gene id: 9606:KIR3DL1
uniprot id: P43629
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the immunoglobulin superfamily.
messages: Cell membrane
messages: Ig-like C2-type domain 2 mediates specificity through recognition of the Bw4 epitope.
messages: Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis.

9606:PATE4
gene id: 9606:PATE4
uniprot id: P0C8F1
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the PATE family.
messages: It is uncertain whether Met-1 or Met-4 is the initiator.
messages: May modulate the function of nicotinic acetylcholine receptors. May enhance sperm motility.
messages: Secreted
messages: Specifically expressed in prostate, testis and spinal cord. Present in the acrosomal region of sperm cells. Present in apical epithelial cells of prostatic duct.
messages: acrosome

9606:LPIN1
gene id: 9606:LPIN1
uniprot id: Q14693
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylation at Lys-425 and Lys-595 by KAT5 in response to fatty acids promotes translocation to the endoplasmic reticulum and synthesis of diacylglycerol.
messages: Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis and therefore controls the metabolism of fatty acids at different levels (PubMed:20231281, PubMed:29765047). Is involved in adipocyte differentiation (By similarity). Acts also as nuclear transcriptional coactivator for PPARGC1A/PPARA regulatory pathway to modulate lipid metabolism gene expression (By similarity). Recruited at the mitochondrion outer membrane and is involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity).
messages: Belongs to the lipin family.
messages: Contains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif essential for phosphatidate phosphatase activity.
messages: Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL), a transcriptional binding motif, which mediates interaction with PPARA.
messages: Endoplasmic reticulum membrane
messages: Interacts (via LXXIL motif) with PPARA (By similarity). Interacts with PPARGC1A. Interaction with PPARA and PPARGC1A leads to the formation of a complex that modulates gene transcription (By similarity). Interacts with MEF2C (By similarity).
messages: May represent a candidate gene for human lipodysytropy syndromes.
messages: Mg(2+) and, at a lesser extent, Mn(2+).
messages: Nucleus membrane
messages: Phosphorylated at multiple sites in response to insulin. Phosphorylation is controlled by the mTOR signaling pathway. Phosphorylation is decreased by epinephrine. Phosphorylation may not directly affect the catalytic activity but may regulate the localization. Dephosphorylated by the CTDNEP1-CNEP1R1 complex (By similarity).
messages: Potently inhibited by sphingolipids, in particular, the sphingoid bases sphinganine and sphingosine and ceramide-1-phosphate. Inhibited by concentrations of Mg(2+) and Mn(2+) above their optimums and by Ca(2+), Zn(2+), N-ethylmaleimide and propranolol.
messages: Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract.
messages: Sumoylated.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol

9606:ZFYVE21
gene id: 9606:ZFYVE21
uniprot id: Q9BQ24
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasmic vesicle
messages: Endosome
messages: Interacts with PTK2/FAK1.
messages: Plays a role in cell adhesion, and thereby in cell motility which requires repeated formation and disassembly of focal adhesions. Regulates microtubule-induced PTK2/FAK1 dephosphorylation, an event important for focal adhesion disassembly, as well as integrin beta-1/ITGB1 cell surface expression.
messages: The C-terminal region exhibits a structure similar to canonical PH domains, but lacks a positively charged interface to bind phosphatidylinositol phosphate.
messages: The FYVE-type zinc finger mediates interaction with PTK2/FAK1, and also interaction with PI(3)P and association with endosomes.
messages: focal adhesion

9606:BACE1
gene id: 9606:BACE1
uniprot id: A0A024R3D5
uniprot id: A0A024R3D7
uniprot id: A0A024R3E8
uniprot id: A0A024R3F9
uniprot id: B7Z3K2
uniprot id: B7Z3Z4
uniprot id: P56817
uniprot id: Q5W9H2
names: Activity Regulation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated in the endoplasmic reticulum at Lys-126, Lys-275, Lys-279, Lys-285, Lys-299, Lys-300 and Lys-307. Acetylation by NAT8 and NAT8B is transient and deacetylation probably occurs in the Golgi. Acetylation regulates the maturation, the transport to the plasma membrane, the stability and the expression of the protein.
messages: Belongs to the peptidase A1 family.
messages: Cell membrane
messages: Cell surface
messages: Cytoplasmic vesicle membrane
messages: DXXLL motif is required for a proper endocytosis and retrograde transport to the trans-Golgi network, as well as for regulation of lysosomal degradation.
messages: Early endosome
messages: Endoplasmic reticulum
messages: Endosome
messages: Expressed at high levels in the brain and pancreas. In the brain, expression is highest in the substantia nigra, locus coruleus and medulla oblongata.
messages: Inhibited by RTN3 and RTN4.
messages: Late endosome
messages: Lysosome
messages: Membrane
messages: Membrane raft
messages: Monomer. Interacts (via DXXLL motif) with GGA1, GGA2 and GGA3 (via their VHS domain); the interaction highly increases when BACE1 is phosphorylated at Ser-498 (PubMed:14567678, PubMed:15886016). Interacts with RTN1; RTN2; RTN3 and RTN4; the interaction leads to inhibition of amyloid precursor protein processing (PubMed:15286784, PubMed:16965550, PubMed:16979658). Interacts with SNX6 (PubMed:20354142). Interacts with PCSK9 (PubMed:18660751). Interacts with NAT8 and NAT8B (PubMed:19011241). Interacts with BIN1 (PubMed:27179792). Interacts (via extracellular domain) with ADAM10 (via extracellular domain) (By similarity). Interacts with SORL1; this interaction may affect binding with APP and hence reduce APP cleavage (PubMed:16407538). Interacts with NRDC AND NRG1 (By similarity).
messages: N-Glycosylated (PubMed:11083922, PubMed:17425515). Addition of a bisecting N-acetylglucosamine by MGAT3 blocks lysosomal targeting, further degradation and is required for maintaining stability under stress conditions (By similarity).
messages: Palmitoylation mediates lipid raft localization.
messages: Phosphorylation at Ser-498 is required for interaction with GGA1 and retrograded transport from endosomal compartments to the trans-Golgi network. Non-phosphorylated BACE1 enters a direct recycling route to the cell surface.
messages: Recycling endosome
messages: Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase (PubMed:10656250, PubMed:10677483, PubMed:20354142). Cleaves CHL1 (By similarity).
messages: The transmembrane domain is necessary for its activity. It determines its late Golgi localization and access to its substrate, APP.
messages: Ubiquitinated at Lys-501, ubiquitination leads to lysosomal degradation (PubMed:27302062, PubMed:16033761, PubMed:20484053, PubMed:23109336). Monoubiquitinated and 'Lys-63'-linked polyubitinated (PubMed:20484053). Deubiquitnated by USP8; inhibits lysosomal degradation (PubMed:27302062).
messages: Up-regulated by the Ca(2+)-regulated transcription factor NFATC4.
messages: axon
messages: dendrite
messages: trans-Golgi network

9606:CLK3
gene id: 9606:CLK3
uniprot id: P49761
names: Activity Regulation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Autophosphorylates on all three types of residues.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Lammer subfamily.
messages: Cytoplasm
messages: Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Phosphorylates SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells.
messages: Endothelial cells.
messages: Lacks the kinase domain. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Leucettine L41 inhibits its kinase activity and affects the regulation of alternative splicing mediated by phosphorylation of SR proteins.
messages: Nucleus
messages: Nucleus speckle
messages: acrosome

9606:ZNF169
gene id: 9606:ZNF169
uniprot id: Q14929
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Highly expressed in kidney, weakly expressed in heart, liver, spleen, and small intestine. Not expressed in adult brain or spinal cord.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:ZNF30
gene id: 9606:ZNF30
uniprot id: P17039
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus

9606:SMN2
gene id: 9606:SMN2
uniprot id: E7EQZ4
uniprot id: Q16637
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SMN family.
messages: Cajal body
messages: Cytoplasm
messages: Cytoplasmic granule
messages: Does not homooligomerize (PubMed:10500148). Does not interact with SNRPB (PubMed:10500148).
messages: Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level).
messages: Homooligomer; may form higher order homooligomers in the dimer to octamer range (PubMed:26092730, PubMed:10500148, PubMed:14715275, PubMed:21816274, PubMed:17178713, PubMed:23022347). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:9323129, PubMed:17178713). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:12065586, PubMed:18984161). Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259 (PubMed:12095920). Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3 (PubMed:11574476, PubMed:12095920, PubMed:10500148). Interacts with GEMIN2; the interaction is direct (PubMed:26092730, PubMed:10500148, PubMed:21816274, PubMed:31799625, PubMed:17178713, PubMed:22607171, PubMed:23022347). Interacts with GEMIN3; the interaction is direct (PubMed:17178713). Interacts with GEMIN8; the interaction is direct (PubMed:33754639, PubMed:17178713). Interacts with SNRPB; the interaction is direct (PubMed:10500148). Interacts (via Tudor domain) with SNRPD1 (via C-terminus); the interaction is direct (PubMed:10500148, PubMed:11135666). Interacts with SNRPD2; the interaction is direct (PubMed:10500148). Interacts (via Tudor domain) with SNRPD3 (via C-terminus); the interaction is direct (PubMed:10500148, PubMed:11135666, PubMed:22101937, PubMed:12628254). Interacts with SNRPE; the interaction is direct (PubMed:10500148). Interacts with OSTF1, LSM10, LSM11 and RPP20/POP7 (PubMed:11551898, PubMed:12975319, PubMed:16087681, PubMed:14715275). Interacts (via C-terminal region) with ZPR1 (via C-terminal region) (PubMed:11283611). Interacts (via Tudor domain) with COIL (PubMed:11641277). Interacts with SETX; recruits SETX to …
messages: Perikaryon
messages: Primarily derived from SMN1 gene.
messages: The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:9845364, PubMed:18984161). Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core) (PubMed:18984161). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161). Within the SMN complex, SMN1 acts as a structural backbone and together with GEMIN2 it gathers the Sm complex subunits (PubMed:21816274, PubMed:22101937, PubMed:17178713). Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP (PubMed:31799625). Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development (PubMed:23063131). Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination (PubMed:26700805). May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).
messages: The SMN gene is present in two highly homologous and functional copies (TelSMN/SMN1 and CenSMN/SMN2). The telomeric copy of SMN gene (TelSMN/SMN1) seems to be the SMA-determining gene while the centromeric copy seems unaffected.
messages: The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Thought to be a non-functional protein that lacks the capacity to oligomerize and thus cannot interact with Sm proteins. Primarily derived from SMN2 gene.
messages: Z line
messages: axon
messages: gem
messages: neuron projection

9606:EMX1
gene id: 9606:EMX1
uniprot id: Q04741
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the EMX homeobox family.
messages: Cerebral cortex.
messages: Cytoplasm
messages: Interacts with WRD11 (via the N-terminal and the central portion of the protein); the interaction associates EMX1 with GLI3.
messages: Nucleus
messages: Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.

9606:KLF15
gene id: 9606:KLF15
uniprot id: Q9UIH9
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Sp1 C2H2-type zinc-finger protein family.
messages: Highly expressed in liver, skeletal muscle, and kidney. Expressed in cardiomyocytes. Expression is highly reduced in cardiac tissue of patients with non-ischemic cardiomyopathy and aortic aneurysm, and in glomerular disease. Not expressed in bone marrow or lymphoid tissues.
messages: In podocytes, up-regulated by retinoic acid.
messages: Interacts with MYOCD and EP300.
messages: KLF15 deficiency results in loss of rhythmic QT variation and abnormal heart repolarization (PubMed:22367544). It may play a role in susceptibility to ventricular arrhythmias (PubMed:22367544), and development of pathological cardiac hypertrophy leading to heart failure (PubMed:20375365).
messages: Nucleus
messages: The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
messages: Transcriptional regulator that binds to the GA element of the CLCNKA promoter. Binds to the KCNIP2 promoter and regulates KCNIP2 circadian expression in the heart (By similarity). Is a repressor of CCN2 expression, involved in the control of cardiac fibrosis. It is also involved in the control of cardiac hypertrophy acting through the inhibition of MEF2A and GATA4 (By similarity). Involved in podocyte differentiation (By similarity). Inhibits MYOCD activity. Is a negative regulator of TP53 acetylation. Inhibits NF-kappa-B activation through repression of EP300-dependent RELA acetylation.

9606:RABAC1
gene id: 9606:RABAC1
uniprot id: Q9UI14
names: Caution
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PRA1 family.
messages: Cell membrane
messages: Cytoplasm
messages: General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI.
messages: Golgi apparatus
messages: Homodimer. Interacts with VAMP2 (synaptobrevin-2), GDI1, and PCLO (By similarity). Interacts specifically with prenylated Rab proteins; strongly with RAB4B, RAB5A and RAB5C, and weakly with RAB4A, RAB6, RAB7A, RAB17 and RAB22. Interacts with NDRG1.
messages: In contrast to the mouse ortholog, it does not interact with Ras.
messages: In fetal tissues, it is more abundant in kidney and lung.
messages: Ubiquitous. Strongest expression found in placenta, pituitary gland, kidney, lung and stomach.
messages: synaptic vesicle

9606:FAM3A
gene id: 9606:FAM3A
uniprot id: D3DWX8
uniprot id: P98173
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the FAM3 family.
messages: In similar amounts in testis, pancreas, adrenal, placenta, brain, fetal brain, liver, kidney, skeletal muscle and heart.
messages: May act as a defensin against invading fungal microorganisms.
messages: Secreted

9606:GC
gene id: 9606:GC
uniprot id: P02774
names: Function
names: Miscellaneous
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Allele GC*1S is O-glycosylated at Thr-436 (PubMed:20079467). The trisaccharide sugar moiety can be modified by the successive removal of neuraminic acid and galactose leaving an O-mceeN-acetyl-galactosamine. This conversion is thought to produce a macrophage-activating factor (Gc-MAF). Only a minor proportion of plasma GC is O-glycosylated (PubMed:17360250). The potential N-glycosylation site predicted at Asn-288 is thought to be nonglycosylated.
messages: Associates with membrane-bound immunoglobulin on the surface of B-lymphocytes and with IgG Fc receptor on the membranes of T-lymphocytes. Interacts with LRP2; the interaction is required for renal uptake of GC in complex with 25-hydroxyvitamin D3 (By similarity).
messages: Belongs to the ALB/AFP/VDB family.
messages: Expressed in the liver. Found in plasma, ascites, cerebrospinal fluid and urine.
messages: Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Over 80 variants of human DBP have been identified. The three most common alleles are called GC*1F, GC*1S, and GC*2. The sequence shown is that of the GC*1A1 allele.
messages: Secreted

9606:NR2C1
gene id: 9606:NR2C1
uniprot id: H9NIM2
uniprot id: H9NIM3
uniprot id: P13056
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the nuclear hormone receptor family.
messages: Belongs to the nuclear hormone receptor family. NR2 subfamily.
messages: Homodimer (By similarity). Heterodimer; binds DNA as a heterodimer with NR2C2 required for chromatin remodeling and for binding to promoter regions such as globin DR1 repeats (By similarity). Interacts with NRIP1 (via its LXXLL motifs); the interaction provides corepressor activity. Interacts with HDAC3 (via the DNA-binding domain). Interacts with HDAC4 (via the DNA-binding domain). Interacts with PIAS1; the interaction is required for sumoylation of NR2C1. Interacts with UBE2I; the interaction is required for sumoylation of NR2C1. Interacts with KAT2B; the interaction acts as a corepressor of gene expression (By similarity). Interacts with ESR1; the interaction prevents homodimerization of ESR1 and suppresses its transcriptional activity and cell growth.
messages: Nucleus
messages: Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiation. Mediator of retinoic acid-regulated preadipocyte proliferation.
messages: PML body
messages: Phosphorylated on several serine and threonine residues. Phosphorylation on Thr-222, stimulated by all-trans retinoic acid (atRA) mediates PML location and sumoylation in proliferating cells which then modulates its association with effector molecules, KAT2B and NRIP1. Phosphorylation on Ser-581 by PKC is important for protein stability and function as activator of RARB (By similarity).
messages: Sumoylation requires both PIAS1 and UBE2I. Sumoylation appears to dissociate NR2C1 from the PML nuclear bodies. Enhances the interaction with NRIP1 but inhibits interaction with KAT2B. In proliferating cells, stimulation by all-trans retinoic acid, activation of MAPK1-mediated phosphorylation and recruitment to PML bodies with subsequent sumoylation, suppresses OCT4 expression (By similarity).

9606:TAS2R42
gene id: 9606:TAS2R42
uniprot id: A0A0G2JPZ2
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor T2R family.
messages: Membrane

9606:PPP1R10
gene id: 9606:PPP1R10
uniprot id: Q2L6I0
uniprot id: Q96QC0
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC. Interacts with PPP1CC. Interacts with PPP1CA, WDR82 and TOX4 (By similarity).
messages: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
messages: Nucleus
messages: Phosphorylated on Ser-398 by PKA within the region necessary for interaction with PPP1CA.
messages: Scaffold protein which mediates the formation of the PTW/PP1 phosphatase complex by providing a binding platform to each component of the complex. The PTW/PP1 phosphatase complex plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Mediates interaction of WDR82 and PPP1CA. Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G) homopolymers (By similarity).
messages: Scaffold protein which mediates the formation of the PTW/PP1 phosphatase complex by providing a binding platform to each component of the complex. The PTW/PP1 phosphatase complex plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Mediates interaction of WDR82 and PPP1CA. Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G) homopolymers.

9606:SMG9
gene id: 9606:SMG9
uniprot id: A0A024R0Q0
uniprot id: Q9H0W8
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Belongs to the SMG9 family.
messages: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104). Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eye development (By similarity).
messages: Phosphorylated by SMG1.
messages: Self-associates to form homodimers and forms heterodimers with SMG8; these assembly forms may represent SMG1C intermediate forms (PubMed:20817927). Component of the SMG1C complex composed of SMG1, SMG8 and SMG9 (PubMed:33205750). Interacts with DHX34; the interaction is RNA-independent (PubMed:25220460).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PIGK
gene id: 9606:PIGK
uniprot id: Q92643
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peptidase C13 family.
messages: Endoplasmic reticulum membrane
messages: Forms a complex with PIGT, PIGS, PIGU and GAA1.
messages: Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.

9606:OTOP3
gene id: 9606:OTOP3
uniprot id: A0A2U3TZI1
uniprot id: Q7RTS5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the otopetrin family.
messages: Cell membrane
messages: Membrane
messages: Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes.

9606:ZBTB25
gene id: 9606:ZBTB25
uniprot id: P24278
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed mainly in hematopoietic cells and testis.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:GAGE12F
gene id: 9606:GAGE12F
uniprot id: O76087
uniprot id: P0CL80
uniprot id: P0CL81
uniprot id: P0CL82
names: Caution
names: Miscellaneous
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the GAGE family.
messages: Expressed in some prostate cancer tissues but not in normal prostate tissue.
messages: Forms tetramers.
messages: The first GAGE nomenclature was based on identified mRNA sequences, but the high identity of the GAGE members made impossible to separate products of paralogous genes from polymorph products. PubMed:18179644 presented a new GAGE gene nomenclature based on the identified genes and their products.
messages: This gene belongs to a family of genes organized in clustered repeats. They have a high degree of predicted sequence identity, but differ by scattered single nucleotide substitution. Their sequences contain either the antigenic peptide YYWPRPRRY or YRPRPRRY which is recognized by cytotoxic T-cells.
messages: This gene belongs to a multigene family expressed in a large variety of tumors whereas in normal tissues, expression is restricted to germ cells. These genes organized in clustered repeats, have a high degree of predicted sequence identity, but differ by scattered single nucleotide substitution. Their sequences contain either the antigenic peptide YYWPRPRRY or YRPRPRRY which is recognized by cytotoxic T-cells.

9606:FER1L6
gene id: 9606:FER1L6
uniprot id: Q2WGJ9
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ferlin family.
messages: Membrane

9606:PPM1N
gene id: 9606:PPM1N
uniprot id: Q8N819
names: Cofactor
names: Similarity
messages: Belongs to the PP2C family.
messages: Binds 2 magnesium or manganese ions per subunit.

9606:KCTD19
gene id: 9606:KCTD19
uniprot id: Q17RG1
names: Subunit
messages: Identified in a complex with ZNF541, HDAC1 and HSPA2.

9606:TRIM62
gene id: 9606:TRIM62
uniprot id: Q9BVG3
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRIM/RBCC family.
messages: Cytoplasm
messages: E3 ubiquitin ligase that plays a role in antifungal immunity by mediating 'Lys-27'-linked ubiquitination of CARD9 downstream of C-type lectin receptors; leading to CARD9 activation, followed by activation of NF-kappa-B and MAP kinase p38 pathways (PubMed:26488816). E3 ubiquitin ligase activity is dependent on E2 ubiquitin-conjugating enzyme UBE2D2 (PubMed:23402750).
messages: Interacts with the ubiquitin-conjugating enzyme, UBE2D2.
messages: Polyubiquitinated, autoubiquitinated in the presence of UBE2D2.
messages: The RING finger is required for ubiquitin ligase activity.

9606:CORO1A
gene id: 9606:CORO1A
uniprot id: A0A024R611
uniprot id: P31146
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the WD repeat coronin family.
messages: Binds actin.
messages: Expressed in brain, thymus, spleen, bone marrow and lymph node. Low in lung and gut.
messages: May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria-infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes.
messages: Membrane
messages: Polyubiquitinated by RNF128 with 'Lys-48'-linked chains, leading to proteasomal degradation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cell cortex
messages: cytoskeleton
messages: phagosome membrane
messages: phosphorylation at Thr-412 by PKC strongly down-regulates the association with actin.

9606:FOLR3
gene id: 9606:FOLR3
uniprot id: P41439
names: Caution
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the folate receptor family.
messages: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate.
messages: It is uncertain whether Met-1 or Met-3 is the initiator.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Variant in position: 150:MSAHPTWGPGSGRSTRAGAKSAF->ECSPNLGPWIRQVNQSWRKERILNVPLCKEDCERW WEDCRTSYTCKSNWHKGWNWTSGINECPAGALCSTFESYFPTPAALCEGLWSHSFKVSNYSRG.
messages: Secreted
messages: Spleen, thymus, bone marrow, ovarian carcinoma, and uterine carcinoma.

9606:ZNF490
gene id: 9606:ZNF490
uniprot id: Q9ULM2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:AKAP10
gene id: 9606:AKAP10
uniprot id: O43572
names: Domain
names: Function
names: Subcellular Location Annotation
messages: Cytoplasm
messages: Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity).
messages: Membrane
messages: Mitochondrion
messages: RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.

9606:TRIM2
gene id: 9606:TRIM2
uniprot id: A0A6Q8PF63
uniprot id: A0A6Q8PFB0
uniprot id: A0A6Q8PG16
uniprot id: Q9C040
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRIM/RBCC family.
messages: Cytoplasm
messages: Interacts with myosin V; myosin V may not be a substrate for ubiquitination (By similarity). Interacts with NEFL (By similarity). Interacts with phosphorylated BCL2L11. Interacts with SIRPA (By similarity).
messages: RING-type zinc finger-dependent and UBE2D1-dependent autoubiquitination.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The interaction with myosin V is dependent upon its NHL repeats, which form a beta-propeller (NHL) domain containing six blades.
messages: UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance. Plays a role in antiviral immunity and limits New World arenavirus infection independently of its ubiquitin ligase activity (PubMed:24068738).

9606:BCL10
gene id: 9606:BCL10
uniprot id: O95999
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving BCL10 is recurrent in low-grade mucosa-associated lymphoid tissue (MALT lymphoma). Translocation t(1;14)(p22;q32). Although the BCL10/IgH translocation leaves the coding region of BCL10 intact, frequent BCL10 mutations could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide transitions.
messages: Homomultimer; homooligomerized following recruitment by CARD domain-containing proteins that form a nucleating helical template that recruits BCL10 via CARD-CARD interaction (PubMed:24074955). Self-associates by CARD-CARD interaction and interacts with other CARD-proteins such as CARD9, CARD10, CARD11 and CARD14 (PubMed:26488816, PubMed:27113748, PubMed:27777308, PubMed:28628108, PubMed:31296852, PubMed:24074955). Forms a complex with CARD14 and MALT1; resulting in the formation of a CBM (CARD14-BCL10-MALT1) complex (PubMed:27113748). Forms a complex with CARD11 and MALT1; resulting in the formation of a CBM (CARD11-BCL10-MALT1) complex (PubMed:28628108, PubMed:24074955). Forms a complex with CARD9 and MALT1; resulting in the formation of a CBM (CARD9-BCL10-MALT1) complex (By similarity). Found in a membrane raft complex, at least composed of BCL10, CARD11, DPP4 and IKBKB (PubMed:17287217). Binds caspase-9 with its C-terminal domain (PubMed:10187815). Interacts with TRAF2 and BIRC2/c-IAP2 (PubMed:11466612). Interacts with PELI2 and SOCS3; these interactions may be mutually exclusive (By similarity).
messages: Membrane raft
messages: Phosphorylated. Phosphorylation results in dissociation from TRAF2 and binding to BIRC2/c-IAP2 (PubMed:11466612). Phosphorylated by IKBKB/IKKB (PubMed:17213322).
messages: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation (PubMed:10187770, PubMed:10364242, PubMed:10400625, PubMed:25365219, PubMed:24074955). Acts by channeling adaptive and innate immune signaling downstream of CARD domain-containing proteins CARD9, CARD11 and CARD14 to activate NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:24074955). Recruited by activated CARD domain-containing proteins: homooligomerized CARD domain-containing proteins form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10, subsequent recruitment of MALT1 and formation of a CBM complex (PubMed:24074955). This leads to activation of NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:18287044, PubMed:27777308, PubMed:24074955). Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity (PubMed:26488816). Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) (PubMed:18264101, PubMed:18287044, PubMed:27777308, PubMed:24074955). Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK (PubMed:10187815).
messages: Proteolytically cleaved by MALT1; required for T-cell activation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated via both 'Lys-63'-linked and linear ('Met-1'-linked) polyubiquitin chains in response to T-cell receptor (TCR) activation (PubMed:18287044, PubMed:27777308). Ubiquitination is recognized by IKBKG/NEMO, the regulatory subunit of I-kappa-B kinase (IKK), and is required for TCR-induced NF-kappa-B activation (PubMed:18287044, PubMed:27777308). Linear ubiquitination at Lys-17, Lys-31 and Lys-63 is mediated by RNF31/HOIP; linear ubiquitination is recognized with much higher affinity than 'Lys-63'-linked ubiquitin by IKBKG/NEMO (PubMed:27777308). CARD11 is required for linear ubiquitination by HOIP by promoting the targeting of BCL10 to RNF31/HOIP (PubMed:27777308).
messages: Ubiquitous.
messages: perinuclear region

9606:TFPT
gene id: 9606:TFPT
uniprot id: P0C1Z6
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving TFPT is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Inversion inv(19)(p13;q13) with TCF3.
messages: Appears to promote apoptosis in a p53/TP53-independent manner.
messages: Interacts with NOL3; translocates NOL3 into the nucleus and negatively regulated TFPT-induced cell death (By similarity). Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the N-terminus of INO80.
messages: Nucleus
messages: Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.

9606:C7orf31
gene id: 9606:C7orf31
uniprot id: Q8N865
names: Subcellular Location Annotation
messages: centrosome

9606:DNAH1
gene id: 9606:DNAH1
uniprot id: A0A140VJI6
uniprot id: Q9P2D7
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the dynein heavy chain family.
messages: Consists of at least two heavy chains and a number of intermediate and light chains.
messages: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function (By similarity).
messages: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain (PubMed:11175280).
messages: Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme (PubMed:24360805).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium axoneme
messages: flagellum

9606:GOLGA6L10
gene id: 9606:GOLGA6L10
uniprot id: A6NI86
names: Similarity
messages: Belongs to the GOLGA6 family.

9606:LRRC14
gene id: 9606:LRRC14
uniprot id: Q15048
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the PRAME family. LRRC14 subfamily.
messages: Cytoplasm
messages: Down-regulated in response to toll-like receptor ligand.
messages: Interacts with IKBKB; disrupts IKBKB-IKBKG interaction preventing I-kappa-B-kinase (IKK) core complex formation and leading to a decrease of IKBKB phosphorylation and NF-kappaB activation (PubMed:27426725). Interacts with CHUK (PubMed:27426725).
messages: Negatively regulates Toll-like receptor-mediated NF-kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB.

9606:LRP2BP
gene id: 9606:LRP2BP
uniprot id: Q9P2M1
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts with LRP2.
messages: May act as an adapter that regulates LRP2 function.

9606:ARMCX5
gene id: 9606:ARMCX5
uniprot id: Q6P1M9
names: Similarity
messages: Belongs to the eutherian X-chromosome-specific Armcx family.

9606:GCG
gene id: 9606:GCG
uniprot id: P01275
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Pharmaceutical
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Available under the names Glucagon (Eli Lilly) and GlucaGen or Glucagon Novo Nordisk (Novo Nordisk). Used to treat severe hypoglycemia in insulin-dependent diabetics.
messages: Belongs to the glucagon family.
messages: In the glucagon antagonist, His-53 and Phe-58 are missing. This antagonist has been successfully utilized to reduce glucose concentration in vivo.
messages: Induced in response to nutrient ingestion.
messages: May modulate gastric acid secretion and the gastro-pyloro-duodenal activity. May play an important role in intestinal mucosal growth in the early period of life.
messages: Plays a key role in glucose metabolism and homeostasis. Regulates blood glucose by increasing gluconeogenesis and decreasing glycolysis. A counterregulatory hormone of insulin, raises plasma glucose levels in response to insulin-induced hypoglycemia. Plays an important role in initiating and maintaining hyperglycemic conditions in diabetes.
messages: Potent stimulator of glucose-dependent insulin release. Also stimulates insulin release in response to IL6 (PubMed:22037645). Plays important roles on gastric motility and the suppression of plasma glucagon levels. May be involved in the suppression of satiety and stimulation of glucose disposal in peripheral tissues, independent of the actions of insulin. Has growth-promoting activities on intestinal epithelium. May also regulate the hypothalamic pituitary axis (HPA) via effects on LH, TSH, CRH, oxytocin, and vasopressin secretion. Increases islet mass through stimulation of islet neogenesis and pancreatic beta cell proliferation. Inhibits beta cell apoptosis (Probable).
messages: Production by islet alpha cell is increased by IL6.
messages: Proglucagon is post-translationally processed in a tissue-specific manner in pancreatic A cells and intestinal L cells. In pancreatic A cells, the major bioactive hormone is glucagon cleaved by PCSK2/PC2. In the intestinal L cells PCSK1/PC1 liberates GLP-1, GLP-2, glicentin and oxyntomodulin. GLP-1 is further N-terminally truncated by post-translational processing in the intestinal L cells resulting in GLP-1(7-37) GLP-1-(7-36)amide. The C-terminal amidation is neither important for the metabolism of GLP-1 nor for its effects on the endocrine pancreas.
messages: Release is stimulated by hypoglycemia and inhibited by hyperglycemia, insulin, and somatostatin.
messages: Secreted
messages: Secreted from enteroendocrine cells throughout the gastrointestinal tract.
messages: Secreted from enteroendocrine cells throughout the gastrointestinal tract. Also secreted in selected neurons in the brain.
messages: Secreted in the A cells of the islets of Langerhans (PubMed:22037645). Secreted from enteroendocrine L cells throughout the gastrointestinal tract (PubMed:22037645). Also secreted in selected neurons in the brain.
messages: Secreted in the A cells of the islets of Langerhans.
messages: Significantly reduces food intake. Inhibits gastric emptying in humans. Suppression of gastric emptying may lead to increased gastric distension, which may contribute to satiety by causing a sensation of fullness.
messages: Stimulates intestinal growth and up-regulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. The gastrointestinal tract, from the stomach to the colon is the principal target for GLP-2 action. Plays a key role in nutrient homeostasis, enhancing nutrient assimilation through enhanced gastrointestinal function, as well as increasing nutrient disposal. Stimulates intestinal glucose transport and decreases mucosal permeability.

9606:KLF16
gene id: 9606:KLF16
uniprot id: Q9BXK1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Sp1 C2H2-type zinc-finger protein family.
messages: Nucleus
messages: Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain (By similarity).

9606:CACNA1I
gene id: 9606:CACNA1I
uniprot id: Q9P0X4
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily.
messages: Brain specific.
messages: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
messages: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
messages: Interacts with CATSPER1 and CATSPER2, leading to suppress T-type calcium channel activity.
messages: Membrane
messages: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity).

9606:HK3
gene id: 9606:HK3
uniprot id: A0A024R7R1
uniprot id: P52790
names: Activity Regulation
names: Domain
names: Function
names: Similarity
messages: Belongs to the hexokinase family.
messages: Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D-fructose 6-phosphate, respectively) (PubMed:8717435). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:8717435).
messages: Hexokinase is an allosteric enzyme inhibited by its product D-glucose 6-phosphate.
messages: The N- and C-terminal halves of this hexokinase contain a hexokinase domain. The catalytic activity is associated with the C-terminus while regulatory function is associated with the N-terminus.

9606:DLGAP3
gene id: 9606:DLGAP3
uniprot id: O95886
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SAPAP family.
messages: Cell membrane
messages: Interacts with DLG4/PSD-95.
messages: May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.
messages: Postsynaptic density
messages: Synapse

9606:TOMM6
gene id: 9606:TOMM6
uniprot id: Q96B49
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Tom6 family.
messages: Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70).
messages: Mitochondrion outer membrane

9606:BMPR1B
gene id: 9606:BMPR1B
uniprot id: A8KAE3
uniprot id: O00238
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Autophosphorylated.
messages: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
messages: Cell membrane
messages: Interacts with high affinity with GDF5; positively regulates chondrocyte differentiation. Interacts with SCUBE3 (PubMed:33308444).
messages: Membrane
messages: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MSL2
gene id: 9606:MSL2
uniprot id: Q9HCI7
names: Function
names: Similarity
names: Subunit
messages: Belongs to the MSL2 family.
messages: Component of a multisubunit histone acetyltransferase complex (MSL) at least composed of the KAT8/MOF/MYST1, MSL1/hampin, MSL2 and MSL3 (PubMed:16543150, PubMed:23084835). Forms a MSL heterotetrameric core with MSL1 (PubMed:16543150).
messages: Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at lysine 16 which is implicated in the formation of higher-order chromatin structure. Acts as an E3 ubiquitin ligase that promotes monoubiquitination of histone H2B at 'Lys-35' (H2BK34Ub), but not that of H2A. This activity is greatly enhanced by heterodimerization with MSL1. H2B ubiquitination in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1.

9606:USP11
gene id: 9606:USP11
uniprot id: B4DGK3
uniprot id: P51784
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with papilloma virus protein 16E7 (PubMed:18408009).
messages: Belongs to the peptidase C19 family.
messages: Chromosome
messages: Cytoplasm
messages: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.
messages: It is uncertain whether Met-1 or Met-44 is the initiator.
messages: Monomer (PubMed:24724799). Associated component of the Polycomb group (PcG) multiprotein PRC1-like complex (PubMed:20601937). Interacts with RANBP9/RANBPM (PubMed:12084015). Interacts with BRCA2 (PubMed:15314155). Interacts with CHUK/IKKA (PubMed:17897950). Interacts with NFKBIA (PubMed:19874889). Interacts with SPRY3, RAE1, MYCBP2/PAM, and KCTD6 (PubMed:29293652).
messages: Nucleus
messages: Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains (PubMed:12084015, PubMed:15314155, PubMed:17897950, PubMed:19874889, PubMed:20233726, PubMed:28992046, PubMed:24724799). Inhibits the degradation of target proteins by the proteasome (PubMed:12084015). Cleaves preferentially 'Lys-6' and 'Lys-63'-linked ubiquitin chains. Has lower activity with 'Lys-11' and 'Lys-33'-linked ubiquitin chains, and extremely low activity with 'Lys-27', 'Lys-29' and 'Lys-48'-linked ubiquitin chains (in vitro) (PubMed:24724799). Plays a role in the regulation of pathways leading to NF-kappa-B activation (PubMed:17897950, PubMed:19874889). Plays a role in the regulation of DNA repair after double-stranded DNA breaks (PubMed:15314155, PubMed:20233726). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937). Promotes cell proliferation by deubiquitinating phosphorylated E2F1 (PubMed:28992046).

9606:PTRH1
gene id: 9606:PTRH1
uniprot id: Q86Y79
names: Similarity
messages: Belongs to the PTH family.

9606:CSF1R
gene id: 9606:CSF1R
uniprot id: P07333
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant expression of CSF1 or CSF1R can promote cancer cell proliferation, invasion and formation of metastases. Overexpression of CSF1 or CSF1R is observed in a significant percentage of breast, ovarian, prostate, and endometrial cancers.
messages: Aberrant expression of CSF1 or CSF1R may play a role in inflammatory diseases, such as rheumatoid arthritis, glomerulonephritis, atherosclerosis, and allograft rejection.
messages: Autophosphorylated in response to CSF1 or IL34 binding (PubMed:24336230, PubMed:20489731, PubMed:23408870). Phosphorylation at Tyr-561 is important for normal down-regulation of signaling by ubiquitination, internalization and degradation. Phosphorylation at Tyr-561 and Tyr-809 is important for interaction with SRC family members, including FYN, YES1 and SRC, and for subsequent activation of these protein kinases. Phosphorylation at Tyr-699 and Tyr-923 is important for interaction with GRB2. Phosphorylation at Tyr-723 is important for interaction with PIK3R1. Phosphorylation at Tyr-708 is important for normal receptor degradation. Phosphorylation at Tyr-723 and Tyr-809 is important for interaction with PLCG2. Phosphorylation at Tyr-969 is important for interaction with CBL. Dephosphorylation by PTPN2 negatively regulates downstream signaling and macrophage differentiation.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
messages: Cell membrane
messages: Expressed in bone marrow and in differentiated blood mononuclear cells.
messages: Interacts with INPPL1/SHIP2 and THOC5 (By similarity). Monomer. Homodimer. Interacts with CSF1 and IL34. Interaction with dimeric CSF1 or IL34 leads to receptor homodimerization. Interacts (tyrosine phosphorylated) with PLCG2 (via SH2 domain). Interacts (tyrosine phosphorylated) with PIK3R1 (via SH2 domain). Interacts (tyrosine phosphorylated) with FYN, YES1 and SRC (via SH2 domain). Interacts (tyrosine phosphorylated) with CBL, GRB2 and SLA2.
messages: Present in an inactive conformation in the absence of bound ligand. CSF1 or IL34 binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib/STI-571 (Gleevec), dasatinib, sunitinib/SU11248, lestaurtinib/CEP-701, midostaurin/PKC-412, Ki20227, linifanib/ABT-869, Axitinib/AG013736, sorafenib/BAY 43-9006 and GW2580.
messages: The activation loop plays an important role in the regulation of kinase activity. Phosphorylation of tyrosine residues in this region leads to a conformation change and activation of the kinase.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The juxtamembrane domain functions as autoinhibitory region. Phosphorylation of tyrosine residues in this region leads to a conformation change and activation of the kinase.
messages: Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of pro-inflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding, including the ERK1/2 and the JNK pathway (PubMed:20504948, PubMed:30982609). Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases, such a…
messages: Ubiquitinated. Becomes rapidly polyubiquitinated after autophosphorylation, leading to its degradation.
messages: Up-regulated by glucocorticoids.

9606:PIGA
gene id: 9606:PIGA
uniprot id: P37287
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
messages: Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.
messages: Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815, PubMed:9463366). Interacts with PIGC, PIGH, PIGP, PIGQ and DPM2 (PubMed:16162815). Interacts directly with PIGY; this interaction regulates glycosylphosphatidylinositol-N-acetylglucosaminyltransferase activity (PubMed:16162815). Interacts with PIGQ (PubMed:9463366).
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Endoplasmic reticulum membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. PIGA deficiency causes disruption of iron homeostasis, due to failure to attach GPI anchors to hemojuvelin (HJV), a BMP coreceptor that regulates hepcidin (HAMP) expression. HAMP is an essential regulator of iron absorption and distribution across tissues. PIGA-deficient cells lack hemojuvelin surface expression and show significantly lower HAMP mRNA levels compared to control cells.

9606:TMEM131L
gene id: 9606:TMEM131L
uniprot id: A2VDJ0
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TMEM131 family.
messages: Cell membrane
messages: Cytoplasm
messages: During intrathymic development, transcript levels strongly increase from pro-DN1 thymocytes to DN3a cells, in which they peak, and drop immediately after beta-selection in their DN3b successors. The subcellular location of the protein also varies, from punctate cytoplasmic structures in DN1 and DN2 cells to large crescent-shaped membrane structures in DN3 cells, which preferentially localize in cell-to-cell contact zones.
messages: Endoplasmic reticulum
messages: Expressed in thymocytes.
messages: Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation.

9606:NT5C3B
gene id: 9606:NT5C3B
uniprot id: Q969T7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the pyrimidine 5'-nucleotidase family.
messages: Cytoplasm
messages: Monomer.
messages: Specifically hydrolyzes 7-methylguanosine monophosphate (m(7)GMP) to 7-methylguanosine and inorganic phosphate (PubMed:23223233, PubMed:24603684). The specific activity for m(7)GMP may protect cells against undesired salvage of m(7)GMP and its incorporation into nucleic acids (PubMed:23223233). Also has weak activity for CMP (PubMed:23223233, PubMed:24603684). UMP and purine nucleotides are poor substrates (PubMed:23223233).

9606:INA
gene id: 9606:INA
uniprot id: Q16352
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the intermediate filament family.
messages: Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NEFL to form the filamentous backbone to which NEFM and NEFH attach to form the cross-bridges. May also cooperate with the neuronal intermediate filament protein PRPH to form filamentous networks (By similarity).
messages: Expressed in brain as early as the 16th week of gestation, and increased rapidly and reached a steady state level by the 18th week of gestation.
messages: Forms homodimers (in vitro) (By similarity). Forms heterodimers with NEFL, NEFM or NEFH (in vitro) (By similarity).
messages: Found predominantly in adult CNS.
messages: O-glycosylated.

9606:PDCD6IP
gene id: 9606:PDCD6IP
uniprot id: Q8WUM4
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with EIAV p9.
messages: (Microbial infection) Interacts with HIV-1 p6 (PubMed:14505569, PubMed:17350572, PubMed:17277784, PubMed:18066081). Interacts with HIV-1 p9 (PubMed:18066081).
messages: (Microbial infection) Interacts with Murine leukemia virus Gag polyprotein (via LYPX(n)L motif).
messages: (Microbial infection) Interacts with ebola virus protein VP40 (via YPx(n)L/I motif).
messages: (Microbial infection) Involved in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function requires the interaction with CHMP4B. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as enveloped virus budding (HIV-1 and other lentiviruses).
messages: May be phosphorylated on tyrosine residues by activated PDGFRB.
messages: Melanosome
messages: Midbody ring
messages: Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires the sequential function of ESCRT-O, -I,-II and -III complexes (PubMed:14739459). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:17853893, PubMed:17556548). Adapter for a subset of ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis (PubMed:17853893, PubMed:17556548, PubMed:18641129). May play a role in the regulation of both apoptosis and cell proliferation. Regulates exosome biogenesis in concert with SDC1/4 and SDCBP (PubMed:22660413). By interacting with F-actin, PARD3 and TJP1 secures the proper assembly and positioning of actomyosin-tight junction complex at the apical sides of adjacent epithelial cells that defines a spatial membrane domain essential for the maintenance of epithelial cell polarity and barrier (By similarity).
messages: Self-associates (PubMed:14505570, PubMed:14519844). Interacts with SH3KBP1/CIN85 (By similarity). Interacts with PDCD6 in a calcium -dependent manner (PubMed:16957052, PubMed:18256029, PubMed:18940611). Interacts with TSG101 in a calcium-dependent manner; PDCD6IP homooligomerization may be required for TSG101-binding (PubMed:14505570, PubMed:14519844, PubMed:18641129, PubMed:19520058, PubMed:17350572). Interacts with SGSM3 (PubMed:15849434). Directly interacts with CHMP4A, CHMP4B and CHMP4C (PubMed:12860994, PubMed:14505569, PubMed:14505570, PubMed:14519844, PubMed:14678797, PubMed:14583093, PubMed:17428861, PubMed:17350572, PubMed:18511562). Directly interacts with CEP55 in a 1:2 stoechiometry (PubMed:17853893, PubMed:17556548, PubMed:18641129, PubMed:18948538). The interaction with CEP55 is required for PDCD6IP targeting to the midbody (PubMed:18641129). May interact with PDGFRB (PubMed:20494825). Interacts with SH3GL1 and SH3GL2/endophilin-1 (PubMed:17350572). Forms a complex with SDCBP and SDC2 (PubMed:22660413). Found in a complex with F-actin, TJP1/ZO-1 and PARD3 (By similarity). Interacts with CD2AP (PubMed:17853893). Interacts with ARRDC1 (PubMed:21191027).
messages: centrosome
messages: cytosol
messages: extracellular exosome
messages: tight junction

9606:CP
gene id: 9606:CP
uniprot id: A5PL27
uniprot id: P00450
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the multicopper oxidase family.
messages: Binds 6 Cu cations per monomer.
messages: Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity).
messages: Ceruloplasmin levels are decreased in Wilson disease, in which copper cannot be incorporated into ceruloplasmin in liver because of defects in the copper-transporting ATPase 2.
messages: Expressed by the liver and secreted in plasma.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:C3orf80
gene id: 9606:C3orf80
uniprot id: F5H4A9
names: Subcellular Location Annotation
messages: Membrane

9606:ARHGDIA
gene id: 9606:ARHGDIA
uniprot id: J3QQX2
uniprot id: P52565
uniprot id: V9HWE8
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Rho GDI family.
messages: Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1.
messages: Cytoplasm
messages: Monomer (By similarity). Interacts with FER (PubMed:21122136). Interacts with PLXNB3 (By similarity). Forms a heterodimer with RAC1 (PubMed:23434736). Interacts with RHOA, the affinity is increased by three orders of magnitude when RHOA is prenylated (PubMed:20628200, PubMed:20400958, PubMed:26646181, PubMed:23434736). Interacts with PSMD10; the interaction increases ARHGDIA association with RHOA, leading to ARHGDIA-mediated inactivation of RHOA and ROCK and prolonged AKT activation (PubMed:20628200). Interacts with KANK2; the interaction is direct and may regulate the interaction of ARHGDIA with RHOA, RAC1 and CDC42 (PubMed:25961457). Interacts with RHOC (PubMed:20400958). Interacts with CDC42 (PubMed:23434736). Interacts with NGFR (via death domain); NGFR binding decreases the affinity for RHOA (PubMed:26646181).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:GNAS
gene id: 9606:GNAS
uniprot id: A0A0S2Z3H8
uniprot id: A0A0S2Z3S5
uniprot id: A0A590UJF0
uniprot id: A0A7I2V5R6
uniprot id: B0AZR9
uniprot id: O95467
uniprot id: P63092
uniprot id: P84996
uniprot id: Q14455
uniprot id: Q5FWY2
uniprot id: Q5JWE9
uniprot id: Q5JWF2
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Apical cell membrane
messages: Belongs to the ALEX family.
messages: Belongs to the G-alpha family. G(s) subfamily.
messages: Belongs to the NESP55 family.
messages: Binds keratan sulfate chains.
messages: Cell membrane
messages: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts through its N-terminal region with ALEX which is produced from the same locus in a different open reading frame. This interaction may inhibit its adenylyl cyclase-stimulating activity (By similarity). Interacts with MAGED2 (PubMed:27120771).
messages: Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161).
messages: Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity).
messages: Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with CRY1; the interaction may block GPCR-mediated regulation of cAMP concentrations (PubMed:20852621). Interacts with ADCY5 and stimulates its adenylyl cyclase activity (PubMed:17110384, PubMed:26206488). Interacts with ADCY6 and stimulates its adenylyl cyclase activity (PubMed:17110384). Interacts with ADCY2 (By similarity). Interaction with SASH1 (PubMed:23333244). Interacts with GAS2L2 (PubMed:23994616).
messages: Interacts with the N-terminal region of the XLas isoforms of guanine nucleotide-binding protein G(s) subunit alpha.
messages: May be proteolytically processed to give rise to a number of active peptides.
messages: May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.
messages: Secreted
messages: Shares no sequence similarity with other isoforms due to a novel first exon containing the entire reading frame spliced to shared exon 2 so that exons 2-13 make up the 3'-UTR.
messages: The GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically derived and the Nesp55 isoforms are maternally derived.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: This protein is produced by a bicistronic gene which also produces guanine nucleotide-binding protein G(s) subunit alpha from an overlapping reading frame.
messages: This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
messages: ruffle
messages: secretory vesicle

9606:ETV7
gene id: 9606:ETV7
uniprot id: Q9Y603
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ETS family.
messages: Expressed in hematopoietic tissues.
messages: Nucleus
messages: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity.

9606:ALDH2
gene id: 9606:ALDH2
uniprot id: A0A384NPN7
uniprot id: P05091
names: Disease Annotation
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the aldehyde dehydrogenase family.
messages: Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians.
messages: Homotetramer.
messages: Mitochondrion matrix
messages: Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage.
messages: The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. AMEDS patients carry ADH5 biallelic variants and homozygous or heterozygous ALDH2 variant p.Glu504Lys, affecting protein activity. Cellular and animal studies demonstrate that the simultaneous loss of ALDH2 and ADH5 activities leads to an increase of cellular formaldehyde sensitivity and multisystem abnormalities including hematopoietic failure.

9606:MCM10
gene id: 9606:MCM10
uniprot id: Q7L590
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. Additionally, plays a role in preventing DNA damage during replication. Key effector of the RBBP6 and ZBTB38-mediated regulation of DNA-replication and common fragile sites stability; acts as a direct target of transcriptional repression by ZBTB38 (PubMed:24726359).
messages: Belongs to the MCM10 family.
messages: Each zinc finger-like domain binds a zinc ion and is involved in both ssDNA and dsDNA binding, as is the OB-fold domain.
messages: Expression is cell cycle regulated. Expression increases at the G1/S-boundary. Expression decreases in late M phase, remains low during G(1) phase, and starts to accumulate at the onset of S phase.
messages: Nucleus
messages: Self-associates (By similarity). Interacts with ORC2. May interact with MCM2 and MCM6. Interacts with the DNA polymerase alpha subunit POLA1. Interacts with RECQL4; this interaction regulates RECQL4 unwinding activity. Interacts with WDHD1.
messages: The N-terminal domain mediates homodimerization.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZNF354A
gene id: 9606:ZNF354A
uniprot id: O60765
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed in kidney and inner ear.
messages: Nucleus

9606:SRPX2
gene id: 9606:SRPX2
uniprot id: O60687
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development.
messages: Cell surface
messages: Contains chondroitin sulfate chains.
messages: Cytoplasm
messages: Expressed in neurons of the rolandic area of the brain (at protein level). Highly expressed in the brain, placenta, lung, trachea, uterus, adrenal gland, heart, ovary and placenta. Weakly expressed in the peripheral blood, brain and bone marrow. Expressed in numerous cancer cell lines and in gastrointestinal cancer cells. Higher levels found in colorectal cancers than in normal colonic mucosa.
messages: Forms homooligomers (By similarity). Interacts with PLAUR (via the UPAR/Ly6 domains), ADAMTS4 and CTSB. Interacts with HGF; the interaction increases the mitogenic activity of HGF.
messages: Secreted
messages: Synapse
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:MYC
gene id: 9606:MYC
uniprot id: P01106
names: Biotechnology
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving MYC may be a cause of a form of B-cell chronic lymphocytic leukemia. Translocation t(8;12)(q24;q22) with BTG1.
messages: Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX (PubMed:9680483). Interacts with TAF1C and SPAG9. Interacts with PARP10. Interacts with KDM5A and KDM5B. Interacts (when phosphorylated at Thr-58 and Ser-62) with FBXW7(PubMed:25775507, PubMed:17558397). Interacts with PIM2. Interacts with RIOX1. The heterodimer MYC:MAX interacts with ABI1; the interaction may enhance MYC:MAX transcriptional activity. Interacts with TRIM6 (By similarity). Interacts with NPM1; the binary complex is recruited to the promoter of MYC target genes and enhances their transcription (PubMed:25956029). Interacts with CIP2A; leading to the stabilization of MYC (PubMed:17632056).
messages: Initiates from CTG codon.
messages: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes.
messages: Phosphorylated by PRKDC (PubMed:1597196). Phosphorylation at Ser-329 by PIM2 leads to the stabilization of MYC (By similarity). Phosphorylation at Ser-62 by CDK2 prevents Ras-induced senescence (PubMed:19966300, PubMed:20713526). Phosphorylated at Ser-62 by DYRK2; this primes the protein for subsequent phosphorylation by GSK3B at Thr-58 (PubMed:22307329). Phosphorylation at Thr-58 and Ser-62 by GSK3 is required for ubiquitination and degradation by the proteasome (PubMed:15103331, PubMed:17558397, PubMed:8386367). Dephosphorylation at Ser-62 by protein phosphatase 2A (PPP2CA) promotes its degradation; interaction with PPP2CA is enhanced by AMBRA1 (PubMed:25803737, PubMed:25438055).
messages: The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
messages: The gene represented in this entry is involved in disease pathogenesis. Chromosomal aberrations involving MYC are usually found in Burkitt lymphoma. Translocations t(8;14), t(8;22) or t(2;8) which juxtapose MYC to one of the heavy or light chain immunoglobulin gene loci.
messages: Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3' (PubMed:24940000, PubMed:25956029). Activates the transcription of growth-related genes (PubMed:24940000, PubMed:25956029). Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis (PubMed:24940000, PubMed:25956029). Regulator of somatic reprogramming, controls self-renewal of embryonic stem cells (By similarity). Functions with TAF6L to activate target gene expression through RNA polymerase II pause release (By similarity). Positively regulates transcription of HNRNPA1, HNRNPA2 and PTBP1 which in turn regulate splicing of pyruvate kinase PKM by binding repressively to sequences flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform (PubMed:20010808).
messages: Ubiquitinated by the SCF(FBXW7) complex when phosphorylated at Thr-58 and Ser-62, leading to its degradation by the proteasome (PubMed:15103331, PubMed:17558397, PubMed:25775507). In the nucleoplasm, ubiquitination is counteracted by USP28, which interacts with isoform 1 of FBXW7 (FBW7alpha), leading to its deubiquitination and preventing degradation (PubMed:17873522, PubMed:17558397). In the nucleolus, however, ubiquitination is not counteracted by USP28 but by USP36, due to the lack of interaction between isoform 3 of FBXW7 (FBW7gamma) and USP28, explaining the selective MYC degradation in the nucleolus (PubMed:17558397, PubMed:25775507). Also polyubiquitinated by the DCX(TRPC4AP) complex (PubMed:20551172, PubMed:29779948). Ubiquitinated by TRIM6 in a phosphorylation-independent manner (By similarity).
messages: nucleolus
messages: nucleoplasm

9606:CLDN8
gene id: 9606:CLDN8
uniprot id: A0A0K0K1I9
uniprot id: P56748
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A protein of the expected size has been detected by antibody binding and Western blot in at least one of the analyzed tissues or cells.
messages: Belongs to the claudin family.
messages: Cell membrane
messages: Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with CLDN4. Interacts with KLHL3.
messages: Expressed in the epididymis, mainly in the caput segment.
messages: Membrane
messages: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
messages: Tight-junction protein required for paracellular chloride transport in the kidney. Mediates recruitment of CLDN4 to tight junction in the kidney. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
messages: Ubiquitinated by the BCR(KLHL3) E3 ubiquitin ligase complex in the kidney, leading to its degradation.
messages: tight junction

9606:TBC1D7
gene id: 9606:TBC1D7
uniprot id: A0A024QZX0
uniprot id: A0A024R011
uniprot id: Q9P0N9
names: Caution
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the TSC-TBC complex (also named Rhebulator complex), composed of the TSC1-TSC2 heterodimer and TBC1D7. Interacts with TSC1 (via C-terminal half of the coiled-coil domain).
messages: Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.
messages: Cytoplasmic vesicle
messages: Highly expressed in heart, and slightly in kidney, liver and placenta.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Vesicle
messages: Was initially identified as a negative regulator of the TSC1-TSC2 complex (PubMed:17658474). However, it was later shown that TBC1D7 is part of the TSC-TBC complex and participates in GTPase-activating protein activity, leading to inhibition of the TOR signaling cascade (PubMed:22795129). The differences between 2 reports might be explained by experimental conditions in the initial report, in which they overexpressed the TBC1D7 subunit, possibly leading to disrupt the stoichiometric complex and its downstream functions.

9606:SERINC1
gene id: 9606:SERINC1
uniprot id: Q9NRX5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TDE1 family.
messages: Endoplasmic reticulum membrane
messages: Enhances the incorporation of serine into phosphatidylserine and sphingolipids.
messages: Interacts with SPTLC1.

9606:LAMA4
gene id: 9606:LAMA4
uniprot id: A0A0A0MQS9
uniprot id: A0A0A0MTC7
uniprot id: Q16363
uniprot id: Q5D044
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
messages: Domain G is globular.
messages: Gene LAMA4 was formerly called LAMA3.
messages: In adult, strong expression in heart, lung, ovary small and large intestines, placenta, liver; weak or no expression in skeletal muscle, kidney, pancreas, testis, prostate, brain. High expression in fetal lung and kidney. Expression in fetal and newborn tissues is observed in certain mesenchymal cells in tissues such as smooth muscle and dermis.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-4 is a subunit of laminin-8 (laminin-411), laminin-9 (laminin-421) and laminin-14 (laminin-423).
messages: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: basement membrane

9606:C4BPA
gene id: 9606:C4BPA
uniprot id: P04003
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Staphylococcus aureus protein SdrE; this interaction inhibits complement-mediated bacterial opsonization.
messages: Chylomicrons in the plasma.
messages: Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component.
messages: Disulfide-linked complex of alpha and beta chains of 3 possible sorts: a 570 kDa complex of 7 alpha chains and 1 beta chain, a 530 kDa homoheptamer of alpha chains or a 500 kDa complex of 6 alpha chains and 1 beta chain. The central body of the alpha chain homomer supports tentacles, each with the binding site for C4b at the end.
messages: It is uncertain whether Met-1 or Met-17 is the initiator.
messages: Secreted

9606:SLC7A6
gene id: 9606:SLC7A6
uniprot id: A0A024R719
uniprot id: Q92536
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Arginine transport is strongly inhibited by lysine, glutamate, leucine, glutamine, methionine and histidine, in the presence of Na(+). Also inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA). Mutual inhibition is observed when leucine or glutamine is used as substrate. Inhibition of arginine and leucine uptake also occurs when SLC3A2/4F2hc is either truncated at its C-terminus or mutated at critical residues within the terminal 15 amino acids.
messages: Basolateral cell membrane
messages: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.
messages: Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
messages: Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines.
messages: Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells.
messages: Membrane

9606:EPM2AIP1
gene id: 9606:EPM2AIP1
uniprot id: Q7L775
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Endoplasmic reticulum
messages: Expressed in heart, brain, placenta, liver, pancreas, kidney and skeletal muscle.
messages: Interacts with EPM2A.

9606:NRROS
gene id: 9606:NRROS
uniprot id: Q86YC3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the LRRC32/LRRC33 family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Interacts with TGFB1; associates via disulfide bonds with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1, leading to regulate activation of TGF-beta-1 (PubMed:29909984). Interacts (via LRR repeats) with TLR2, TLR3, TLR4, TLR9 and probably other Toll-like receptors (PubMed:23545260). Interacts with CYBB/NOX2; the interaction is direct (By similarity).
messages: Key regulator of transforming growth factor beta-1 (TGFB1) specifically required for microglia function in the nervous system (By similarity). Required for activation of latent TGF-beta-1 in macrophages and microglia: associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGFB1, and regulates integrin-dependent activation of TGF-beta-1 (By similarity). TGF-beta-1 activation mediated by LRRC33/NRROS is highly localized: there is little spreading of TGF-beta-1 activated from one microglial cell to neighboring microglia, suggesting the existence of localized and selective activation of TGF-beta-1 by LRRC33/NRROS (By similarity). Indirectly plays a role in Toll-like receptor (TLR) signaling: ability to inhibit TLR-mediated NF-kappa-B activation and cytokine production is probably a consequence of its role in TGF-beta-1 signaling (PubMed:23545260).
messages: Mainly expressed in cells of hematopoietic origin (PubMed:29909984). Highly expressed in bone marrow, thymus, liver, lung, intestine and spleen (PubMed:23545260). In the brain, highly expressed in microglia (PubMed:32100099).
messages: The protein represented in this entry is involved in disease pathogenesis.

9606:MYLK3
gene id: 9606:MYLK3
uniprot id: Q32MK0
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
messages: Cytoplasm
messages: Kinase that phosphorylates MYL2 in vitro. Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity).
messages: Phosphorylated on serine residues.
messages: Restricted to heart.

9606:SIDT2
gene id: 9606:SIDT2
uniprot id: Q8NBJ9
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SID1 family.
messages: Cell membrane
messages: Glycosylated.
messages: Interacts with adapter protein complex 1 (AP-1) and AP-2, but not AP-3 and AP-4 (By similarity). Interacts with LAMP2 (PubMed:27046251).
messages: Lysosome membrane
messages: Mediates the translocation of RNA and DNA across the lysosomal membrane during RNA and DNA autophagy (RDA), a process in which RNA or DNA is directly imported into lysosomes in an ATP-dependent manner, and degraded (PubMed:27046251, PubMed:27846365). Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis (PubMed:28277980). In vitro, mediates the uptake of linear DNA more efficiently than that of circular DNA, but exhibits similar uptake efficacy toward RNA and DNA. Binds long double-stranded RNA (dsRNA) (500 - 700 base pairs), but not dsRNA shorter than 100 bp (By similarity).

9606:CEP83
gene id: 9606:CEP83
uniprot id: Q9Y592
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CEP83 family.
messages: Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.
messages: Interacts with CEP164 and IFT20.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centriole

9606:PLIN3
gene id: 9606:PLIN3
uniprot id: A0A140VJN8
uniprot id: O60664
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the perilipin family.
messages: Cytoplasm
messages: Endosome membrane
messages: Homooligomer (PubMed:9590177). Interacts with M6PR (via the cytoplasmic domain) (PubMed:9590177). Interacts with IGF2R (via the cytoplasmic domain) (PubMed:9590177).
messages: Lipid droplet
messages: May exist as a homodimer.
messages: Phosphorylation at Tyr-251 by isoform 1 of CHKA (CHKalpha2) promotes dissociation from lipid droplets: dissociation is followed by recruitment of autophagosome machinery to lipid droplets and subsequent lipid droplet lipolysis.
messages: Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets (PubMed:34077757). Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network (PubMed:9590177).

9606:ZNF217
gene id: 9606:ZNF217
uniprot id: O75362
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at 'Ser-473'.
messages: Component of a histone deacetylase complex that contains HDAC2, KDM1A, CTBP1 and ZNF217. May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with CTBP1 and CTBP2.
messages: Nucleus

9606:TERF2
gene id: 9606:TERF2
uniprot id: Q15554
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3' single-stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo. Preferentially binds to positive supercoiled DNA. Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology-directed repair (HDR), which can affect telomere length.
messages: Contaminating sequence. The N-terminus may be contaminated with vector sequence.
messages: Homodimer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP/RAP1, ACD and POT1. Interacts with TERF2IP. Interacts with NBN. Interacts with SLX4/BTBD12. Interacts with DCLRE1B/Apollo and TERF2IP/RAP1; the interaction is direct.
messages: Methylated by PRMT1 at multiple arginines within the N-terminal Arg-rich region. Methylation may control association with telomeres.
messages: Nucleus
messages: Phosphorylated upon DNA damage, most probably by ATM. Phosphorylated TERF2 is not bound to telomeric DNA, and rapidly localizes to damage sites.
messages: The HTH domain is an independent structural unit and mediates binding to telomeric DNA.
messages: The TRFH dimerization region mediates the interaction with DCLRE1B/Apollo but not TINF2.
messages: Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes.
messages: telomere

9606:MRPS33
gene id: 9606:MRPS33
uniprot id: A4D1T3
uniprot id: Q3KRB4
uniprot id: Q9Y291
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the mitochondrion-specific ribosomal protein mS33 family.
messages: Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
messages: Mitochondrion

9606:GRIK1
gene id: 9606:GRIK1
uniprot id: B7Z256
uniprot id: B7Z3V7
uniprot id: E7ENK3
uniprot id: E7EPY9
uniprot id: E7EPZ0
uniprot id: E9PD61
uniprot id: P39086
names: Function
names: Miscellaneous
names: RNA Editing
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK1 subfamily.
messages: Cell membrane
messages: Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers (Probable). The unedited version (Q) assembles into a functional kainate-gated homomeric channel, whereas the edited version (R) is unable to produce channel activity when expressed alone. Both edited and unedited versions can form functional channels with GRIK4 and GRIK5. Interacts with KLHL17 (By similarity).
messages: Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus.
messages: Membrane
messages: Most abundant in the cerebellum and the suprachiasmatic nuclei (SCN) of the hypothalamus.
messages: Partially edited.
messages: Postsynaptic cell membrane
messages: Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system.
messages: The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate > L-glutamate = quisqualate > CNQX = DNQX > AMPA > dihydrokainate > NMDA.

9606:DUSP7
gene id: 9606:DUSP7
uniprot id: Q16829
names: Activity Regulation
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: An out-of-frame translation product, PYST2SB, has been experimentally demonstrated to be formed from the alternative promoter. The expression of the in-frame product has not yet been shown.
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
messages: Cytoplasm
messages: Dual specificity protein phosphatase (PubMed:9788880). Shows high activity towards MAPK1/ERK2 (PubMed:9788880). Also has lower activity towards MAPK14 and MAPK8 (PubMed:9788880). In arrested oocytes, plays a role in meiotic resumption (By similarity). Promotes nuclear envelope breakdown and activation of the CDK1/Cyclin-B complex in oocytes, probably by dephosphorylating and inactivating the conventional protein kinase C (cPKC) isozyme PRKCB (By similarity). May also inactivate PRKCA and/or PRKCG (By similarity). Also important in oocytes for normal chromosome alignment on the metaphase plate and progression to anaphase, where it might regulate activity of the spindle-assembly checkpoint (SAC) complex (By similarity).
messages: Interacts with MAPK1/ERK2; the interaction enhances DUSP7 phosphatase activity.
messages: Strongly expressed in liver (PubMed:8670865). Expressed at significantly higher levels in malignant hematopoietic cells than in corresponding non-malignant cells (PubMed:14576828).
messages: Strongly inhibited by sodium orthovanadate.

9606:MTRF1
gene id: 9606:MTRF1
uniprot id: A0A024RDT1
uniprot id: O75570
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the prokaryotic/mitochondrial release factor family.
messages: Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals.
messages: Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA.
messages: Mitochondrion

9606:C18orf21
gene id: 9606:C18orf21
uniprot id: A0A087X0E7
uniprot id: Q32NC0
uniprot id: W4VSQ2
names: Similarity
messages: Belongs to the UPF0711 family.

9606:FBL
gene id: 9606:FBL
uniprot id: P22087
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylated by CREBBP/CBP, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me), without affecting rRNA methylation (PubMed:30540930). Deacetylation by SIRT7 restores methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930).
messages: Belongs to the methyltransferase superfamily. Fibrillarin family.
messages: By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric dimethylarginine (DMA).
messages: Component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles that contain SNU13, FBL, NOP5 and NOP56, plus a guide RNA (PubMed:1714385, PubMed:32017898). It is associated with the U3, U8, U13, X and Y small nuclear RNAs (PubMed:1714385). Component of several ribosomal and nucleolar protein complexes. Interacts with PRMT5 and UTP20 (PubMed:14583623, PubMed:17498821). Interacts with DDX5 and C1QBP (PubMed:10837141, PubMed:21536856). Interacts with NOL11 (PubMed:22916032). Interacts with PIH1D1 (PubMed:17636026). Interacts with RRP1B (PubMed:20926688). Interacts with NOLC1 (By similarity). Interacts with SDE2 (PubMed:34365507).
messages: S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins (PubMed:24352239, PubMed:30540930, PubMed:32017898). Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA (PubMed:30540930). Site specificity is provided by a guide RNA that base pairs with the substrate (By similarity). Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA (By similarity). Probably catalyzes 2'-O-methylation of U6 snRNAs in box C/D RNP complexes (PubMed:32017898). U6 snRNA 2'-O-methylation is required for mRNA splicing fidelity (PubMed:32017898). Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239, PubMed:30540930).
messages: Ubiquitinated. Ubiquitination leads to proteasomal degradation (PubMed:19208757). Deubiquitinated by USP36 (PubMed:19208757).
messages: nucleolus
messages: nucleoplasm

9606:INSL5
gene id: 9606:INSL5
uniprot id: Q9Y5Q6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the insulin family.
messages: Heterodimer of a B chain and an A chain linked by two disulfide bonds.
messages: Highly expressed in rectum with lower levels in uterus and ascending and descending colon.
messages: May have a role in gut contractility or in thymic development and regulation. Activates RXFP4 with high potency and appears to be the endogenous ligand for this receptor.
messages: Secreted

9606:HSFY2
gene id: 9606:HSFY2
uniprot id: Q96LI6
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the HSF family.
messages: Cytoplasm
messages: Nucleus
messages: Testis-specific. Present in Sertoli cells and spermatogenic cells (at protein level).

9606:ACTRT2
gene id: 9606:ACTRT2
uniprot id: Q8TDY3
uniprot id: Q96LK1
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the actin family.
messages: cytoskeleton

9606:TSPAN17
gene id: 9606:TSPAN17
uniprot id: A0A024R7Q6
uniprot id: J3KNG2
uniprot id: Q96FV3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the tetraspanin (TM4SF) family.
messages: Interacts with ADAM10.
messages: Membrane
messages: Regulates ADAM10 maturation.

9606:TMEM41B
gene id: 9606:TMEM41B
uniprot id: Q5BJD5
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Critical host factor required for infection by human coronaviruses SARS-CoV-2, HCoV-OC43, HCoV-NL63, and HCoV-229E, as well as all flaviviruses tested such as Zika virus and Yellow fever virus (PubMed:33382968, PubMed:33338421). Required post-entry of the virus to facilitate the ER membrane remodeling necessary to form replication organelles (PubMed:33382968).
messages: (Microbial infection) Interacts with Zika virus NS4A protein and Yellow fever virus NS4B protein.
messages: (Microbial infection) VTT domain is required for flavivirus infection.
messages: Belongs to the TMEM41 family.
messages: Cytoplasm
messages: Endomembrane system
messages: Endoplasmic reticulum membrane
messages: Interacts with VMP1 (PubMed:30093494). Interacts with COPA, COPB1, VDAC1 and ERLIN2 (PubMed:30352685). Interacts with ATG2A (PubMed:33850023). Interacts with SURF4 (PubMed:34015269).
messages: Phospholipid scramblase involved in lipid homeostasis and membrane dynamics processes (PubMed:34015269, PubMed:33929485, PubMed:33850023). Has phospholipid scramblase activity toward cholesterol and phosphatidylserine, as well as phosphatidylethanolamine and phosphatidylcholine (PubMed:34015269, PubMed:33929485, PubMed:33850023). Required for autophagosome formation: participates in early stages of autophagosome biogenesis at the endoplasmic reticulum (ER) membrane by reequilibrating the leaflets of the ER as lipids are extracted by ATG2 (ATG2A or ATG2B) to mediate autophagosome assembly (PubMed:30093494, PubMed:30126924, PubMed:30933966, PubMed:34015269, PubMed:33929485, PubMed:34043740, PubMed:33850023). In addition to autophagy, involved in other processes in which phospholipid scramblase activity is required (PubMed:33850023). Required for normal motor neuron development (By similarity).
messages: The VTT domain was previously called the SNARE-assoc domain. As there is no evidence that this domain associates with SNARE proteins, it was renamed as VMP1, TMEM41, and TVP38 (VTT) domain.

9606:SLN
gene id: 9606:SLN
uniprot id: O00631
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the sarcolipin family.
messages: Endoplasmic reticulum membrane
messages: Interacts with calcium ATPase ATP2A1/SERCA1. Interact with ATP2A2; the inhibition decreases ATP2A1 Ca(2+) affinity (PubMed:28890335). Interacts with VMP1; VMP1 competes with PLN and SLN to prevent them from forming an inhibitory complex with ATP2A2 (PubMed:28890335).
messages: Reversibly inhibits the activity of ATP2A1 and ATP2A2 in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in muscle. Required for muscle-based, non-shivering thermogenesis (By similarity).
messages: Sarcoplasmic reticulum membrane

9606:SH3BP1
gene id: 9606:SH3BP1
uniprot id: Q9Y3L3
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cell projection
messages: GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration (PubMed:21658605). Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions (PubMed:22891260). Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specifically recruited by a PI3 kinase/PI3K-dependent mechanism to sites of large particles engagement, inactivates RAC1 and/or CDC42 allowing the reorganization of the underlying actin cytoskeleton required for engulfment (PubMed:26465210). It also plays a role in angiogenesis and the process of repulsive guidance as part of a semaphorin-plexin signaling pathway. Following the binding of PLXND1 to extracellular SEMA3E it dissociates from PLXND1 and inactivates RAC1, inducing the intracellular reorganization of the actin cytoskeleton and the collapse of cells (PubMed:24841563).
messages: Interacts with RAC1 (By similarity). Interacts with the exocyst via EXOC4 and EXOC8; required for the localization of both SH3BP1 and the exocyst to the leading edge of migrating cells (PubMed:21658605). Interacts with CD2AP and CGNL1; probably part of a complex at cell junctions (PubMed:22891260). Interacts with CAPZA1; recruits CAPZA1 to forming cell junctions (PubMed:22891260). May interact with AFDN (PubMed:22891260). Interacts with PLXND1; they dissociate upon SEMA3E binding to PLXND1 allowing SH3BP1 to transduce downstream signal through RAC1 inactivation (PubMed:24841563). Interacts with ABL1, GRB2 and SRC (via SH3 domain) (By similarity).
messages: Nucleus
messages: The BAR domain mediates interaction with the exocyst components EXOC4 and EXOC8 and is required for the function in cell migration (PubMed:21658605). It also mediates the interaction with PLXND1 (PubMed:24841563).
messages: adherens junction
messages: cytosol
messages: phagocytic cup
messages: tight junction

9606:PDCD2L
gene id: 9606:PDCD2L
uniprot id: Q9BRP1
names: Function
names: Tissue Specificity
messages: Higher expression in lung, colon, mammary gland, cervix, stomach and small intestine.
messages: Over-expression suppresses AP1, CREB, NFAT, and NF-kB transcriptional activation, and delays cell cycle progression at S phase.

9606:TH
gene id: 9606:TH
uniprot id: P07101
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
messages: Catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-Dopa), the rate-limiting step in the biosynthesis of cathecolamines, dopamine, noradrenaline, and adrenaline. Uses tetrahydrobiopterin and molecular oxygen to convert tyrosine to L-Dopa (PubMed:17391063, PubMed:1680128, PubMed:15287903, PubMed:8528210, Ref.18, PubMed:34922205, PubMed:24753243). In addition to tyrosine, is able to catalyze the hydroxylation of phenylalanine and tryptophan with lower specificity (By similarity). Positively regulates the regression of retinal hyaloid vessels during postnatal development (By similarity).
messages: Cytoplasm
messages: Homotetramer (Ref.18, PubMed:24947669). Interacts (when phosphorylated at Ser-19) with YWHAG; one YWHAG dimer bounds to one TH tetramer, this interaction may influence the phosphorylation and dephosphorylation of other sites (PubMed:24947669).
messages: Inhibited in feedback fashion by the catecholamine neurotransmitters, especially by dopamine in competition with tetrahydrobiopterin (PubMed:15287903). Phosphorylation of several Ser/Thr residues in the N-terminus regulates the catalytic activity (PubMed:1680128, PubMed:7901013). Ser-62 and Ser-71 are readily phosphorylated to activate the catalytic activity (PubMed:1680128, PubMed:7901013). A Cysteine modification induced by N-ethylmaleimide (NEM), inhibits tyrosine 3-monooxygenase activity through the modification of the Cys-207 (PubMed:34922205).
messages: Lacks catalytic activity.
messages: Mainly expressed in the brain and adrenal glands.
messages: May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls.
messages: Nucleus
messages: Phosphorylated on Ser-19, Ser-62 and Ser-71 by several protein kinases with different site specificities. Phosphorylation at Ser-62 and Ser-71 leads to an increase of TH activity (PubMed:7901013). Phosphorylation at Ser-71 activates the enzyme and also counteracts the feedback inhibition of TH by catecholamines (PubMed:15287903). Phosphorylation of Ser-19 and Ser-62 triggers the proteasomal degradation of TH through the ubiquitin-proteasome pathway (By similarity). Phosphorylation at Ser-62 facilitates transport of TH from the soma to the nerve terminals via the microtubule network (PubMed:28637871). Phosphorylation at Ser-19 induces the high-affinity binding to the 14-3-3 protein YWHAG; this interaction may influence the phosphorylation and dephosphorylation of other sites (PubMed:24947669). Ser-19 increases the phosphorylation at Ser-71 in a hierarchical manner, leading to increased activity (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: axon
messages: perinuclear region
messages: synaptic vesicle

9606:SLC39A5
gene id: 9606:SLC39A5
uniprot id: A0A024RB24
uniprot id: Q6ZMH5
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the ZIP transporter (TC 2.A.5) family.
messages: Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney.
messages: Glycosylated.
messages: It is uncertain whether Met-1 or Met-2 is the initiator.
messages: May play a role in polarized cells by carrying out serosal-to-mucosal zinc transport (By similarity). Seems to play a central role in controlling organismal zinc status (By similarity). Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Plays a role in eye development (PubMed:24891338).
messages: Membrane
messages: Methylated at His-375 by METTL9.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CCDC160
gene id: 9606:CCDC160
uniprot id: A6NGH7
names: Similarity
messages: Belongs to the CCDC160 family.

9606:PLA2G12B
gene id: 9606:PLA2G12B
uniprot id: Q9BX93
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the phospholipase A2 family.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Not known; does not seem to have catalytic activity.
messages: Secreted
messages: Strong expression in liver, small intestine and kidney.

9606:CNOT10
gene id: 9606:CNOT10
uniprot id: Q9H9A5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CNOT10 family.
messages: Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is not required for association of CNOT7 to the CCR4-NOT complex.
messages: Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of probably mutually exclusive catalytic subunits. CNOT10 and CNOT11 form a subcomplex docked to the CNOT1 scaffold.
messages: Cytoplasm
messages: Nucleus

9606:RSPH4A
gene id: 9606:RSPH4A
uniprot id: Q5TD94
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the flagellar radial spoke RSP4/6 family.
messages: Component of the axonemal radial spoke head which plays an important role in ciliary motility (PubMed:19200523). Essential for triplet radial spokes (RS1, RS2 and RS3) head assembly in the motile cilia (By similarity).
messages: Expressed in trachea, lungs, and testes (PubMed:23993197). Very strong expression is detected in nasal brushings (PubMed:19200523).
messages: Interacts with RSPH6A.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium
messages: cilium axoneme

9606:CRTAC1
gene id: 9606:CRTAC1
uniprot id: Q9NQ79
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in the interterritorial matrix of articular deep zone cartilage (at protein level). Isoform 1 and isoform 2 are expressed in brain. Isoform 1 is detected in lung and chondrocytes. Detected in cartilage, bone, cultured chondrocytes and lung, and at low levels in heart. Not detected in osteoblasts.
messages: O-glycosylated.
messages: Shares an exon with the neighboring tail-to-tail oriented gene GOLGA7B.
messages: Up-regulated by BMP4 (at protein level). Up-regulated in mesenchymal stem cells undergoing chondrogenic differentiation and by BMP4.
messages: extracellular matrix

9606:C1QL4
gene id: 9606:C1QL4
uniprot id: Q86Z23
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Forms homooligomers, predominantly dimers or trimers. Forms heterooligomers with C1QL1, C1QL2 and C1QL3, when proteins are coexpressed; this interaction does not occur after secretion. Interacts with ADGRB3.
messages: Highest expression levels in testis and adipose tissue, lower levels in skeletal muscle and kidney.
messages: May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By similarity).
messages: Secreted

9606:ARRDC4
gene id: 9606:ARRDC4
uniprot id: A0A024RC80
uniprot id: A8K2F6
uniprot id: Q8NCT1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the arrestin family.
messages: Cell membrane
messages: Cytoplasmic vesicle
messages: Early endosome
messages: Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (By similarity). Plays a role in endocytosis of activated G protein-coupled receptors (GPCRs) (Probable). Through an ubiquitination-dependent mechanism also plays a role in the incorporation of SLC11A2 into extracellular vesicles (By similarity). May play a role in glucose uptake (PubMed:19605364).
messages: Interacts with ADRB2 (PubMed:21982743, PubMed:23208550). Interacts (via PPxY motifs) with ITCH, NEDD4L and WWP2 (PubMed:23236378). Interacts with AVPR2. Identified in a complex containing at least ARRDC4, AVPR2 and HGS (PubMed:23236378). Interacts with SLC11A2; controls the incorporation of SLC11A2 into extracellular vesicles through an ubiquitination-dependent mechanism (By similarity).

9606:FGD1
gene id: 9606:FGD1
uniprot id: A0A024R9Y5
uniprot id: P98174
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.
messages: Cytoplasm
messages: Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.
messages: Interacts with DBNL/ABP1 and CTTN. May interact with CCPG1 (By similarity). Binds CDC42.
messages: The DH domain is involved in interaction with CCPG1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton
messages: lamellipodium
messages: ruffle

9606:PLA2G4A
gene id: 9606:PLA2G4A
uniprot id: B4DZI4
uniprot id: P47712
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by cytosolic calcium, which is necessary for binding to membrane lipids (PubMed:12672805). Activated by phosphorylation in response to mitogenic stimuli (PubMed:8381049). Activated by ceramide-1-phosphate. Binding (via C2 domain) to ceramide-1-phosphate increases the affinity for membrane lipids (PubMed:17472963). Can be activated by phosphoinositides in the absence of calcium (PubMed:12672805). Inhibited by ANXA5 in a calcium- and substrate-dependent way (PubMed:9425121).
messages: Cytoplasm
messages: Expressed in various cells and tissues such as macrophages, neutrophils, fibroblasts and lung endothelium. Expressed in platelets (at protein level) (PubMed:25102815).
messages: Golgi apparatus membrane
messages: Has primarily calcium-dependent phospholipase and lysophospholipase activities, with a major role in membrane lipid remodeling and biosynthesis of lipid mediators of the inflammatory response (PubMed:7794891, PubMed:8619991, PubMed:8702602, PubMed:9425121, PubMed:10358058, PubMed:14709560, PubMed:16617059, PubMed:17472963, PubMed:27642067, PubMed:18451993). Plays an important role in embryo implantation and parturition through its ability to trigger prostanoid production (By similarity). Preferentially hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity) (PubMed:7794891, PubMed:8619991, PubMed:9425121, PubMed:10358058, PubMed:17472963, PubMed:18451993). Selectively hydrolyzes sn-2 arachidonoyl group from membrane phospholipids, providing the precursor for eicosanoid biosynthesis via the cyclooxygenase pathway (PubMed:18451993, PubMed:7794891, PubMed:9425121, PubMed:10358058, PubMed:17472963). In an alternative pathway of eicosanoid biosynthesis, hydrolyzes sn-2 fatty acyl chain of eicosanoid lysophopholipids to release free bioactive eicosanoids (PubMed:27642067). Hydrolyzes the ester bond of the fatty acyl group attached at sn-1 position of phospholipids (phospholipase A1 activity) only if an ether linkage rather than an ester linkage is present at the sn-2 position. This hydrolysis is not stereospecific (PubMed:7794891). Has calcium-independent phospholipase A2 and lysophospholipase activities in the presence of phosphoinositides (PubMed:12672805). Has O-acyltransferase activity. Catalyzes the transfer of fatty acyl chains from phospholipids to a primary hydroxyl group of glycerol (sn-1 or sn-3), potentially contributing to monoacylglycerol synthesis (PubMed:7794891).
messages: Interacts with KAT5.
messages: Nucleus envelope
messages: Phosphorylated at both Ser-505 and Ser-727 in response to mitogenic stimuli.
messages: The N-terminal C2 domain associates with lipid membranes upon calcium binding.
messages: The N-terminal C2 domain associates with lipid membranes upon calcium binding. It modulates enzyme activity by presenting the active site to its substrate in response to elevations of cytosolic calcium (PubMed:9430701, PubMed:9665851, PubMed:11375391). In the presence of phosphoinositides, regulates phospholipase A2 and lysophospholipase activities in a calcium-independent way (PubMed:12672805).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CFAP91
gene id: 9606:CFAP91
uniprot id: Q7Z4T9
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CFAP91 family.
messages: Cytoplasm
messages: Does not interact with MYCBP.
messages: Interacts with MYCBP and AKAP1. Part of a complex containing MYCBP, AKAP1 and PRKAR2B.
messages: Involved in sperm flagellum axonemal organization and function (PubMed:12223483, PubMed:32161152). May regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).
messages: May be produced by alternative promoter usage.
messages: Mitochondrion
messages: Phosphorylated by PKA.
messages: Strongly expressed in the liver.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed, but strongly expressed in all spermatogenesis-related tissues, including the testis, the epithelium of cauda and the corpus epididymis, as well as the spermatid and mature sperm. Also expressed in Leydig cells.
messages: cilium axoneme

9606:F5
gene id: 9606:F5
uniprot id: P12259
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated protein C inactivates factor V and factor Va by proteolytic degradation.
messages: Belongs to the multicopper oxidase family.
messages: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats.
messages: Factor Va, the activated form of factor V, is composed of a heavy chain and a light chain, non-covalently bound. The interaction between the two chains is calcium-dependent. Forms heterodimer with SERPINA5.
messages: Inhibited by SERPINA5.
messages: Phosphorylated by FAM20C in the extracellular medium.
messages: Plasma.
messages: Secreted
messages: Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the N-terminus and a light chain at the C-terminus).

9606:MCTP1
gene id: 9606:MCTP1
uniprot id: Q6DN14
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the MCTP family.
messages: Binds Ca(2+) via the C2 domains in absence of phospholipids.
messages: Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity.
messages: Endoplasmic reticulum membrane
messages: Recycling endosome
messages: synaptic vesicle membrane

9606:CLCA4
gene id: 9606:CLCA4
uniprot id: Q14CN2
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Apical cell membrane
messages: Belongs to the CLCR family.
messages: Cell membrane
messages: Down-regulated in oral tongue squamous cell carcinomas.
messages: May be involved in mediating calcium-activated chloride conductance.
messages: Primarily expressed in the digestive tract, mainly in colon. Detected in smaller amounts in brain, urogenital organs, testis, and salivary and mammary glands. Highly expressed in the epithelial layer and submucosal gland of the inferior turbinate mucosa. Lower levels in the epithelial layer of nasal polyp.
messages: Secreted
messages: The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA substrates.
messages: The translation product is autoproteolytically cleaved by the metalloprotease domain in the endoplasmic reticulum into a N-terminal and a C-terminal products that remain physically associated with each other. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity.

9606:C9orf78
gene id: 9606:C9orf78
uniprot id: Q9NZ63
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TLS1 family.
messages: Component of the spliceosome (PubMed:35241646). Interacts with SNRNP200; the interaction is direct (PubMed:35241646). Interacts with PRPF8 (PubMed:35167828, PubMed:35241646).
messages: Nucleus
messages: Plays a role in pre-mRNA splicing by promoting usage of the upstream 3'-splice site at alternative NAGNAG splice sites; these are sites featuring alternative acceptor motifs separated by only a few nucleotides (PubMed:35241646). May also modulate exon inclusion events (PubMed:35241646). Plays a role in spliceosomal remodeling by displacing WBP4 from SNRNP200 and may act to inhibit SNRNP200 helicase activity (PubMed:35241646). Binds U5 snRNA (PubMed:35241646). Required for proper chromosome segregation (PubMed:35167828). Not required for splicing of shelterin components (PubMed:35167828).
messages: centromere

9606:PRRT3
gene id: 9606:PRRT3
uniprot id: Q5FWE3
names: Subcellular Location Annotation
messages: Membrane

9606:C1orf174
gene id: 9606:C1orf174
uniprot id: Q8IYL3
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the UPF0688 family.
messages: Nucleus

9606:RASGRP4
gene id: 9606:RASGRP4
uniprot id: Q8TDF6
names: Developmental Stage
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the RASGRP family.
messages: Cell membrane
messages: Cytoplasm
messages: Expressed by mast cells and their progenitors (at protein level). Specifically expressed in mononuclear leukocytes. Highly expressed in myeloid cells compared to lymphoid cells. Also detected in heart, skeletal muscle, spleen, liver, placenta and lung. Not detected in brain. Isoform 1 is the major isoform in normal individuals. Isoform 2 is more significantly expressed in a patient with asthma. Isoform 3 is more significantly expressed in a patient with asthma and a mastocytosis patient.
messages: Expressed early during development. Detected in all fetal tissues tested.
messages: Functions as a cation- and diacylglycerol (DAG)-regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP. May function in mast cells differentiation.
messages: Probably inactive.
messages: The phorbol-ester/DAG-type zinc finger mediates the binding and the functional activation by DAG.

9606:ZNF57
gene id: 9606:ZNF57
uniprot id: Q68EA5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:NBPF11
gene id: 9606:NBPF11
uniprot id: Q86T75
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the NBPF family.
messages: Cytoplasm
messages: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.
messages: Expressed in spinal cord.

9606:YAE1
gene id: 9606:YAE1
uniprot id: Q9NRH1
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Forms a complex with LTO1.
messages: Nucleus
messages: The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:26182403).

9606:VAMP1
gene id: 9606:VAMP1
uniprot id: F5GZV7
uniprot id: P23763
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type B (BoNT/B, botB) which probably hydrolyzes the 78-Gln-|-Phe-79 bond and inhibits neurotransmitter release (PubMed:22289120).
messages: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type D (BoNT/D, botD) which probably hydrolyzes the 61-Arg-|-Leu-62 bond and inhibits neurotransmitter release (PubMed:22289120). BoNT/D has low catalytic activity on this protein due to its sequence (PubMed:22289120). Note that humans are not known to be infected by C.botulinum type D.
messages: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type F (BoNT/F, botF) which probably hydrolyzes the 60-Gln-|-Lys-61 bond and inhibits neurotransmitter release (PubMed:22289120).
messages: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type X (BoNT/X) which probably hydrolyzes the 68-Arg-|-Ala-69 bond and inhibits neurotransmitter release (PubMed:29540745). It remains unknown whether BoNT/X is ever produced, or what organisms it targets.
messages: Belongs to the synaptobrevin family.
messages: Cytoplasmic vesicle membrane
messages: Interacts with VAPA and VAPB.
messages: Involved in the targeting and/or fusion of transport vesicles to their target membrane.
messages: Membrane
messages: Mitochondrion outer membrane
messages: Nervous system, skeletal muscle and adipose tissue.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. A mutation affecting a critical donor site for the splicing of VAMP1 isoforms leads to the loss of neuron-specific isoform 1 and subsequently results in haploinsufficiency (PubMed:22958904). Therefore, there would be less neurotransmitter exocytosis in specific regions of the brain, causing the symptoms of SPAX1.
messages: synaptic vesicle membrane
messages: synaptosome

9606:DHX40
gene id: 9606:DHX40
uniprot id: Q8IX18
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the DEAD box helicase family. DEAH subfamily.
messages: Probable ATP-dependent RNA helicase.
messages: Ubiquitously expressed.

9606:ZNF69
gene id: 9606:ZNF69
uniprot id: Q9UC07
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:AMY1B
gene id: 9606:AMY1B
uniprot id: P0DTE7
uniprot id: P0DTE8
uniprot id: P0DUB6
names: Caution
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glycosyl hydrolase 13 family.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Binds 1 Cl(-) ion per subunit.
messages: Calcium-binding enzyme that initiates starch digestion in the oral cavity (PubMed:12527308). Catalyzes the hydrolysis of internal (1->4)-alpha-D-glucosidic bonds, yielding a mixture of maltose, isomaltose, small amounts of glucose as well as small linear and branched oligosaccharides called dextrins (PubMed:12527308).
messages: Monomer.
messages: Secreted
messages: Three distinct genes (AMY1A, AMY1B and AMY1C), located in a gene cluster on 1p21, encode proteins sharing the same peptidic sequence.

9606:OR4F3
gene id: 9606:OR4F3
uniprot id: A0A126GV92
uniprot id: Q6IEY1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:GPR33
gene id: 9606:GPR33
uniprot id: D8VER1
uniprot id: Q49SQ1
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in spleen, lung, heart, liver, kidney, pancreas, thymus, gonads and leukocytes.
messages: In most individuals a nonsense mutation transforms the Arg-140 into a premature stop codon. Out of 1217 individuals, 1166 had a stop codon in both alleles, 50 were heterozygous and only one (in the Philippines) had Arg-140 in both alleles. GPR33 has undergone independent pseudogenization in human, chimpanzee, orangutan, siamang and rat. This selective inactivation may be due to its interaction with a putative pathogen that could use GPR33 as a receptor for cell invasion.
messages: Orphan receptor; could be a chemoattractant receptor.

9606:GLP2R
gene id: 9606:GLP2R
uniprot id: A0A384MTS7
uniprot id: B2RAN4
uniprot id: O95838
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 2 family.
messages: Cell membrane
messages: Membrane
messages: This is a receptor for glucagon-like peptide 2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.

9606:CFL1
gene id: 9606:CFL1
uniprot id: P23528
uniprot id: V9HWI5
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with human respiratory syncytial virus (HRSV) matrix protein; this interaction probably facilitates viral replication.
messages: Belongs to the actin-binding proteins ADF family.
messages: Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity (PubMed:11812157). In conjunction with the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (PubMed:15580268). Required for the centralization of the mitotic spindle and symmetric division of zygotes (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization in epithelial cells (PubMed:21834987). Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity).
messages: Can bind G- and F-actin in a 1:1 ratio of cofilin to actin (PubMed:11812157). It is a major component of intranuclear and cytoplasmic actin rods (By similarity). Interacts with the subcortical maternal complex (SCMC) via interaction with TLE6 isoform 1 and NLRP5 (By similarity). Interacts with C9orf72 (By similarity).
messages: Inactivated by phosphorylation on Ser-3. Phosphorylated on Ser-3 in resting cells (By similarity). Dephosphorylated by PDXP/chronophin; this restores its activity in promoting actin filament depolymerization. The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal (By similarity). Phosphorylated via a ARRB1-RAC1-LIMK1-PAK1 cascade upon active ligand stimulation of atypical chemokine receptor ACKR2.
messages: Nucleus matrix
messages: Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).
messages: Widely distributed in various tissues.
messages: axon
messages: cytoskeleton
messages: growth cone
messages: lamellipodium
messages: lamellipodium membrane
messages: ruffle membrane

9606:WNT16
gene id: 9606:WNT16
uniprot id: E9PH60
uniprot id: Q9UBV4
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the Wnt family.
messages: Isoform Wnt-16b is expressed in peripheral lymphoid organs such as spleen, appendix, and lymph nodes, in kidney but not in bone marrow. Isoform Wnt-16a is expressed at significant levels only in the pancreas.
messages: Ligand for members of the frizzled family of seven transmembrane receptors.
messages: Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity).
messages: Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.
messages: extracellular matrix

9606:ZNF593
gene id: 9606:ZNF593
uniprot id: O00488
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with pre-60S ribosomal particles.
messages: Belongs to the ZNF593/BUD20 C2H2-type zinc-finger protein family.
messages: Cytoplasm
messages: Involved in pre-60S ribosomal particles maturation by promoting the nuclear export of the 60S ribosome (PubMed:32669547). Negatively modulates the DNA binding activity of Oct-2 and therefore its transcriptional regulatory activity (PubMed:9115366).
messages: The protein is largely disordered, with the exception of the zinc finger domain.
messages: Ubiquitous. Detected in spleen, prostate, testis, small intestine, colon and to a minor level in thymus and peripheral blood leukocytes.
messages: nucleolus

9606:KLRC1
gene id: 9606:KLRC1
uniprot id: P26715
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) May recognize HLA-E in complex with HIV-1 gag/Capsid protein p24-derived peptide (AISPRTLNA) on infected cells and may inhibit NK cell cytotoxicity, a mechanism that allows HIV-1 to escape immune recognition.
messages: (Microbial infection) Upon SARS-CoV-2 infection, may contribute to functional exhaustion of cytotoxic NK cells and CD8-positive T cells (PubMed:32203188, PubMed:32859121). On NK cells, may recognize HLA-E in complex with SARS-CoV-2 S/Spike protein S1-derived peptide (LQPRTFLL) expressed on the surface of lung epithelial cells, inducing NK cell exhaustion and dampening antiviral immune surveillance (PubMed:32859121).
messages: (Microbial infection) Viruses like human cytomegalovirus have evolved an escape mechanism whereby virus-induced down-regulation of host MHC class I molecules is coupled to the binding of viral peptides to HLA-E, restoring HLA-E expression and inducing HLA-E-dependent NK cell immune tolerance to infected cells. Recognizes HLA-E in complex with human cytomegalovirus UL40-derived peptide (VMAPRTLIL) and inhibits NK cell cytotoxicity.
messages: Cell membrane
messages: Heterodimer with KLRD1; disulfide-linked (PubMed:18083576, PubMed:18332182, PubMed:18448674). KLRD1-KLRC1 heterodimer interacts with peptide-bound HLA-E-B2M heterotrimeric complex (PubMed:18083576). Competes with KLRC2 for its interaction with HLA-E (PubMed:18083576). Interacts (via ITIM) with INPP5D/SHIP-1 and INPPL1/SHIP-2 (via SH2 domain).
messages: Immune inhibitory receptor involved in self-nonself discrimination. In complex with KLRD1 on cytotoxic and regulatory lymphocyte subsets, recognizes non-classical major histocompatibility (MHC) class Ib molecule HLA-E loaded with self-peptides derived from the signal sequence of classical MHC class Ia molecules. Enables cytotoxic cells to monitor the expression of MHC class I molecules in healthy cells and to tolerate self (PubMed:9486650, PubMed:18083576, PubMed:9430220). Upon HLA-E-peptide binding, transmits intracellular signals through two immunoreceptor tyrosine-based inhibition motifs (ITIMs) by recruiting INPP5D/SHP-1 and INPPL1/SHP-2 tyrosine phosphatases to ITIMs, and ultimately opposing signals transmitted by activating receptors through dephosphorylation of proximal signaling molecules (PubMed:9485206, PubMed:12165520). Key inhibitory receptor on natural killer (NK) cells that regulates their activation and effector functions (PubMed:9486650, PubMed:9430220, PubMed:9485206, PubMed:30860984). Dominantly counteracts T cell receptor signaling on a subset of memory/effector CD8-positive T cells as part of an antigen-driven response to avoid autoimmunity (PubMed:12387742). On intraepithelial CD8-positive gamma-delta regulatory T cells triggers TGFB1 secretion, which in turn limits the cytotoxic programming of intraepithelial CD8-positive alpha-beta T cells, distinguishing harmless from pathogenic antigens (PubMed:18064301). In HLA-E-rich tumor microenvironment, acts as an immune inhibitory checkpoint and may contribute to progressive loss of effector functions of NK cells and tumor-specific T cells, a state known as cell exhaustion (PubMed:30503213, PubMed:30860984).
messages: Phosphorylated.
messages: Predominantly expressed in NK cells (at protein level) (PubMed:9430220, PubMed:9485206, PubMed:20952657). Expressed in intraepithelial CD8-positive T cell subsets with higher frequency in gamma-delta T cells than alpha-beta T cells (at protein level) (PubMed:18064301). Expressed in memory gamma-delta T cells (at protein level) (PubMed:20952657). Restricted to a subset of memory/effector CD8-positive alpha-beta T cells (at protein level) (PubMed:12387742). Expressed in intratumoral NK and CD8-positive T cells (PubMed:30503213). Expressed in melanoma-specific cytotoxic T cell clones (at protein level) (PubMed:9485206). KLRD1-KLRC1 and KLRD1-KLRC2 are differentially expressed in NK and T cell populations, with only minor subsets expressing both receptor complexes (at protein level) (PubMed:20952657).
messages: The cytosolic N-terminus contains two immunoreceptor tyrosine-based inhibitory motifs (ITIMs), which are essential for the association with INPP5D/SHIP-1 and INPPL1/SHIP-2 phosphatases and functional inhibition.
messages: Up-regulated in memory CD8-positive alpha-beta T cell clones upon antigen-specific stimulation.

9606:POTEH
gene id: 9606:POTEH
uniprot id: Q6S545
names: Similarity
messages: Belongs to the POTE family.

9606:NIPAL1
gene id: 9606:NIPAL1
uniprot id: Q6NVV3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity).
messages: Belongs to the NIPA family.
messages: Membrane

9606:BRCC3
gene id: 9606:BRCC3
uniprot id: P46736
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving BRCC3 is a cause of pro-lymphocytic T-cell leukemia (T-PLL). Translocation t(X;14)(q28;q11) with TCRA.
messages: Belongs to the peptidase M67A family. BRCC36 subfamily.
messages: Binds 1 zinc ion per subunit.
messages: Component of the ARISC complex, at least composed of UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:20656690, PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, babam2 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with ABRAXAS1 and babam2 (PubMed:18077395, PubMed:19261748). Component of the BRISC complex, at least composed of ABRAXAS2, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:24075985, PubMed:25283148, PubMed:26344097). Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985). In the BRISC complex, interacts directly with ABRAXAS2 (PubMed:20656690, PubMed:26344097). Identified in a complex with ABRAXAS2 and NUMA1 (PubMed:26195665). The BRISC complex interacts with the CSN complex. Component of the BRCA1/BRCA2 containing complex (BRCC), which also contains BRCA1, BRCA2, BARD1, BABAM2 and RAD51. BRCC is a ubiquitin E3 ligase complex that enhances cellular survival following DNA damage. Interacts with BRCA1. Binds polyubiquitin. Interacts with PWWP2B (By similarity). Interacts with HDAC1; this interaction is enhanced in the presence of PWWP2B (By similarity).
messages: Cytoplasm
messages: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Aberrantly expressed in the vast majority of breast tumors.
messages: Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). Does not have activity toward 'Lys-48'-linked polyubiquitin chains. Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). In the BRCA1-A complex, it specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent ubiquitination at double-strand breaks (DSBs) (PubMed:20656690). Catalytic subunit of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:20656690, PubMed:24075985, PubMed:26344097, PubMed:26195665). Mediates the specific 'Lys-63'-specific deubiquitination associated with the COP9 signalosome complex (CSN), via the interaction of the BRISC complex with the CSN complex (PubMed:19214193). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). Deubiquitinates HDAC1 and PWWP2B leading to their stabilization (By similarity).
messages: Nucleus
messages: spindle pole

9606:OR10V1
gene id: 9606:OR10V1
uniprot id: Q8NGI7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:ZP4
gene id: 9606:ZP4
uniprot id: Q12836
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ZP domain family. ZPB subfamily.
messages: Cell membrane
messages: Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP4 may act as a sperm receptor.
messages: Expressed in oocytes.
messages: Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida.
messages: The ZP domain is involved in the polymerization of the ZP proteins to form the zona pellucida.
messages: Zona pellucida

9606:RNF148
gene id: 9606:RNF148
uniprot id: Q8N7C7
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Abundantly expressed in testis and slightly in pancreas. Mainly present in the interstitial cells of testicular tissues.
messages: Membrane

9606:MAMDC4
gene id: 9606:MAMDC4
uniprot id: Q6UXC1
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
messages: Gene prediction based on similarity to rat ortholog.
messages: May be due to intron retention.
messages: Membrane
messages: Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia.

9606:DDX11
gene id: 9606:DDX11
uniprot id: Q2NKM7
uniprot id: Q96FC9
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with bovine papillomavirus type 1 regulatory protein E2; this interaction stimulates the recruitment of E2 onto mitotic chromosomes.
messages: (Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated.
messages: ATPase activity is stimulated by high magnesium salt levels (up to a 0.1 M), and potassium salts (glutamate, chloride or acetate) are more effective than the corresponding sodium salts (PubMed:10648783, PubMed:18499658). ATPase activity is enhanced by the long non-coding RNA (lncRNA) cohesion regulator noncoding RNA (CONCR) (PubMed:27477908). Double-stranded DNA helicase activity is maximal with magnesium ions at low concentrations (0.5-1 mM) whereas is markedly inhibited at higher levels (5 mM and above) (PubMed:10648783, PubMed:18499658). Double-stranded DNA helicase activity is stimulated by 25-50 mM potassium acetate, stimulated to a lesser extent by 25 mM of ammonium acetate, and markedly inhibited by sodium acetate (PubMed:18499658).
messages: Associates with the CTF18-RFC complex (PubMed:18499658). Associates with a cohesin complex composed of RAD21, SMC1 proteins and SMC3 (PubMed:17105772). Interacts with CHTF18 (PubMed:18499658). Interacts with DSCC1 (PubMed:18499658). Interacts with FEN1; this interaction is direct and increases flap endonuclease activity of FEN1 (PubMed:18499658). Interacts with PCNA (PubMed:18499658). Interacts with POLR1A and UBTF (PubMed:26089203). Interacts with RAD21, SMC1 proteins and SMC3 (PubMed:17105772). Interacts with RFC2 (PubMed:18499658). Interacts with TIMELESS; this interaction increases recruitment of both proteins onto chromatin in response to replication stress induction by hydroxyurea (PubMed:20124417, PubMed:26503245).
messages: Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily.
messages: Binds 1 [4Fe-4S] cluster.
messages: Chromosome
messages: DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability t…
messages: Expressed in melanoma cells. Not detected in epidermal melanocytes of normal skin (at protein level) (PubMed:23116066). Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine and pancreas (PubMed:9013641). Very low expression seen in brain (PubMed:9013641). Expressed in dividing cells and/or cells undergoing high levels of recombination (PubMed:9013641). No expression detected in cells signaled to terminally differentiate (PubMed:9013641). Expressed weakly in keratinocytes (PubMed:8798685).
messages: Midbody
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated by serum (at protein level) (PubMed:26089203). Up-regulated by fibroblast growth factor FGF7 (PubMed:8798685). Expressed in keratinocyte growth factor-stimulated cells but not in EGF and IL1-beta-treated keratinocytes (PubMed:8798685). Up-regulated with progression from noninvasive to invasive melanoma (PubMed:23116066).
messages: centrosome
messages: nucleolus
messages: spindle pole

9606:PEDS1
gene id: 9606:PEDS1
uniprot id: A5PLL7
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the fatty acid desaturase CarF family.
messages: Endoplasmic reticulum membrane
messages: Histidine box-1 and -2 together with other histidine residues are essential for catalytic activity.
messages: In human, PESD1 and UBE2V1 are adjacent genes which can produce independent proteins and can also be fused to form a PESD1-UBE2V1 hybrid protein.
messages: Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane (PubMed:31604315, PubMed:32209662). Plasmalogens are glycerophospholipids with a hydrocarbon chain linked by a vinyl ether bond at the glycerol sn-1 position, and are involved in antioxidative and signaling mechanisms (PubMed:31604315).

9606:UXT
gene id: 9606:UXT
uniprot id: Q9UBK9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the UXT family.
messages: Cytoplasm
messages: Homohexamer (PubMed:16221885). Component of the PAQosome complex which is responsible for the biogenesis of several protein complexes and which consists of R2TP complex members RUVBL1, RUVBL2, RPAP3 and PIH1D1, URI complex members PFDN2, PFDN6, PDRG1, UXT and URI1 as well as ASDURF, POLR2E and DNAAF10/WDR92 (PubMed:31738558). Interacts with LRPPRC (PubMed:11827465, PubMed:17554592). Interacts with androgen receptor AR (via N-terminus) (PubMed:11854421). Interacts with estrogen receptor ESR1; the interaction relocalizes ESR1 from the nucleus to the cytoplasm (PubMed:28106301). In the nucleus, interacts specifically with RELA (via RHD domain) and forms a dynamic complex with NF-kappa-B and is recruited to the NF-kappa-B enhanceosome upon stimulation (PubMed:17620405). Interacts with MECOM (PubMed:17635584). Interacts with URI1 (PubMed:21730289).
messages: Involved in gene transcription regulation (PubMed:28106301, PubMed:21730289). Acts in concert with the corepressor URI1 to regulate androgen receptor AR-mediated transcription (PubMed:11854421, PubMed:21730289). Together with URI1, associates with chromatin to the NKX3-1 promoter region (PubMed:21730289). Negatively regulates the transcriptional activity of the estrogen receptor ESR1 by inducing its translocation into the cytoplasm (PubMed:28106301). May act as nuclear chaperone that facilitates the formation of the NF-kappa-B enhanceosome and thus positively regulates NF-kappa-B transcription activity (PubMed:17620405, PubMed:21307340). Potential component of mitochondrial-associated LRPPRC, a multidomain organizer that potentially integrates mitochondria and the microtubular cytoskeleton with chromosome remodeling (PubMed:17554592). Increasing concentrations of UXT contributes to progressive aggregation of mitochondria and cell death potentially through its association with LRPPRC (PubMed:17554592). Suppresses cell transformation and it might mediate this function by interaction and inhibition of the biological activity of cell proliferation and survival stimulatory factors like MECOM (PubMed:17635584).
messages: Nucleus
messages: Part of complex I composed of TNF-alpha receptor TNFRSF1A, TRADD, TRAF2 and RIPK1 formed in response to TNF-alpha stimulation. Within the complex, interacts (via TPQE motif) with TRAF2; the interaction prevents the recruitment of FADD and CASP8/caspase 8 to complex I.
messages: Plays a role in protecting cells against TNF-alpha-induced apoptosis by preventing the recruitment of FADD and caspase 8 to the apoptotic complex I, composed of TRADD, TRAF2 and RIPK1/RIP.
messages: Ubiquitous (PubMed:10087202, PubMed:11854421, PubMed:17635584, PubMed:11827465). Expressed in prostate epithelial cells (PubMed:21730289). Expressed in mammary epithelial cells (PubMed:28106301). Highest levels in the heart, skeletal muscle, pancreas, kidney, liver, adrenal gland, peripheral blood leukocytes, lymph node, prostate, and thyroid and the lowest levels in bladder and uterus (PubMed:11854421, PubMed:17635584, PubMed:11827465). Overexpressed in a number of tumor tissues (PubMed:11854421, PubMed:16221885, PubMed:28106301).
messages: centrosome
messages: spindle pole

9606:MATN2
gene id: 9606:MATN2
uniprot id: A0A140VKH7
uniprot id: O00339
uniprot id: Q8N2G3
names: Caution
names: Function
names: Subcellular Location Annotation
messages: Involved in matrix assembly.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Secreted

9606:SOCS5
gene id: 9606:SOCS5
uniprot id: O75159
names: Domain
names: Function
names: Induction
names: PTM
names: Subunit
messages: Interacts with IL4R; inhibits IL4 signaling (By similarity). Interacts with EGFR. Interacts with ELOB and ELOC; mediates EGFR ubiquitination and degradation.
messages: Phosphorylated. Phosphorylation is induced by EGF.
messages: SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits for instance EGF signaling by mediating the degradation of the EGF receptor/EGFR. Involved in the regulation of T-helper cell differentiation by inhibiting of the IL4 signaling pathway which promotes differentiation into the Th2 phenotype. Can also partially inhibit IL6 and LIF signaling.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
messages: Up-regulated by EGF (at protein level).

9606:IL23R
gene id: 9606:IL23R
uniprot id: Q5VWK5
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis.
messages: Belongs to the type I cytokine receptor family. Type 2 subfamily.
messages: Cell membrane
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Expressed by monocytes, Th1, Th0, NK and dendritic cells. Isoform 1 is specifically expressed in NK cells.
messages: Heterodimer with IL12RB1. In presence of IL23, the heterodimer forms the IL23 receptor. Interacts with JAK2 and in presence of IL23 with STAT3.
messages: Phosphorylated in response to IL23.
messages: Produced by translation in an alternate frame of the cDNA encoding isoform 2.
messages: Produced by translation in an alternate frame of the cDNA encoding isoform 3.
messages: Produced by translation in an alternate frame of the cDNA encoding isoform 4.
messages: Produced by translation in an alternate frame of the cDNA encoding isoform 5.

9606:ITGB3BP
gene id: 9606:ITGB3BP
uniprot id: Q13352
names: Domain
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By estrogen.
messages: Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, which is essential for the association with nuclear receptors.
messages: Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, a motif known to be important for the association with nuclear receptors. Such motif, which is required for an efficient association with nuclear receptors, is however not essential.
messages: Cytoplasm
messages: Homodimer; mediated by the coiled coil domain. Isoform 3, but not other isoforms, interacts with the cytoplasmic tail of integrin ITGB3. The relevance of the interaction with ITGB3 is however uncertain, since isoform 3 is mainly nuclear. Interacts with CCNA2 and MTA1. Interacts with NFKB1 NF-kappa-B subunit. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU. Interacts with TASOR (By similarity).
messages: Nucleus
messages: The DD1 domain (also called RepD1 domain) mediates the corepressor function and is essential in the triggering of apoptosis.
messages: Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.
messages: Widely expressed. Expressed in spleen, thymus, prostate, ovary, small intestine and white blood cells. Highly expressed in testis and colon. Isoform 4 is expressed in platelets, lymphocytes and granulocytes.
messages: centromere
messages: kinetochore

9606:TAAR1
gene id: 9606:TAAR1
uniprot id: Q96RJ0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Detected in low levels in discrete regions within the central nervous system and in several peripheral tissues. Moderately expressed in stomach. Low levels in amygdala, kidney, and lung, and small intestine. Trace amounts in cerebellum, dorsal root ganglia, hippocampus, hypothalamus, liver, medulla, pancreas, pituitary, pontine reticular formation, prostate, skeletal muscle and spleen.
messages: Receptor for trace amines, including beta-phenylethylamine (b-PEA), p-tyramine (p-TYR), octopamine and tryptamine, with highest affinity for b-PEA and p-TYR. Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonin. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood. The signal transduced by this receptor is mediated by the G(s)-class of G-proteins which activate adenylate cyclase.

9606:PRPF40B
gene id: 9606:PRPF40B
uniprot id: Q6NWY9
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PRPF40 family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Expressed in the striatum and cortex of the brain (at protein level). Highly expressed in testis, fetal kidney and fetal brain. Moderately expressed in pancreas, skeletal muscle, placenta, brain and heart. Weakly expressed in colon, ileum, ovary, prostate, spleen, kidney and fetal lung.
messages: Interacts with the N-terminus of HD.
messages: May be involved in pre-mRNA splicing.
messages: Nucleus speckle

9606:APBB2
gene id: 9606:APBB2
uniprot id: Q92870
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Early endosome
messages: Endoplasmic reticulum
messages: Golgi apparatus
messages: Interacts (via C-terminus) with APP (via C-terminus) (PubMed:8855266, PubMed:14527950). Interacts with APLP2 (via cytoplasmic domain) (PubMed:8855266).
messages: Plays a role in the maintenance of lens transparency, and may also play a role in muscle cell strength (By similarity). Involved in hippocampal neurite branching and neuromuscular junction formation, as a result plays a role in spatial memory functioning (By similarity). Activates transcription of APP (PubMed:14527950).
messages: Widely expressed.

9606:FCHSD2
gene id: 9606:FCHSD2
uniprot id: O94868
names: Caution
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor (PubMed:29887380). Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling (PubMed:30249660). Recruited to clathrin-coated pits during a mid-to-late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits (PubMed:29887380). Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate (PubMed:29887380). When bound to membranes, promotes actin polymerization via its interaction with WAS and/or WASL which leads to the activation of the Arp2/3 complex. Does not promote actin polymerisation in the absence of membranes (PubMed:29887380).
messages: Cell junction
messages: Cell membrane
messages: Cytoplasm
messages: Homodimer (PubMed:29887380). Interacts (via SH3 domain 2) with ITSN1 (via SH3 domain 4). Recruited to clathrin-coated pits during a mid-to-late stage of assembly via interaction with ITSN1. Interacts (via SH3 domain 1) with WASL (PubMed:29887380). Interacts with WAS (By similarity). Interacts with CASK and MAGI1. CASK inhibits interaction with MAGI1 (PubMed:14627983).
messages: Liver, brain, heart, placenta, skeletal muscle, pancreas, lung and kidney.
messages: Phosphorylated. Phosphorylation on a Ser residue is important for recruitment to the cell membrane and for its role in promoting endocytosis.
messages: Recruited to clathrin-coated pits via SH3 domain 2.
messages: The F-BAR domain has an atypical, flat shape and binds preferentially to flat membranes. Upon heterologous expression, the isolated F-BAR domain is localized at the cell membrane, and causes the formation of cellular protrusions.
messages: The function in endocytosis may depend on the cell type. Plays a role in EGFR endocytosis via clathrin-coated pits in cancer cells, but apparently not in normal cells (PubMed:30249660). A later study used both HeLa cells and BSC1 cells (a C.aethiops kidney cell line), and did not mention any cell-type specific effects (PubMed:29887380).
messages: The two SH3 domains cooperate to maintain the protein in an autoinhibited conformation that prevents promiscuous membrane binding.
messages: clathrin-coated pit
messages: stereocilium

9606:SMIM12
gene id: 9606:SMIM12
uniprot id: L0R6D7
uniprot id: Q96EX1
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SMIM12 family.
messages: Membrane

9606:C17orf80
gene id: 9606:C17orf80
uniprot id: Q9BSJ5
names: Subcellular Location Annotation
messages: Membrane

9606:FBXL17
gene id: 9606:FBXL17
uniprot id: Q9UF56
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the FBXL17 family.
messages: Cytoplasm
messages: Nucleus
messages: Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXL17) composed of CUL1, SKP1, RBX1 and FBXL17 (PubMed:24035498). Interacts with BTB domain-containing proteins such as KLHL12, BCL6 and BACH1; specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition (PubMed:30190310). Interacts with SUFU (PubMed:27234298). Interacts with PRMT1 (By similarity).
messages: Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed:30190310). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteasome (PubMed:30190310). The ability of the SCF(FBXL17) complex to eliminate compromised BTB dimers is required for the differentiation and survival of neural crest and neuronal cells (By similarity). The SCF(FBXL17) complex mediates ubiquitination and degradation of BACH1 (PubMed:24035498, PubMed:30190310). The SCF(FBXL17) complex is also involved in the regulation of the hedgehog/smoothened (Hh) signaling pathway by mediating the ubiquitination and degradation of SUFU, allowing the release of GLI1 from SUFU for proper Hh signal transduction (PubMed:27234298). The SCF(FBXL17) complex mediates ubiquitination and degradation of PRMT1 (By similarity).

9606:KDM5D
gene id: 9606:KDM5D
uniprot id: A0A384MR42
uniprot id: Q9BY66
names: Cofactor
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the JARID1 histone demethylase family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Expression is highly down-regulated in metastatic prostate tumors.
messages: Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. May play a role in spermatogenesis. Involved in transcriptional repression of diverse metastasis-associated genes; in this function seems to cooperate with ZMYND8. Suppresses prostate cancer cell invasion. Regulates androgen receptor (AR) transcriptional activity by demethylating H3K4me3 active transcription marks.
messages: Interacts with PCGF6, MSH5, ZMYND8, AR.
messages: Involved in sensitivity to docetaxel.
messages: Nucleus
messages: The JmjC domain is required for enzymatic activity.

9606:B3GALT6
gene id: 9606:B3GALT6
uniprot id: Q96L58
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 31 family.
messages: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.
messages: Golgi stack membrane
messages: PubMed:9892646 describes the wrong protein; the cDNAs used had been switched inadvertently.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:MIEN1
gene id: 9606:MIEN1
uniprot id: Q9BRT3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Among normal tissues, present only in Leydig cells. Strongly up-regulated in breast cancers and in brain cancer distant metastasis (at protein level). Up-regulated in prostate cancer cells and in the higher grades of prostate adenocarcinoma (at protein level).
messages: Belongs to the SelWTH family.
messages: Cell membrane
messages: Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process.
messages: Interacts with GPX1.
messages: Isoprenylation facilitates association with the plasma membrane and enhances the migratory phenotype of cells by inducing increased filopodia formation.
messages: cytosol

9606:SMPD3
gene id: 9606:SMPD3
uniprot id: Q9NY59
names: Activity Regulation
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the neutral sphingomyelinase family.
messages: Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization (PubMed:10823942, PubMed:14741383, PubMed:15051724). Binds to anionic phospholipids (APLs) such as phosphatidylserine (PS) and phosphatidic acid (PA) that modulate enzymatic activity and subcellular location. May be involved in IL-1-beta-induced JNK activation in hepatocytes (By similarity). May act as a mediator in transcriptional regulation of NOS2/iNOS via the NF-kappa-B activation under inflammatory conditions (By similarity).
messages: Cell membrane
messages: Golgi apparatus membrane
messages: Inhibited by nSMase inhibitor GW4869 (PubMed:10823942). Binding of anionic phospholipids (APLs) such as phosphatidylserine (PS) and phosphatidic acid (PA) increases enzymatic activity (By similarity).
messages: Palmitoylated, palmitoylation-deficient proteins are targeted for lysosomal degradation.
messages: Predominantly expressed in brain.
messages: Up-regulated during G0/G1 phases.

9606:ASPG
gene id: 9606:ASPG
uniprot id: Q86U10
names: Function
names: Miscellaneous
names: Similarity
names: Subunit
messages: Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities (By similarity). Can catalyze three types of transacylation reactions: (1) acyl transfer from 1-acyl-sn-glycero-3-phosphocholine (1-acyl-GPC) to the sn-1(3) positions of glycerol and 2-acylglycerol (sn-1 to -1(3) transfer), (2) acyl transfer from 1-acyl-GPC to the sn-2 positions of 1-acyl-GPC, 1-acyl-sn-glycero-3-phosphoethanolamine (1-acyl-GPE), and other lysophospholipids (sn-1 to -2 transfer) and (3) acyl transfer from 2-acyl-GPC to the sn-1 position of 2-acyl-GPC and 2-acyl-GPE (sn-2 to -1 transfer) (By similarity). Mediates the synthesis of 1-arachidonoyl species of phospholipids by transferring the arachidonoyl residue from 2-arachidonoyl lysophospholipid to the sn-1 position of 2-acyl lysophospholipid (By similarity).
messages: In the N-terminal section; belongs to the asparaginase 1 family.
messages: May be due to a competing acceptor splice site.
messages: Monomer.

9606:JMJD6
gene id: 9606:JMJD6
uniprot id: Q6NYC1
names: Caution
names: Cofactor
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the JMJD6 family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Cytoplasm
messages: Dioxygenase that can both act as a arginine demethylase and a lysyl-hydroxylase (PubMed:24498420, PubMed:17947579, PubMed:20684070, PubMed:21060799, PubMed:22189873). Acts as a lysyl-hydroxylase that catalyzes 5-hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Regulates RNA splicing by mediating 5-hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65 (PubMed:19574390). Hydroxylates its own N-terminus, which is required for homooligomerization (PubMed:22189873). In addition to peptidyl-lysine 5-dioxygenase activity, may act as an RNA hydroxylase, as suggested by its ability to bind single strand RNA (PubMed:20679243, PubMed:29176719). Also acts as an arginine demethylase which preferentially demethylates asymmetric dimethylation (PubMed:17947579, PubMed:24498420, PubMed:24360279). Demethylates histone H3 at 'Arg-2' (H3R2me) and histone H4 at 'Arg-3' (H4R3me), including mono-, symmetric di- and asymmetric dimethylated forms, thereby playing a role in histone code (PubMed:17947579, PubMed:24360279). However, histone arginine demethylation may not constitute the primary activity in vivo (PubMed:17947579, PubMed:21060799, PubMed:22189873). In collaboration with BRD4, interacts with the positive transcription elongation factor b (P-TEFb) complex in its active form to regulate polymerase II promoter-proximal pause release for transcriptional activation of a large cohort of genes. On distal enhancers, so called anti-pause enhancers, demethylates both histone H4R3me2 and the methyl cap of 7SKsnRNA leading to the dismissal of the 7SKsnRNA:HEXIM1 inhibitor complex. After removal of repressive marks, the complex BRD4:JMJD6 attract and retain the P-TEFb complex on chromatin, leading to its activation, promoter-proximal polymerase II pause release, and transcriptional activation (PubMed:24360279). Demethylates other arginine methylated-proteins such as ESR1 (PubMed:24498420). Has no histone lysine deme…
messages: Highly expressed in the heart, skeletal muscle and kidney. Expressed at moderate or low level in brain, placenta, lung, liver, pancreas, spleen, thymus, prostate, testis and ovary. Up-regulated in many patients with chronic pancreatitis. Expressed in nursing thymic epithelial cells.
messages: Homooligomerizes; requires lysyl-hydroxylase activity (PubMed:22189873, PubMed:24360279). Interacts with LUC7L2, LUC7L3 and U2AF2/U2AF65 (PubMed:19574390). Interacts with LIAT1 (By similarity). Interacts with CDK9 and CCNT1; the interaction is direct with CDK9 and associates the P-TEFb complex when active (PubMed:24360279). Interacts (via JmjC and N-terminal domains) with BRD4 (via NET domain); the interaction is stronger in presence of ssRNA and recruits JMJD6 on distal enhancers (PubMed:21555454, PubMed:24360279, PubMed:29176719).
messages: Hydroxylates its own N-terminus; hydroxylation is required for homooligomerization.
messages: The nuclear localization signal motifs are necessary and sufficient to target it into the nucleus.
messages: Up-regulated upon cytokine treatment, but not upon TNF treatment.
messages: Was initially thought to constitute the phosphatidylserine receptor, a receptor that mediates recognition of phosphatidylserine, a specific marker only present at the surface of apoptotic cells. Phosphatidylserine receptor probably participates in apoptotic cell phagocytosis. This protein was identified using phage display expressing mAb 217, an antibody that specifically recognizes phosphatidylserine receptor. However, its nuclear localization and the fact that mAb 217 antibody still recognizes the phosphatidylserine receptor in mice lacking JMJD6, strongly suggest that it does not constitute the receptor for phosphatidylserine and is not involved in apoptotic cell removal.
messages: nucleolus
messages: nucleoplasm

9606:HOGA1
gene id: 9606:HOGA1
uniprot id: Q86XE5
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DapA family.
messages: Catalyzes the final step in the metabolic pathway of hydroxyproline.
messages: Homotetramer.
messages: Inhibited by divalent cations.
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:F10
gene id: 9606:F10
uniprot id: P00742
uniprot id: Q5JVE7
uniprot id: Q5JVE8
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase S1 family.
messages: Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting.
messages: Inhibited by SERPINA5 and SERPINA10.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
messages: Plasma; synthesized in the liver.
messages: Proteolytically cleaved and activated by cathepsin CTSG (PubMed:8920993). The activation peptide is cleaved by factor IXa (in the intrinsic pathway), or by factor VIIa (in the extrinsic pathway) (By similarity).
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
messages: The two chains are formed from a single-chain precursor by the excision of two Arg residues and are held together by 1 or more disulfide bonds. Forms a heterodimer with SERPINA5.
messages: The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind calcium.

9606:PHLDB3
gene id: 9606:PHLDB3
uniprot id: Q6NSJ2
names: Domain
messages: The PH domain mediates the binding to phosphoinositides.

9606:TMEM8B
gene id: 9606:TMEM8B
uniprot id: A6NDV4
names: Function
names: Induction
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TMEM8 family.
messages: Cell membrane
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Isoform 2 (via its cytoplasmic part) interacts with EZR.
messages: Isoform 2 is N-glycosylated.
messages: Isoform 2 is down-regulated in nasopharyngeal carcinoma cells.
messages: May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion.
messages: Mitochondrion
messages: Nucleus

9606:KAT2A
gene id: 9606:KAT2A
uniprot id: Q92830
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes.
messages: (Microbial infection) Interacts with and acetylates HIV-1 Tat.
messages: According to a report, has weak protein acyltransferase activity compared to protein acetyltransferase activity (PubMed:27377381). These conclusions are however not supported by subsequent studies (PubMed:29211711, PubMed:31542297).
messages: Acetylated at Lys-549, inhibiting the protein acetyltransferase activity (PubMed:23142079). Deacetylation at Lys-549 by SIRT6 promotes phosphorylation at Ser-307 and Thr-735 and subsequent activation of the protein acetyltransferase activity, leading to acetylation and inactivation of PPARGC1A (PubMed:23142079).
messages: Belongs to the acetyltransferase family. GCN5 subfamily.
messages: Chromosome
messages: Expressed in all tissues tested.
messages: Homooligomer; may form a tetramer of homodimers (PubMed:30109122). Interacts with EP300, CREBBP and ADA2. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TAF3, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, KAT2A/GCN5L2, TAF10 and TRRAP (PubMed:10373431, PubMed:10611234, PubMed:11438666). Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, KAT2A, SUPT7L, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9 (PubMed:18206972). The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22 (PubMed:18206972). Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1 (PubMed:19103755). In the complex, it probably interacts directly with KAT14, MBIP and WDR5 (PubMed:19103755). Interacts with PML (By similarity). Interacts with CEBPB (PubMed:17301242). Interacts with TACC1, TACC2 and TACC3 (PubMed:14767476). Interacts with RELA (By similarity). Interacts with NFATC2 (By similarity). Interacts with TBX5 (PubMed:29174768). Interacts with PLK4 (PubMed:27796307). Associates with the 2-oxoglutarate dehydrogenase complex (PubMed:29211711). Interacts with XPC; leading to KAT2A recruitment to promoters and subsequent acetylation of histones (PubMed:29973595, PubMed:31527837). Interacts with ERCC3/XPB; leading to KAT2A recruitment to promoters and subsequent acetylation of histones (PubMed:30894545).
messages: Loop3 is required for substrate specificity and adopts different structural conformations in succinyl-CoA-bound and acetyl-CoA-bound forms. Tyr-645 has an important role in the selective binding of succinyl-CoA over acetyl-CoA.
messages: Nucleus
messages: Protein lysine acyltransferase that can act as a acetyltransferase, glutaryltransferase or succinyltransferase, depending on the context (PubMed:29211711). Acts as a histone lysine succinyltransferase: catalyzes succinylation of histone H3 on 'Lys-79' (H3K79succ), with a maximum frequency around the transcription start sites of genes (PubMed:29211711). Succinylation of histones gives a specific tag for epigenetic transcription activation (PubMed:29211711). Association with the 2-oxoglutarate dehydrogenase complex, which provides succinyl-CoA, is required for histone succinylation (PubMed:29211711). In different complexes, functions either as an acetyltransferase (HAT) or as a succinyltransferase: in the SAGA and ATAC complexes, acts as a histone acetyltransferase (PubMed:17301242, PubMed:19103755, PubMed:29211711). Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles (PubMed:17301242, PubMed:19103755). Acetylation of histones gives a specific tag for epigenetic transcription activation (PubMed:17301242, PubMed:19103755, PubMed:29211711). Recruited by the XPC complex at promoters, where it specifically mediates acetylation of histone variant H2A.Z.1/H2A.Z, thereby promoting expression of target genes (PubMed:29973595, PubMed:31527837). Involved in long-term memory consolidation and synaptic plasticity: acts by promoting expression of a hippocampal gene expression network linked to neuroactive receptor signaling (By similarity). Acts as a positive regulator of T-cell activation: upon TCR stimulation, recruited to the IL2 promoter following interaction with NFATC2 and catalyzes acetylation of histone H3 at 'Lys-9' (H3K9ac), leading to promote IL2 expression (By similarity). Required for growth and differentiation of craniofacial cartilage and bone by regulating acetylation of histone H3 at 'Lys-9' (H3K9ac) (By similarity). Regulates embryonic stem cell (ESC) pluripotency and differentiation (By similarity). Also …
messages: centrosome

9606:PUS1
gene id: 9606:PUS1
uniprot id: E5KMT5
uniprot id: E5KMT6
uniprot id: Q9Y606
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the tRNA pseudouridine synthase TruA family.
messages: Cytoplasm
messages: Mitochondrion
messages: Monomer (PubMed:23707380, PubMed:24722331). Forms a complex with RARG and the SRA1 RNA in the nucleus (By similarity).
messages: Nucleus
messages: Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs (PubMed:15772074, PubMed:24722331). Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:24722331). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:31477916, PubMed:35051350). Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350). Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350). Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:24722331).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed (PubMed:15108122). High levels of expression found in brain and skeletal muscle (PubMed:15108122).

9606:OSBPL1A
gene id: 9606:OSBPL1A
uniprot id: B0YJ56
uniprot id: B3KU11
uniprot id: Q6GSK5
uniprot id: Q9BXW6
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the OSBP family.
messages: Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A (PubMed:16176980). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).
messages: Interacts with VAPA (By similarity). Interacts with the GTP-bound form of RAB7A (PubMed:17081983). Interacts with OAS1B (By similarity). Interacts (via FFAT motif) with MOSPD2 (via MSP domain) (PubMed:29858488).
messages: Late endosome
messages: The FFAT motif is required for interaction with MOSPD2.
messages: Unlikely isoform. Aberrant splice sites.

9606:HDGF
gene id: 9606:HDGF
uniprot id: P51858
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a transcriptional repressor (PubMed:17974029). Has mitogenic activity for fibroblasts (PubMed:11751870, PubMed:26845719). Heparin-binding protein (PubMed:15491618).
messages: Belongs to the HDGF family.
messages: Cytoplasm
messages: Does not have mitogenic activity for fibroblasts (PubMed:26845719). Does not bind heparin (PubMed:26845719).
messages: Has mitogenic activity for fibroblasts (PubMed:26845719). Heparin-binding protein (PubMed:26845719).
messages: Interacts with cytoskeletal proteins such as actin, dynein, tubulin and vimentin (PubMed:26845719).
messages: Interacts with cytoskeletal proteins such as dynein and tubulin but does not interact with actin or vimentin (PubMed:26845719).
messages: Interacts with nuclear proteins NCL and YBX1/YB1 (PubMed:26845719).
messages: Monomer, and domain-swapped homodimer (PubMed:17270212).
messages: Nucleus
messages: Phosphorylation at Ser-165 is likely to be required for secretion.
messages: Sumoylated with SUMO1. Sumoylation prevents binding to chromatin.
messages: The N-terminal region does not contain a typical signal sequence but is required for secretion (By similarity). It also determines exosomal location (PubMed:26845719).
messages: The PWWP domain harbors the heparin-binding sites and is responsible for DNA-binding, while the C-terminal region is essentially unstructured.
messages: Ubiquitous.
messages: extracellular exosome

9606:RFLNB
gene id: 9606:RFLNB
uniprot id: Q8N5W9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Refilin family.
messages: Interacts with FLNA and FLNB.
messages: Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements.
messages: cytoskeleton

9606:ATRNL1
gene id: 9606:ATRNL1
uniprot id: Q5VV63
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with MC4R.
messages: May play a role in melanocortin signaling pathways that regulate energy homeostasis.
messages: Membrane

9606:UBE2L6
gene id: 9606:UBE2L6
uniprot id: O14933
names: Function
names: Induction
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: By IFNB1/IFN-beta.
messages: Catalyzes the covalent attachment of ubiquitin or ISG15 to other proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Promotes ubiquitination and subsequent proteasomal degradation of FLT3.
messages: ISGylated.
messages: Interacts with RNF19A, RNF19B and RNF144B. Interacts with FLT3 (tyrosine phosphorylated).
messages: Present in natural killer cells (at protein level).

9606:ZNF766
gene id: 9606:ZNF766
uniprot id: Q5HY98
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:TPGS1
gene id: 9606:TPGS1
uniprot id: Q6ZTW0
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1 (Probable). Interacts with PCM1, CSTPP1 and LRRC49 (PubMed:34782749).
messages: Subunit of the tubulin polyglutamylase complex (TPGC). The complex mediates cilia and flagella polyglutamylation which is essential for their biogenesis and motility (Probable). May act in the targeting of the tubulin polyglutamylase complex. Required for the development of the spermatid flagellum (By similarity).
messages: axon
messages: centriolar satellite
messages: centrosome
messages: cilium axoneme
messages: cilium basal body
messages: dendrite
messages: flagellum axoneme
messages: flagellum basal body

9606:PPAT
gene id: 9606:PPAT
uniprot id: A8K4H7
uniprot id: Q06203
names: Cofactor
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Binds 1 Mg(2+) ion per subunit.
messages: Binds 1 [4Fe-4S] cluster per subunit.
messages: Catalyzes the formation of phosphoribosylamine from phosphoribosylpyrophosphate (PRPP) and glutamine.
messages: Homotetramer.
messages: In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
messages: Ubiquitously expressed.

9606:RHBDD3
gene id: 9606:RHBDD3
uniprot id: A0A024R1J2
uniprot id: Q9Y3P4
names: Subcellular Location Annotation
messages: Membrane

9606:BPIFB1
gene id: 9606:BPIFB1
uniprot id: Q8TDL5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
messages: Detected in duodenum mucosal crypts of cholera patients, near Paneth cells (at protein level). Detected in trachea, nasal septal epithelium and lung.
messages: May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS.
messages: Secreted

9606:NDUFA8
gene id: 9606:NDUFA8
uniprot id: B7Z768
uniprot id: P51970
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371, PubMed:32385911, PubMed:33153867). Complex I functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371).
messages: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
messages: Belongs to the complex I NDUFA8 subunit family.
messages: Complex I is composed of 45 different subunits.
messages: Contains four C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
messages: May contain intrachain disulfide bonds, as evidenced by its electrophoretic mobility under reducing vs non-reducing conditions.
messages: Mitochondrion
messages: Mitochondrion inner membrane
messages: Mitochondrion intermembrane space
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:EXOSC3
gene id: 9606:EXOSC3
uniprot id: Q9NQT5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RRP40 family.
messages: Component of the RNA exosome complex (PubMed:29906447). Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Interacts with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1 in an RNA-independent manner. Interacts with DHX36; this interaction occurs in a RNase-insensitive manner (PubMed:14731398). Interacts with HBS1L isoform 2 (PubMed:28204585).
messages: Cytoplasm
messages: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC3 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nucleolus

9606:DNAJC27
gene id: 9606:DNAJC27
uniprot id: Q9NZQ0
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. Rab family.
messages: DNAJC27/RBJ knockdown in several colorectal cancer cell lines is correlated to inhibition of MEK/ERK activation, cell proliferation, colony formation and in vivo tumor growth.
messages: GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling.
messages: Interacts directly with MAPK1 (wild-type and kinase-deficient forms). Interacts directly (in GTP-bound form) with MAP2K1 (wild-type and kinase-deficient forms).
messages: Nucleus
messages: Overexpressed in gastrointestinal cancers; expression correlates with later tumor-node-metastasis stages of colorectal cancers.

9606:ELOA
gene id: 9606:ELOA
uniprot id: Q14241
names: Caution
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: As part of a multisubunit complex composed of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5; polyubiquitinates monoubiquitinated POLR2A.
messages: Heterotrimer of an A (ELOA, ELOA2 or ELOA3P), ELOB and ELOC subunit (By similarity). Part of a multisubunit ubiquitin ligase complex consisting of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5 (PubMed:19920177). Interacts with ERCC6; the interaction is induced by DNA damaging agents or inhibitors of RNA polymerase II elongation (By similarity). Interacts (via BC-box) with CUL5 (By similarity).
messages: It is uncertain whether Met-1 or Met-27 is the initiator.
messages: Nucleus
messages: SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex).
messages: The BC-box, which mediates binding to the elongin BC complex, has the consensus sequence [APST]-L-x(3)-C-x(3)-[AILV].

9606:POLR3D
gene id: 9606:POLR3D
uniprot id: P05423
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eukaryotic RPC4/POLR3D RNA polymerase subunit family.
messages: Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity). Interacts with POLR3E/RPC5.
messages: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).
messages: Nucleus

9606:VAPB
gene id: 9606:VAPB
uniprot id: O95292
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts (via MSP domain) with hepatitis C virus (HCV) non-structural protein 5A (via disordered domain D3) (PubMed:16227268, PubMed:22720086). Interacts with HCV RNA-directed RNA polymerase (PubMed:16227268).
messages: Belongs to the VAMP-associated protein (VAP) (TC 9.B.17) family.
messages: Endoplasmic reticulum membrane
messages: Homodimer, and heterodimer with VAPA (PubMed:20940299). Interacts with VAMP1 and VAMP2 (PubMed:9920726, PubMed:20940299). Interacts (via MSP domain) with ZFYVE27 (PubMed:21976701, PubMed:19289470). Interacts with RMDN3 (PubMed:22131369). Interacts with KIF5A in a ZFYVE27-dependent manner (PubMed:21976701). Interacts with STARD3 (via FFAT motif) (PubMed:24105263). Interacts with STARD3NL (via FFAT motif) (PubMed:24105263). Interacts with CERT1 (PubMed:16895911). Interacts with PLEKHA3 and SACM1L to form a ternary complex (PubMed:30659099). Interacts with VPS13A (via FFAT motif) (PubMed:30741634).
messages: Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous. Isoform 1 predominates.

9606:ISM1
gene id: 9606:ISM1
uniprot id: B1AKI9
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as an angiogenesis inhibitor.
messages: Belongs to the isthmin family.
messages: Interacts with integrin ITGAV/ITGB5.
messages: Secreted
messages: The C-terminal AMOP domain plays an important role in the anti-angiogenic function of ISM1.

9606:CAMK4
gene id: 9606:CAMK4
uniprot id: Q16566
names: Activity Regulation
names: Developmental Stage
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by Ca(2+)/calmodulin. Binding of calmodulin results in conformational change that relieves intrasteric autoinhibition and allows phosphorylation of Thr-200 within the activation loop by CaMKK1 or CaMKK2. Phosphorylation of Thr-200 results in a 10-20-fold increase in total activity to generate Ca(2+)/calmodulin-independent activity. Autophosphorylation of the N-terminus Ser-12 and Ser-13 is required for full activation. Inactivated by protein phosphatase 2A (PPP2CA/PPP2CB) which dephosphorylates Thr-200, thereby terminating autonomous activity and helping to maintain the enzyme in its autoinhibited state.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
messages: Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK4 signaling cascade and regulates, mainly by phosphorylation, the activity of several transcription activators, such as CREB1, MEF2D, JUN and RORA, which play pivotal roles in immune response, inflammation, and memory consolidation. In the thymus, regulates the CD4(+)/CD8(+) double positive thymocytes selection threshold during T-cell ontogeny. In CD4 memory T-cells, is required to link T-cell antigen receptor (TCR) signaling to the production of IL2, IFNG and IL4 (through the regulation of CREB and MEF2). Regulates the differentiation and survival phases of osteoclasts and dendritic cells (DCs). Mediates DCs survival by linking TLR4 and the regulation of temporal expression of BCL2. Phosphorylates the transcription activator CREB1 on 'Ser-133' in hippocampal neuron nuclei and contribute to memory consolidation and long term potentiation (LTP) in the hippocampus. Can activate the MAP kinases MAPK1/ERK2, MAPK8/JNK1 and MAPK14/p38 and stimulate transcription through the phosphorylation of ELK1 and ATF2. Can also phosphorylate in vitro CREBBP, PRM2, MEF2A and STMN1/OP18.
messages: Cytoplasm
messages: Expressed during differentiation of monocyte-derived dendritic cells (at protein level).
messages: Expressed in brain, thymus, CD4 T-cells, testis and epithelial ovarian cancer tissue.
messages: Glycosylation at Ser-189 modulates the phosphorylation of CaMK4 at Thr-200 and negatively regulates its activity toward CREB1 in basal conditions and during early inomycin stimulation.
messages: Monomer (By similarity). Interacts with protein phosphatase 2A (PPP2CA/PPP2CB); the interaction is mutually exclusive with binding to Ca(2+)/calmodulin.
messages: Nucleus
messages: Phosphorylated by CaMKK1 and CaMKK2 on Thr-200. Dephosphorylated by protein phosphatase 2A. Autophosphorylated on Ser-12 and Ser-13.
messages: The autoinhibitory domain overlaps with the calmodulin binding region and interacts in the inactive folded state with the catalytic domain as a pseudosubstrate.

9606:PAPLN
gene id: 9606:PAPLN
uniprot id: O95428
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the papilin family.
messages: Partially unspliced mRNA.
messages: Secreted

9606:UTP25
gene id: 9606:UTP25
uniprot id: Q68CQ4
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the UTP25 family.
messages: Component of the ribosomal small subunit processome for the biogenesis of ribosomes, functions in pre-ribosomal RNA (pre-rRNA) processing (By similarity). Essential for embryonic development in part through the regulation of p53 pathway. Controls the expansion growth of digestive organs and liver (PubMed:25007945, PubMed:27657329, PubMed:23357851). Also involved in the sympathetic neuronal development (By similarity). Mediates, with CAPN3, the proteasome-independent degradation of p53/TP53 (PubMed:23357851, PubMed:27657329).
messages: Down-regulated by the miRNA MIR195.
messages: Expressed in colon.
messages: Interacts with CAPN3; the interaction is required for CAPN3 translocation to the nucleolus.
messages: Phosphorylated. Phosphorylation is required to promote p53/TP53 degradation in the nucleolus which promotes cell cycle progression and liver development.
messages: nucleolus

9606:SLC5A7
gene id: 9606:SLC5A7
uniprot id: B2RCU2
uniprot id: B4DUU7
uniprot id: Q2T9H3
uniprot id: Q9GZV3
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
messages: Cell membrane
messages: Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons.
messages: Homooligomerizes at cell surface (PubMed:23132865). Interacts with SEC14L1; may regulate SLC5A7 (PubMed:17092608).
messages: Membrane
messages: Phosphorylated.
messages: Specifically inhibited by nanomolar concentrations of hemicholinium 3.
messages: Synapse
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.

9606:TRIM42
gene id: 9606:TRIM42
uniprot id: Q8IWZ5
names: Similarity
messages: Belongs to the TRIM/RBCC family.

9606:SEPTIN9
gene id: 9606:SEPTIN9
uniprot id: A0A0S2Z5A5
uniprot id: Q9UHD8
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving SEPTIN9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1.
messages: Aberrant splicing.
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
messages: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.
messages: Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments, and microtubules. GTPase activity is required for filament formation. Interacts with SEPTIN2, SEPTIN6, SEPTIN7, SEPTIN11 and SEPTIN14. Interacts with RTKN and ARHGEF18. In a mesenchymal cell line, Rho/RTKN signals cause disruption of wild-type septin filaments, but not of those containing isoform 2 variants HNA Trp-106 and Phe-111. In a mesenchymal cell line, isoform 2 variants HNA Trp-106 and Phe-111, but not wild type, form filaments with SEPTIN4.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Isoforms are differentially expressed in testes, kidney, liver heart, spleen, brain, peripheral blood leukocytes, skeletal muscle and kidney. Specific isoforms appear to demonstrate tissue specificity. Isoform 5 is the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues except the brain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in approximately half of the fetal tissues.
messages: cytoskeleton

9606:GGPS1
gene id: 9606:GGPS1
uniprot id: A0A024R3R2
uniprot id: O95749
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundantly expressed in testis (PubMed:9741684, PubMed:10026212). Found in other tissues to a lower extent (PubMed:9741684, PubMed:10026212). Expressed in dermal fibroblast and skeletal muscle (PubMed:32403198).
messages: Belongs to the FPP/GGPP synthase family.
messages: Binds 3 Mg(2+) ions.
messages: Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins.
messages: Cytoplasm
messages: Homohexamer; trimer of homodimers.
messages: Subject to product inhibition by geranylgeranyl diphosphate.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Z line
messages: perinuclear region

9606:GLOD5
gene id: 9606:GLOD5
uniprot id: A6NK44
names: Caution
names: Similarity
messages: Belongs to the glyoxalase I family.
messages: It is uncertain whether Met-1 or Met-13 is the initiator.

9606:FUT2
gene id: 9606:FUT2
uniprot id: A8K2L2
uniprot id: Q10981
names: Function
names: Miscellaneous
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 11 family.
messages: Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose on both O- and N-linked glycans chains of cell surface glycoproteins and glycolipids and the resulting epitope regulates several processes such as cell-cell interaction including host-microbe interaction, cell surface expression and cell proliferation (PubMed:7876235, PubMed:8018146, PubMed:12692541). Preferentially fucosylates gangliosides GA1 and GM1 in the antrum, cecum and colon and in the female reproductive organs (By similarity). Fucosylated host glycoproteins or glycolipids mediate interaction with intestinal microbiota influencing its composition (PubMed:22068912, PubMed:21625510, PubMed:24733310). Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway (PubMed:7876235).
messages: Common polymorphisms in FUT2 define the vitamin B12 plasma level quantitative trait locus 1 (B12QTL1) [MIM:612542]. Vitamin B12 found in meat and milk products is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency.
messages: Genetic variation in FUT2 results in the non-secretor phenotype which gives rise to non-functional FUT2, resulting in a lack of the H type-1 oligosaccharide ligand in secretions, and this prevents Norwalk virus binding contributing to resistance to Norwalk virus infection.
messages: Golgi stack membrane
messages: Membrane
messages: Small intestine, colon and lung.
messages: There are two genes (FUT1 and FUT2) which encode galactoside 2-L-fucosyltransferase. They are expressed in a tissue-specific manner with expression restricted to cells of mesodermal or endodermal origin respectively.
messages: Three alleles have been identified in the Japanese population: Se1, Se2, and Sej.

9606:DRAM1
gene id: 9606:DRAM1
uniprot id: A0A024RBF9
uniprot id: Q8N682
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the DRAM/TMEM150 family.
messages: By p53/TP53 and p73/TP73. Directly activated by p53/TP53. Significantly down-regulated in tumor cell lines by methylation-dependent transcriptional silencing.
messages: Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis. Not involved in p73/TP73-mediated autophagy.
messages: Lysosome membrane
messages: Membrane

9606:TLE4
gene id: 9606:TLE4
uniprot id: Q04727
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the WD repeat Groucho/TLE family.
messages: Homooligomer and heterooligomer with other family members. Interacts with PAX5 (By similarity). Interacts with LEF1, TCF7, TCF7L1 and TCF7L2 (By similarity). Interacts with ZNF703; TLE4 may mediate ZNF703 transcriptional repression (By similarity). Interacts with SIX3 and SIX6 (By similarity). Interacts with PAX2 (PubMed:24676634). Interacts with TLE1 (By similarity).
messages: In all tissues examined, mostly in brain, and muscle.
messages: It is uncertain whether Met-1 or Met-8 is the initiator.
messages: Nucleus
messages: Phosphorylated. PAX5 binding increases phosphorylation (By similarity).
messages: Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by PAX5, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Essential for the transcriptional repressor activity of SIX3 during retina and lens development and for SIX3 transcriptional auto-repression (By similarity).
messages: Ubiquitinated by XIAP/BIRC4.
messages: WD repeat Groucho/TLE family members are characterized by 5 regions, a glutamine-rich Q domain, a glycine/proline-rich GP domain, a central CcN domain, containing a nuclear localization signal, and a serine/proline-rich SP domain. The most highly conserved are the N-terminal Q domain and the C-terminal WD-repeat domain.

9606:OR52R1
gene id: 9606:OR52R1
uniprot id: Q8NGF1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:TNF
gene id: 9606:TNF
uniprot id: P01375
uniprot id: Q5STB3
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the tumor necrosis factor family.
messages: Cell membrane
messages: Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation. Impairs regulatory T-cells (Treg) function in individuals with rheumatoid arthritis via FOXP3 dephosphorylation. Up-regulates the expression of protein phosphatase 1 (PP1), which dephosphorylates the key 'Ser-418' residue of FOXP3, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Key mediator of cell death in the anticancer action of BCG-stimulated neutrophils in combination with DIABLO/SMAC mimetic in the RT4v6 bladder cancer cell line (PubMed:22517918, PubMed:16829952, PubMed:23396208). Induces insulin resistance in adipocytes via inhibition of insulin-induced IRS1 tyrosine phosphorylation and insulin-induced glucose uptake. Induces GKAP42 protein degradation in adipocytes which is partially responsible for TNF-induced insulin resistance (By similarity). Plays a role in angiogenesis by inducing VEGF production synergistically with IL1B and IL6 (PubMed:12794819).
messages: Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation. Induces insulin resistance in adipocytes via inhibition of insulin-induced IRS1 tyrosine phosphorylation and insulin-induced glucose uptake. Induces GKAP42 protein degradation in adipocytes which is partially responsible for TNF-induced insulin resistance. Plays a role in angiogenesis by inducing VEGF production synergistically with IL1B and IL6.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Genetic variations in TNF are involved in susceptibility to malaria [MIM:611162].
messages: Genetic variations in TNF influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424].
messages: Homotrimer. Interacts with SPPL2B.
messages: Membrane
messages: O-glycosylated; glycans contain galactose, N-acetylgalactosamine and N-acetylneuraminic acid.
messages: Secreted
messages: The TNF intracellular domain (ICD) form induces IL12 production in dendritic cells.
messages: The membrane form, but not the soluble form, is phosphorylated on serine residues. Dephosphorylation of the membrane form occurs by binding to soluble TNFRSF1A/TNFR1.
messages: The soluble form derives from the membrane form by proteolytic processing. The membrane-bound form is further proteolytically processed by SPPL2A or SPPL2B through regulated intramembrane proteolysis producing TNF intracellular domains (ICD1 and ICD2) released in the cytosol and TNF C-domain 1 and C-domain 2 secreted into the extracellular space.
messages: The soluble form is demyristoylated at Lys-19 and Lys-20 by SIRT6, promoting its secretion.

9606:NPTXR
gene id: 9606:NPTXR
uniprot id: O95502
names: Cofactor
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Binds 2 calcium ions per subunit.
messages: Heteropentamer with NPTX1 and/or NPTX2. Also binds taipoxin-associated calcium-binding protein 49 (TCBP49/RCN2). Interacts with KLHL2 (By similarity).
messages: May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.
messages: Membrane
messages: Ubiquitinated by a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing KLHL2.

9606:CYHR1
gene id: 9606:CYHR1
uniprot id: P0DTL6
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ZFTRAF1 family.
messages: Cytoplasm
messages: Interacts with LGALS3.
messages: perinuclear region

9606:ZMYM1
gene id: 9606:ZMYM1
uniprot id: Q5SVZ6
names: Subcellular Location Annotation
messages: Nucleus

9606:ZNF514
gene id: 9606:ZNF514
uniprot id: Q96K75
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:MZB1
gene id: 9606:MZB1
uniprot id: Q8WU39
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a hormone-regulated adipokine/pro-inflammatory cytokine that is implicated in causing chronic inflammation, affecting cellular expansion and blunting insulin response in adipocytes. May have a role in the onset of insulin resistance.
messages: Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity). Isoform 2 may be involved in regulation of apoptosis. Helps to diversify peripheral B-cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation.
messages: Belongs to the MZB1 family.
messages: Cytoplasm
messages: Down-regulated in primary B-cells early after ligand-stimulated activation. Up-regulated in bacterial lipopolysaccharides (LPS)-stimulated peritoneal macrophages.
messages: Endoplasmic reticulum lumen
messages: Forms an interchain disulfide bond with IgM monomers.
messages: Major.
messages: Part of the ER chaperone complex, a multi-protein complex in the endoplasmic reticulum containing a large number of molecular chaperones which associates with unassembled incompletely folded immunoglobulin heavy chains (By similarity). Isoform 2 interacts with CASP2 and CASP9. Interacts with HSP90B1 and PDIA3 in a calcium-dependent manner (By similarity).
messages: Secreted
messages: Widely expressed with highest levels in adult brain, small intestine and lymphoid tissues such as thymus and spleen. Expression is frequently lower in intestinal-type gastric cancer. In obese patients, more abundant in omental than in subcutaneous fat.

9606:UGT1A6
gene id: 9606:UGT1A6
uniprot id: P19224
uniprot id: Q5DSZ8
uniprot id: Q5DT01
names: Function
names: Miscellaneous
names: Polymorphism
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the UDP-glycosyltransferase family.
messages: Endoplasmic reticulum membrane
messages: Expressed in skin. Isoforms 1 and 3 are expressed in kidney and liver. Isoform 1 but not isoform 2 is expressed in colon, esophagus and small intestine.
messages: Isoform 1 interacts with isoform 3/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 3. Isoform 1 also interacts with respective i2 isoforms of UGT1A1, UGT1A3, UGT1A4, UGT1A7, UGT1A8, UGT1A9 and UGT1A10.
messages: Membrane
messages: Microsome
messages: Polymorphisms in the UGT1A6 gene define four common haplotypes: UGT1A6*1, UGT1A6*2, UGT1A6*3 and UGT1A6*4. Liver tissue samples that were homozygous for UGT1A6*2 exhibited a high rate of glucuronidation relative to tissues with other genotypes. Biochemical kinetic studies indicate that the UGT1A6*2 allozyme, expressed homozygously, had almost two-fold greater activity toward p-nitrophenol than UGT1A6*1 and when expressed heterozygously (UGT1A6*1/*2) it is associated with low enzyme activity. Common genetic variation in UGT1A6 confers functionally significant differences in biochemical phenotype. This genetic variation might impact clinical efficacy or toxicity of drugs metabolized by UGT1A6.
messages: Probable cloning artifact.
messages: The gene is part of the UGT1A complex locus which displays alternative use of promoters, first exons and terminal exons. The locus is defined by 13 first exons, which are alternatively spliced to 3 other common exons and 2 alternative terminal exons 5. From the 27 possible mRNA isoforms, 9 produce functionally active polypeptides (UGT1A1, 1A3, 1A4, 1A5, 1A6, 1A7, 1A8, 1A9 and 1A10) called isoforms 1 (i1). Use of an alternative exon 5 (5b) as terminal exon is leading to 9 additional alternatively spliced products termed isoforms i2 and which lack transferase activity.
messages: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).

9606:GSTM1
gene id: 9606:GSTM1
uniprot id: P09488
uniprot id: X5D932
uniprot id: X5DR03
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GST superfamily. Mu family.
messages: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Involved in the formation of glutathione conjugates of both prostaglandin A2 (PGA2) and prostaglandin J2 (PGJ2) (PubMed:9084911). Participates in the formation of novel hepoxilin regioisomers (PubMed:21046276).
messages: Cytoplasm
messages: Homodimer.
messages: Liver (at protein level).
messages: There are two alleles; GSTM1A and GSTM1B which differ in position 173. The sequence shown is that of allele GSTM1A.

9606:PNPLA5
gene id: 9606:PNPLA5
uniprot id: Q7Z6Z6
names: Developmental Stage
names: Function
names: Tissue Specificity
messages: Expressed in brain and pituitary gland.
messages: Has abundant triacylglycerol lipase activity.
messages: No differential expression during adipocyte differentiation.

9606:SQSTM1
gene id: 9606:SQSTM1
uniprot id: Q13501
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Cleaved by S.pyogenes SpeB protease; leading to its degradation (PubMed:24331465). Degradation by SpeB prevents autophagy, promoting to S.pyogenes intracellular replication (PubMed:24331465).
messages: A chromosomal aberration involving SQSTM1 is found in a form of acute lymphoblastic leukemia. Translocation t(5;9)(q35;q34) with NUP214.
messages: Autophagy receptor required for selective macroautophagy (aggrephagy) (PubMed:34471133, PubMed:16286508, PubMed:20168092, PubMed:24128730, PubMed:28404643, PubMed:22622177). Functions as a bridge between polyubiquitinated cargo and autophagosomes (PubMed:34471133). Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family (PubMed:16286508, PubMed:20168092, PubMed:24128730, PubMed:28404643, PubMed:22622177). Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with WDFY3, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:24128730, PubMed:20168092). Also involved in autophagy of peroxisomes (pexophagy) in response to reactive oxygen species (ROS) by acting as a bridge between ubiquitinated PEX5 receptor and autophagosomes (PubMed:26344566). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels. Involved in endosome organization by retaining vesicles in the perinuclear cloud: following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Promotes relocalization of 'Lys-63'-linked ubiquitinated STING1 to autophagosomes (PubMed:29496741). Acts as an activator of the NFE2L2/NRF2 pathway via interaction with KEAP1: interaction inactivates the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2 and subsequent expression of cytoprotective …
messages: By proteasomal inhibitor PSI and prostaglandin J2 (PGJ2) (at protein level). By phorbol 12-myristate 13-acetate (PMA). Expression is directly activated by NFE2L2/NRF2; creating a positive feeback loop (PubMed:20452972).
messages: During myogenesis, there is a marked increase in levels in fully differentiated myotubes compared to undifferentiated myoblasts.
messages: Endoplasmic reticulum
messages: Homooligomer or heterooligomer; may form homotypic arrays. Dimerization interferes with ubiquitin binding. Interacts directly with PRKCI and PRKCZ (Probable). Forms ternary complexes with PRKCZ and KCNAB2 or PRKCZ and GABBR3. Also interacts with KCNAB1, GABRR1, GABRR2 and GABRR3. Forms an NGF-induced complex with IKBKB, PRKCI and TRAF6 (By similarity). Interacts with EBI3, LCK, RASA1, PRKCZ, PRKCI, NR2F2, NTRK1, NTRK2, NTRK3, NBR1, MAP2K5, TRIM13, TRIM55 and MAPKAPK5. Interacts with the proteasome subunits PSMD4 and PSMC2. Interacts with K63-polyubiquitinated MAPT/TAU. Interacts with IKBKB through PRKCZ and PRKCI. Interacts with NGFR through TRAF6 and bridges that complex to NTRK1. Forms a complex with MAP2K5 and PRKCZ or PRKCI. Component of a ternary complex with PAWR and PRKCZ. Upon TNF-alpha stimulation, interacts with RIPK1 probably bridging IKBKB to the TNF-R1 complex composed of TNF-R1/TNFRSF1A, TRADD and RIPK1. Forms a complex with JUB/Ajuba, PRKCZ and TRAF6. Interacts with TRAF6 (By similarity). Interacts with CYLD (PubMed:32185393). Identified in a complex with TRAF6 and CYLD (By similarity). Identified in a heterotrimeric complex with ubiquitin and ZFAND5, where ZFAND5 and SQSTM1 both interact with the same ubiquitin molecule. Directly interacts with MAP1LC3A and MAP1LC3B, as well as with other MAP1 LC3 family members, including GABARAP, GABARAPL1 and GABARAPL2; these interactions are necessary for the recruitment MAP1 LC3 family members to inclusion bodies containing polyubiquitinated protein aggregates and for their degradation by autophagy. Interacts with FHOD3. Interacts with TRMI5. Interacts with SESN1 (PubMed:23274085). Interacts with SESN2 (PubMed:23274085, PubMed:25040165). Interacts with ULK1 (PubMed:25040165). Interacts with UBD (PubMed:25422469). Interacts with WDR81; the interaction is direct and regulates the interaction of SQSTM1 with ubiquitinated proteins (PubMed:28404643). Interacts with WDFY3; this interaction is required to recruit WDFY3…
messages: In a cell model for Huntington disease (HD), appears to form a shell surrounding aggregates of mutant HTT that may protect cells from apoptosis, possibly by recruiting autophagosomal components to the polyubiquitinated protein aggregates.
messages: Late endosome
messages: Lysosome
messages: Nucleus
messages: PML body
messages: Phosphorylated. May be phosphorylated by PRKCZ (By similarity). Phosphorylated in vitro by TTN (PubMed:15802564). Phosphorylation at Ser-403 by ULK1 is stimulated by SESN2 (PubMed:25040165). Phosphorylated at Ser-403 by TBK1, leading to promote relocalization of 'Lys-63'-linked ubiquitinated STING1 to autophagosomes (PubMed:29496741). Phosphorylation at Ser-349 by MTOR promotes interaction with KEAP1 and inactivation of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and expression of phase II detoxifying enzymes (By similarity).
messages: Preautophagosomal structure
messages: The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins.
messages: The PB1 domain mediates homooligomerization and interactions with FHOD3, MAP2K5, NBR1, PRKCI, PRKCZ and WDR81. Both the PB1 and UBA domains are necessary and sufficient for the localization into the ubiquitin-containing inclusion bodies.
messages: The UBA domain binds specifically 'Lys-63'-linked polyubiquitin chains of polyubiquitinated substrates. Mediates the interaction with TRIM55. Both the UBA and PB1 domains are necessary and sufficient for the localization into the ubiquitin-containing inclusion bodies.
messages: The ZZ-type zinc finger mediates the interaction with RIPK1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by UBE2J1 and RNF26 at Lys-435: ubiquitinated SQSTM1 attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102, PubMed:33472082). Deubiquitination by USP15 releases target vesicles for fast transport into the cell periphery (PubMed:27368102). Ubiquitinated by the BCR(KEAP1) complex at Lys-420, increasing SQSTM1 sequestering activity and promoting its degradation (PubMed:28380357). Ubiquitinated via 'Lys-29' and 'Lys-33'-linked polyubiquitination leading to xenophagic targeting of bacteria and inhibition of their replication (PubMed:27880896).
messages: Ubiquitously expressed.
messages: autophagosome
messages: cytosol
messages: sarcomere

9606:TBX21
gene id: 9606:TBX21
uniprot id: Q9UL17
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Interacts with RUNX1, RUNX3, ITK, ABL1, RELA, CDK9 and KDM6B. The phosphorylated form (at Thr-303) interacts with NFATC2. Interacts with SMARCA4 in a KDM6B-dependent manner (By similarity). Interacts with CCTN1 (PubMed:27292648). Interacts with USP10 (PubMed:24845384). The phosphorylated form (at Tyr-530) interacts with GATA3 (PubMed:15662016).
messages: Lineage-defining transcription factor which initiates Th1 lineage development from naive Th precursor cells both by activating Th1 genetic programs and by repressing the opposing Th2 and Th17 genetic programs (PubMed:10761931). Activates transcription of a set of genes important for Th1 cell function, including those encoding IFN-gamma and the chemokine receptor CXCR3. Induces permissive chromatin accessibilty and CpG methylation in IFNG (PubMed:33296702). Activates IFNG and CXCR3 genes in part by recruiting chromatin remodeling complexes including KDM6B, a SMARCA4-containing SWI/SNF-complex, and an H3K4me2-methyltransferase complex to their promoters and all of these complexes serve to establish a more permissive chromatin state conducive with transcriptional activation (By similarity). Can activate Th1 genes also via recruitment of Mediator complex and P-TEFb (composed of CDK9 and CCNT1/cyclin-T1) in the form of the super elongation complex (SEC) to super-enhancers and associated genes in activated Th1 cells (PubMed:27292648). Inhibits the Th17 cell lineage commitment by blocking RUNX1-mediated transactivation of Th17 cell-specific transcriptinal regulator RORC. Inhibits the Th2 cell lineage commitment by suppressing the production of Th2 cytokines, such as IL-4, IL-5, and IL- 13, via repression of transcriptional regulators GATA3 and NFATC2. Protects Th1 cells from amplifying aberrant type-I IFN response in an IFN-gamma abundant microenvironment by acting as a repressor of type-I IFN transcription factors and type-I IFN-stimulated genes. Acts as a regulator of antiviral B-cell responses; controls chronic viral infection by promoting the antiviral antibody IgG2a isotype switching and via regulation of a broad antiviral gene expression program (By similarity). Required for the correct development of natural killer (NK) and mucosal-associated invariant T (MAIT) cells (PubMed:33296702).
messages: Nucleus
messages: Phosphorylations at Ser-53, Tyr-77, Ser-225 and Ser-513 are regulated by mTORC1. Phosphorylation at Tyr-530 is essential for its interaction GATA3. Phosphorylation at Tyr-220, Tyr-266 and Tyr-305 enhances its transcriptional activator activity. Phosphorylation at Thr-303 is required for its interaction with NFATC2.
messages: T-cell specific.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated at Lys-314, leading to its degradation by the proteasome. Ubiquitination is essential for controlling protein stability, binding to the T-box-binding element of the IFN-gamma promoter, and for interaction with NFATC2 through induction of phosphorylation at Thr-303 (By similarity). Deubiquitinated by USP10 leading to its stabilization (PubMed:24845384).

9606:B4GALNT2
gene id: 9606:B4GALNT2
uniprot id: Q8NHY0
names: Disease Annotation
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 2 family.
messages: Golgi apparatus membrane
messages: Involved in the synthesis of the Sd(a) antigen (Sia-alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain.
messages: The Sd(a) antigen on red blood cells defines the SID blood group system. There is considerable variability in the strength of antigen expression, ranging from ordinary Sd(a+) to strong Sd(a++) expression [MIM:615018]. Lack of Sd(a) antigen results in the Sd(a-) phenotype, due to genetic variants in B4GALNT2.
messages: The gene represented in this entry is involved in disease pathogenesis.
messages: Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum.

9606:OSBPL6
gene id: 9606:OSBPL6
uniprot id: Q9BZF3
names: Developmental Stage
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the OSBP family.
messages: By acetylated low-density lipoprotein.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Endosome membrane
messages: Expressed in brain and striated muscle (at protein level) (PubMed:14593528). Widely expressed (PubMed:11735225). Expressed in skeletal muscle (PubMed:14593528).
messages: Expressed in fetal brain and lung.
messages: Homodimer (By similarity). Interacts with OSBPL3 (By similarity).
messages: Nucleus envelope
messages: Regulates cellular transport and efflux of cholesterol (PubMed:26941018). Plays a role in phosphatidylinositol-4-phophate (PI4P) turnover at the neuronal membrane (By similarity). Binds via its PH domain PI4P, phosphatidylinositol-4,5-diphosphate, phosphatidylinositol-3,4,5-triphosphate, and phosphatidic acid (By similarity). Weakly binds 25-hydroxycholesterol (PubMed:17428193).
messages: cytosol

9606:GLE1
gene id: 9606:GLE1
uniprot id: A0A804HJ70
uniprot id: B3KMG0
uniprot id: Q53GS7
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associated with the NPC, however it may not be a stable component of the NPC complex since it shuttles between the nucleus and the cytoplasm. Interacts with nuclear pore complex proteins NUP155 and NUP42. Isoform 2 does not interact with NUP42. Able to form a heterotrimer with NUP155 and NUP42 in vitro.
messages: Belongs to the GLE1 family.
messages: Cytoplasm
messages: Major isoform.
messages: Nucleus
messages: Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nuclear pore complex

9606:SLC6A19
gene id: 9606:SLC6A19
uniprot id: Q695T7
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily.
messages: Cell membrane
messages: Interacts in a tissue-specific manner with ACE2 in small intestine and with CLTRN in the kidney (By similarity). Interacts with CLTRN; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in kidneys (By similarity). Interacts with ACE2; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in intestine (PubMed:32132184). Interacts with ANPEP; the interaction positively regulates its amino acid transporter activity (By similarity).
messages: Robust expression in kidney and small intestine, with minimal expression in pancreas (PubMed:18424768, PubMed:15286787). Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.
messages: The disease may be caused by variants affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
messages: Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:15286787, PubMed:15286788, PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:15286787, PubMed:19185582, PubMed:15286788). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).

9606:NOL4
gene id: 9606:NOL4
uniprot id: O94818
names: Sequence Caution
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Expressed predominantly in fetal brain, adult brain and testis.
messages: nucleolus

9606:SPI1
gene id: 9606:SPI1
uniprot id: P17947
names: Activity Regulation
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ETS family.
messages: Binds DNA as a monomer. Can form homomers (PubMed:10196196). Directly interacts with CEBPD/NF-IL6-beta; this interaction does not affect DNA-binding properties of each partner (By similarity). Interacts with NONO/p54(nrb) (By similarity). Interacts with RUNX1/AML1 (PubMed:10207087). Interacts with GFI1; the interaction represses SPI1 transcriptional activity, hence blocks SPI1-induced macrophage differentiation of myeloid progenitor cells (PubMed:17197705). Interacts with CEBPE (PubMed:26019275). Interacts with IRF4/Pip and IRF8 (PubMed:10196196, PubMed:33951726). Interacts with JUN (PubMed:10196196). Interacts with RB1 (PubMed:10196196). Interacts with TBP (PubMed:10196196).
messages: Highly expressed in both FV-P and FV-A-induced erythro-leukemia cell lines that have undergone rearrangements of the SPI1 gene due to the insertion of SFFV. Negatively regulated by microRNA-155 (miR-155) (PubMed:23166356).
messages: In the bone marrow, concentrated in hematopoietic stem cell, lymphoid progenitor, myeloid lineage (granulocyte macrophage progenitors, classical dendritic cells, monocytes) and B-cell clusters. Among B-cells, predominantly expressed in pre-B1 cells (PubMed:33951726). Expressed in germinal center B-cells (PubMed:23166356).
messages: Nucleus
messages: Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control gene expression by binding genetic regulatory elements and can also more broadly influence transcription by recruiting transcription factors, such as interferon regulatory factors (IRFs), to otherwise inaccessible genomic regions (PubMed:23658224, PubMed:33951726). Transcriptionally activates genes important for myeloid and lymphoid lineages, such as CSF1R (By similarity). Transcriptional activation from certain promoters, possibly containing low affinity binding sites, is achieved cooperatively with other transcription factors. FCER1A transactivation is achieved in cooperation with GATA1 (By similarity). May be particularly important for the pro- to pre-B cell transition (PubMed:33951726). Binds (via the ETS domain) onto the purine-rich DNA core sequence 5'-GAGGAA-3', also known as the PU-box (PubMed:33951726). In vitro can bind RNA and interfere with pre-mRNA splicing (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional activity at macrophage-specific genes is inhibited by interaction with GFI1, which results in the inhibition of SPI1-induced macrophage differentiation of myeloid progenitor cells, but not that of the granulocyte lineage.

9606:TMEM125
gene id: 9606:TMEM125
uniprot id: Q96AQ2
names: Subcellular Location Annotation
messages: Membrane

9606:UPP1
gene id: 9606:UPP1
uniprot id: B4DND0
uniprot id: Q16831
uniprot id: Q86Y75
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subunit
messages: Belongs to the PNP/UDP phosphorylase family.
messages: By vitamin D3 and a mixture of inflammatory cytokines: TNF, IL1/interleukin-1 and IFNG/IFN-gamma.
messages: Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate (PubMed:7488099). The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.
messages: Homodimer.
messages: Inactive.

9606:H1-5
gene id: 9606:H1-5
uniprot id: P16401
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the histone H1/H5 family.
messages: Chromosome
messages: Citrullination at Arg-57 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance.
messages: H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter (By similarity). Phosphorylated at Thr-11 by GSK3B during mitosis in prometaphase and dephosphorylated in telophase.
messages: Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).
messages: Nucleus
messages: The C-terminal domain is required for high-affinity binding to chromatin.
messages: Ubiquitous. Expressed in the majority of the cell lines tested and in testis.

9606:KLHL29
gene id: 9606:KLHL29
uniprot id: Q96CT2
names: Caution
names: Sequence Caution
messages: Although the complete sequence is not known with certainty, sequence shown here appears to be the most probable in accordance with the mouse sequence ortholog.
messages: Intron retention.

9606:ZNF212
gene id: 9606:ZNF212
uniprot id: A0A090N8N3
uniprot id: Q9UDV6
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus
messages: The sequence shown here is derived from an EMBL/GenBank/DDBJ whole genome shotgun (WGS) entry which is preliminary data.

9606:F13A1
gene id: 9606:F13A1
uniprot id: P00488
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the transglutaminase superfamily. Transglutaminase family.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Cytoplasm
messages: Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin.
messages: Secreted
messages: Tetramer of two A chains (F13A1) and two B (F13B) chains.
messages: The activation peptide is released by thrombin.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: There are four main allelic forms of this protein; F13A*1A, F13A*1B, F13A*2A and F13A*2B. In addition two other intermediate forms (F13A*(2)A and F13A*(2)B) seem to exist. The sequence shown is that of F13A*1B.

9606:PPP2R1B
gene id: 9606:PPP2R1B
uniprot id: P30154
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subunit
messages: Belongs to the phosphatase 2A regulatory subunit A family.
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Each HEAT repeat appears to consist of two alpha helices joined by a hydrophilic region, the intrarepeat loop. The repeat units may be arranged laterally to form a rod-like structure.
messages: PP2A consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Interacts with IPO9. Interacts with SGO1. Interacts with RAF1.
messages: The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit.

9606:EMP3
gene id: 9606:EMP3
uniprot id: A0A024QZF8
uniprot id: P54852
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the PMP-22/EMP/MP20 family.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Probably involved in cell proliferation and cell-cell interactions.

9606:NUDT3
gene id: 9606:NUDT3
uniprot id: O95989
names: Activity Regulation
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Nudix hydrolase family. DIPP subfamily.
messages: Binds 3 Mg(2+) ions per subunit.
messages: Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction (PubMed:10419486, PubMed:12370170, PubMed:9822604, PubMed:10585413). InsP6 (inositol hexakisphosphate) is not a substrate (PubMed:9822604). Acts as a negative regulator of the ERK1/2 pathway (By similarity). Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with diadenosine 5',5'''-P1,P6-hexaphosphate (Ap6A) and diadenosine 5',5'''- P1,P5-pentaphosphate (Ap5A) being the preferred substrates (PubMed:12370170). The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A (PubMed:12370170). Also able to hydrolyze 5-phosphoribose 1-diphosphate (PubMed:12370170). Acts as a decapping enzyme that modulates the stability of a subset of mRNAs implicated in cell motility (PubMed:26932476).
messages: Cytoplasm
messages: Inhibited by fluoride and InsP6.
messages: Monomer.
messages: Widely expressed. Expressed at higher level in brain, heart, pancreas and liver. Also expressed in placenta, lung and kidney.

9606:SEPTIN12
gene id: 9606:SEPTIN12
uniprot id: A0A140VJU2
uniprot id: Q8IYM1
names: Developmental Stage
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: At the first step of spermiogenesis concentrated around the acrosome. Afterwards expressed between the edge of the acrosome and the perinuclear mantle of the manchette. Next, encircles the upper site of the acrosome and forms the rim of the sperm nucleus. With the formation of mitochondria and mature spermatozoa, localized at the neck and annulus regions.
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
messages: Cytoplasm
messages: Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Forms a filamentous structure with SEPTIN7, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in cytokinesis (Potential).
messages: Nucleus
messages: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By similarity). Interacts with SEPTIN6 and SEPTIN11. Self-associates. Component of a septin core octomeric complex consisting of SEPTIN12, SEPTIN7, SEPTIN6 and SEPTIN2 or SEPTIN4 in the order 12-7-6-2-2-6-7-12 or 12-7-6-4-4-6-7-12 and located in the sperm annulus; the octomer polymerizes into filaments via the SEPTIN12 N- and C-termini; the SEPTIN12:SEPTIN7 association is mediated by the respective GTP-binding domains (PubMed:25588830). Interacts with SPAG4 and LMNB1 (PubMed:25775403). Associates with alpha- and beta-tubulins (PubMed:24213608).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Expressed in lymph node.
messages: cytoskeleton
messages: flagellum
messages: spindle

9606:ISY1
gene id: 9606:ISY1
uniprot id: Q9ULR0
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Based on a readthrough transcript which may produce a ISY1-RAB43 fusion protein.
messages: Belongs to the ISY1 family.
messages: Component of the spliceosome C complex required for the selective processing of microRNAs during embryonic stem cell differentiation (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity). Required during the transition of embryonic stem cells (ESCs) from the naive to primed state (By similarity). By enhancing miRNA biogenesis, promotes exit of ESCs from the naive state to an intermediate state of poised pluripotency, which precedes transition to the primed state (By similarity). Involved in pre-mRNA splicing as component of the spliceosome.
messages: Identified in the spliceosome C complex (PubMed:11991638, PubMed:29301961). Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE (PubMed:17981804). Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex (PubMed:25599396). The IB complex does not contain PRPF19 (PubMed:25599396). Interacts with CPSF3; this interaction is in an RNA independent manner (By similarity). Interacts with the microprocessor complex subunits DGCR8 and DROSHA; this interaction is in an RNA dependent manner (By similarity).
messages: Nucleus

9606:NYNRIN
gene id: 9606:NYNRIN
uniprot id: Q9P2P1
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
messages: Contaminating sequence. Potential poly-A sequence.
messages: Membrane
messages: The gene encoding this protein may have arisen from the fusion of a cellular gene with retroviral sequences prior to the marsupial-eutherian split. Sequence and structural analyses suggest that the integrase catalytic domain is inactive.

9606:FRMD4B
gene id: 9606:FRMD4B
uniprot id: Q9Y2L6
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with CYTH3 (By similarity). Interacts with PARD3 (By similarity). Interacts with CYTH1 (By similarity).
messages: Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization.
messages: adherens junction
messages: cytoskeleton
messages: tight junction

9606:SYT5
gene id: 9606:SYT5
uniprot id: O00445
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the synaptotagmin family.
messages: Binds 3 Ca(2+) ions per subunit. The ions are bound to the C2 domains.
messages: Homodimer (By similarity). Interacts with both alpha- and beta-tubulin (By similarity).
messages: May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Regulates the Ca(2+)-dependent secretion of norepinephrine in PC12 cells. Required for export from the endocytic recycling compartment to the cell surface (By similarity).
messages: Recycling endosome membrane
messages: synaptic vesicle membrane

9606:NPHP3
gene id: 9606:NPHP3
uniprot id: Q7Z494
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with NPHP1 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium. Interacts with CEP164. Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme.
messages: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.
messages: cilium

9606:RRAS2
gene id: 9606:RRAS2
uniprot id: P62070
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. Ras family.
messages: Cell membrane
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Fatty-acylation at Lys-192, Lys-194; lys-196 and Lys-197 is required for localization to the plasma membrane and activity (PubMed:28406396). Defatty-acylated by SIRT6, affecting its localization to the plasma membrane (PubMed:28406396).
messages: GTP-binding protein with GTPase activity involved in the regulation of MAPK signaling pathway, thereby controlling multiple cellular processes (PubMed:31130282). Involved in the regulation of MAPK signaling pathway (PubMed:31130282, PubMed:31130285). Regulation of craniofacial development (PubMed:31130282, PubMed:31130285).
messages: Golgi apparatus membrane
messages: Interacts with RASSF5.
messages: May be post-translationally modified by both palmitoylation and polyisoprenylation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously present in all tissues examined, with the highest levels in heart, placenta, and skeletal muscle. Moderate levels in lung and liver; low levels in brain, kidney, and pancreas.

9606:OR4X2
gene id: 9606:OR4X2
uniprot id: A0A126GVL5
uniprot id: Q8NGF9
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
messages: A stop codon in the gene coding for this protein at position Tyr-27 is responsible for functional diversity thus producing a pseudogene.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:MTR
gene id: 9606:MTR
uniprot id: A0A6Q8PGK3
uniprot id: Q99707
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the vitamin-B12 dependent methionine synthase family.
messages: Binds 1 zinc ion per subunit.
messages: Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol (PubMed:16769880, PubMed:27771510, PubMed:17288554). MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis. Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate (PubMed:16769880, PubMed:27771510, PubMed:17288554). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:16769880, PubMed:27771510).
messages: Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol. MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis. Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate. The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Modular enzyme with four functionally distinct domains. The isolated Hcy-binding domain catalyzes methyl transfer from free methylcobalamin to homocysteine. The Hcy-binding domain in association with the pterin-binding domain catalyzes the methylation of cob(I)alamin by methyltetrahydrofolate and the methylation of homocysteine. The B12-binding domain binds the cofactor. The AdoMet activation domain binds S-adenosyl-L-methionine. Under aerobic conditions cob(I)alamin can be converted to inactive cob(II)alamin. Reductive methylation by S-adenosyl-L-methionine and flavodoxin regenerates methylcobalamin (By similarity).
messages: Modular enzyme with four functionally distinct domains. The isolated Hcy-binding domain catalyzes methyl transfer from free methylcobalamin to homocysteine. The Hcy-binding domain in association with the pterin-binding domain catalyzes the methylation of cob(I)alamin by methyltetrahydrofolate and the methylation of homocysteine. The B12-binding domain binds the cofactor. The AdoMet activation domain binds S-adenosyl-L-methionine. Under aerobic conditions cob(I)alamin can be converted to inactive cob(II)alamin. Reductive methylation by S-adenosyl-L-methionine and flavodoxin regenerates methylcobalamin.
messages: Monomer (PubMed:17288554). Dimer (PubMed:17288554). Forms a multiprotein complex with MMACHC, MMADHC and MTRR (PubMed:17288554, PubMed:16769880, PubMed:27771510).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle and placenta (PubMed:8968737, PubMed:8968735). Expressed at lower levels in lung, liver and kidney (PubMed:8968737, PubMed:8968735).

9606:UGT2A3
gene id: 9606:UGT2A3
uniprot id: Q6UWM9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the UDP-glycosyltransferase family.
messages: Membrane
messages: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity).

9606:CYP3A7-CYP3A51P
gene id: 9606:CYP3A7-CYP3A51P
uniprot id: P24462
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins during embryogenesis (PubMed:9555064, PubMed:11093772, PubMed:14559847, PubMed:12865317, PubMed:17178770). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:9555064, PubMed:11093772, PubMed:14559847, PubMed:12865317, PubMed:17178770). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone, DHEA), a precursor in the biosynthesis of androgen and estrogen steroid hormones (PubMed:9555064, PubMed:17178770). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1), particularly D-ring hydroxylated estrone at the C16-alpha position (PubMed:14559847, PubMed:12865317). Mainly hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in atRA clearance during fetal development (PubMed:11093772). Also involved in the oxidative metabolism of xenobiotics including anticonvulsants (PubMed:9555064).
messages: Belongs to the cytochrome P450 family.
messages: Endoplasmic reticulum membrane
messages: Expressed in fetal liver (at protein level).
messages: Microsome membrane

9606:PSORS1C2
gene id: 9606:PSORS1C2
uniprot id: Q9UIG4
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in skin. Also expressed in heart and skeletal muscle.
messages: Secreted

9606:OR8K1
gene id: 9606:OR8K1
uniprot id: A0A126GVZ6
uniprot id: Q8NGG5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:C3orf18
gene id: 9606:C3orf18
uniprot id: Q9UK00
names: Subcellular Location Annotation
messages: Membrane

9606:IFNB1
gene id: 9606:IFNB1
uniprot id: A0A7R8GV38
uniprot id: P01574
names: Function
names: Pharmaceutical
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Alleviates the exacerbations of multiple sclerosis (MS) (PubMed:8469318, PubMed:8469319). Available under the names Avonex (Biogen), Betaseron (Berlex) and Rebif (Serono) (PubMed:9345408). Betaseron is a slightly modified form of IFNB1 with two residue substitutions (PubMed:9345408).
messages: Belongs to the alpha/beta interferon family.
messages: Monomer.
messages: Secreted
messages: Type I interferon cytokine that plays a key role in the innate immune response to infection, developing tumors and other inflammatory stimuli (PubMed:6157094, PubMed:6171735, PubMed:8027027, PubMed:7665574, PubMed:8969169, PubMed:10049744, PubMed:10556041). Signals via binding to high-affinity (IFNAR2) and low-affinity (IFNAR1) heterodimeric receptor, activating the canonical Jak-STAT signaling pathway resulting in transcriptional activation or repression of interferon-regulated genes that encode the effectors of the interferon response, such as antiviral proteins, regulators of cell proliferation and differentiation, and immunoregulatory proteins (PubMed:8027027, PubMed:7665574, PubMed:8969169, PubMed:10049744, PubMed:10556041). Signals mostly via binding to a IFNAR1-IFNAR2 heterodimeric receptor, but can also function with IFNAR1 alone and independently of Jak-STAT pathways (By similarity). Elicits a wide variety of responses, including antiviral and antibacterial activities, and can regulate the development of B-cells, myelopoiesis and lipopolysaccharide (LPS)-inducible production of tumor necrosis factor (By similarity). Plays a role in neuronal homeostasis by regulating dopamine turnover and protecting dopaminergic neurons: acts by promoting neuronal autophagy and alpha-synuclein clearance, thereby preventing dopaminergic neuron loss (By similarity). IFNB1 is more potent than interferon-alpha (IFN-alpha) in inducing the apoptotic and antiproliferative pathways required for control of tumor cell growth (By similarity).

9606:UMODL1
gene id: 9606:UMODL1
uniprot id: Q5DID0
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Isoform 4 is expressed at low level in kidney, testis and fetal thymus. Isoform 3 is expressed at low level in prostate, testis and fetal thymus.

9606:SKIV2L
gene id: 9606:SKIV2L
uniprot id: Q15477
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the helicase family. SKI2 subfamily.
messages: Component of the SKI complex which consists of SKIC2, SKIC3 and SKIC8 (PubMed:16024656). Interacts with HBS1L isoform 2 (PubMed:28204585).
messages: Cytoplasm
messages: Helicase; has ATPase activity (PubMed:7610041). Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C) (PubMed:16024656).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PARP3
gene id: 9606:PARP3
uniprot id: A0A024R318
uniprot id: Q9Y6F1
names: Activity Regulation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Auto-mono-ADP-ribosylated.
messages: Belongs to the ARTD/PARP family.
messages: Chromosome
messages: Interacts with PARP1; leading to activate PARP1 in absence of DNA (PubMed:16924674, PubMed:20064938). Interacts with PRKDC (PubMed:16924674). Interacts with XRCC5/Ku80; the interaction is dependent on nucleic acids (PubMed:16924674, PubMed:24598253). Interacts with XRCC6/Ku70; the interaction is dependent on nucleic acids (PubMed:16924674, PubMed:24598253). Interacts with EZH2, HDAC1, HDAC2, SUZ12, YY1, LRIG3 and LIG4 (PubMed:16924674).
messages: Mono-ADP-ribosyltransferase activity of PARP3 is selectively inhibited by ME0328 compound; ME0328 does not inhibit other ARTD/PARP enzymes, such as PARP1 (PubMed:23742272). Mono-ADP-ribosyltransferase is strongly inhibited by KU0058948 compound (PubMed:19354255).
messages: Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins and plays a key role in the response to DNA damage (PubMed:16924674, PubMed:20064938, PubMed:21211721, PubMed:21270334, PubMed:25043379, PubMed:24598253, PubMed:28447610, PubMed:19354255, PubMed:23742272). Mediates mono-ADP-ribosylation of glutamate, aspartate or lysine residues on target proteins (PubMed:20064938, PubMed:25043379). In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation (PubMed:25043379). Involved in DNA repair by mediating mono-ADP-ribosylation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism, such as histone H2B, XRCC5 and XRCC6 (PubMed:16924674, PubMed:24598253). ADP-ribosylation follows DNA damage and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:16924674, PubMed:21211721, PubMed:21270334). Involved in single-strand break repair by catalyzing mono-ADP-ribosylation of histone H2B on 'Glu-2' (H2BE2ADPr) of nucleosomes containing nicked DNA (PubMed:27530147). Cooperates with the XRCC5-XRCC6 (Ku80-Ku70) heterodimer to limit end-resection thereby promoting accurate NHEJ (PubMed:24598253). Suppresses G-quadruplex (G4) structures in response to DNA damage (PubMed:28447610). Associates with a number of DNA repair factors and is involved in the response to exogenous and endogenous DNA strand breaks (PubMed:16924674, PubMed:21211721, PubMed:21270334). Together with APLF, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) (PubMed:21211721). May link the DNA damage surveillance network to the mitotic fidelity checkpoint (PubMed:16924674). Acts as a negative regulator of immunoglobulin class switch recombination, probably by controlling the level of AICDA /AID on the chromatin (By similarity). In addition to proteins, also able to ADP-ribosylate DNA: medi…
messages: Most abundant isoform.
messages: Nucleus
messages: Widely expressed; the highest levels are in the kidney, skeletal muscle, liver, heart and spleen; also detected in pancreas, lung, placenta, brain, leukocytes, colon, small intestine, ovary, testis, prostate and thymus.
messages: centriole
messages: centrosome

9606:CIB3
gene id: 9606:CIB3
uniprot id: Q96Q77
names: Function
names: Miscellaneous
names: Subunit
messages: Acts a an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (By similarity). Plays a role in regulating hair cell MET channel localization and function (By similarity).
messages: Monomer and homodimer (PubMed:34089643). Interacts with ITGA2B (via C-terminus cytoplasmic tail region); the interaction is stabilized/increased in a calcium and magnesium-dependent manner (PubMed:22779914). Interacts with TMC1 (By similarity).
messages: The binding of either calcium or magnesium significantly increases the structural stability of the protein in comparison to apo-CIB (calcium- and magnesium-free form).

9606:MTFR2
gene id: 9606:MTFR2
uniprot id: Q6P444
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the MTFR1 family.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity).
messages: Mitochondrion

9606:HOXB13
gene id: 9606:HOXB13
uniprot id: Q4KR72
uniprot id: Q92826
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Abd-B homeobox family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Heterodimer with MEIS1 (PubMed:28473536). Heterodimer with MEIS2 (Ref.8).
messages: Nucleus
messages: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds preferentially to methylated DNA (PubMed:28473536).

9606:GORASP2
gene id: 9606:GORASP2
uniprot id: Q9H8Y8
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GORASP family.
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus
messages: Golgi apparatus membrane
messages: Homodimer. Homooligomer. ER stress induces phosphorylation-dependent monomerization (PubMed:27062250). Interacts with BLZF1/Golgin 45 (PubMed:11739401). Identified in a complex with RAB2 and GORASP2 (PubMed:11739401). Interacts with JAM2 and JAM3 (By similarity). Interacts with members of the p24 cargo receptors (PubMed:11739402). Interacts with CNIH1 and the cytoplasmic domain of transmembrane TGFA, prior its transit in the trans-Golgi (PubMed:11101516, PubMed:17607000). Interacts with KCTD5 (PubMed:19361449). Interacts with TMED2 and TMED3 (By similarity). Interacts with SEC16A in response to ER stress (PubMed:28067262). Interacts (via PDZ GRASP-type 1 domain) with core-glycosylated CFTR in response to ER stress (PubMed:21884936).
messages: Key structural protein of the Golgi apparatus (PubMed:33301566). The membrane cisternae of the Golgi apparatus adhere to each other to form stacks, which are aligned side by side to form the Golgi ribbon (PubMed:33301566). Acting in concert with GORASP1/GRASP65, is required for the formation and maintenance of the Golgi ribbon, and may be dispensable for the formation of stacks (PubMed:33301566). However, other studies suggest that GORASP2 plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after breakdown during mitosis and meiosis (PubMed:10487747, PubMed:21515684, PubMed:22523075). May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA (PubMed:11101516). Required for normal acrosome formation during spermiogenesis and normal male fertility, probably by promoting colocalization of JAM2 and JAM3 at contact sites between germ cells and Sertoli cells (By similarity). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936, PubMed:27062250, PubMed:28067262).
messages: Myristoylated (PubMed:11101516). Myristoylation is essential for the Golgi targeting (By similarity).
messages: Palmitoylated.
messages: Phosphorylated in mitotic cells (PubMed:11408587). ER stress-induced phosphorylation at Ser-441 induces monomerization and subsequent relocalization from Golgi to ER which is essential for mediating unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane (PubMed:21884936, PubMed:27062250).

9606:C11orf21
gene id: 9606:C11orf21
uniprot id: Q9P2W6
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed exclusively in heart.

9606:NGB
gene id: 9606:NGB
uniprot id: A0M8W9
uniprot id: Q9NPG2
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A redox disulfide bond regulates the heme pocket coordination and the rate of nitrite reduction to NO.
messages: Belongs to the globin family.
messages: Cytoplasm
messages: Involved in oxygen transport in the brain. Hexacoordinate globin, displaying competitive binding of oxygen or the distal His residue to the iron atom. Not capable of penetrating cell membranes. The deoxygenated form exhibits nitrite reductase activity inhibiting cellular respiration via NO-binding to cytochrome c oxidase. Involved in neuroprotection during oxidative stress. May exert its anti-apoptotic activity by acting to reset the trigger level of mitochondrial cytochrome c release necessary to commit the cells to apoptosis.
messages: Mitochondrion
messages: Monomer. Homodimer and homotetramer; disulfide-linked (By similarity). Interacts with 14-3-3.
messages: Perikaryon
messages: Phosphorylated in vitro by ERK1, ERK2 and PKA, and in vivo during hypoxia. Phosphorylation increases nitrite reductase activity.
messages: Predominantly expressed in brain, the strongest expression is seen in the frontal lobe, the subthalamic nucleus and the thalamus.

9606:GIMAP6
gene id: 9606:GIMAP6
uniprot id: A0A090N7V4
uniprot id: B4DH95
uniprot id: Q6P9H5
names: Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily.
messages: Highly expressed in spleen, lymph nodes, lung and placenta. Expressed at moderate level in thymus, kidney, heart and digestive tract. Weakly expressed in other lymphoid tissues. Detected in T-cells.
messages: The sequence shown here is derived from an EMBL/GenBank/DDBJ whole genome shotgun (WGS) entry which is preliminary data.
messages: cytosol

9606:POLH
gene id: 9606:POLH
uniprot id: A0A024RD62
uniprot id: B3KN75
uniprot id: B4DG64
uniprot id: Q9Y253
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DNA polymerase type-Y family.
messages: Binds 2 Mg(2+) (PubMed:27284197). Prefers Mg(2+), but can also use Mn(2+) (PubMed:27284197). In vitro, can also utilize other divalent cations such as Ca(2+) (PubMed:27284197).
messages: DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:24449906, PubMed:24553286, PubMed:16357261). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine (PubMed:24449906). Particularly important for the repair of UV-induced pyrimidine dimers (PubMed:10385124, PubMed:11743006). Although inserts the correct base, may cause base transitions and transversions depending upon the context. May play a role in hypermutation at immunoglobulin genes (PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyase activity, preventing the release of the 5'-deoxyribose phosphate (5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during base excision repair, thereby avoiding high incidence of mutagenesis (PubMed:14630940). Targets POLI to replication foci (PubMed:12606586).
messages: Interacts with REV1 (By similarity). Interacts with monoubiquitinated PCNA, but not unmodified PCNA (PubMed:15149598). Interacts with POLI; this interaction targets POLI to the replication machinery (PubMed:12606586). Interacts with PALB2 and BRCA2; the interactions are direct and are required to sustain the recruitment of POLH at blocked replication forks and to stimulate POLH-dependent DNA synthesis on D loop substrates (PubMed:24485656). Interacts (via C-terminus) with TRAIP (PubMed:24553286). Interacts with ubiquitin (PubMed:16357261). Interacts with POLDIP2 (PubMed:20554254).
messages: Monoubiquitinated by RCHY1/PIRH2 (PubMed:20159558, PubMed:21791603). Ubiquitination depends on integrity of the UBZ3-type zinc finger domain and is enhanced by TRAIP (PubMed:24553286, PubMed:16357261). Ubiquitination inhibits the ability of PolH to interact with PCNA and to bypass UV-induced lesions (PubMed:20159558, PubMed:21791603, PubMed:24553286).
messages: Nucleus
messages: The UBZ3-type zinc finger domain and the PIP-box mediate the interaction with ubiquitinated PCNA and are both necessary for the enzymatic activity in translesion synthesis.
messages: The catalytic core consists of fingers, palm and thumb subdomains, but the fingers and thumb subdomains are much smaller than in high-fidelity polymerases; residues from five sequence motifs of the Y-family cluster around an active site cleft that can accommodate DNA and nucleotide substrates with relaxed geometric constraints, with consequently higher rates of misincorporation and low processivity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The enzyme in complex with the DNA substrate binds a third divalent metal cation (PubMed:27284197). The binding of this third divalent cation, which is coordinated by water molecules and two oxygen atoms from DNA and dNTP, is essential for catalyzing the DNA synthesis (PubMed:27284197).

9606:CLPB
gene id: 9606:CLPB
uniprot id: Q9H078
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ATP-dependent protein disaggregase activity is stimulated by PARL-mediated cleavage of the N-terminal autoinhibitory peptide.
messages: Belongs to the ClpA/ClpB family.
messages: Functions as a regulatory ATPase and participates in secretion/protein trafficking process. Involved in mitochondrial-mediated antiviral innate immunity, activates RIG-I-mediated signal transduction and production of IFNB1 and pro-inflammatory cytokine IL6 (PubMed:31522117). Has ATP-dependent protein disaggregase activity and is required to maintain the solubility of key mitochondrial proteins (PubMed:32573439, PubMed:34115842). Plays a role in granulocyte differentiation (PubMed:34115842).
messages: Interacts with PHB and PHB2 (PubMed:31522117). Interacts with MAVS; the interaction is enhanced by Sendai virus infection (PubMed:31522117).
messages: Mitochondrion intermembrane space
messages: The ankyrin-repeat region is necessary for ATP-dependent protein disaggregase activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed (at protein level) (PubMed:25597511). Expressed in fetal, as well as in adult tissues, with highest levels in adult brain, including thalamus, hippocampus, occipital cortex and parietal cortex. Low expression in granulocytes (PubMed:25597510).

9606:USP32
gene id: 9606:USP32
uniprot id: Q8NFA0
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the peptidase C19 family.
messages: Golgi apparatus
messages: Membrane

9606:PUS3
gene id: 9606:PUS3
uniprot id: A0A087WY59
uniprot id: Q9BZE2
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the tRNA pseudouridine synthase TruA family.
messages: Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SPTLC1
gene id: 9606:SPTLC1
uniprot id: O15269
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
messages: Endoplasmic reticulum membrane
messages: Expression at protein level is highly increased in brains of patients with Alzheimer disease. No changes are observed at mRNA level.
messages: Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. The composition of the complex will define the substrate specificity. Interacts with SPTSSA and SPTSSB; the interaction is direct (PubMed:19416851). Interacts with ORMDL3 (PubMed:20182505). Interacts with RTN4 (isoform B) (By similarity).
messages: Phosphorylation at Tyr-164 inhibits activity and promotes cell survival.
messages: SPTLC1 variants at Ser-331 are responsible for severe hereditary motor and sensory neuropathy (HMSN) forms, whose core features are severe, diffuse muscle wasting and hypotonia, motor and sensory disturbances, foot ulcers, amputations and/or burns, joint hypermobility, cataracts and considerable growth retardation.
messages: Serine palmitoyltransferase (SPT) (PubMed:19416851). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core (PubMed:19416851). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference (PubMed:19416851). The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19416851). The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (PubMed:19416851). Required for adipocyte cell viability and metabolic homeostasis (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Not detected in small intestine.

9606:ERC1
gene id: 9606:ERC1
uniprot id: G8JLD3
uniprot id: Q8IUD2
uniprot id: X6RLX0
names: Disease Annotation
names: Function
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving ERC1/RAB6IP2 is found in papillary thyroid carcinomas (PTCs). Translocation t(10;12)(q11;p13) involving RET. In vitro, isoform 1, isoform 3 and isoform 5 participating in a ERC1-RET fusion protein activate tyrosine-protein kinase activity.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Golgi apparatus membrane
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Membrane
messages: Part of a complex with CHUK, IKBKB and IKBKG. Interacts with CHUK, IKBKB and IKBKG. The interaction with IKBKG is independent of CHUK and IKBKB. Interacts with NFKBIA. Isoform 4 interacts with PPFIA1, and through its C-terminus with the PDZ domains of RIMS1 and RIMS2. Interacts with ERC2/CAST1. Interacts with the GTB-bound forms of RAB6A isoform 1 and isoform 2 and with RAB6B. The interaction was strongest with RAB6B, followed by RAB6A isoform 2 and weakest with RAB6A isoform 1 (By similarity). Interacts with SDCCAG8.
messages: Presynaptic cell membrane
messages: Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.
messages: Widely expressed. Isoform 2 and isoform 4 are abundantly expressed in brain. Isoform 1 and isoform 3 are predominantly expressed in testis and thyroid, and isoform 1 predominates in other tissues tested.
messages: centrosome

9606:DAPL1
gene id: 9606:DAPL1
uniprot id: A0PJW8
names: Function
names: Tissue Specificity
messages: Expressed in hair follicle (at protein level).
messages: May play a role in the early stages of epithelial differentiation or in apoptosis.

9606:PRB2
gene id: 9606:PRB2
uniprot id: P02812
names: Miscellaneous
names: PTM
names: Polymorphism
names: Subcellular Location Annotation
messages: N- and O-glycosylated. In head and neck cancer patients, O-glycosylated with glucosylgalactosyl carbohydrate moiety. This modification would require prior hydroxylation on the lysine residue.
messages: Peptides IB-9 and P-E are the same peptide.
messages: Proteolytically cleaved at the tripeptide Xaa-Pro-Gln, where Xaa in the P(3) position is mostly lysine. The endoprotease may be of microbial origin.
messages: Pyroglutamate formation occurs on terminal Gln residues of cleaved peptides. Pyroglutamate formation found on at least Gln-398 and Gln-400.
messages: Secreted
messages: The number of repeats is polymorphic and varies among different alleles (PubMed:2851479).

9606:PABPC1L2A
gene id: 9606:PABPC1L2A
uniprot id: Q5JQF8
names: Miscellaneous
messages: May be not functional as it lacks the poly(A)-binding protein C-terminal (PABC) domain implicated in the mRNA stability and translation regulation.

9606:VPS53
gene id: 9606:VPS53
uniprot id: A0A7P0T9B2
uniprot id: A0A7P0Z400
uniprot id: B3KS06
uniprot id: Q5VIR6
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).
messages: Belongs to the VPS53 family.
messages: Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54 (PubMed:27440922, PubMed:15878329). Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin (PubMed:25799061, PubMed:27440922). EIPR1 interacts with both EARP and GARP complexes and mediates the recruitment of the GARP complex to the trans-Golgi network (PubMed:27440922). Interacts with VPS50 in an EIPR1-independent manner (PubMed:31721635).
messages: Endosome membrane
messages: Membrane
messages: Probable cloning artifact.
messages: Recycling endosome
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: trans-Golgi network membrane

9606:SLX4IP
gene id: 9606:SLX4IP
uniprot id: Q5VYV7
names: Disease Annotation
names: Sequence Caution
names: Similarity
names: Subunit
messages: Belongs to the SLX4IP family.
messages: Chromosomal aberrations involving SLX4IP are found in acute lymphoblastic leukemia. A site-specific deletion within the 5' region of SLX4IP is found in 30% of childhood acute lymphoblastic leukemia in general and more than 60% of ETV6/RUNX1-rearranged acute lymphoblastic leukemia. Breakpoints within SLX4IP reveal junctions with typical characteristics of illegitimate V(D)J mediated recombination. SLX4IP deletions are significantly associated with male gender and ETV6/RUNX1-rearranged acute lymphoblastic leukemia.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Interacts with SLX4/BTBD12; subunit of different structure-specific endonucleases.

9606:ZNF473
gene id: 9606:ZNF473
uniprot id: Q8WTR7
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Interacts with the SLBP/pre-mRNA complex but not with SLBP alone. Interacts with LSM11 in a U7 snRNP-dependent manner.
messages: Involved in histone 3'-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex. Increases histone 3'-end pre-mRNA processing but has no effect on U7 snRNP levels, when overexpressed. Required for cell cycle progression from G1 to S phases.
messages: Nucleus
messages: The C2H2-type zinc finger 2 to 6 are necessary and sufficient for discrete Cajal bodies localization. The C2H2-type zinc finger 5 to 10 are necessary and sufficient for interaction with LSM11. The C2H2-type zinc finger 2 to 8 are necessary for interaction with the SLBP/RNA complex in the histone pre-mRNAs. The C2H2-type zinc finger 2 to 10 confer activity in histone pre-mRNA processing.

9606:KMT2C
gene id: 9606:KMT2C
uniprot id: Q8NEZ4
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
messages: Component of the MLL3 complex (also named ASCOM complex), at least composed of catalytic subunit KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin (PubMed:17021013, PubMed:17500065, PubMed:23508102). Forms a core complex with the evolutionary conserved subcomplex WRAD composed of WDR5, RBBP5, ASH2L/ASH2 and DPY30 subunits; WRAD differentially stimulates the methyltransferase activity (PubMed:25561738). Interacts (via WIN motif) with WDR5 (PubMed:22665483, PubMed:22266653).
messages: Found in a critical region of chromosome 7, which is commonly deleted in malignant myeloid disorders. Partial duplication of the KMT2C gene are found in the juxtacentromeric region of chromosomes 1, 2, 13 and 21. Juxtacentromeric reshuffling of the KMT2C gene has generated the BAGE genes.
messages: Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver.
messages: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:24081332, PubMed:22266653). Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements (PubMed:24081332).
messages: Intron retention.
messages: Nucleus
messages: The SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TACR3
gene id: 9606:TACR3
uniprot id: P29371
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: The anchoring of this receptor to the plasma membrane is probably mediated by the palmitoylation of a cysteine residue.
messages: The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in TACR3 as well as in other HH-associated genes including FGFR1, SPRY4 and KAL1 (PubMed:23643382).
messages: This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: neuromedin-K > substance K > substance P.

9606:PRAP1
gene id: 9606:PRAP1
uniprot id: Q96NZ9
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Endoplasmic reticulum
messages: Highly expressed in the intestinal epithelial cells (at protein level) (PubMed:32629119). Abundantly expressed in the epithelial cells of the liver, kidney and cervix. Significantly down-regulated in hepatocellular carcinoma and right colon adenocarcinoma compared with the respective adjacent normal tissues. Expressed in epididymis (at protein level).
messages: Interacts with isoform 1 and isoform 3 of MAD1L1 (PubMed:24374861). Interacts with MTTP (By similarity).
messages: Lipid-binding protein which promotes lipid absorption by facilitating MTTP-mediated lipid transfer (mainly triglycerides and phospholipids) and MTTP-mediated apoB lipoprotein assembly and secretion (By similarity). Protects the gastrointestinal epithelium from irradiation-induced apoptosis (By similarity). May play an important role in maintaining normal growth homeostasis in epithelial cells (PubMed:14583459). Involved in p53/TP53-dependent cell survival after DNA damage (PubMed:23235459). May down-regulate the expression of MAD1L1 and exert a suppressive role in mitotic spindle assembly checkpoint in hepatocellular carcinomas (PubMed:24374861).
messages: Secreted
messages: Up-regulated by butyrate, trichostatin A and 5'-aza-2' deoxycytidine (PubMed:14583459). Induced by DNA-damaging agents in a p53/TP53-dependent manner in HepG2 liver cancer cell line and HCT116 colon cancer cell line (PubMed:23235459).

9606:BBS10
gene id: 9606:BBS10
uniprot id: Q8TAM1
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates in the pathogenesis of obesity in BBS.
messages: Belongs to the TCP-1 chaperonin family.
messages: Component of a complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 and CCT8.
messages: Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium

9606:LTB4R
gene id: 9606:LTB4R
uniprot id: Q15722
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues.
messages: Phosphorylated by GRK6 upon leukotriene B4 binding; which promotes desensitization.
messages: Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response.

9606:HACD4
gene id: 9606:HACD4
uniprot id: Q5VWC8
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the very long-chain fatty acids dehydratase HACD family.
messages: Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.
messages: Endoplasmic reticulum membrane
messages: Highly expressed in leukocytes, and low expression in heart, spleen, kidney, and placenta.
messages: May interact with enzymes of the ELO family (including ELOVL1); with those enzymes that mediate condensation, the first of the four steps of the reaction cycle responsible for fatty acids elongation, may be part of a larger fatty acids elongase complex.
messages: Shares some similarity with tyrosine phosphatase proteins but it has probably no phosphatase activity.

9606:PRMT3
gene id: 9606:PRMT3
uniprot id: O60678
names: Activity Regulation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.
messages: Cytoplasm
messages: Inhibited by N-ethylmaleimide and high concentrations of zinc chloride.
messages: Monomer and homodimer (By similarity). Interacts with EPB41L3 (via FERM domain); the interaction is direct and inhibits the protein-arginine N-methyltransferase activity of PRMT3 (PubMed:15334060). Interacts with the 40S ribosomal protein RPS2 (PubMed:21059412, PubMed:30530495). Interacts with ALDH1A1; the interaction is direct, inhibits ALDH1A1 aldehyde dehydrogenase activity and is independent of the methyltransferase activity of PRMT3 (PubMed:33495566).
messages: Protein-arginine N-methyltransferase that catalyzes both the monomethylation and asymmetric dimethylation of the guanidino nitrogens of arginine residues in target proteins, and therefore falls into the group of type I methyltransferases (Probable). May regulate retinoic acid synthesis and signaling by inhibiting ALDH1A1 retinal dehydrogenase activity (PubMed:33495566).
messages: The C2H2-type zinc-finger is responsible for substrate specificity.

9606:PTPN22
gene id: 9606:PTPN22
uniprot id: Q9Y2R2
names: Activity Regulation
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating 'Tyr-493' residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106). Dephosphorylates phospho-anandamide (p-AEA), an endocannabinoid to anandamide (also called N-arachidonoylethanolamide) (By similarity).
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily.
messages: By muramyl-dipeptide and lipopolysaccharide.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Down-regulated by phosphorylation.
messages: Due to intron retention.
messages: Expressed in bone marrow, B and T-cells, PBMCs, natural killer cells, monocytes, dendritic cells and neutrophils (PubMed:15208781). Both isoform 1 and 4 are predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed in thymocytes and both mature B and T-cells.
messages: Interacts with CSK (PubMed:15208781). Interacts with LPXN (By similarity). Interacts with CBL (PubMed:10068674). Interacts with TRAF3 (via MATH domain); the interaction promotes TRAF3 polyubiquitination (PubMed:23871208).
messages: Lacks most of the phosphatase domain and functions as a dominant negative isoform of the full length PTPN22.
messages: Phosphorylation on Ser-35 by PKC/PRKCD abrogates its ability to dephosphorylate and inactivate the SRC family kinases.

9606:CST2
gene id: 9606:CST2
uniprot id: P09228
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the cystatin family.
messages: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in submandibular gland and parotid gland.
messages: Secreted
messages: Thiol protease inhibitor.

9606:AVL9
gene id: 9606:AVL9
uniprot id: A0A024RA36
uniprot id: Q8NBF6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the AVL9 family.
messages: Endosome
messages: Functions in cell migration.
messages: Membrane
messages: Recycling endosome

9606:PTTG1IP
gene id: 9606:PTTG1IP
uniprot id: P53801
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By transcription factor RUNX2.
messages: Cytoplasm
messages: Interacts with PTTG1.
messages: May facilitate PTTG1 nuclear translocation.
messages: Membrane
messages: Nucleus
messages: Ubiquitous.

9606:TRA2B
gene id: 9606:TRA2B
uniprot id: P62995
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the splicing factor SR family.
messages: Dimethylation at Arg-241 is probably asymmetric.
messages: Found in a pre-mRNA exonic splicing enhancer (ESE) complex with TRA2B/SFRS10, SNRNP70, SNRPA1 and SRRM1 (PubMed:10339552). Binds to A3 enhancer proteins SFRS4, SFRS5, SFRS6 and SFRS9. Interacts with CPSF6, RBMY1A1, RBMX, RNPS1 and phosphorylated SFRS13A (PubMed:10749975, PubMed:12165565, PubMed:14729963, PubMed:14765198, PubMed:15169763, PubMed:19282290). Interacts with SAFB/SAFB1 (By similarity). Interacts with ILDR1 (via C-terminus) and ILDR2 (By similarity).
messages: Highest expression in heart, skeletal muscle and pancreas. Less abundant in kidney, placenta and brain. Lowest expression in kidney and liver.
messages: Nucleus
messages: Phosphorylated in the RS domains.
messages: Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre-mRNA.

9606:RAB3GAP2
gene id: 9606:RAB3GAP2
uniprot id: Q9H2M9
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Rab3-GAP regulatory subunit family.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:9733780, PubMed:24891604). As part of the Rab3GAP complex, acts as a GAP for Rab3 proteins by converting active RAB3-GTP to the inactive form RAB3-GDP (By similarity). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones (By similarity). The Rab3GAP complex, acts as a GEF for RAB18 by promoting the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:24891604). Required for recruiting and activating RAB18 at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure (PubMed:24891604). Required for normal eye and brain development (By similarity). May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters (By similarity).
messages: The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP1 and RAB3GAP2 (By similarity). The Rab3 GTPase-activating complex interacts with DMXL2 (By similarity). Interacts with LMAN1 (PubMed:22337587).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:XAB2
gene id: 9606:XAB2
uniprot id: Q9HCS7
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Alternative splicing. Incomplete sequence.
messages: Associates with RNA polymerase II, the TCR-specific proteins CKN1/CSA and ERCC6/CSB, and XPA (PubMed:10944529). Identified in the spliceosome C complex (PubMed:11991638, PubMed:28502770, PubMed:28076346). Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE (PubMed:17981804). Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex (PubMed:25599396). The IB complex does not contain PRPF19 (PubMed:25599396).
messages: Belongs to the crooked-neck family.
messages: Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing (PubMed:10944529, PubMed:17981804).
messages: Nucleus

9606:C16orf87
gene id: 9606:C16orf87
uniprot id: Q6PH81
names: Similarity
messages: Belongs to the UPF0547 family.

9606:BIVM
gene id: 9606:BIVM
uniprot id: Q86UB2
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the BIVM family.
messages: Cytoplasm
messages: Nucleus
messages: Widely expressed. Expressed at higher level in spleen, ovary, small intestine, colon, peripheral blood leukocytes and liver. Also expressed in testis, ovary, aorta, appendix, trachea, pituitary gland, bladder, uterus, spinal cord, salivary gland, stomach, mammary gland and bone marrow. Weakly or not expressed in fetal spleen, adult thymus and certain cancer cell lines.

9606:ATP5F1D
gene id: 9606:ATP5F1D
uniprot id: P30049
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ATPase epsilon chain family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MK and ATP5MJ (By similarity).
messages: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:29478781). F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (PubMed:1531933).
messages: Mitochondrion
messages: Mitochondrion inner membrane

9606:NDUFV1
gene id: 9606:NDUFV1
uniprot id: E5KNH5
uniprot id: P49821
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the complex I 51 kDa subunit family.
messages: Binds 1 FMN.
messages: Binds 1 [4Fe-4S] cluster.
messages: Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891). This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme (PubMed:12611891). Interacts with RAB5IF (PubMed:31536960).
messages: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor.
messages: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I.
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:KRTAP13-3
gene id: 9606:KRTAP13-3
uniprot id: Q3SY46
names: Function
names: Similarity
names: Subunit
messages: Belongs to the PMG family.
messages: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).
messages: Interacts with hair keratins.

9606:EFCAB6
gene id: 9606:EFCAB6
uniprot id: Q5THR3
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds PARK7. Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.
messages: Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex (PubMed:12612053). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (Probable).
messages: Nucleus
messages: Specifically expressed in the testis.
messages: cilium axoneme

9606:TRIM15
gene id: 9606:TRIM15
uniprot id: Q9C019
names: Similarity
messages: Belongs to the TRIM/RBCC family.

9606:FANCB
gene id: 9606:FANCB
uniprot id: Q8NB91
names: Disease Annotation
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.
messages: Contaminating sequence. Potential poly-A sequence.
messages: DNA repair protein required for FANCD2 ubiquitination.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SCGB3A2
gene id: 9606:SCGB3A2
uniprot id: Q96PL1
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the secretoglobin family. UGRP subfamily.
messages: Expressed in fetal lung.
messages: Highly expressed in lung and trachea (PubMed:12406855, PubMed:12175512, PubMed:12847263). Detected throughout the airway epithelium in lung, with slightly higher expression in large airways (PubMed:12406855). Found in lung submucosal gland acinus where it localizes to serous-like cells (PubMed:12406855). Probably expressed in club cells of the bronchioles (PubMed:12847263). Not detected in other tissues tested (PubMed:12847263).
messages: Homodimer; disulfide-linked (PubMed:24213919). Monomer (PubMed:24213919). Interacts with APOA1 (PubMed:12847263).
messages: Secreted
messages: Secreted cytokine-like protein (PubMed:12847263). Binds to the scavenger receptor MARCO (PubMed:12847263). Can also bind to pathogens including the Gram-positive bacterium L.monocytogenes, the Gram-negative bacterium P.aeruginosa, and yeast (PubMed:12847263). Strongly inhibits phospholipase A2 (PLA2G1B) activity (PubMed:24213919). Seems to have anti-inflammatory effects in respiratory epithelium (By similarity). Also has anti-fibrotic activity in lung (PubMed:24213919). May play a role in fetal lung development and maturation (PubMed:24213919). Promotes branching morphogenesis during early stages of lung development (PubMed:24213919). In the pituitary, may inhibit production of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (By similarity).

9606:TBC1D24
gene id: 9606:TBC1D24
uniprot id: Q9ULP9
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Cytoplasmic vesicle membrane
messages: Highest expression in brain.
messages: Interacts with ARF6.
messages: May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515). Involved in the regulation of synaptic vesicle trafficking (PubMed:31257402).
messages: Presynapse
messages: The Rab-GAP TBC domain is essential for phosphatidylinositol binding.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:GNA14
gene id: 9606:GNA14
uniprot id: O95837
names: Function
names: Similarity
names: Subunit
messages: Belongs to the G-alpha family. G(q) subfamily.
messages: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.
messages: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.

9606:PJVK
gene id: 9606:PJVK
uniprot id: A0PK15
uniprot id: Q0ZLH3
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: 'Pejvakin' means 'echo' in Persian.
messages: Belongs to the gasdermin family.
messages: Interacts with MAP1LC3B; interaction is direct. Interacts with IQGAP1. Interacts with ROCK2. Interacts with TRIOBP.
messages: Peroxisome membrane
messages: Peroxisome-associated protein required to protect auditory hair cells against noise-induced damage. Acts by regulating noise-induced peroxisome proliferation in auditory hair cells and neurons, and promoting autophagic degradation of damaged peroxisomes (pexophagy). Noise overexposure increases reactive oxygen species (ROS) levels, causing oxidative damage to auditory hair cells and resulting in hearing loss. PJVK acts as a ROS sensor that recruits the autophagy machinery to trigger pexophagy of peroxisomes damaged by oxidative stress. In addition to pexophagy, also required to promote peroxisome proliferation in response to sound overstimulation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium

9606:TINF2
gene id: 9606:TINF2
uniprot id: Q9BSI4
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.
messages: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
messages: Monomer. Found in a complex with POT1; TERF1 and TNKS1. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Interacts with TERF1, TERF2 and ACD.
messages: Nucleus
messages: Nucleus matrix
messages: The TBM domain mediates interaction with TERF1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: telomere

9606:ARHGAP44
gene id: 9606:ARHGAP44
uniprot id: Q17R89
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. Acts as a GAP at least for CDC42 and RAC1 (PubMed:11431473). In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity (By similarity). Limits the initiation of exploratory dendritic filopodia. Recruited to actin-patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin mediated contractile forces. Acts through GAP activity on RAC1 to reduce actin polymerization necessary for filopodia formation (By similarity). In association with SHANK3, promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation (By similarity).
messages: Highly expressed in brain. Expressed at weak level in other tissues.
messages: Interacts with BST2 (via cytoplasmic domain). Interacts (probably via PDZ-binding motif) with SHANK3 (via PDZ domain); the interaction takes place in dendritic spines and promotes GRIA1 exocytosis.
messages: Presynapse
messages: Recycling endosome
messages: Rho-GAP domain is required to promote GRIA1 exocytosis from recycling endosomes. Rho-GAP and BAR domains are necessary for the control of long-term potentiation in hippocampal neurons (By similarity). In dendrites, BAR domain mediates the recruitment to patches where plasma membrane is deformed by acto-myosin mediated contractile forces (By similarity).
messages: dendrite
messages: dendritic spine

9606:AREL1
gene id: 9606:AREL1
uniprot id: O15033
names: Function
names: PTM
names: Subunit
messages: Autoubiquitinated in vitro in the presence of E2 enzyme UBE2D1/UBCH5A.
messages: E3 ubiquitin-protein ligase that catalyzes 'Lys-11'- or 'Lys-33'-linked polyubiquitin chains, with some preference for 'Lys-33' linkages (PubMed:25752577). E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:23479728, PubMed:31578312). Ubiquitinates SEPTIN4, DIABLO/SMAC and HTRA2 in vitro (PubMed:23479728). Modulates pulmonary inflammation by targeting SOCS2 for ubiquitination and subsequent degradation by the proteasome (PubMed:31578312).
messages: Interacts with SOCS2 (PubMed:31578312). Interacts (via HECT domain) with HTRA2, DIABLO/SMAC and SEPTIN4; in the cytoplasm following induction of apoptosis (PubMed:23479728).

9606:IL2RB
gene id: 9606:IL2RB
uniprot id: P14784
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HTLV-1 accessory protein p12I.
messages: Belongs to the type I cytokine receptor family. Type 4 subfamily.
messages: Cell membrane
messages: Non-covalent dimer of an alpha and a beta subunit. IL2R exists in 3 different forms: a high affinity dimer, an intermediate affinity monomer (beta subunit), and a low affinity monomer (alpha subunit). The high and intermediate affinity forms also associate with a gamma subunit. Interacts with SHB upon interleukin stimulation.
messages: Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770, PubMed:31040185).
messages: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
messages: The box 1 motif is required for JAK interaction and/or activation.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ISOC1
gene id: 9606:ISOC1
uniprot id: Q96CN7
names: Similarity
messages: Belongs to the isochorismatase family.

9606:ZNF789
gene id: 9606:ZNF789
uniprot id: Q5FWF6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:BMP10
gene id: 9606:BMP10
uniprot id: O95393
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TGF-beta family.
messages: Detected in mammary epithelia (at protein level).
messages: Down-regulated in some breast cancer subtypes and breast cancer cell lines.
messages: Homodimer; disulfide-linked (By similarity). Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631). Interacts with ENG (PubMed:21737454).
messages: Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines.
messages: Secreted

9606:DDX28
gene id: 9606:DDX28
uniprot id: Q9NUL7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DEAD box helicase family.
messages: Expressed in all tissues tested, including brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, leukocytes, colon, small intestine, ovary and prostate.
messages: Mitochondrion
messages: Mitochondrion matrix
messages: Monomer. Found in a complex with GRSF1, DHX30, FASTKD2 and FASTKD5. Associates with the 16S mitochondrial rRNA (16S mt-rRNA) and with the mitochondrial ribosome large subunit (39S).
messages: Nucleus
messages: Plays an essential role in facilitating the proper assembly of the mitochondrial large ribosomal subunit and its helicase activity is essential for this function (PubMed:25683708, PubMed:25683715). May be involved in RNA processing or transport. Has RNA and Mg(2+)-dependent ATPase activity (PubMed:11350955).
messages: mitochondrion nucleoid

9606:IFT57
gene id: 9606:IFT57
uniprot id: Q9NWB7
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the IFT57 family.
messages: Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88 (By similarity). Interacts with IFT20 (By similarity). Interacts with IFT88 (By similarity). Interacts with IFT80, IFT-81, IFT74, IFT172, TTC30B and KIF17 (By similarity). Interacts with BLOC1S2 (By similarity). Interacts with RYBP (By similarity). Interacts with HOMER1; the interaction possibly prevents the pro-apoptotic effects of IFT57 (By similarity). Interacts with HIP1 (PubMed:11788820). In normal conditions, it poorly interacts with HIP1, HIP1 being strongly associated with HTT (PubMed:11788820). However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57, leading to apoptosis (PubMed:11788820). Interacts with BFAR (PubMed:14502241). Interacts with TTC25 (PubMed:25860617). Interacts with USH1G (PubMed:31637240). Interacts with chicken anemia virus protein apoptin (PubMed:12745083).
messages: Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level).
messages: Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The pseudo DED region (pDED) mediates the interaction with HIP1.
messages: cilium
messages: cilium basal body

9606:MARCHF1
gene id: 9606:MARCHF1
uniprot id: Q8TCQ1
names: Developmental Stage
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: By IL10/interleukin-10.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: During maturation of dendritic cells, expression is down-regulated and stabilizes MHC class II proteins accumulate at the plasma membrane.
messages: E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system.
messages: Early endosome membrane
messages: Expressed in antigen presenting cells, APCs, located in lymph nodes and spleen. Also expressed in lung. Expression is high in follicular B-cells, moderate in dendritic cells and low in splenic T-cells.
messages: Has a short half-life. Instability/short half-life permits rapid changes that allow efficient induction of antigen presentation once antigen presenting cells, APCs, receive maturation signals. Small changes in protein levels significantly alter the cell surface display of MHC class II proteins (By similarity).
messages: Late endosome membrane
messages: Lysosome membrane
messages: The RING-CH-type zinc finger domain is required for E3 ligase activity.
messages: trans-Golgi network membrane

9606:SSBP1
gene id: 9606:SSBP1
uniprot id: A4D1U3
uniprot id: B7Z268
uniprot id: Q04837
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA) (PubMed:21953457, PubMed:23290262, PubMed:31550240). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays a crucial role during mtDNA replication by stimulating the activity of the replisome components POLG and TWNK at the replication fork (PubMed:21953457, PubMed:12975372, PubMed:26446790, PubMed:15167897, PubMed:31550240). Promotes the activity of the gamma complex polymerase POLG, largely by organizing the template DNA and eliminating secondary structures to favor ss-DNA conformations that facilitate POLG activity (PubMed:26446790, PubMed:21953457, PubMed:31550240). In addition it is able to promote the 5'-3' unwinding activity of the mtDNA helicase TWNK (PubMed:12975372). May also function in mtDNA repair (PubMed:23290262).
messages: Expressed in retinal ganglion cells, photoreceptors, pigmented epithelium and fibroblasts (at protein level).
messages: Homotetramer (PubMed:23290262, PubMed:31550240). Interacts with MPG/AAG, through inhibition of its glycosylase activity it potentially prevents formation of DNA breaks in ssDNA, ensuring that base removal primarily occurs in dsDNA (PubMed:23290262). Interacts with POLDIP2 (PubMed:16428295). Interacts with PRIMPOL (PubMed:25550423).
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: mitochondrion nucleoid

9606:METTL2B
gene id: 9606:METTL2B
uniprot id: Q6P1Q9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the methyltransferase superfamily. METL family.
messages: Cytoplasm
messages: Monomer (By similarity). Interacts with DALRD3 (PubMed:32427860).
messages: S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Thr)(UGU) and tRNA(Arg)(CCU).

9606:CLOCK
gene id: 9606:CLOCK
uniprot id: O15516
names: Activity Regulation
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: CLOCK-BMAL1 double mutations within the PAS domains result in synergistic desensitization to high levels of CRY on repression of CLOCK-BMAL1 transcriptional activity of PER1 and disrupt circadian rhythmicity.
messages: Component of the circadian clock oscillator which includes the CRY proteins, CLOCK or NPAS2, BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins (By similarity). Interacts with KMT2A; in a circadian manner (By similarity). Forms a heterodimer with BMAL1 (PubMed:21613214, PubMed:23229515). The CLOCK-BMAL1 heterodimer is required for E-box-dependent transactivation, for CLOCK nuclear translocation and degradation, and for phosphorylation of both CLOCK and BMAL1 (By similarity). Interacts with NR3C1 in a ligand-dependent fashion (PubMed:21980503). Interacts with ESR1 and estrogen stimulates this interaction (PubMed:23160374). Interacts with the complex p35/CDK5 (PubMed:24235147). Interacts with RELA/p65 (By similarity). Interacts with KAT2B, CREBBP, EP300 (PubMed:14645221). Interacts with ID1 and ID3 (By similarity). Interacts with ID2 (PubMed:20861012). Interacts with MTA1 (By similarity). Interacts with OGA (By similarity). Interacts with SIRT1 (By similarity). Interacts with CIPC (By similarity). Interacts with EZH2 (By similarity). Interacts with EIF4E, PIWIL1 and DDX4 (By similarity). Interacts with PER2 and CRY1 and the interaction with PER and CRY proteins requires translocation to the nucleus. Interacts with PER1 and CRY2 (By similarity). Interaction of the CLOCK-BMAL1 heterodimer with PER or CRY inhibits transcription activation (PubMed:21613214). Interaction of the CLOCK-BMAL1 with CRY1 is independent of DNA but with PER2 is off DNA (PubMed:21613214). The CLOCK-BMAL1 heterodimer interacts with GSK3B. Interacts with KDM5A (PubMed:21960634). Interacts with MYBBP1A (By similarity). Interacts with THRAP3 (By similarity). Interacts with MED1; this interaction requires the presence of THRAP3 (By similarity). Interacts with NCOA2 (By similarity). The CLOCK-BMAL1 heterodimer interacts with PASD1 (PubMed:25936801). Interacts with ASS1 and IMPDH2; in a circadian manner (PubMed:28985504). Interacts with NDUFA9 (PubMed:28985504). Interacts with PIWIL2 (vi…
messages: Cytoplasm
messages: Hair follicles (at protein level). Expressed in all tissues examined including spleen, thymus, prostate, testis, ovary, small intestine, colon, leukocytes, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Highest levels in testis and skeletal muscle. Low levels in thymus, lung and liver. Expressed in all brain regions with highest levels in cerebellum. Highly expressed in the suprachiasmatic nucleus (SCN).
messages: Nucleus
messages: O-glycosylated; contains O-GlcNAc. O-glycosylation by OGT prevents protein degradation by inhibiting ubiquitination. It also stabilizes the CLOCK-BMAL1 heterodimer thereby increasing CLOCK-BMAL1-mediated transcriptional activation of PER1/2/3 and CRY1/2.
messages: Phosphorylation is dependent on the CLOCK-BMAL1 heterodimer formation. Phosphorylation enhances the transcriptional activity, alters the subcellular localization and decreases the stability of the heterodimer by promoting its degradation. Phosphorylation shows circadian variations in the liver. May be phosphorylated by CSNK1D and CKSN1E.
messages: Sumoylation enhances its transcriptional activity and interaction with ESR1, resulting in up-regulation of ESR1 activity. Estrogen stimulates sumoylation. Desumoylation by SENP1 negatively regulates its transcriptional activity. Sumoylation stimulates cell proliferation and increases the proportion of S phase cells in breast cancer cell lines.
messages: There is conflicting data about the effect of NAD cofactors on activity. PubMed:11441146 suggests that the redox state of the cell can modulate the transcriptional activity of the CLOCK-BMAL1 heterodimer; NADH and NADPH enhance the DNA-binding activity of the heterodimer. PubMed:23229515 reports that NADH and NADPH have no significant effect on DNA-binding activity of the CLOCK-BMAL1 heterodimer.
messages: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a …
messages: Ubiquitinated, leading to its proteasomal degradation.
messages: Undergoes lysosome-mediated degradation in a time-dependent manner in the liver.
messages: cytosol

9606:TRUB2
gene id: 9606:TRUB2
uniprot id: A0A024R886
uniprot id: O95900
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the pseudouridine synthase TruB family.
messages: Forms a regulatory protein-RNA complex, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA.
messages: Minor enzyme contributing to the isomerization of uridine to pseudouridine (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs) such as COXI and COXIII mt-mRNAs (PubMed:27974379, PubMed:31477916). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664). Also catalyzes pseudouridylation of some tRNAs, including synthesis of pseudouridine(55) from uracil-55, in the psi GC loop of a subset of tRNAs (PubMed:33023933).
messages: Mitochondrion matrix

9606:RALGAPB
gene id: 9606:RALGAPB
uniprot id: Q86X10
names: Function
names: Miscellaneous
names: Subunit
names: Tissue Specificity
messages: Component of the heterodimeric RalGAP1 complex with RALGAPA1 and of the heterodimeric RalGAP2 complex with RALGAPA2. Heterodimerization is required for activity (By similarity).
messages: Highly expressed in brain, mostly in amygdala.
messages: May be due to a competing acceptor splice site.
messages: Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.
messages: Splicing acceptor site is not canonical.

9606:TUSC1
gene id: 9606:TUSC1
uniprot id: Q2TAM9
names: Caution
names: Tissue Specificity
messages: It is uncertain whether Met-1 or Met-4 is the initiator.
messages: Widely expressed at low level. Expressed at higher level in testis, weakly expressed in muscle, colon, lung and spleen. Not detected in 3 non small cell lung carcinoma (NSCLC) cell lines with homozygous deletion of the 9p region, while it is down-regulated in 3 other tumor cell lines.

9606:LHFPL7
gene id: 9606:LHFPL7
uniprot id: A0A0C4DG04
uniprot id: Q6ICI0
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TMEM211 family.
messages: Membrane

9606:GPR75-ASB3
gene id: 9606:GPR75-ASB3
uniprot id: Q9Y575
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the ankyrin SOCS box (ASB) family.
messages: Interacts with ELOB and TNFRSF1B.
messages: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

9606:EMILIN3
gene id: 9606:EMILIN3
uniprot id: Q9NT22
names: Subcellular Location Annotation
messages: extracellular matrix

9606:KMT2B
gene id: 9606:KMT2B
uniprot id: Q9UMN6
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
messages: Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, ASH2L, RBBP5, WDR5, DPY30, MEN1; the complex interacts with POLR2A and POLR2B via MEN1 (PubMed:14992727, PubMed:23508102). Interacts with NFE2 (PubMed:17707229). Interacts with KDM6B (PubMed:17825402). Interacts (via WIN motif) with WDR5 (PubMed:22665483, PubMed:22266653, PubMed:18840606). Interacts (via MBM motif) with MEN1 (PubMed:22327296). Forms a core complex with the evolutionary conserved subcomplex WRAD composed of WDR5, RBBP5, ASH2L/ASH2 and DPY30 subunits; WRAD differentially stimulates the methyltransferase activity (PubMed:25561738).
messages: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:17707229). Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements (PubMed:24081332). Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 (PubMed:17707229). Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation (By similarity).
messages: Nucleus
messages: Probably cloning artifact.
messages: The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This protein was first named MLL2 by PubMed:10637508 and PubMed:10409430. MLL2 corresponds to another protein located on chromosome 12 (see AC O14686). Thus, KMT2B/MLL4 is often referred to as MLL2 and vice versa in the literature.
messages: Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas.

9606:LCE2A
gene id: 9606:LCE2A
uniprot id: Q5TA79
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Tissue Specificity
messages: Belongs to the LCE cluster present on 1q21.
messages: Belongs to the LCE family.
messages: By calcium and UVB.
messages: Precursors of the cornified envelope of the stratum corneum.
messages: Skin-specific. Expression was readily detected in adult trunk skin, adult arm skin, fetal skin, penal skin, vulva, esophagus and tongue. Not expressed in the cervix, rectum, lung, colon, or placenta.

9606:PARK7
gene id: 9606:PARK7
uniprot id: Q99497
uniprot id: V9HWC2
names: Caution
names: Cofactor
names: Developmental Stage
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C56 family.
messages: By hydrogen peroxide and UV irradiation (PubMed:14749723, PubMed:15976810). In pancreatic islets, expression increases under hyperglycemic conditions (PubMed:22611253). Expression is also induced by sulforaphane, an isothiocyanate obtained from cruciferous vegetables (PubMed:26995087).
messages: Cell membrane
messages: Cys-106 is easily oxidized to sulfinic acid.
messages: Cytoplasm
messages: Deglycase activity does not require glutathione as a cofactor, however, glycated glutathione constitutes a PARK7 substrate.
messages: Endoplasmic reticulum
messages: Glyoxalase activity has been reported (PubMed:22523093, PubMed:31653696). It may however reflect its deglycase activity (PubMed:25416785).
messages: Highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart. Detected at slightly lower levels in placenta and brain (at protein level). Detected in astrocytes, Sertoli cells, spermatogonia, spermatids and spermatozoa. Expressed by pancreatic islets at higher levels than surrounding exocrine tissues (PubMed:22611253).
messages: Homodimer (PubMed:12851414, PubMed:12796482, PubMed:12855764, PubMed:31653696). Binds EFCAB6/DJBP and PIAS2 (PubMed:11477070, PubMed:12851414, PubMed:12612053). Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR (PubMed:12612053). Interacts (via N-terminus) with OTUD7B (PubMed:21097510). Interacts with BBS1, HIPK1, CLCF1 and MTERF (PubMed:16390825, PubMed:21097510). Forms a complex with PINK1 and PRKN (PubMed:19229105). Interacts (via C-terminus) with NCF1; the interaction is enhanced by LPS and modulates NCF1 phosphorylation and membrane translocation (By similarity). Interacts with NENF (PubMed:31536960).
messages: In pancreatic islets, expression increases during aging.
messages: Membrane raft
messages: Mitochondrion
messages: Multifunctional protein with controversial molecular function which plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease (PubMed:17015834, PubMed:20304780, PubMed:18711745, PubMed:12796482, PubMed:19229105, PubMed:25416785, PubMed:26995087, PubMed:28993701). It is involved in neuroprotective mechanisms like the stabilization of NFE2L2 and PINK1 proteins, male fertility as a positive regulator of androgen signaling pathway as well as cell growth and transformation through, for instance, the modulation of NF-kappa-B signaling pathway (PubMed:12612053, PubMed:15502874, PubMed:14749723, PubMed:17015834, PubMed:21097510, PubMed:18711745). Has been described as a protein and nucleotide deglycase that catalyzes the deglycation of the Maillard adducts formed between amino groups of proteins or nucleotides and reactive carbonyl groups of glyoxals (PubMed:25416785, PubMed:28596309). But this function is rebuted by other works (PubMed:27903648, PubMed:31653696). As a protein deglycase, repairs methylglyoxal- and glyoxal-glycated proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminocarbinols), preventing the formation of advanced glycation endproducts (AGE) that cause irreversible damage (PubMed:25416785, PubMed:28013050, PubMed:26995087). Also functions as a nucleotide deglycase able to repair glycated guanine in the free nucleotide pool (GTP, GDP, GMP, dGTP) and in DNA and RNA. Is thus involved in a major nucleotide repair system named guanine glycation repair (GG repair), dedicated to reversing methylglyoxal and glyoxal damage via nucleotide sanitization and direct nucleic acid repair (PubMed:28596309). Protects histones from adduction by methylgl…
messages: Nucleus
messages: Sumoylated on Lys-130 by PIAS2 or PIAS4; which is enhanced after ultraviolet irradiation and essential for cell-growth promoting activity and transforming activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The protein deglycation activity is controversial. It has been ascribed to a TRIS buffer artifact by a publication (PubMed:27903648) and as a result of the removal of methylglyoxal by glyoxalase activity that leads to a subsequent decomposition of hemithioacetals and hemianimals due to the shift in equilibrium position by another one (PubMed:31653696). However, biochemical experiments showing that PARK7 is a bona fide deglycase have been performed (PubMed:25416785, PubMed:28013050, PubMed:28596309).
messages: Undergoes cleavage of a C-terminal peptide and subsequent activation of protease activity in response to oxidative stress.

9606:NKX2-5
gene id: 9606:NKX2-5
uniprot id: A0A0S2Z383
uniprot id: A0A0S2Z3K2
uniprot id: E5RH49
uniprot id: P52952
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NK-2 homeobox family.
messages: Expressed at embryonic stages 10 to 11 in the nondifferentiated mesodermal cells at the venous and arterial poles, as well as cells of the dorsal coelomic wall and ruptured mesocardium (at protein level) (PubMed:21403123). Expressed by all myocardial cells at embryonic stages 10 to 11 (at protein level) (PubMed:21403123).
messages: Expressed only in the heart.
messages: Homodimer (via the homeobox); binds DNA as homodimer (PubMed:22849347). Interacts (via the homeobox) with TBX5 (via the T-box); this complex binds DNA (PubMed:26926761). Interacts with HIPK1 and HIPK2, but not HIPK3. Interacts with the C-terminal zinc finger of GATA4 through its homeobox domain. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with FBLIM1. Interacts with TBX18 (By similarity). Interacts with histone methyltransferase NSD2 (via HMG box) (By similarity). Interacts with NEDD9 (PubMed:29899023).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The homeobox domain binds to double-stranded DNA (PubMed:22849347).
messages: Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By similarity). May cooperate with TBX2 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). Together with PBX1, required for spleen development through a mechanism that involves CDKN2B repression (PubMed:22560297). Positively regulates transcription of genes such as COL3A1 and MMP2, resulting in increased pulmonary endothelial fibrosis in response to hypoxia (PubMed:29899023).

9606:KLHL10
gene id: 9606:KLHL10
uniprot id: Q6JEL2
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis.
messages: Self-associates (Probable). Interacts with CUL3; indicative for the participation in an E3 ubiquitin ligase complex (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NPY5R
gene id: 9606:NPY5R
uniprot id: Q15761
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Brain; hypothalamus.
messages: Cell membrane
messages: Receptor for neuropeptide Y and peptide YY. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. Seems to be associated with food intake. Could be involved in feeding disorders.

9606:VWF
gene id: 9606:VWF
uniprot id: P04275
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: All cysteine residues are involved in intrachain or interchain disulfide bonds.
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.
messages: Multimeric. Interacts with F8.
messages: N- and O-glycosylated.
messages: Plasma.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules.
messages: extracellular matrix

9606:ZMAT5
gene id: 9606:ZMAT5
uniprot id: Q9UDW3
names: Subcellular Location Annotation
names: Subunit
messages: Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Not found in the major spliceosome.
messages: Nucleus

9606:KCNK16
gene id: 9606:KCNK16
uniprot id: Q96T55
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
messages: Highly expressed in pancreas. Not detectable in the other tissues tested.
messages: Homodimer.
messages: Inhibited by Ba(2+), quinine, quinidine, chloroform and halothane. Activated at alkaline pH.
messages: Membrane
messages: Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents.

9606:CNNM3
gene id: 9606:CNNM3
uniprot id: Q8NE01
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ACDP family.
messages: Cell membrane
messages: Probable metal transporter.
messages: Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-like function in vivo.
messages: Widely expressed. Expressed at higher level in heart and spleen.

9606:FPGT
gene id: 9606:FPGT
uniprot id: O14772
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Catalyzes the formation of GDP-L-fucose from GTP and L-fucose-1-phosphate (PubMed:9804772). Functions as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids (PubMed:9804772).
messages: Cytoplasm
messages: Expressed in many tissues.

9606:PROM1
gene id: 9606:PROM1
uniprot id: A0A0A0N0M1
uniprot id: O43490
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis.
messages: Apical cell membrane
messages: Belongs to the prominin family.
messages: Endoplasmic reticulum
messages: Endoplasmic reticulum-Golgi intermediate compartment
messages: Interacts with CDHR1 and with actin filaments. Interacts with NAT8 and NAT8B.
messages: Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell isolation.
messages: Isoform 1 and isoform 2 are glycosylated.
messages: Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level).
messages: May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: microvillus membrane
messages: photoreceptor outer segment

9606:RPL7
gene id: 9606:RPL7
uniprot id: P18124
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the universal ribosomal protein uL30 family.
messages: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). Homodimer (PubMed:12962325). Interacts with DHX33 (PubMed:26100019).
messages: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547). Binds to G-rich structures in 28S rRNA and in mRNAs (PubMed:12962325). Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs (PubMed:12962325).
messages: Cytoplasm

9606:PCARE
gene id: 9606:PCARE
uniprot id: A6NGG8
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Photoreceptor inner segment
messages: Plays an essential role for normal photoreceptor cell maintenance and vision.
messages: Specifically expressed in retina.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: photoreceptor outer segment

9606:KIFBP
gene id: 9606:KIFBP
uniprot id: Q96EK5
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the KIF-binding protein family.
messages: Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in blood leukocytes.
messages: Interacts with KIF1B (PubMed:16225668). Interacts with STMN2 (PubMed:20621975).
messages: Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Was originally shown to localize in the mitochondrion and to play a role in mitochondrial transport (PubMed:16225668). Recent articles, however, have shown that it does not localize to mitochondria, it interacts with the cytoskeleton and does not have a role in mitochondrial function (PubMed:20621975, PubMed:23427148).
messages: cytoskeleton

9606:RGS20
gene id: 9606:RGS20
uniprot id: O76081
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity).
messages: Forms a complex with G(alpha)z/i2 subunits and mu-opioid receptors; the formation of this complex results in mu-opioid receptor desensitization. Interacts with OPRM1 (By similarity).
messages: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)-i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G-protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity).
messages: Isoform 5 is expressed in brain at high levels in the caudate nucleus and temporal lobe.
messages: Membrane
messages: N- and O-glycosylated in synapsomal membranes.
messages: Nucleus
messages: Serine phosphorylated in synapsomal membranes.
messages: Sumoylated with SUMO1 and SUMO2 in synaptosomes. The sumoylated forms act as a scaffold for sequestering mu-opioid receptor-activated G(alpha) subunits (By similarity).

9606:KLHL4
gene id: 9606:KLHL4
uniprot id: Q9C0H6
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in adult fibroblasts and in a range of fetal tissues including tongue, palate, and mandible.
messages: cytoskeleton

9606:TMEM70
gene id: 9606:TMEM70
uniprot id: Q9BUB7
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TMEM70 family.
messages: Homooligomer (PubMed:24576557, PubMed:33359711). Interacts (homooligomer form) with ATP5MC1; this interaction facilitates the oligomer formation of subunit c/ATP5MC1 (c-ring) and the c-ring membrane insertion and also protects ATP5MC1 against intramitochondrial proteolysis (PubMed:31652072, PubMed:33359711). Interacts with the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 of the MCIA complex (PubMed:33753518). Interacts with ATP5MC3, TMEM242 and TIMMDC1 (PubMed:33753518).
messages: Lower expressed in the heart than in the liver (at protein level).
messages: Mitochondrion inner membrane
messages: Scaffold protein that participates in the c-ring assembly of mitochondrial ATP synthase (F(1)F(0) ATP synthase or complex V) by facilitating the membrane insertion and oligomer formation of the subunit c/ATP5MC1 through its interaction (PubMed:31652072, PubMed:33753518, PubMed:33359711, PubMed:32275929). Therefore, participates in the early stage of mitochondrial ATP synthase biogenesis and also protects subunit c/ATP5MC1 against intramitochondrial proteolysis (PubMed:33359711, PubMed:18953340, PubMed:20937241, PubMed:31652072). In addition, binds the mitochondrial proton-transporting ATP synthase complexes I and may play a role in the stability of its membrane-bound subassemblies (PubMed:32275929).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PGAM1
gene id: 9606:PGAM1
uniprot id: P18669
uniprot id: Q6FHU2
names: Function
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Acetylated at Lys-253, Lys-253 and Lys-254 under high glucose condition. Acetylation increases catalytic activity. Under glucose restriction SIRT1 levels dramatically increase and it deacetylates the enzyme.
messages: Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
messages: Catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglyceratea crucial step in glycolysis, by using 2,3-bisphosphoglycerate (PubMed:23653202). Also catalyzes the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate (PubMed:23653202).
messages: Expressed in the liver and brain. Not found in the muscle.
messages: Homodimer.

9606:ELOVL6
gene id: 9606:ELOVL6
uniprot id: A1LV06
uniprot id: Q9H5J4
names: Activity Regulation
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ELO family. ELOVL6 subfamily.
messages: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.
messages: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.
messages: Endoplasmic reticulum membrane
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: N-Glycosylated.
messages: The reaction is stimulated by the presence of HSD17B12, the enzyme catalyzing the second step of the elongation cycle.
messages: Ubiquitous.

9606:SLC66A1
gene id: 9606:SLC66A1
uniprot id: A0A024RAA1
uniprot id: A0A024RAE3
uniprot id: Q6ZP29
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes.
messages: Belongs to the laat-1 family.
messages: Lysosome membrane
messages: May play a role in the export from lysosomes of cysteamine-cysteine mixed disulfide (MxD), the product formed upon treatment by cysteamine of patients with cystinosis, a disease characterized by the accumulation of cystine in the lysosomes.
messages: Membrane
messages: The di-leucine motif mediates lysosomal localization.

9606:ERGIC1
gene id: 9606:ERGIC1
uniprot id: Q969X5
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ERGIC family.
messages: Endoplasmic reticulum membrane
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: Golgi apparatus membrane
messages: May form a heteromeric complex composed of ERGIC1, ERGIC2 and ERGIC3 (PubMed:31142615). Within the complex, the interaction with ERGIC3 is direct (PubMed:31142615). Interacts with ERGIC3/ERV46 (PubMed:15308636).
messages: N-glycosylated.
messages: Possible role in transport between endoplasmic reticulum and Golgi.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:H2BW1
gene id: 9606:H2BW1
uniprot id: Q7Z2G1
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function.
messages: Belongs to the histone H2B family.
messages: Chromosome
messages: In contrast to other H2B histones, it does not contain the conserved residue in C-terminus that is the target of monoubiquitination.
messages: Nucleus membrane
messages: Ortholog in primates, but not in rodents.
messages: Testis-specific. Present in sperm cells (at protein level).
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.

9606:PLEK2
gene id: 9606:PLEK2
uniprot id: Q9NYT0
names: Function
names: Subcellular Location Annotation
messages: May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation.
messages: cytoskeleton
messages: lamellipodium membrane

9606:F12
gene id: 9606:F12
uniprot id: P00748
uniprot id: Q8IZZ5
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peptidase S1 family.
messages: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa.
messages: Factor XII is activated by kallikrein in alpha-factor XIIa, which is further converted by trypsin into beta-factor XIIa. Alpha-factor XIIa is composed of an NH2-terminal heavy chain, called coagulation factor XIIa heavy chain, and a COOH-terminal light chain, called coagulation factor XIIa light chain, connected by a disulfide bond. Beta-factor XIIa is composed of 2 chains linked by a disulfide bond, an N-terminal nonapeptide, called beta-factor XIIa part 1, and coagulation factor XIIa light chain, also known in this context as beta-factor XIIa part 2.
messages: Interacts with HRG; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding, inhibits factor XII autoactivation and contact-initiated coagulation.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PIGZ
gene id: 9606:PIGZ
uniprot id: B4DL68
uniprot id: Q86VD9
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 22 family.
messages: Belongs to the glycosyltransferase 22 family. PIGZ subfamily.
messages: Endoplasmic reticulum membrane
messages: It is uncertain whether Met-1 or Met-32 is the initiator.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues.
messages: Membrane
messages: Widely expressed at low level, with highest level in brain and colon.

9606:DLGAP5
gene id: 9606:DLGAP5
uniprot id: Q15398
names: Caution
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundantly expressed in fetal liver. Expressed at lower levels in bone marrow, testis, colon, and placenta.
messages: Belongs to the SAPAP family.
messages: Cytoplasm
messages: Decreased phosphorylation levels are associated with the differentiation of intestinal epithelial cells.
messages: Elevated levels of expression detected in the G2/M phase of synchronized cultures of HeLa cells.
messages: Interacts with CDK1. Interacts with the C-terminal proline-rich region of FBXO7. Recruited by FBXO7 to a SCF (SKP1-CUL1-F-box) protein complex in a CDK1/Cyclin B-phosphorylation dependent manner. Interacts with CDH1.
messages: It was localized to the spindle and the spindle pole (PubMed:12527899) but was later found to be localized to the spindle and to be excluded from the spindle pole (PubMed:15561729).
messages: Nucleus
messages: Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells.
messages: Ubiquitinated, leading to its degradation.
messages: spindle

9606:RPS6KA2
gene id: 9606:RPS6KA2
uniprot id: B7Z3B5
uniprot id: Q15349
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by phosphorylation at Ser-218 by PDPK1. Autophosphorylated on Ser-377, as part of the activation process. May be phosphorylated at Thr-356 and Ser-360 by MAPK1/ERK2 and MAPK3/ERK1 (By similarity).
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily.
messages: Cytoplasm
messages: Forms a complex with either MAPK1/ERK2 or MAPK3/ERK1 in quiescent cells. Transiently dissociates following mitogenic stimulation (By similarity). Interacts with FBXO5; cooperate to induce the metaphase arrest of early blastomeres; increases and stabilizes interaction of FBXO5 with CDC20 (By similarity).
messages: N-terminal myristoylation results in an activated kinase in the absence of added growth factors.
messages: Nucleus
messages: Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of transcription factors, regulates translation, and mediates cellular proliferation, survival, and differentiation. May function as tumor suppressor in epithelial ovarian cancer cells.
messages: Upon extracellular signal or mitogen stimulation, phosphorylated at Thr-570 in the C-terminal kinase domain (CTKD) by MAPK1/ERK2 and MAPK3/ERK1. The activated CTKD then autophosphorylates Ser-377, allowing binding of PDPK1, which in turn phosphorylates Ser-218 in the N-terminal kinase domain (NTDK) leading to the full activation of the protein and subsequent phosphorylation of the substrates by the NTKD.
messages: Widely expressed with higher expression in lung, skeletal muscle, brain, uterus, ovary, thyroid and prostate.

9606:HELZ
gene id: 9606:HELZ
uniprot id: P42694
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DNA2/NAM7 helicase family.
messages: Expressed predominantly in thymus and brain. Expression is down-regulated in 28 of 95 tested cancer cell lines.
messages: Interacts with SMYD2 (By similarity). Interacts with POLR2A. Interacts with SMYD3; the interaction may bridge SMYD3 and RNA polymerase II.
messages: May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.
messages: Nucleus

9606:OR5M10
gene id: 9606:OR5M10
uniprot id: Q6IEU7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:KIF26A
gene id: 9606:KIF26A
uniprot id: Q9ULI4
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Atypical kinesin that plays a key role in enteric neuron development. Acts by repressing a cell growth signaling pathway in the enteric nervous system development, possibly via its interaction with GRB2 that prevents GRB2-binding to SHC, thereby attenating the GDNF-Ret signaling. Binds to microtubules but lacks microtubule-based motility due to the absence of ATPase activity (By similarity).
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF26 subfamily.
messages: In contrast to other kinesin-like proteins, residues required for ATPase activity are missing.
messages: Interacts with GRB2 (via SH2 domain).
messages: cytoskeleton

9606:CLEC12B
gene id: 9606:CLEC12B
uniprot id: A0A140VK10
uniprot id: Q2HXU8
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
messages: Detected in colon, heart, kidney, liver, lung, mammary gland, ovary, spleen and testis (PubMed:17562706). Expressed in melanocytes (at protein level) (PubMed:34310951).
messages: Homodimer. Interacts (via ITIM motif) with PTPN6 (PubMed:17562706). Interacts (via ITIM motif) with PTPN11; this interaction triggers dephosphorylation and activation of PTPN11 (PubMed:17562706, PubMed:34310951).
messages: Inhibitory receptor postulated to negatively regulate immune and non-immune functions (PubMed:17562706, PubMed:34310951). Upon phosphorylation, recruits SH2 domain-containing PTPN6 and PTPN11 phosphatases to its ITIM motif and antagonizes activation signals (PubMed:17562706, PubMed:34310951). Although it inhibits KLRK1/NKG2D-mediated signaling, it does not bind known ligands of KLRK1/NKG2D and therefore is not its inhibitory counterpart (PubMed:17562706). May limit activation of myeloid cell subsets in response to infection or tissue inflammation (PubMed:17562706). May protect target cells against natural killer cell-mediated lysis (PubMed:17562706). May negatively regulate cell cycle and differentiation of melanocytes via inactivation of STAT3 (PubMed:34310951).
messages: Membrane
messages: N-glycosylated.
messages: Up-regulated upon differentiation of monocytes to macrophages.

9606:SERPINE1
gene id: 9606:SERPINE1
uniprot id: A0A024QYT5
uniprot id: P05121
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the serpin family.
messages: Expressed in endothelial cells (PubMed:2430793, PubMed:3097076). Found in plasma, platelets, and hepatoma and fibrosarcoma cells.
messages: Forms a heterodimer with TMPRSS7 (PubMed:15853774). Interacts with VTN (PubMed:7522053). Binds LRP1B; binding is followed by internalization and degradation (PubMed:11384978). Interacts with PPP1CB (PubMed:28296156). In complex with PLAU/uPA, interacts with PLAUR/uPAR (PubMed:15053742). Interacts with SORL1 and LRP1, either alone or in complex with PLAU; these interactions are abolished in the presence of LRPAP1/RAP (PubMed:15053742). The ternary complex composed of PLAUR-PLAU-PAI1 also interacts with SORL1 (PubMed:15053742). Also interacts with SORL1, when complexed to PLAT/tPA (PubMed:15053742).
messages: Inactivated by proteolytic attack of the urokinase-type (u-PA) and the tissue-type (TPA), cleaving the 369-Arg-|-Met-370 bond.
messages: Secreted
messages: Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots (PubMed:8481516, PubMed:9207454, PubMed:17912461). As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration, independently of its role as protease inhibitor (PubMed:15001579, PubMed:9168821). It is required for stimulation of keratinocyte migration during cutaneous injury repair (PubMed:18386027). It is involved in cellular and replicative senescence (PubMed:16862142). Plays a role in alveolar type 2 cells senescence in the lung (By similarity). Is involved in the regulation of cementogenic differentiation of periodontal ligament stem cells, and regulates odontoblast differentiation and dentin formation during odontogenesis (PubMed:25808697, PubMed:27046084).
messages: The disease is caused by variants affecting the gene represented in this entry. A rare PAI-1D mutation resulting in a frameshift and protein truncation has been found in an Old Order Amish community. Homozygous mutation carriers suffer from episodes of major hemorrhage, while heterozygous carriers do not manifest abnormal bleeding (PubMed:9207454). Heterozygosity for the mutation is associated with longer leukocyte telomere length, lower fasting insulin levels, lower prevalence of diabetes mellitus, and a longer life span (PubMed:29152572).

9606:TRIM3
gene id: 9606:TRIM3
uniprot id: B7Z5Y8
uniprot id: O75382
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with myosin-Vb (MYO5B) and alpha-actinin-4 (ACTN4) (By similarity). Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3 (PubMed:15772161). Interacts with ZFYVE28/LST2 (PubMed:19460345). Interacts with KIF21B (By similarity).
messages: Belongs to the TRIM/RBCC family.
messages: Cytoplasm
messages: Early endosome
messages: Expressed in brain, heart, uterus and testis.
messages: Probably involved in vesicular trafficking via its association with the CART complex (PubMed:15772161). The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Positively regulates motility of microtubule-dependent motor protein KIF21B (By similarity).
messages: The interaction with MYO5B is dependent upon its NHL repeats, which form a beta-propeller (NHL) domain containing six blades.
messages: dendrite
messages: trans-Golgi network

9606:TULP2
gene id: 9606:TULP2
uniprot id: O00295
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TUB family.
messages: Cytoplasm
messages: Secreted
messages: Strongly expressed in testis. Also expressed in retina. Expressed in cancer cell lines.

9606:RPUSD2
gene id: 9606:RPUSD2
uniprot id: Q8IZ73
names: Function
names: Similarity
messages: Belongs to the pseudouridine synthase RluA family.
messages: Pseudouridine synthase that catalyzes pseudouridylation of mRNAs.

9606:FGD5
gene id: 9606:FGD5
uniprot id: A0A2X0SFF2
uniprot id: B7ZM68
uniprot id: Q6ZNL6
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape.
messages: Early endosome
messages: Endoplasmic reticulum
messages: Expressed in endothelial cells (at protein level).
messages: Golgi apparatus
messages: cytoskeleton
messages: ruffle membrane

9606:POTEB
gene id: 9606:POTEB
uniprot id: A0A0A6YYL3
names: Caution
names: Similarity
messages: Belongs to the POTE family.
messages: Maps to a duplicated region on chromosome 15; the gene is present in at least 3 almost identical copies.

9606:SAMD1
gene id: 9606:SAMD1
uniprot id: Q6SPF0
names: Caution
names: Domain
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Chromosome
messages: Due to its high GC content it turned out to be difficult to sequence the 5' end of the gene encoding the N-terminal proline-rich region of the protein and to unambiguously determine which sequence is correct. We display the sequence described in PubMed:16159594. This sequence fits better with orthologous sequences but is not consistent with the human reference genome sequence.
messages: Expressed in atherosclerotic lesions, not in normal intima. Expressed in foam cells.
messages: Expression is inhibited by miRNA MIR378C.
messages: Homopolymerize into a closed pentameric ring (PubMed:33980486). Interacts (via SAM domain) with L3MBTL3 (via SAM domain); the interaction mediates L3MBTL3 binding to chromatin (PubMed:33980486). Interacts (via WH domain) with KDM1A; the interaction modulates KDM1A function (PubMed:33980486).
messages: Nucleus
messages: Secreted
messages: Unmethylated CpG islands (CGIs)-binding protein which localizes to H3K4me3-decorated CGIs, where it acts as a transcriptional repressor (PubMed:33980486). Tethers L3MBTL3 to chromatin and interacts with the KDM1A histone demethylase complex to modulate H3K4me2 and H3K4me3 levels at CGIs (PubMed:33980486). Plays a role in atherogenesis by binding with LDL on cell surface and promoting LDL oxidation which leads to the formation of foam cell (PubMed:16159594, PubMed:34006929).
messages: Winged-helix (WH) domain directly recognizes and binds unmethylated CpG-containing DNA via simultaneous interactions with both the major and the minor groove of DNA.

9606:TMEM255B
gene id: 9606:TMEM255B
uniprot id: Q8WV15
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TMEM255 family.
messages: Membrane

9606:ERCC4
gene id: 9606:ERCC4
uniprot id: A0A1W1GSK9
uniprot id: A0A804HKF9
uniprot id: Q92889
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation at Lys-911 by KAT5 promotes interaction with ERCC1 by disrupting a salt bridge between Glu-907 and Lys-911, thereby exposing a second binding site for ERCC1 (PubMed:32034146). Deacetylated by SIRT1 (PubMed:32034146).
messages: Belongs to the XPF family.
messages: Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair.
messages: Chromosome
messages: Heterodimer composed of ERCC1 and ERCC4/XPF (PubMed:10413517, PubMed:25538220, PubMed:32034146, PubMed:16076955, PubMed:16338413). Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1-ERCC4/XPF complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair (PubMed:19596235, PubMed:19596236, PubMed:25538220, PubMed:19595721, PubMed:19595722).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:UCN
gene id: 9606:UCN
uniprot id: P55089
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH) (PubMed:8612563). Binds with high affinity to CRF receptor types 1, 2-alpha, and 2-beta (PubMed:8612563). Plays a role in the establishment of normal hearing thresholds (By similarity). Reduces food intake and regulates ghrelin levels in gastric body and plasma (By similarity).
messages: Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family.
messages: Interacts with CRHR1 and CRHR2 (via their N-terminal extracellular domain).
messages: Keratinocytes in epidermis and the outer and inner root sheaths of hair follicles, epithelium of sebaceous and sweat glands, erector pili muscle, cutaneous blood vessel walls, cutaneous nerves and dermal mononuclear cells (PubMed:10690896). Detected in plasma cells in the lamia propria in colon mucosa (PubMed:15531481) (at protein level). Expressed in pituitary and adrenal glands (PubMed:10690896). Detected in plasma cells in the lamia propria in colon mucosa (PubMed:15531481).
messages: Positive correlation between increased expression in colonic lamina propria and severity of inflammation in patients with ulcerative colitis.
messages: Secreted

9606:AANAT
gene id: 9606:AANAT
uniprot id: Q16613
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the acetyltransferase family. AANAT subfamily.
messages: Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N-acetylserotonin, the penultimate step in the synthesis of melatonin.
messages: Cytoplasm
messages: Highly expressed in pineal gland and at lower levels in the retina. Weak expression in several brain regions and in the pituitary gland.
messages: Monomer (By similarity). Interacts with several 14-3-3 proteins, including YWHAB, YWHAE, YWHAG and YWHAZ, preferentially when phosphorylated at Thr-31. Phosphorylation on Ser-205 also allows binding to YWHAZ, but with lower affinity. The interaction with YWHAZ considerably increases affinity for arylalkylamines and acetyl-CoA and protects the enzyme from dephosphorylation and proteasomal degradation (By similarity). It may also prevent thiol-dependent inactivation (By similarity).
messages: cAMP-dependent phosphorylation on both N-terminal Thr-31 and C-terminal Ser-205 regulates AANAT activity by promoting interaction with 14-3-3 proteins.

9606:TRIM66
gene id: 9606:TRIM66
uniprot id: O15016
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Can form homodimers and heterodimers. Interacts with CBX5, CBX1 and CBX3 via PxVxL motif (By similarity).
messages: May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity. May play a role as negative regulator of postmeiotic genes acting through CBX3 complex formation and centromere association (By similarity).
messages: Nucleus

9606:OR13C5
gene id: 9606:OR13C5
uniprot id: Q8NGS8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:MMP9
gene id: 9606:MMP9
uniprot id: P14780
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Expression induced by M.bovis MPB83 (at protein level) (PubMed:20800577).
messages: (Microbial infection) Interacts with Staphylococcus aureus protein SSL5; this interaction inhibits MMP9 activity.
messages: Activated by 4-aminophenylmercuric acetate and phorbol ester. Up-regulated by ARHGEF4, SPATA13 and APC via the JNK signaling pathway in colorectal tumor cells.
messages: Belongs to the peptidase M10A family.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Binds 3 Ca(2+) ions per subunit.
messages: Detected in neutrophils (at protein level) (PubMed:7683678). Produced by normal alveolar macrophages and granulocytes.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Exists as monomer or homodimer; disulfide-linked (PubMed:1281792, PubMed:7683678). Exists also as heterodimer with LCN2 (PubMed:1281792, PubMed:7683678). Macrophages and transformed cell lines produce only the monomeric form. Interacts with ECM1 (PubMed:16512877).
messages: In the arthritis patient this enzyme might contribute to the pathogenesis of joint destruction and might constitute a useful marker of disease status.
messages: Inhibited by histatin-3 1/24 (histatin-5). Inhibited by ECM1.
messages: Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration (PubMed:2551898, PubMed:1480034, PubMed:12879005). Could play a role in bone osteoclastic resorption (By similarity). Cleaves KiSS1 at a Gly-|-Leu bond (PubMed:12879005). Cleaves NINJ1 to generate the Secreted ninjurin-1 form (PubMed:32883094). Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments (PubMed:1480034). Degrades fibronectin but not laminin or Pz-peptide.
messages: N- and O-glycosylated.
messages: Processing of the precursor yields different active forms of 64, 67 and 82 kDa. Sequentially processing by MMP3 yields the 82 kDa matrix metalloproteinase-9.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular matrix

9606:PALS2
gene id: 9606:PALS2
uniprot id: A0A024RA25
uniprot id: Q9NZW5
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundant in testis, brain, and kidney with lower levels detectable in other tissues.
messages: Belongs to the MAGUK family.
messages: Interacts with CADM1 (By similarity). Interacts with the LIN7 proteins.
messages: Membrane

9606:GABRR1
gene id: 9606:GABRR1
uniprot id: P24046
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR1 sub-subfamily.
messages: Cell membrane
messages: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could play a role in retinal neurotransmission.
messages: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 (By similarity).
messages: Highly expressed in the retina and in a lesser extent in brain, lung and thymus.
messages: Postsynaptic cell membrane

9606:GGT1
gene id: 9606:GGT1
uniprot id: A0A140VJJ9
uniprot id: P19440
names: Activity Regulation
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by autocatalytic cleavage (PubMed:23682772). Inhibited by serine-borate (PubMed:21447318).
messages: Belongs to the gamma-glutamyltransferase family.
messages: Cell membrane
messages: Chloride ions bound in the active site cavity may contribute to stabilize the protein fold.
messages: Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.
messages: Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates (such as maresin conjugate (13R)-S-glutathionyl-(14S)-hydroxy-(4Z,7Z,9E,11E,16Z,19Z)-docosahexaenoate, MCTR1) and other gamma-glutamyl compounds (such as leukotriene C4, LTC4) (PubMed:17924658, PubMed:21447318, PubMed:27791009). The metabolism of glutathione by GGT1 releases free glutamate and the dipeptide cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases (PubMed:27791009). In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound (PubMed:17924658, PubMed:7673200, PubMed:7759490, PubMed:8095045, PubMed:8827453, PubMed:21447318). Contributes to cysteine homeostasis, glutathione homeostasis and in the conversion of the leukotriene LTC4 to LTD4.
messages: Cleaves the gamma-glutamyl peptide bond of glutathione and glutathione conjugates.
messages: Cys-454 was thought to bind the gamma-glutamyl moiety, but mutagenesis of this residue had no effect on activity.
messages: Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein.
messages: Heterodimer composed of the light and heavy chains. The active site is located in the light chain.
messages: Lung-specific.
messages: Membrane
messages: N-glycosylated on both chains. Contains hexoses, hexosamines and sialic acid residues. Glycosylation profiles tested in kidney and liver tissues reveal the presence of tissue-specific and site-specific glycan composition, despite the overlap in composition among the N-glycans. A total of 36 glycan compositions, with 40 unique structures are observed. Up to 15 different glycans are observed at a single site, with site-specific variation in glycan composition. The difference in glycosylation profiles in the 2 tissues do not affect the enzyme activity.
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform 1.
messages: Seems to be inactive.
messages: The disease is caused by variants affecting the gene represented in this entry. A large homozygous deletion that removes several exons of all isoforms of GGT1 has been found in one family affected by glutathionuria.

9606:CLUL1
gene id: 9606:CLUL1
uniprot id: B7Z5R4
uniprot id: F5GWQ8
uniprot id: Q15846
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the clusterin family.
messages: Secreted

9606:ZAR1L
gene id: 9606:ZAR1L
uniprot id: A6NP61
names: Similarity
messages: Belongs to the ZAR1 family.

9606:LRRN4
gene id: 9606:LRRN4
uniprot id: Q8WUT4
names: Function
names: Subcellular Location Annotation
messages: May play an important role in hippocampus-dependent long-lasting memory.
messages: Membrane

9606:SLC15A3
gene id: 9606:SLC15A3
uniprot id: A0A7P0T8H0
uniprot id: Q8IY34
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the major facilitator superfamily. Proton-dependent oligopeptide transporter (POT/PTR) (TC 2.A.17) family.
messages: Endosome membrane
messages: Lysosome membrane
messages: Proton-coupled amino-acid transporter that transports free histidine and certain di- and tripeptides, and is involved in innate immune response (By similarity). Also able to transport carnosine (PubMed:31073693). Involved in the detection of microbial pathogens by toll-like receptors (TLRs) and NOD-like receptors (NLRs), probably by mediating transport of bacterial peptidoglycans across the endolysosomal membrane: catalyzes the transport of certain bacterial peptidoglycans, such as muramyl dipeptide (MDP), the NOD2 ligand (By similarity).

9606:EPHA10
gene id: 9606:EPHA10
uniprot id: Q5JZY3
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
messages: Cell membrane
messages: Mainly expressed in testis.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5.
messages: Secreted
messages: The protein kinase domain is predicted to be catalytically inactive.

9606:CFAP276
gene id: 9606:CFAP276
uniprot id: Q5T5A4
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: CFAP276 mutations may be the cause of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Intermediate forms of Charcot-Marie-Tooth disease exist and are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
messages: Cytoplasm
messages: Expressed in cerebrum, cerebellum, gastrocnemius muscle, spinal cord and lung tissues.
messages: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (By similarity). May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis (PubMed:31199454).
messages: cilium axoneme
messages: cytoskeleton

9606:DMBT1
gene id: 9606:DMBT1
uniprot id: A0A590UJ76
uniprot id: Q9UGM3
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HIV-1 glycoprotein 120.
messages: (Microbial infection) Interacts with S.aureus SraP; the interaction is inhibited by N-acetylneuraminic acid (PubMed:23439307).
messages: Belongs to the DMBT1 family.
messages: Expressed in fetal lung, intestine and skin. Secreted to the extracellular matrix (ECM) in certain fetal epithelia.
messages: Highly N- and O-glycosylated. The O-glycans are heavily sulfated (By similarity).
messages: Highly expressed in alveolar and macrophage tissues. In some macrophages, expression is seen on the membrane, and in other macrophages, strongly expressed in the phagosome/phagolysosome compartments. Expressed in lung, trachea, salivary gland, small intestine and stomach. In pancreas, expressed in certain cells of the islets of Langerhans. In digestive tract, confined to tissues with large epithelial surfaces. In intestinal tissue, moderately expressed in epithelial cells of the midcrypts and the crypt base. Expression is significantly elevated in intestinal tissue from patients with inflammatory bowel disease (IBD), particularly in surface epithelial and Paneth cells, but not in IBD patients with mutant NOD2. Present in crypt bases of the duodenum, in crypt tops of the colon, and in collecting ducts of the cortical kidney. Expressed in stratified squamous epithelium of vagina and in outer luminar surface and basilar region of columnar epithelial cells in cervix (at protein level). Isoform 1 is secreted to the lumen of the respiratory tract.
messages: Interacts with LGALS3 (By similarity). Binds SFTPD and SPAR in a calcium-dependent manner.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the hepatic lineage. Required for terminal differentiation of columnar epithelial cells during early embryogenesis. May function as a binding protein in saliva for the regulation of taste sensation. Binds to HIV-1 envelope protein and has been shown to both inhibit and facilitate viral transmission. Displays a broad calcium-dependent binding spectrum against both Gram-positive and Gram-negative bacteria, suggesting a role in defense against bacterial pathogens. Binds to a range of poly-sulfated and poly-phosphorylated ligands which may explain its broad bacterial-binding specificity. Inhibits cytoinvasion of S.enterica. Associates with the actin cytoskeleton and is involved in its remodeling during regulated exocytosis. Interacts with pancreatic zymogens in a pH-dependent manner and may act as a Golgi cargo receptor in the regulated secretory pathway of the pancreatic acinar cell.
messages: Secreted
messages: The SRCR domains mediate binding to bacteria. The minimal bacterial-binding site is an 11-residue repeat of GRVEVLYRGSW where VEVL and W are critical residues.
messages: The gene represented in this entry is involved in disease pathogenesis. Homozygous deletions may be the predominant mechanism of DMBT1 inactivation playing a role in carcinogenesis. DMBT1 is deleted in medulloblastoma and glioblastoma cell lines; point mutations have also been reported in patients with glioma. A loss or reduction of DMBT1 expression has been seen in esophageal, gastric, lung and colorectal carcinomas as well.
messages: The number of SRCR and SRCR-interspersed domains is polymorphic in a variety of tumors and may represent the major site of alterations in cancer.
messages: Up-regulated in intestinal epithelial cells in response to pro-inflammatory stimuli including TNF and bacterial lipopolysaccharides (LPS).

9606:ANKRD1
gene id: 9606:ANKRD1
uniprot id: Q15327
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By TNF, IL1A/interleukin-1 alpha and parthenolide.
messages: Interacts with YBX1 (By similarity). Interacts with TTN/titin.
messages: Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells.
messages: May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells.
messages: Nucleus

9606:CATSPER4
gene id: 9606:CATSPER4
uniprot id: Q7RTX7
names: Activity Regulation
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
messages: Component of the CatSper complex or CatSpermasome composed of the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE, CATSPERZ, C2CD6/CATSPERT, TMEM249, TMEM262 and EFCAB9 (By similarity). HSPA1 may be an additional auxiliary complex member (By similarity). The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel. The auxiliary CATSPERB, CATSPERG, CATSPERD and CATSPERE subunits form a pavilion-like structure over the pore which stabilizes the complex through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively (By similarity). TMEM262/CATSPERH interacts with CATSPERB, further stabilizing the complex. C2CD6/CATSPERT interacts at least with CATSPERD and is required for targeting the CatSper complex in the flagellar membrane (By similarity).
messages: In mouse, Slco6c1 is an additional auxiliary subunit of the CatSper complex. It is unclear if the related SLCO6A1 protein performs the same role in non-rodent species.
messages: Testis-specific.
messages: The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed:21412338, PubMed:21412339, PubMed:26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed:26989199). Indirect activation by progesterone takes place via the following mechanism: progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed:26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed:21412338, PubMed:21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed:21412338, PubMed:21412339).
messages: Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.
messages: flagellum membrane

9606:BCO2
gene id: 9606:BCO2
uniprot id: B2RCV8
uniprot id: Q9BYV7
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the carotenoid oxygenase family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Broad specificity mitochondrial dioxygenase that mediates the asymmetric oxidative cleavage of carotenoids. Cleaves carotenes (pure hydrocarbon carotenoids) such as all-trans-beta-carotene and lycopene as well as xanthophylls (oxygenated carotenoids) such as zeaxanthin, lutein and beta-cryptoxanthin at both the 9,10 and the 9',10' carbon-carbon double bond. Through its function in carotenoids metabolism regulates oxidative stress and the production of important signaling molecules.
messages: Highly expressed in retinal pigment epithelium. Also expressed in stomach, small intestine, liver, testis, kidney, adrenal gland, pancreas, heart, skeletal muscle and prostate (at protein level).
messages: Mitochondrion

9606:LGALS3
gene id: 9606:LGALS3
uniprot id: A0A024R693
uniprot id: P17931
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A major expression is found in the colonic epithelium. It is also abundant in the activated macrophages. Expressed in fetal membranes.
messages: Cytoplasm
messages: Galactose-specific lectin which binds IgE. May mediate with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (By similarity). In the nucleus: acts as a pre-mRNA splicing factor. Involved in acute inflammatory responses including neutrophil activation and adhesion, chemoattraction of monocytes macrophages, opsonization of apoptotic neutrophils, and activation of mast cells. Together with TRIM16, coordinates the recognition of membrane damage with mobilization of the core autophagy regulators ATG16L1 and BECN1 in response to damaged endomembranes.
messages: Nucleus
messages: Probably forms homo- or heterodimers. Interacts with DMBT1 (By similarity). Interacts with CD6 and ALCAM (PubMed:24945728). Forms a complex with the ITGA3, ITGB1 and CSPG4. Interacts with LGALS3BP, LYPD3, ZFTRAF1 and UACA. Interacts with TRIM16; this interaction mediates autophagy of damage endomembranes. Interacts with cargo receptor TMED10; the interaction mediates the translocation from the cytoplasm into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) and thereby secretion (PubMed:32272059).
messages: Secreted

9606:DMRTA2
gene id: 9606:DMRTA2
uniprot id: Q96SC8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the DMRT family.
messages: Expressed in testis.
messages: May be involved in sexual development.
messages: Nucleus

9606:SHCBP1L
gene id: 9606:SHCBP1L
uniprot id: Q9BZQ2
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in spermatocytes and elongating spermatids inside the seminiferous tubules (at protein level) (PubMed:24557841). Testis-specific (PubMed:11318611, PubMed:24557841).
messages: Interacts with HSPA2; this interaction may promote the recruitment of HSPA2 to the spindle.
messages: Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells.
messages: spindle

9606:MAP2K2
gene id: 9606:MAP2K2
uniprot id: P36507
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Acetylation of Ser-222 and Ser-226 by Yersinia YopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway.
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily.
messages: Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126).
messages: Cytoplasm
messages: Interacts with MORG1 (By similarity). Interacts with SGK1 (PubMed:19447520). Interacts with KSR1 (PubMed:10409742). Interacts with KSR1 and BRAF; the interaction with KSR1 mediates KSR1-BRAF dimerization (PubMed:29433126). Interacts with GLS (PubMed:22538822).
messages: MAPKK is itself dependent on Ser/Thr phosphorylation for activity catalyzed by MAP kinase kinase kinases (RAF or MEKK1). Phosphorylated by MAP2K1/MEK1 (By similarity).
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:LYL1
gene id: 9606:LYL1
uniprot id: P12980
names: Disease Annotation
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving LYL1 may be a cause of a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(7;19)(q35;p13) with TCRB.
messages: Efficient DNA binding requires dimerization with another bHLH protein.
messages: Nucleus

9606:ZNF112
gene id: 9606:ZNF112
uniprot id: Q9UJU3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:PODXL
gene id: 9606:PODXL
uniprot id: O00592
uniprot id: Q96N83
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Belongs to the podocalyxin family.
messages: Both the O-glycan-rich domain of the extracellular domain and the C-terminus PDZ-binding motif (DTHL) in the cytoplasmic tail harbor an apical sorting signal. The cytoplasmic domain is necessary for the apical membrane targeting and renal tubulogenesis. The cytoplasmic C-terminus PDZ-binding motif (DTHL) is essential for interaction with SLC9A3R1 and for targeting SLC9A3R1 to the apical cell membrane. The extracellular domain is necessary for microvillus formation (By similarity). The large highly anionic extracellular domain allows to maintain open filtration pathways between neighboring podocyte foot processes.
messages: Cell membrane
messages: Glomerular epithelium cell (podocyte).
messages: Involved in the regulation of both adhesion and cell morphology and cancer progression. Functions as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Acts as a pro-adhesive molecule, enhancing the adherence of cells to immobilized ligands, increasing the rate of migration and cell-cell contacts in an integrin-dependent manner. Induces the formation of apical actin-dependent microvilli. Involved in the formation of a preapical plasma membrane subdomain to set up initial epithelial polarization and the apical lumen formation during renal tubulogenesis. Plays a role in cancer development and aggressiveness by inducing cell migration and invasion through its interaction with the actin-binding protein EZR. Affects EZR-dependent signaling events, leading to increased activities of the MAPK and PI3K pathways in cancer cells.
messages: Membrane
messages: Membrane raft
messages: Monomer; when associated with the membrane raft. Oligomer; when integrated in the apical membrane. Interacts (via the C-terminal PDZ-binding motif DTHL) with SLC9A3R1 (via the PDZ domains); the interaction is not detected in glomerular epithelium cells, take place early in the secretory pathway and is necessary for its apical membrane sorting. Found in a complex with EZR, PODXL and SLC9A3R2. Associates with the actin cytoskeleton through complex formation with EZR and SLC9A3R2. Interacts (via the C-terminal PDZ-binding motif DTHL) with SLC9A3R2 (via the PDZ 1 domain); interaction is detected in glomerular epithelium cells (By similarity). Interacts with EZR.
messages: N- and O-linked glycosylated. Sialoglycoprotein (By similarity).
messages: filopodium
messages: lamellipodium
messages: microvillus
messages: ruffle

9606:CD38
gene id: 9606:CD38
uniprot id: B4E006
uniprot id: P28907
names: Activity Regulation
names: Developmental Stage
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: ATP inhibits the hydrolyzing activity.
messages: Belongs to the ADP-ribosyl cyclase family.
messages: Expressed at high levels in pancreas, liver, kidney, brain, testis, ovary, placenta, malignant lymphoma and neuroblastoma.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Membrane
messages: Preferentially expressed at both early and late stages of the B and T-cell maturation. It is also detected on erythroid and myeloid progenitors in bone marrow, where the level of surface expression was shown to decrease during differentiation of blast-forming unit E to colony-forming unit E.
messages: Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system.

9606:TRAPPC14
gene id: 9606:TRAPPC14
uniprot id: Q8WVR3
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Broadly expressed. High levels in brain, cerebellum, testis and whole blood.
messages: Component of the multisubunit TRAPP II complex, which includes at least TRAPPC1, TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC4, TRAPPC5, TRAPPC6A/B, TRAPPC9, TRAPPC10 and TRAPPC14. TRAPPC9, TRAPPC10 and TRAPPC14 are specific subunits of the TRAPP II complex (PubMed:31467083). Interacts with alpha-tubulin during mitosis (PubMed:30715179). Interacts with RAB3IP (via the N-terminal region); this interaction mediates RAB3IP association with the TRAPP II complex (PubMed:31467083). Interacts with TRAPPC10 (PubMed:31467083). Interacts with FBF1 (PubMed:31467083).
messages: Cytoplasm
messages: Midbody
messages: Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether (PubMed:31467083, PubMed:30715179). TRAPP II complex has also GEF activity toward RAB1A (By similarity). TRAPPC14 is dispensable for TRAPPII complex integrity but mediates RAB3IP preciliary vesicle trafficking to the mother centriole during ciliogenesis (PubMed:31467083). Modulates YAP1 activity as transcriptional regulator (PubMed:30447097).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Vesicle
messages: spindle

9606:RTN4RL2
gene id: 9606:RTN4RL2
uniprot id: Q86UN3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Nogo receptor family.
messages: Cell membrane
messages: Cell surface receptor that plays a functionally redundant role in the inhibition of neurite outgrowth mediated by MAG (By similarity). Plays a functionally redundant role in postnatal brain development. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Does not seem to play a significant role in regulating axon regeneration in the adult central nervous system. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG (By similarity). Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:22325200).
messages: Highly expressed in brain and liver. Expressed at lower levels in kidney, mammary gland, placenta, skeletal muscle, spleen and thyroid.
messages: Interaction with MAG is controversial, and may be indirect (Probable). Does not interact with MAG, OMG and RTN4 (PubMed:12839991). Interacts with MAG (By similarity).
messages: Membrane raft
messages: N-glycosylated.
messages: Perikaryon
messages: Undergoes zinc metalloproteinase-mediated ectodomain shedding in neuroblastoma cells; is released both as a full-length ectodomain and an N-terminal fragment containing the leucine-rich repeat (LRR) region of the protein.
messages: axon
messages: dendrite

9606:ZFYVE19
gene id: 9606:ZFYVE19
uniprot id: Q96K21
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving ZFYVE19 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with KMT2A/MLL1 (PubMed:12618766).
messages: Cleavage furrow
messages: Detected in brain, heart, skeletal muscle and kidney (PubMed:12618766). Expressed in the liver (at protein level) (PubMed:12618766, PubMed:32737136).
messages: Interacts (via MIM1-B) with VPS4A; interaction takes place at the midbody ring following cytokinesis checkpoint activation.
messages: It is uncertain whether Met-1 or Met-76 is the initiator. In the liver, the main translation initiation site may be Met-76.
messages: Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ZFYVE19/ANCHR and VPS4 and subsequent abscission.
messages: Midbody ring
messages: Phosphorylated in vitro at Ser-22 by AURKB; however, phosphorylation at this site could not be confirmed in vivo.
messages: The FYVE-type zinc finger mediates binding to phosphatidylinositol-3-phosphate (PtdIns(3)P).
messages: The MIM1-B motif mediates interaction with VPS4A.
messages: The disease is caused by variants affecting the gene represented in this entry. Some evidences point to Met-76 as the main translation initiation site. In this context, PFIC9-associated variant p.M76V can disrupt translation initiation.
messages: centrosome

9606:ACTA2
gene id: 9606:ACTA2
uniprot id: D2JYH4
uniprot id: P62736
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
messages: ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease.
messages: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
messages: Belongs to the actin family.
messages: In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.
messages: Methylated at His-75 by SETD3.
messages: Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
messages: Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.
messages: Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated in response to enterovirus 71 (EV71) infection.
messages: cytoskeleton

9606:DDIT4
gene id: 9606:DDIT4
uniprot id: A0A024QZQ6
uniprot id: Q9NX09
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DDIT4 family.
messages: Broadly expressed, with lowest levels in brain, skeletal muscle and intestine. Up-regulated in substantia nigra neurons from Parkinson disease patients (at protein level).
messages: Mitochondrion
messages: Monomer. Interacts with BTRC. Identified in a complex with CUL4A, DDB1 and BTRC. Interacts with TXNIP; this inhibits the proteasomal degradation of DDIT4.
messages: Phosphorylated by GSK3B; this promotes proteasomal degradation.
messages: Polyubiquitinated by a DCX (DDB1-CUL4A-RBX1) E3 ubiquitin-protein ligase complex with BTRC as substrate-recognition component, leading to its proteasomal degradation.
messages: Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell type; it mediates mTORC1 inhibition in fibroblasts and thymocytes, but not in hepatocytes (By similarity). Required for mTORC1-mediated defense against viral protein synthesis and virus replication (By similarity). Inhibits neuronal differentiation and neurite outgrowth mediated by NGF via its effect on mTORC1 activity. Required for normal neuron migration during embryonic brain development. Plays a role in neuronal cell death.
messages: Up-regulated in fibroblasts upon ionizing radiation, via a TP53-dependent pathway. Up-regulated by TP63 in primary keratinocytes, and down-regulated during keratinocyte differentiation. Up-regulated upon DNA alkylation. Up-regulated by amyloid beta-peptide and retinoic acid. Up-regulated by hypoxia, via a PI3K and HIF1A-dependent but TP53/TP63-independent mechanism (at protein level).
messages: cytosol

9606:S100B
gene id: 9606:S100B
uniprot id: A0A0S2Z4C5
uniprot id: P04271
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Although predominant among the water-soluble brain proteins, S100 is also found in a variety of other tissues.
messages: Belongs to the S-100 family.
messages: Cytoplasm
messages: Dimer of either two alpha chains, or two beta chains, or one alpha and one beta chain. The S100B dimer binds two molecules of STK38. Interacts with CACYBP in a calcium-dependent manner. Interacts with ATAD3A; this interaction probably occurs in the cytosol prior to ATAD3A mitochondrial targeting. Interacts with S100A6. The S100B dimer interacts with two molecules of CAPZA1. Interacts with AGER. Interacts with PPP5C (via TPR repeats); the interaction is calcium-dependent and modulates PPP5C activity. Interacts with TPPP; this interaction inhibits TPPP dimerization (PubMed:33831707).
messages: In addition to metal-ion binding, this protein is involved with the regulation of protein phosphorylation in brain tissue.
messages: Nucleus
messages: Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling. Could assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization. May mediate calcium-dependent regulation on many physiological processes by interacting with other proteins, such as TPR-containing proteins, and modulating their activity.

9606:CPSF7
gene id: 9606:CPSF7
uniprot id: B4DGF8
uniprot id: Q8N684
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Asymmetrically dimethylated on arginine residues by PRMT1 (PubMed:20562214).
messages: Belongs to the RRM CPSF6/7 family.
messages: Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:8626397, PubMed:17024186, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:8626397, PubMed:17024186). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation (PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:20695905, PubMed:29276085). CPSF7 activates directly the mRNA 3'-processing machinery (PubMed:29276085). Binds to pA signals in RNA substrates (PubMed:8626397, PubMed:17024186).
messages: Component of the cleavage factor Im (CFIm) complex which is a heterotetramer composed of two subunits of NUDT21/CPSF5 and two subunits of CPSF6 or CPSF7 or a heterodimer of CPSF6 and CPSF7 (PubMed:8626397, PubMed:20695905, PubMed:23187700, Ref.22). The cleavage factor Im (CFIm) complex associates with the CPSF and CSTF complexes to promote the assembly of the core mRNA 3'-processing machinery (PubMed:29276085). Interacts with NUDT21/CPSF5 (PubMed:29276085). Interacts (via Arg/Ser-rich domain) with FIP1L1 (preferentially via unphosphorylated form and Arg/Glu/Asp-rich region); this interaction mediates, at least in part, the interaction between the CFIm and CPSF complexes and may be inhibited by CPSF7 hyper-phosphorylation (PubMed:29276085).
messages: Contains an Arg/Ser-rich domain composed of arginine-serine dipeptide repeats within the C-terminal region that is necessary and sufficient for activating mRNA 3'-processing (PubMed:29276085).
messages: Cytoplasm
messages: Nucleus
messages: Phosphorylated (PubMed:29276085).

9606:OLR1
gene id: 9606:OLR1
uniprot id: A0A024RAU0
uniprot id: P78380
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Binds to the head and beginning of the coiled stalk of N.meningitidis adhesin A (nadA) variant 3; binding can be abrogated by monoclonal antibodies against the specific regions of NadA. Binding occurs in protein microarrays, in solution and when LOX-1 is expressed on the cell surface.
messages: (Microbial infection) May serve as a receptor for adhesin A variant 3 (nadA) of N.meningitidis.
messages: By inflammatory cytokines such as TNF, IFNG/IFN-gamma, IL6/interleukin-6 and by pathological conditions such as hyperlipidemia, hypertension and diabetes mellitus. Up-regulated in atherosclerotic lesions, by oxLDL, reactive oxygen species and fluid shear stress, suggesting that it may participate in amplification of oxLDL-induced vascular dysfunction.
messages: Cell membrane
messages: Expressed at high level in endothelial cells and vascular-rich organs such as placenta, lung, liver and brain, aortic intima, bone marrow, spinal cord and substantia nigra. Also expressed at the surface of dendritic cells. Widely expressed at intermediate and low level.
messages: Homodimer; disulfide-linked. May form a hexamer composed of 3 homodimers. Interacts with HSP70.
messages: Independent association genetic studies have implicated OLR1 gene variants in myocardial infarction susceptibility.
messages: Membrane
messages: Membrane raft
messages: N-glycosylated.
messages: OLR1 may be involved in Alzheimer disease (AD). Involvement in AD is however unclear: according to some authors (PubMed:12354387, PubMed:12810610 and PubMed:15976314), variations in OLR1 modify the risk of AD, while according to others (PubMed:15000751 and PubMed:15060104) they do not.
messages: Receptor that mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. OxLDL is a marker of atherosclerosis that induces vascular endothelial cell activation and dysfunction, resulting in pro-inflammatory responses, pro-oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro-atherogenic cellular responses including a reduction of nitric oxide (NO) release, monocyte adhesion and apoptosis. In addition to binding oxLDL, it acts as a receptor for the HSP70 protein involved in antigen cross-presentation to naive T-cells in dendritic cells, thereby participating in cell-mediated antigen cross-presentation. Also involved in inflammatory process, by acting as a leukocyte-adhesion molecule at the vascular interface in endotoxin-induced inflammation. Also acts as a receptor for advanced glycation end (AGE) products, activated platelets, monocytes, apoptotic cells and both Gram-negative and Gram-positive bacteria.
messages: Secreted
messages: The C-type lectin domain mediates the recognition and binding of oxLDL.
messages: The cytoplasmic region is required for subcellular sorting on the cell surface.
messages: The intrachain disulfide-bonds prevent N-glycosylation at some sites.

9606:ATG2A
gene id: 9606:ATG2A
uniprot id: Q2TAZ0
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ATG2 family.
messages: Endoplasmic reticulum membrane
messages: Interacts with ATG9A (via C-terminus) (PubMed:32610138, PubMed:33106659, PubMed:33850023). Interacts (via WIPI-interacting region) with WDR45B/WIPI3 (PubMed:32483132). Interacts (via WIPI-interacting region) with WDR45/WIPI4 (PubMed:28820312, PubMed:32483132). Interacts with TMEM41B (PubMed:33850023). Interacts with VMP1 (PubMed:33850023).
messages: Lipid droplet
messages: Lipid transfer protein involved in autophagosome assembly (PubMed:28561066, PubMed:31271352, PubMed:30952800). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and mediates direct lipid transfer from ER to IM for IM expansion (PubMed:31271352, PubMed:30952800). Binds to the ER exit site (ERES), which is the membrane source for autophagosome formation, and extracts phospholipids from the membrane source and transfers them to ATG9 (ATG9A or ATG9B) to the IM for membrane expansion (PubMed:31271352, PubMed:30952800). Lipid transfer activity is enhanced by WIPI1 and WDR45/WIPI4, which promote ATG2A-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes (PubMed:31271352). Also regulates lipid droplets morphology and distribution within the cell (PubMed:22219374, PubMed:28561066).
messages: Preautophagosomal structure membrane
messages: The chorein N-terminal domain mediates lipid transfer activity.

9606:HAVCR1
gene id: 9606:HAVCR1
uniprot id: Q96D42
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for Dengue virus by binding exposed phosphatidyl-serine at the surface of virion membrane (PubMed:23084921). TIM1 and Dengue virus are co-internalized during virus entry (PubMed:29742433).
messages: (Microbial infection) Acts as a receptor for Ebolavirus and Marburg virus by binding exposed phosphatidyl-serine at the surface of virion membrane (PubMed:21536871). Serves as a dual receptor for Ebolavirus by also interacting with envelope glycoprotein GP (PubMed:26487564).
messages: (Microbial infection) Acts as a receptor for Hepatitis A virus.
messages: (Microbial infection) Acts as a receptor for Zika virus by binding to envelope protein E.
messages: (Microbial infection) Interacts with Ebolavirus envelope glycoprotein GP.
messages: (Microbial infection) Interacts with Zika virus envelope protein E.
messages: (Microbial infection) Interacts with hepatitis A virus capsid proteins.
messages: (Microbial infection) Plays a positive role in Chikungunya virus cell entry.
messages: (Microbial infection) Ubiquitination is required for Dengue virus endocytosis.
messages: Belongs to the immunoglobulin superfamily. TIM family.
messages: Cell membrane
messages: Interacts with STAM (PubMed:29742433). Interacts with SELPLG (PubMed:24703780).
messages: Phosphatidylserine receptor that plays an important functional role in regulatory B-cells homeostasis including generation, expansion and suppressor functions (By similarity). As P-selectin/SELPLG ligand, plays a specialized role in activated but not naive T-cell trafficking during inflammatory responses (PubMed:24703780). Controls thereby T-cell accumulation in the inflamed central nervous system (CNS) and the induction of autoimmune disease (PubMed:24703780). Regulates also expression of various anti-inflammatory cytokines and co-inhibitory ligands including IL10 (By similarity). Acts as regulator of T-cell proliferation (By similarity). May play a role in kidney injury and repair (PubMed:17471468).
messages: The extracellular part of the protein can be cleaved and detected in urine and is in correlation with the expression in the kidney.
messages: The region containing tandem repeats is polymorphic and the sequence shown here corresponds to the most common allele (PubMed:14534576). An association between hepatitis A virus (HAV) infection and atopic diseases has been observed in individuals with that allele (PubMed:14534576). Allelic variation does not affect HAV-infection rates in Caucasians, Asians and African Americans (PubMed:14534576).
messages: Ubiquitinated at two lysine residues Lys-338 and Lys-346 on its cytoplasmic domain. Ubiquitination promotes receptor endocytosis and target receptors for lysosomal degradation and termination of receptor signaling.
messages: Up-regulated in the kidney in renal diseases (at protein level).
messages: Widely expressed, with highest levels in kidney and testis. Expressed by activated CD4+ T-cells during the development of helper T-cells responses.

9606:CDC42BPG
gene id: 9606:CDC42BPG
uniprot id: Q6DT37
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.
messages: Cytoplasm
messages: Expressed in heart and skeletal muscle.
messages: Homodimer and homotetramer via the coiled coil regions. Interacts tightly with GTP-bound but not GDP-bound CDC42 (By similarity).
messages: Maintained in an inactive, closed conformation by an interaction between the kinase domain and the negative autoregulatory C-terminal coiled-coil region. Agonist binding to the phorbol ester binding site disrupts this, releasing the kinase domain to allow N-terminus-mediated dimerization and kinase activation by transautophosphorylation (By similarity).
messages: May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity).

9606:NIPAL2
gene id: 9606:NIPAL2
uniprot id: Q9H841
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the NIPA family.
messages: Membrane

9606:CCDC59
gene id: 9606:CCDC59
uniprot id: Q9P031
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TAP26 family.
messages: Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities.
messages: Interacts with NKX2-1.
messages: Nucleus
messages: Ubiquitously expressed. In lung, expression is restricted to the alveolar epithelial cells.

9606:PKN3
gene id: 9606:PKN3
uniprot id: A0A024R8D6
uniprot id: Q6P5Z2
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Autophosphorylated.
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.
messages: Contributes to invasiveness in malignant prostate cancer.
messages: Expressed in prostate tumors and various cancer cell lines. Not expressed in adult tissues.
messages: Nucleus
messages: The C1 domain does not bind the diacylglycerol (DAG).
messages: Two specific sites, Thr-718 (activation loop of the kinase domain) and Thr-860 (turn motif), need to be phosphorylated for its full activation.
messages: perinuclear region

9606:PLEKHM1
gene id: 9606:PLEKHM1
uniprot id: Q9Y4G2
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7.
messages: (Microbial infection) Interacts with Salmonella typhimurium sifA.
messages: Acts as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Acts as a dual effector of RAB7A and ARL8B that simultaneously binds these GTPases, bringing about clustering and fusion of late endosomes and lysosomes (PubMed:25498145, PubMed:28325809). Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Interaction with Arl8b is a crucial factor in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). Involved in bone resorption (By similarity).
messages: Autolysosome membrane
messages: Endosome membrane
messages: Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart, skeletal muscle, pancreas and small intestine. Predominantly expressed in the breast carcinoma cell line MCF-7.
messages: Interacts (via N- and C-terminus) with RAB7A (GTP-bound form) (PubMed:20943950, PubMed:25500191, PubMed:28325809). Simultaneously interacts with RAB7A and ARL8B; bringing about clustering and fusion of late endosomes and lysosomes (PubMed:28325809). Interacts (via RUN domain) with ARL8B (GTP-bound form); the interaction is required for PLEKHM1 localization to lysosomes and for ARL8B function in delivery and degradation of endocytic and autophagic cargo in lysosomes (PubMed:28325809). PLEKHM1 and PLEKHM2 compete for interaction with ARL8B (PubMed:28325809). Interacts with ARL8A; the interaction is weaker than with ARL8B (PubMed:28325809). Interacts with VPS41, VPS11, VPS18, VPS33A and VPS39; indicative for an association with the HOPS complex; the interactions with, at least, VPS41, VPS11, VPS18 and VPS33A require ARL8B (PubMed:25500191, PubMed:25498145, PubMed:28325809). Interacts with GABARAP, GABARAPL, GABARAPL2, MAP1LC3A, MAP1LC3B and MAP1LC3C (PubMed:25498145). Interacts with PAFAH1B (By similarity). Interacts (via N- and C-terminus) with NDEL1 (By similarity). Interacts (via C-terminus) with MAP3K7 (By similarity). Interacts (via N- and C-terminus) with FAM98A (By similarity). Interacts (via C-terminus) with DEF8; this interaction is weak but increased in a RAB7A-dependent manner (By similarity). In colon carcinoma and breast carcinoma cells, it interacts with sialyl-lex-positive protein (PubMed:12820725).
messages: Late endosome membrane
messages: Lysosome membrane
messages: Sialyl-lex is a carcinoma associated antigen.
messages: The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins GABARAP, GABARAPL, GABARAPL2, and LC3A/B/C.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MRPS30
gene id: 9606:MRPS30
uniprot id: Q9NP92
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the mitochondrion-specific ribosomal protein mL65 family.
messages: Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. mL65 forms a heterodimer with mL37.
messages: Heart, skeletal muscle, kidney and liver. Lower expression in placenta and peripheral blood leukocytes.
messages: Mitochondrion
messages: Sequencing errors.

9606:CACFD1
gene id: 9606:CACFD1
uniprot id: Q9UGQ2
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the calcium channel flower family.
messages: Membrane

9606:TRPC5
gene id: 9606:TRPC5
uniprot id: Q9UL62
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC5 sub-subfamily.
messages: Calcium channel activity is enhanced by MYLK, that promotes its subcellular localization at the plasma membrane.
messages: Cell membrane
messages: Expressed in brain with higher levels in fetal brain. Found in cerebellum and occipital pole.
messages: Interacts with TRPC4AP (By similarity). Homotetramer and heterotetramer with TRPC1 and/or TRPC4 (PubMed:12032305). Interacts with SLC9A3R1/NHERF (By similarity). Interacts with MX1 and RNF24 (PubMed:15757897, PubMed:17850865). Interacts (via C-terminus) with CABP1 (PubMed:15895247). Interacts with SESTD1 (via the spectrin 1 repeat) (PubMed:20164195). Interacts with PLSCR1 (PubMed:32110987).
messages: Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Has also been shown to be calcium-selective (By similarity). May also be activated by intracellular calcium store depletion. Mediates calcium-dependent phosphatidylserine externalization and apoptosis in neurons via its association with PLSCR1 (By similarity).

9606:NRCAM
gene id: 9606:NRCAM
uniprot id: B7Z670
uniprot id: C9JYY6
uniprot id: Q14CA1
uniprot id: Q92823
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
messages: Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.
messages: Cell membrane
messages: Constituent of a NFASC/NRCAM/ankyrin-G complex. Detected in a complex with CNTN1 and PTPRB. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC (PubMed:23897819).
messages: Detected in all the examined tissues. In the brain it was detected in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.
messages: Membrane
messages: Secreted
messages: axon

9606:RMI1
gene id: 9606:RMI1
uniprot id: Q9H9A7
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RMI1 family.
messages: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM. Directly interacts with RMI2 and TOP3A. May bind DHJ. Interacts (via N-terminal region) with BLM; the interaction is direct.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability.
messages: Nucleus

9606:PCDHB8
gene id: 9606:PCDHB8
uniprot id: Q9UN66
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cadherin 1 to cadherin 4 domains mediate homophilic trans-interaction, the interaction with an identical protocadherin expressed by a neighboring cell. This is a head-to-tail interaction, the cadherin 1 domain interacting with the cadherin 4 domain and the cadherin 2 domain interacting the cadherin 3 domain of the other protocadherin. The cadherin 6 domain mediates promiscuous interactions with protocadherins on the same cell membrane. Each cadherin domain binds three calcium ions.
messages: Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.
messages: Cell membrane
messages: Forms homodimers in trans (molecules expressed by two different cells). Forms promiscuous heterodimers in cis (at the plasma membrane of the same cell) with other protocadherins.

9606:RGL2
gene id: 9606:RGL2
uniprot id: O15211
names: Function
names: Subunit
messages: Interacts with SAMD9.
messages: Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity).

9606:UROS
gene id: 9606:UROS
uniprot id: A0A0S2Z4T8
uniprot id: A0A0S2Z5C5
uniprot id: A0A3B3ISM6
uniprot id: A0A3B3ITJ2
uniprot id: P10746
uniprot id: Q5T3L8
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the uroporphyrinogen-III synthase family.
messages: Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).
messages: Monomer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:HMGN5
gene id: 9606:HMGN5
uniprot id: P82970
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the HMGN family.
messages: Nucleus
messages: Preferentially binds to euchromatin and modulates cellular transcription by counteracting linker histone-mediated chromatin compaction.
messages: Specifically targeted by its C-terminus to nucleosomes in euchromatin.
messages: Ubiquitously expressed.

9606:PGAP4
gene id: 9606:PGAP4
uniprot id: Q9BRR3
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the PGAP4 family.
messages: Contains three transmembrane domains, including a tandem transmembrane domain insertion into its glycosyltransferase-A fold (PubMed:29374258). Transmembrane domain 1 functions as a signal for Golgi targeting (PubMed:29374258).
messages: Glycosylated.
messages: Golgi apparatus membrane
messages: Golgi-resident glycosylphosphatidylinositol (GPI)-N-acetylgalactosamine transferase involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins (PubMed:29374258). Required for the initial step of GPI-GalNAc biosynthesis, transfers GalNAc to GPI in the Golgi after fatty acid remodeling by PGAP2 (PubMed:29374258).
messages: The conserved DXD motif is involved in enzyme activity.

9606:C22orf23
gene id: 9606:C22orf23
uniprot id: Q9BZE7
names: Similarity
messages: Belongs to the UPF0193 (EVG1) family.

9606:TSPY1
gene id: 9606:TSPY1
uniprot id: A4FUW6
uniprot id: Q01534
names: Developmental Stage
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Polymorphism
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the nucleosome assembly protein (NAP) family.
messages: Cytoplasm
messages: Detected in 22-week old testis.
messages: Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. PubMed:12815422 reports 35 tandemly repeated gene copies on Yp11 originating from one individual.
messages: May be involved in sperm differentiation and proliferation.
messages: Nucleus
messages: Phosphorylated.
messages: Probable unspliced transcript.
messages: Sequence of unknown origin inserted in the coding sequence.
messages: Specifically expressed in testicular tissues. Isoform 1 and isoform 2 are expressed in spermatogonia and spermatocytes. Found in early testicular carcinoma in situ, spermatogonial cells in testicular tissues of 46,X,Y female and in prostate cancer cell lines.
messages: TSPY is located in the gonadoblastoma critical region and is preferentially expressed in tumor germ cells of gonadoblastoma specimens. Expression also correlates with testicular seminoma and tumorigenesis of the prostate gland.
messages: Up-regulated by androgen in a prostate cancer cell line.
messages: Variants Val-Glu-Val-Val-Ala-Glu-79 Ins and Arg-195 are shown to be present in a number of TSPY1 copies of the Yp11 loci. Variant Arg-195 is shown to be present at least in one TSPY1 copy of the Yq locus.

9606:TMEM65
gene id: 9606:TMEM65
uniprot id: Q6PI78
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Defects in TMEM65 may cause a mitochondrial disorder characterized by a complex encephalomyopathic phenotype. Clinical features includ microcephaly, dysmorphic features, psychomotor regression, hypotonia, growth retardation, lactic acidosis, intractable seizures, dyskenetics movements, without cardiomyopathy (PubMed:28295037).
messages: May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contribute to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance (PubMed:28295037).
messages: Mitochondrion inner membrane
messages: Monomer (By similarity). Homodimer (PubMed:26403541). Interacts with GJA1 (By similarity). Interacts weakly with DSP (By similarity).
messages: Predominantly expressed the ventricular tissue (at protein level).

9606:CHSY1
gene id: 9606:CHSY1
uniprot id: Q86X52
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
messages: Divalent metal cations. Highest activities are measured with Co(2+), Mn(2+) and Cd(2+).
messages: Golgi stack membrane
messages: Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes.

9606:PFN2
gene id: 9606:PFN2
uniprot id: P35080
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the profilin family.
messages: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG.
messages: Highly expressed in brain, skeletal muscle and kidney and less strongly in heart, placenta, lung and liver.
messages: Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio (PubMed:7758455). Interacts with PFN2 (By similarity).
messages: cytoskeleton

9606:U2AF1L4
gene id: 9606:U2AF1L4
uniprot id: Q8WU68
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the splicing factor SR family.
messages: Cytoplasm
messages: Interacts with GFI1, U2AF2 and C1QBP.
messages: Isoform 2 is widely expressed. Isoform 3 is highly expressed in heart, brain and lung, lower expressed in thymus and much lower expressed in peripheral blood leukocytes.
messages: Nucleus
messages: Nucleus speckle
messages: Orthologs of U2AF1L4 do not appear to exist in lower eukaryotes, Drosophila, C. elegans, plants, or vertebrates such as Xenopus or zebrafish. Existence of circadian and light-inducible alternative splicing of U2AF1L4 similar to the mouse in human and rat is not yet proven.
messages: RNA-binding protein that function as a pre-mRNA splicing factor. Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Acts by enhancing the binding of U2AF2 to weak pyrimidine tracts. Also participates in the regulation of alternative pre-mRNA splicing. Activates exon 5 skipping of PTPRC during T-cell activation; an event reversed by GFI1. Binds to RNA at the AG dinucleotide at the 3'-splice site (By similarity). Shows a preference for AGC or AGA (By similarity).
messages: The region 162-220 is essential for the nuclear import of the protein in spite of the absence of a nuclear localization signal (NLS). This region is essential for the interaction with C1QBP, interaction which is required for the nuclear translocation. This region may be involved in the localization in nuclear dot-like structures and it also confers the ability of nucleo-cytoplasmic shuttling.
messages: The second zinc finger in necessary for interaction with GFI1 and for alternative pre-mRNA splicing events.

9606:DES
gene id: 9606:DES
uniprot id: P17661
uniprot id: Q53SB5
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: ADP-ribosylation prevents ability to form intermediate filaments.
messages: Belongs to the intermediate filament family.
messages: Cytoplasm
messages: Homomer (PubMed:21135508). Interacts with DST (By similarity). Interacts with MTM1 (PubMed:21135508). Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132). Interacts with CRYAB (PubMed:28470624). Interacts with NEB (via nebulin repeats 160-164) (PubMed:23615443). Interacts (via rod region) with NEBL (via nebulin repeats 1-5) (PubMed:27733623). Interacts with ASB2 isoform 1; the interaction targets DES for proteasomal degradation (By similarity). Interacts with PLEC isoform 1C (PubMed:24940650). Interacts with PKP1 (PubMed:10852826).
messages: Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity).
messages: Nucleus
messages: Phosphorylation at Ser-7, Ser-28 and Ser-32 by CDK1, phosphorylation at Ser-60 by AURKB and phosphorylation at Thr-76 by ROCK1 contribute to efficient separation of desmin intermediate filaments during mitosis.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535).
messages: Ubiquitination by a SCF-like complex containing ASB2 isoform 1 leads to proteasomal degradation.
messages: Z line
messages: sarcolemma

9606:GCFC2
gene id: 9606:GCFC2
uniprot id: A4UHR0
uniprot id: B3KUM5
uniprot id: P16383
names: Caution
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GCF family.
messages: Contaminating sequence. The N-terminus matches the 2q37.3 region.
messages: Found in the Intron Large (IL) complex, a post-mRNA release spliceosomal complex containing the excised intron, U2, U5 and U6 snRNPs, and splicing factors (PubMed:24304693). Interacts with TFIP11 and DHX15 (PubMed:24304693).
messages: Involved in pre-mRNA splicing through regulating spliceosome C complex formation (PubMed:24304693). May play a role during late-stage splicing events and turnover of excised introns (PubMed:24304693).
messages: Was originally thought to be a DNA-binding transcriptional repressor. However, later work showed that the original sequence was a chimera and that the DNA-binding activity was derived from the incorrect N-terminal sequence.
messages: Widely expressed in tissues and cell lines.
messages: nucleolus
messages: nucleoplasm

9606:LSM14A
gene id: 9606:LSM14A
uniprot id: Q8ND56
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the LSM14 family.
messages: Component of a ribonucleoprotein (RNP) complex (By similarity). Interacts with DDX6 (PubMed:31422817, PubMed:29510985, PubMed:31439631). Interacts with EIF4ENIF1/4E-T; promoting EIF4ENIF1/4E-T localization to P-bodies (PubMed:26027925, PubMed:32354837, PubMed:29510985). Interacts (via FFD box) with EDC4 (PubMed:29510985).
messages: Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for translationally inactive mRNAs and protect them from degradation (PubMed:16484376, PubMed:17074753, PubMed:29510985). Acts as a repressor of mRNA translation (PubMed:29510985). May play a role in mitotic spindle assembly (PubMed:26339800).
messages: P-body
messages: Stress granule
messages: The LSM14 domain and the RGG repeats are required for accumulation in P-bodies, and the region containing the FDF motif is responsible for cytoplasmic retention.
messages: spindle

9606:ZFPM2
gene id: 9606:ZFPM2
uniprot id: Q8WW38
uniprot id: Q9NPQ0
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the FOG (Friend of GATA) family.
messages: Interacts with the N-terminal zinc-finger of GATA4, GATA5 and probably GATA6. Interacts with retinoid nuclear receptor RXRA when ligand bound (By similarity). Interacts with corepressor CTBP2; this interaction is however not essential for corepressor activity. Able to bind GATA1 in vitro. Interacts with NR2F2 and NR2F6 (By similarity). Interacts with ATOH8; mediates indirect interaction with GATA4 (By similarity).
messages: Nucleus
messages: Sequence incomplete.
messages: Sumoylation reduces transcriptional repression activity.
messages: The CCHC FOG-type zinc fingers 1, 2, 3 and 5 directly bind to GATA-type zinc fingers. The Tyr residue adjacent to the last Cys of the CCHC FOG-type zinc finger is essential for the interaction with GATA-type zinc fingers (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By similarity).
messages: Widely expressed at low level.

9606:IL17A
gene id: 9606:IL17A
uniprot id: Q16552
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the IL-17 family.
messages: Effector cytokine of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity (PubMed:24120361). Signals via IL17RA-IL17RC heterodimeric receptor complex, triggering homotypic interaction of IL17RA and IL17RC chains with TRAF3IP2 adapter. This leads to downstream TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways ultimately resulting in transcriptional activation of cytokines, chemokines, antimicrobial peptides and matrix metalloproteinases, with potential strong immune inflammation (PubMed:19825828, PubMed:21350122, PubMed:17911633, PubMed:18684971, PubMed:8676080, PubMed:24120361). Plays an important role in connecting T cell-mediated adaptive immunity and acute inflammatory response to destroy extracellular bacteria and fungi. As a signature effector cytokine of T-helper 17 cells (Th17), primarily induces neutrophil activation and recruitment at infection and inflammatory sites (By similarity). In airway epithelium, mediates neutrophil chemotaxis via induction of CXCL1 and CXCL5 chemokines (By similarity). In secondary lymphoid organs, contributes to germinal center formation by regulating the chemotactic response of B cells to CXCL12 and CXCL13, enhancing retention of B cells within the germinal centers, B cell somatic hypermutation rate and selection toward plasma cells (By similarity). Effector cytokine of a subset of gamma-delta T cells that functions as part of an inflammatory circuit downstream IL1B, TLR2 and IL23A-IL12B to promote neutrophil recruitment for efficient bacterial clearance (By similarity). Effector cytokine of innate immune cells including invariant natural killer cell (iNKT) and group 3 innate lymphoid cells that mediate initial neutrophilic inflammation (By similarity). Involved in the maintenance of the integrity of epithelial barriers during homeostasis and pathogen infection (PubMed:21350122). Upon acute injury, has a direct role in epithelial barrier formation by regulating…
messages: Expressed in memory Th17 cells (at protein level).
messages: Homodimer (PubMed:19835883). Forms complexes with IL17RA and IL17RC receptors with 2:1 binding stoichiometry: two receptor chains for one interleukin molecule (PubMed:32187518). IL17A homodimer preferentially drives the formation of IL17RA-IL17RC heterodimeric receptor complex (PubMed:32187518). IL17A homodimer adopts an asymmetrical ternary structure with one IL17RA molecule, allowing for high affinity interactions of one IL17A monomer with one IL17RA molecule (via D1 and D2 domains), while disfavoring binding of a second IL17RA molecule on the other IL17A monomer (PubMed:23695682). Heterodimer with IL17F (PubMed:17355969). IL17A-IL17F forms complexes with IL17RA-IL17RC, but with lower affinity when compared to IL17A homodimer (PubMed:32187518). IL17RA and IL17RC chains cannot distinguish between IL17A and IL17F molecules, potentially enabling the formation of topologically distinct complexes (PubMed:17355969, PubMed:28827714).
messages: Induced upon differentiation of CD4-positive T cells. Up-regulated by IL23A-IL12B (PubMed:17763419). Up-regulated in peripheral blood mononuclear cells upon West Nile virus infection (PubMed:27795421).
messages: N-glycosylated. Found both in glycosylated and nonglycosylated forms.
messages: Secreted

9606:FAM189A1
gene id: 9606:FAM189A1
uniprot id: O60320
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ENTREP family.
messages: Membrane

9606:SLC12A6
gene id: 9606:SLC12A6
uniprot id: A0A024R9I5
uniprot id: A0A024R9K8
uniprot id: Q6NSI7
uniprot id: Q9UHW9
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by N-ethylmaleimide (NEM). Inhibited by DIOA, bumetanide and furosemide. Inhibited by WNK3.
messages: Basolateral cell membrane
messages: Belongs to the SLC12A transporter family.
messages: Does not differ in the osmotic set point of swelling activation but, activation is more rapid.
messages: Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas (PubMed:10600773). Detected in umbilical vein endothelial cells (PubMed:16048901).
messages: Homomultimer and heteromultimer with other K-Cl cotransporters.
messages: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable).
messages: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901, PubMed:11551954, PubMed:10600773). May contribute to cell volume homeostasis in single cells (Probable).
messages: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901, PubMed:34031912, PubMed:33199848). May contribute to cell volume homeostasis in single cells (Probable).
messages: Membrane
messages: More abundant in kidney.
messages: N-glycosylated.
messages: N-terminal loop binds to the intracellular vestibule of the transporter, arresting the transporter in an inhibited state.
messages: Phosphorylated, phosphorylation regulates transporter activity.
messages: Produced by alternative promoter usage.
messages: Testis specific.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated by VEGF. Down-regulated by TNF.

9606:SNRNP200
gene id: 9606:SNRNP200
uniprot id: O75643
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the helicase family. SKI2 subfamily.
messages: Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome (PubMed:35241646). Plays a role in pre-mRNA splicing as a core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome.
messages: Component of a core complex containing at least PRPF8, SNRNP200, EFTUD2 and SNRNP40. Component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes, building blocks of the spliceosome. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39 (PubMed:16723661, PubMed:8670905, PubMed:26912367). Component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154, PubMed:35241646). Interacts with C9orf78; the interaction is direct and mutually exclusive with its interaction with WBP4 (PubMed:35241646). Interacts with WBP4; the interaction is mutually exclusive with its interaction with C9orf78 (PubMed:35241646). Interacts with PRPF8 (PubMed:35241646).
messages: Contains two helicase domains. The N-terminal helicase domain has catalytic activity by itself, contrary to the C-terminal helicase domain that may have a regulatory role and enhance the activity of the first helicase domain.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.

9606:ZBTB42
gene id: 9606:ZBTB42
uniprot id: B2RXF5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
messages: Cytoplasm
messages: Expressed in skeletal muscle (at protein level).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.
messages: nucleoplasm

9606:PHKB
gene id: 9606:PHKB
uniprot id: Q93100
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.
messages: Belongs to the phosphorylase b kinase regulatory chain family.
messages: By phosphorylation of various serine residues.
messages: Cell membrane
messages: Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.
messages: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
messages: Ser-701 is probably phosphorylated by PKA.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:BBS2
gene id: 9606:BBS2
uniprot id: Q9BXC9
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B and ALDOB. Interacts with DLEC1 (PubMed:33144677).
messages: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.
messages: centriolar satellite
messages: cilium membrane

9606:FAM131B
gene id: 9606:FAM131B
uniprot id: O94871
uniprot id: Q86XD5
names: Similarity
messages: Belongs to the FAM131 family.

9606:ZNF8
gene id: 9606:ZNF8
uniprot id: P17098
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Interacts with SMAD1 (via MH1 and MH2 domains) (By similarity). Interacts with SMAD5 (PubMed:12370310). Interacts weakly with SMAD2 (By similarity). Interacts weakly with SMAD3 and SMAD4 (PubMed:12370310).
messages: Nucleus
messages: Transcriptional repressor. May modulate BMP and TGF-beta signal transduction, through its interaction with SMAD proteins.
messages: Ubiquitously present in many human cell lines of different embryological derivation.

9606:ZFP28
gene id: 9606:ZFP28
uniprot id: Q8NHY6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation. May have a role in embryonic development.
messages: Nucleus

9606:CHP1
gene id: 9606:CHP1
uniprot id: Q99653
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the calcineurin regulatory subunit family. CHP subfamily.
messages: Both N-myristoylation and calcium-mediated conformational changes are essential for its function in exocytic traffic (By similarity). N-myristoylation is required for its association with microtubules and interaction with GAPDH, but not for the constitutive association to membranes.
messages: Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Affects the pH sensitivity of SLC9A1/NHE1 by increasing its sensitivity at acidic pH. Required for the stabilization and localization of SLC9A1/NHE1 at the plasma membrane. Inhibits serum- and GTPase-stimulated Na(+)/H(+) exchange. Plays a role as an inhibitor of ribosomal RNA transcription by repressing the nucleolar UBF1 transcriptional activity. May sequester UBF1 in the nucleoplasm and limit its translocation to the nucleolus. Associates to the ribosomal gene promoter. Acts as a negative regulator of the calcineurin/NFAT signaling pathway. Inhibits NFAT nuclear translocation and transcriptional activity by suppressing the calcium-dependent calcineurin phosphatase activity. Also negatively regulates the kinase activity of the apoptosis-induced kinase STK17B. Inhibits both STK17B auto- and substrate-phosphorylations in a calcium-dependent manner.
messages: Cell membrane
messages: Cytoplasm
messages: Endomembrane system
messages: Endoplasmic reticulum
messages: Endoplasmic reticulum-Golgi intermediate compartment
messages: Membrane
messages: Monomer. Interacts with STK17B; the interaction occurs in a calcium-independent manner and induces the translocation of CHP1 from the Golgi to the nucleus. Interacts with GAPDH; the interaction is direct, occurs in a N-myristoylation-dependent manner and facilitates the ability of CHP1 to bind microtubules. Interacts with KIF1B (via the C-terminal end of the kinesin-motor domain); the interaction occurs in a calcium-dependent manner. Associates (via C-terminal domain) with microtubules; the association occurs with polymerized microtubules during the cell cycle in a myristoylation- and calcium-independent manner and is enhanced by GAPDH (By similarity). Interacts with PPP3CA. Interacts with SLC9A1/NHE1 (via the juxtamembrane region of the cytoplasmic C-terminal domain); the interaction occurs at the plasma membrane in a calcium-dependent manner and at a domain that is critical for growth factor stimulation of the exchanger.
messages: Nucleus
messages: Phosphorylated; decreased phosphorylation is associated with an increase in SLC9A1/NHE1 Na(+)/H(+) exchange activity. Phosphorylation occurs in serum-dependent manner. The phosphorylation state may regulate the binding to SLC9A1/NHE1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed. Has been found in fetal eye, lung, liver, muscle, heart, kidney, thymus and spleen.
messages: cytoskeleton

9606:MYOZ2
gene id: 9606:MYOZ2
uniprot id: Q9NPC6
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the myozenin family.
messages: Expressed specifically in heart and skeletal muscle.
messages: Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2. Interacts with ACTN1, LDB3, MYOT and PPP3CA.
messages: Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Z line

9606:NFATC4
gene id: 9606:NFATC4
uniprot id: Q14934
names: Activity Regulation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Ca(2+)-regulated transcription factor that is involved in several processes, including the development and function of the immune, cardiovascular, musculoskeletal, and nervous systems (PubMed:7749981, PubMed:11514544, PubMed:11997522, PubMed:17875713, PubMed:17213202, PubMed:18668201, PubMed:25663301). Involved in T-cell activation, stimulating the transcription of cytokine genes, including that of IL2 and IL4 (PubMed:7749981, PubMed:18668201, PubMed:18347059). Along with NFATC3, involved in embryonic heart development. Involved in mitochondrial energy metabolism required for cardiac morphogenesis and function (By similarity). Transactivates many genes involved in the cardiovascular system, including AGTR2, NPPB/BNP (in synergy with GATA4), NPPA/ANP/ANF and MYH7/beta-MHC (By similarity). Involved in the regulation of adult hippocampal neurogenesis. Involved in BDNF-driven pro-survival signaling in hippocampal adult-born neurons. Involved in the formation of long-term spatial memory and long-term potentiation (By similarity). In cochlear nucleus neurons, may play a role in deafferentation-induced apoptosis during the developmental critical period, when auditory neurons depend on afferent input for survival (By similarity). Binds to and activates the BACE1/Beta-secretase 1 promoter, hence may regulate the proteolytic processing of the amyloid precursor protein (APP) (PubMed:25663301). Plays a role in adipocyte differentiation (PubMed:11997522). May be involved in myoblast differentiation into myotubes (PubMed:17213202). Binds the consensus DNA sequence 5'-GGAAAAT-3' (Probable). In the presence of CREBBP, activates TNF transcription (PubMed:11514544). Binds to PPARG gene promoter and regulates its activity (PubMed:11997522). Binds to PPARG and REG3G gene promoters (By similarity).
messages: Due to an intron retention.
messages: Member of the multicomponent NFATC transcription complex that consists of at least two components, a pre-existing cytoplasmic component NFATC2 and an inducible nuclear component NFATC1. Other NFAT proteins, such as NFATC3, or members of the activating protein-1 (AP-1) family and MAF can also bind the complex. NFAT proteins can bind DNA as monomers or dimers (PubMed:7749981). Interacts with CREBBP; this interaction potentiates transcription activation (PubMed:11514544). Interacts with MAPK8/JNK1 and MAPK9/JNK2 (PubMed:17875713). Interacts with GATA4 (via the second Zn finger) (By similarity). Interacts (via N-terminus) with IRAK1 (via C-terminus) (PubMed:18691762). Interacts with RPS6KA3 (PubMed:17213202). Interacts with HOMER1, HOMER2 and HOMER3; this interaction competes with calcineurin/PPP3CA-binding and hence prevents NFATC4 dephosphorylation and activation (PubMed:18218901). Interacts with ESR1 and ESR2; this interaction decreases NFATC4 transcriptional activity (PubMed:18668201). Interacts with MTOR and MAPK7/ERK5 (PubMed:18347059). Interacts with TRIM17; this interaction prevents NFATC3 nuclear localization (By similarity).
messages: Nucleus
messages: Phosphorylated by NFATC-kinases; dephosphorylated by calcineurin/PPP3CA. Phosphorylated on Ser-168 and Ser-170 by MTOR, IRAK1, MAPK7/ERK5 and MAPK14/p38, on Ser-213 and Ser-217 by MAPK8/JNK1 and MAPK9/JNK2, and on Ser-289 and Ser-344 by RPS6KA3 (PubMed:11997522, PubMed:17875713, PubMed:17213202, PubMed:18347059). Phosphorylated by GSK3B (PubMed:18347059). Phosphorylation by GSK3B markedly increases NFATC4 ubiquitination (By similarity). Phosphorylation at Ser-168 and Ser-170 is stimulated by UV irradiation (PubMed:18347059). Phosphorylation determines subcellular location: the hyperphosphorylated protein is cytosolic, while the dephosphorylated form is targeted to the nucleus.
messages: Rel similarity domain (RSD) or Rel homology domain (RHD) allows DNA-binding and cooperative interactions with AP-1 factors.
messages: Transcriptional activity may be repressed by ESR1 and ESR2.
messages: Ubiquitinated, leading to degradation by the proteasome. Ubiquitination may be stimulated by GSK3B-dependent phosphorylation. Polyubiquitin linkage mainly occurs through 'Lys-48'.
messages: Widely expressed, with high levels in placenta, lung, kidney, testis and ovary (PubMed:18675896). Weakly expressed in spleen and thymus (PubMed:18675896). In the hippocampus, expressed in the granular layer of the dentate gyrus, in the pyramidal neurons of CA3 region, and in the hippocampal fissure (PubMed:18675896). Expressed in the heart (at protein level) (PubMed:12370307).
messages: cytosol

9606:FGF13
gene id: 9606:FGF13
uniprot id: A8K1P5
uniprot id: Q92913
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the heparin-binding growth factors family.
messages: Cytoplasm
messages: Interacts with SCN8A; regulates SCN8A activity (PubMed:15282281, PubMed:21566136, PubMed:33245860). Interacts with SCN1A; may regulate SCN1A activity (PubMed:19406745, PubMed:21566136). Interacts with SCN5A; the interaction is direct and may regulate SNC5A density at membranes and function (PubMed:21817159). May also interact with SCN2A and SCN11A (PubMed:19406745, PubMed:21566136). Interacts with MAPK8IP2; may regulate the MAPK8IP2 scaffolding activity (PubMed:11378392).
messages: May be phosphorylated.
messages: Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). Regulates voltage-gated sodium channels transport and function (PubMed:15282281, PubMed:33245860). May also play a role in MAPK signaling (By similarity). Required for the development of axonal initial segment-targeting inhibitory GABAergic synapses made by chandelier neurons (By similarity).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed. Predominantly expressed in the nervous system.
messages: dendrite
messages: filopodium
messages: growth cone
messages: sarcolemma

9606:TMEM202
gene id: 9606:TMEM202
uniprot id: A6NGA9
names: Subcellular Location Annotation
messages: Membrane

9606:PCDHGA12
gene id: 9606:PCDHGA12
uniprot id: O60330
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
messages: Probable cloning artifact.

9606:OR13J1
gene id: 9606:OR13J1
uniprot id: Q8NGT2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:SNRNP40
gene id: 9606:SNRNP40
uniprot id: Q96DI7
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of the pre-catalytic and catalytic spliceosome complexes (PubMed:9731529, PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:30315277, PubMed:29360106, PubMed:29301961). Component of the postcatalytic spliceosome P complex (PubMed:30705154). Part of the U5 snRNP complex. Interacts with PRPF8. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, WDR57, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39 (PubMed:16723661).
messages: Nucleus
messages: Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 small nuclear ribonucleoprotein (snRNP) complex and the U4/U6-U5 tri-snRNP complex, building blocks of the spliceosome (PubMed:9774689, PubMed:16723661, PubMed:26912367).

9606:ARID1A
gene id: 9606:ARID1A
uniprot id: O14497
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1B/BAF250B. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:22952240, PubMed:26601204, PubMed:12200431, PubMed:8804307, PubMed:11780067, PubMed:11988099, PubMed:15170388). Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:12200431, PubMed:11734557, PubMed:18765789,). In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Component of a SWI/SNF-like EBAFa complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCC1/BAF155, SMARCC2/BAF170, BAF250A and MLLT1/ENL (PubMed:12665591). Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A (PubMed:12200431, PubMed:15170388). Interact…
messages: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas.
messages: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZBTB6
gene id: 9606:ZBTB6
uniprot id: Q15916
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: May be involved in transcriptional regulation.
messages: Nucleus
messages: Widely expressed with highest levels in brain.

9606:FCGR3A
gene id: 9606:FCGR3A
uniprot id: P08637
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Involved in Dengue virus pathogenesis via antibody-dependent enhancement (ADE) mechanism. Secondary infection with Dengue virus triggers elevated levels of afucosylated non-neutralizing IgG1s with reactivity to viral envelope/E protein. Viral antigen-IgG1 complexes bind with high affinity to FCGR3A, facilitating virus entry in myeloid cells and subsequent viral replication.
messages: Cell membrane
messages: Encoded by one of two nearly indentical genes: FCGR3A (shown here) and FCGR3B which are expressed in a tissue-specific manner. The Phe-203 in III-A determines the transmembrane domains whereas the 'Ser-203' in III-B determines the GPI-anchoring.
messages: Expressed in natural killer cells (at protein level) (PubMed:2526846). Expressed in a subset of circulating monocytes (at protein level) (PubMed:27670158).
messages: FCGR3A in mammals is the true ortholog of FCGR4 in rodents. The FCGR2A-HSPA6-FCGR4-FCGR2B module was duplicated in great apes through non-allelic homologous recombination, giving rise to two FCGR4-type genes and to FCGR2C, a hybrid gene combining FCGR2A and FCGR2B. While FCGR3A kept the original FCGR4 functionality, FCGR3B rapidly evolved and acquired specific features coding for a GPI-anchored receptor.
messages: Forms a heterooligomeric complex with ITAM-containing signaling subunits, either a homodimer of CD247, a homodimer of FCER1G or a heterodimer of CD247 and FCER1G (PubMed:2532305, PubMed:1825220, PubMed:28652325). Interacts (via transmembrane domain) with signaling subunits; this interaction is a prerequisite for receptor complex expression on the cell surface and intracellular signal transduction (PubMed:2532305, PubMed:1825220, PubMed:28652325). Binds the Fc region of antigen-complexed IgG with a preference for IgG1 and IgG3 isotypes (PubMed:22023369, PubMed:21768335, PubMed:8609432, PubMed:9242542, PubMed:11711607). Interacts with CD2; this interaction is involved in NK cell activation and cytotoxicity (PubMed:23006327). Interacts with S100A4; this interaction inhibits PKC-dependent phosphorylation of FCGR3A (PubMed:23024279).
messages: Glycosylated. Contains high mannose- and complex-type oligosaccharides. Glycosylation at Asn-180 is mandatory for high affinity binding to the Fc and for discrimination between fucosylated and afucosylated IgG glycoforms.
messages: Phosphorylated at RSSTR motif by PKC. The relevant physiological PKCs might be PRKCI, PRKCG, PRKCE, PRKCH and PRKCQ.
messages: Receptor for the invariable Fc fragment of immunoglobulin gamma (IgG). Optimally activated upon binding of clustered antigen-IgG complexes displayed on cell surfaces, triggers lysis of antibody-coated cells, a process known as antibody-dependent cellular cytotoxicity (ADCC). Does not bind free monomeric IgG, thus avoiding inappropriate effector cell activation in the absence of antigenic trigger (PubMed:24412922, PubMed:25786175, PubMed:21768335, PubMed:22023369, PubMed:8609432, PubMed:9242542, PubMed:25816339, PubMed:11711607, PubMed:28652325). Mediates IgG effector functions on natural killer (NK) cells. Binds antigen-IgG complexes generated upon infection and triggers NK cell-dependent cytokine production and degranulation to limit viral load and propagation. Involved in the generation of memory-like adaptive NK cells capable to produce high amounts of IFNG and to efficiently eliminate virus-infected cells via ADCC (PubMed:25786175, PubMed:24412922). Regulates NK cell survival and proliferation, in particular by preventing NK cell progenitor apoptosis (PubMed:9916693, PubMed:29967280). Fc-binding subunit that associates with CD247 and/or FCER1G adapters to form functional signaling complexes. Following the engagement of antigen-IgG complexes, triggers phosphorylation of immunoreceptor tyrosine-based activation motif (ITAM)-containing adapters with subsequent activation of phosphatidylinositol 3-kinase signaling and sustained elevation of intracellular calcium that ultimately drive NK cell activation. The ITAM-dependent signaling coupled to receptor phosphorylation by PKC mediates robust intracellular calcium flux that leads to production of pro-inflammatory cytokines, whereas in the absence of receptor phosphorylation it mainly activates phosphatidylinositol 3-kinase signaling leading to cell degranulation (PubMed:2532305, PubMed:1825220, PubMed:23024279). Costimulates NK cells and trigger lysis of target cells independently of IgG binding (PubMed:23006327, PubMe…
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Undergoes rapid ectodomain shedding upon NK cell stimulation. The soluble form is produced by a proteolytic cleavage mediated by ADAM17. Repeated stimulation causes receptor shedding, a mechanism that allows for increased NK cell motility and detachment from opsonized target cells while avoiding activation-induced NK cell apoptosis.
messages: Up-regulated in a monocyte subset upon exposure to IL10, TGFB and MCSF.

9606:ZYG11A
gene id: 9606:ZYG11A
uniprot id: Q6WRX3
names: Function
names: Similarity
messages: Belongs to the zyg-11 family.
messages: Probably acts as target recruitment subunit in an E3 ubiquitin ligase complex ZYGA-CUL2-elongin BC.

9606:FEV
gene id: 9606:FEV
uniprot id: Q99581
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A chromosomal aberration involving FEV is found in Ewing tumors. Translocation t(2;21;22)(q23;q22;q12) that forms a EWSR1-FEV fusion protein with a potential oncogenic activity.
messages: Belongs to the ETS family.
messages: Disease susceptibility may be associated with variants affecting the gene represented in this entry.
messages: Functions as a transcriptional regulator. According to PubMed:12761502, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth.
messages: In brain, exclusively expressed in the major serotonergic neurons of the dorsal and median raphe nuclei located in the midbrain and pons. Also detected in prostate and small intestine.
messages: Nucleus

9606:ARHGAP35
gene id: 9606:ARHGAP35
uniprot id: Q9NRY4
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binding of acidic phospholipids inhibits the Rho GAP activity and promotes the Rac GAP activity.
messages: Cell membrane
messages: Cytoplasm
messages: Detected in neutrophils (at protein level).
messages: Interacts with RASA1 (By similarity). Interacts with the general transcription factor GTF2I, the interaction sequesters GTF2I in the cytoplasm (PubMed:19393245).
messages: N-terminal part (1-266) has GTPase activity. Required for proper cellular localization.
messages: Nucleus
messages: Phosphorylation of Tyr-1105 by PTK6 promotes the association with RASA1, inactivating RHOA while activating RAS. Phosphorylation at Tyr-308 by PDGFRA inhibits binding to GTF2I (PubMed:18829532, PubMed:19393245). Phosphorylated by PRKCA at Ser-1221 and Thr-1226, induces relocalization from the cytoplasm to regions of plasma membrane ruffling and prevents the binding and substrate specificity regulation by phospholipids (PubMed:19673492). In brain, phosphorylated by FYN and SRC (By similarity). During focal adhesion formation, phosphorylated by MAPK1 and MAPK3 at the C-terminal region, probably at Ser-1451, Ser-1476, Thr-1480 and Ser-1483. Phosphorylation by MAPK1 and MAPK3 inhibits GAP function and localizes ARGHAP35 away from newly forming focal adhesions and stress fibers in cells spreading on fibronectin (By similarity). Phosphorylation at Ser-1476 and Thr-1480 by GSK3B requires priming by MAPK and inhibits RhoGAP activity and modulates polarized cell migration (By similarity).
messages: Rho GTPase-activating protein (GAP) (PubMed:19673492, PubMed:28894085). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity (PubMed:19673492). This binding is inhibited by phosphorylation by PRKCA (PubMed:19673492). Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP) (By similarity). Transduces SRC-dependent signals from cell-surface adhesion molecules, such as laminin, to promote neurite outgrowth. Regulates axon outgrowth, guidance and fasciculation (By similarity). Modulates Rho GTPase-dependent F-actin polymerization, organization and assembly, is involved in polarized cell migration and in the positive regulation of ciliogenesis and cilia elongation (By similarity). During mammary gland development, is required in both the epithelial and stromal compartments for ductal outgrowth (By similarity). Represses transcription of the glucocorticoid receptor by binding to the cis-acting regulatory sequence 5'-GAGAAAAGAAACTGGAGAAACTC-3'; this function is however unclear and would need additional experimental evidences (PubMed:1894621).
messages: The pG1 pseudoGTPase domain does not bind GTP.
messages: Unlikely isoform. Aberrant splice sites.
messages: cilium basal body

9606:CES5A
gene id: 9606:CES5A
uniprot id: Q6NT32
uniprot id: V9HWK3
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the type-B carboxylesterase/lipase family.
messages: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs.
messages: N-glycosylated.
messages: Secreted
messages: Was termed (Ref.1) CES5.

9606:MAP4K4
gene id: 9606:MAP4K4
uniprot id: O95819
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
messages: Cytoplasm
messages: Interacts with the SH3 domain of the adapter proteins Nck (By similarity). Interacts (via its CNH regulatory domain) with ATL1 (via the N-terminal region). Interacts with RAP2A (GTP-bound form preferentially).
messages: Serine/threonine kinase that may play a role in the response to environmental stress and cytokines such as TNF-alpha. Appears to act upstream of the JUN N-terminal pathway. Phosphorylates SMAD1 on Thr-322.
messages: Widely expressed. Isoform 5 is abundant in the brain. Isoform 4 is predominant in the liver, skeletal muscle and placenta.

9606:SLC50A1
gene id: 9606:SLC50A1
uniprot id: A0A087WXX5
uniprot id: Q5SR67
uniprot id: Q9BRV3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SWEET sugar transporter family.
messages: Cell membrane
messages: Golgi apparatus membrane
messages: Interacts with TRPV2; the interaction probably occurs intracellularly and depends on TRPV2 N-glycosylation.
messages: Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1.
messages: Membrane
messages: Ubiquitously expressed with highest expression in oviduct, epididymis and intestine.

9606:KCNH5
gene id: 9606:KCNH5
uniprot id: Q8NCM2
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.2/KCNH5 sub-subfamily.
messages: Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low levels in kidney.
messages: Membrane
messages: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.
messages: The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH1/EAG (Probable).
messages: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

9606:ENO2
gene id: 9606:ENO2
uniprot id: P09104
uniprot id: Q6FHV6
names: Cofactor
names: Developmental Stage
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the enolase family.
messages: Cell membrane
messages: Cytoplasm
messages: During ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells.
messages: Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival (By similarity).
messages: Levels of ENO2 increase dramatically in cardiovascular accidents, cerebral trauma, brain tumors and Creutzfeldt-Jakob disease.
messages: Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific.
messages: Mg(2+) is required for catalysis and for stabilizing the dimer.
messages: The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons.

9606:ELAC2
gene id: 9606:ELAC2
uniprot id: A0A0S2Z5M8
uniprot id: Q9BQ52
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RNase Z family.
messages: Homodimer (By similarity). Interacts with PTCD1.
messages: Mitochondrion
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Highly expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, testis and ovary. Weakly expressed in brain, lung, spleen, thymus, prostate, small intestine, colon and leukocytes.
messages: Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly (PubMed:24703694).
messages: mitochondrion nucleoid

9606:GABRB2
gene id: 9606:GABRB2
uniprot id: P47870
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Allosterically activated by benzodiazepines (PubMed:29950725). Allosterically activated by the anesthetic etomidate (By similarity). Inhibited by the antagonist bicuculline (PubMed:29950725).
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub-subfamily.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Glycosylated.
messages: Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:8264558, PubMed:29950725). Interacts with UBQLN1 (By similarity). Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (By similarity). May interact with KIF21B (By similarity). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity).
messages: Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression.
messages: Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:8264558, PubMed:19763268, PubMed:27789573, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha2/beta2/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).
messages: Postsynaptic cell membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The extracellular domain contributes to synaptic contact formation.

9606:LY6G5C
gene id: 9606:LY6G5C
uniprot id: A0A1U9X7Y6
uniprot id: Q5SRR4
names: Caution
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Detected in T-cell lines and fetal and adult lung.
messages: Forms oligomers.
messages: It is uncertain whether Met-1 or Met-4 is the initiator.
messages: May have a role in hematopoietic cell differentiation.
messages: N-glycosylated.
messages: Secreted

9606:MFSD14A
gene id: 9606:MFSD14A
uniprot id: Q96MC6
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the major facilitator superfamily.
messages: Membrane

9606:HMGN1
gene id: 9606:HMGN1
uniprot id: P05114
uniprot id: Q6NSG7
names: Function
names: PTM
names: RNA Editing
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the HMGN family.
messages: Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2 (By similarity).
messages: Cytoplasm
messages: Interacts with transcriptional regulator SEHBP.
messages: Nucleus
messages: Partially edited. A new initiator methionine may be created by a single uridine insertion in the 5'-UTR, causing an N-terminal extension of 45 amino acids. The existence of the RNA edited version is supported by direct protein sequencing by MS/MS of the following peptides specific to that version: 23-31 and 40-48. The RNA edited version is called ET-HMGN1.
messages: Phosphorylation on Ser-21 and Ser-25 weakens binding to nucleosomes and increases the rate of H3 phosphorylation (By similarity). Phosphorylation favors cytoplasmic localization.

9606:LGMN
gene id: 9606:LGMN
uniprot id: Q53XC6
uniprot id: Q96CY7
uniprot id: Q99538
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by autocatalytic processing at pH 4.
messages: Belongs to the peptidase C13 family.
messages: Glycosylated.
messages: Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system.
messages: Homodimer before autocatalytic removal of the propeptide (By similarity). Monomer after autocatalytic processing. May interact with integrins.
messages: In the zymogen form, the uncleaved propeptide blocks access to the active site.
messages: Inhibited by CST6.
messages: Lysosome
messages: Ubiquitous. Particularly abundant in kidney, heart and placenta.

9606:PYCARD
gene id: 9606:PYCARD
uniprot id: Q9ULZ3
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: 'Lys-63'-linked polyubiquitination by TRAF3 is critical for speck formation and inflammasome activation.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspase-1-dependent inflammatory form of cell death and is the major constituent of the ASC pyroptosome which forms upon potassium depletion and rapidly recruits and activates caspase-1. In innate immune response, acts as an integral adapter in the assembly of the inflammasome which activates caspase-1 leading to processing and secretion of pro-inflammatory cytokines (PubMed:25847972). The function as activating adapter in different types of inflammasomes is mediated by the pyrin and CARD domains and their homotypic interactions. Required for recruitment of caspase-1 to inflammasomes containing certain pattern recognition receptors, such as NLRP2, NLRP3, NLRP6, AIM2 and probably IFI16 (PubMed:15030775, PubMed:17349957, PubMed:19158676, PubMed:19158675, PubMed:30674671, PubMed:34678144). In the NLRP1 and NLRC4 inflammasomes seems not be required but facilitates the processing of procaspase-1. In cooperation with NOD2 involved in an inflammasome activated by bacterial muramyl dipeptide leading to caspase-1 activation. May be involved in RIGI-triggered pro-inflammatory responses and inflammasome activation. In collaboration with AIM2 which detects cytosolic double-stranded DNA may also be involved in a caspase-1-independent cell death that involves caspase-8. In adaptive immunity may be involved in maturation of dendritic cells to stimulate T-cell immunity and in cytoskeletal rearrangements coupled to chemotaxis and antigen uptake may be involved in p…
messages: Golgi apparatus membrane
messages: In breast tumorigenesis, methylation-mediated silencing may affect genes and proteins that act as positive mediators of cell death.
messages: In macrophages, up-regulated by endocannabinoid anandamide/AEA.
messages: Inflammasome
messages: May have a regulating effect on the function as inflammasome adapter.
messages: Mitochondrion
messages: Nucleus
messages: Phosphorylated.
messages: Seems to inhibit inflammasome-mediated maturation of interleukin-1 beta.
messages: Self-associates; enforced oligomerization induces apoptosis, NF-kappa-B regulation and interleukin-1 beta secretion (PubMed:15641782, PubMed:17599095, PubMed:33420028, PubMed:33420033). Homooligomers can form disk-like particles of approximately 12 nm diameter and approximately 1 nm height (PubMed:15641782, PubMed:17599095). Next to isoform 1, also isoform 2 and isoform 3 may be involved in oligomerization leading to functional regulation (Probable). Component of several inflammasomes containing one pattern recognition receptor/sensor, such as NLRP1, NLRP2, NLRP3, NLRP6, NLRC4, AIM2, MEFV or NOD2, and probably NLRC4, NLRP12 or IFI16 (PubMed:11374873, PubMed:12191486, PubMed:15030775, PubMed:15456791, PubMed:19158676, PubMed:30674671, PubMed:34678144). Major component of the ASC pyroptosome, a 1-2 um supramolecular assembly (one per macrophage cell) which consists of oligomerized PYCARD dimers and CASP1 (PubMed:17599095). Interacts with CASP1 (precursor form); the interaction induces activation of CASP1 leading to the processing of interleukin-1 beta; PYCARD competes with RIPK2 for binding to CASP1 (PubMed:11967258, PubMed:14634131, PubMed:16585594, PubMed:17599095, PubMed:33420033). Interacts with NLRP3; the interaction requires the homooligomerization of NLRP3 (PubMed:11786556, PubMed:15030775, PubMed:15020601, PubMed:34341353). Interacts with NLRP2, NLRC4, MEFV, CARD16, AIM2, IFI16, NOD2, RIGI, RIPK2, PYDC1, PYDC2, NLRP10, CASP8, CHUK, IKBKB and BAX (PubMed:11374873, PubMed:11498534, PubMed:12486103, PubMed:12646168, PubMed:12656673, PubMed:15456791, PubMed:14730312, PubMed:15096476, PubMed:17178784, PubMed:17339483, PubMed:18362139, PubMed:19158675, PubMed:19158676, PubMed:19915568, PubMed:21575908). Component of the AIM2 PANoptosome complex, a multiprotein complex that drives inflammatory cell death (PANoptosis) (By similarity).
messages: The CARD domain mediates interaction with CASP1 and NLRC4 (PubMed:14634131 and PubMed:11967258).
messages: The pyrin domain mediates homotypic interactions with pyrin domains of proteins such as of NLRP3, PYDC1, PYDC2 and AIM2.
messages: Widely expressed at low levels. Detected in peripheral blood leukocytes, lung, small intestine, spleen, thymus, colon and at lower levels in placenta, liver and kidney. Very low expression in skeletal muscle, heart and brain. Expressed in lung epithelial cells (at protein level) (PubMed:23229815). Detected in the leukemia cell lines HL-60 and U-937, but not in Jurkat T-cell lymphoma and Daudi Burkitt's lymphoma. Detected in the melanoma cell line WM35, but not in WM793. Not detected in HeLa cervical carcinoma cells and MOLT-4 lymphocytic leukemia cells.

9606:OR5P3
gene id: 9606:OR5P3
uniprot id: A0A126GVE6
uniprot id: Q8WZ94
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in the tongue.
messages: Membrane
messages: Odorant receptor (Potential). May be involved in taste perception.

9606:DYNC1LI1
gene id: 9606:DYNC1LI1
uniprot id: E9PHI6
uniprot id: Q9Y6G9
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with human adenovirus 5 hexon protein; this interaction probably allows virus intracellular transport.
messages: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes.
messages: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. Probably involved in the microtubule-dependent transport of pericentrin. Is required for progress through the spindle assembly checkpoint. The phosphorylated form appears to be involved in the selective removal of MAD1L1 and MAD1L2 but not BUB1B from kinetochores.
messages: Belongs to the dynein light intermediate chain family.
messages: Cytoplasm
messages: Homodimer (By similarity). The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Self-associates. Interacts with DYNC1H1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with PCNT (By similarity).
messages: Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs).
messages: Phosphorylated during mitosis but not in interphase.
messages: cytoskeleton
messages: kinetochore
messages: spindle pole

9606:H4C4
gene id: 9606:H4C4
uniprot id: B2R4R0
uniprot id: P62805
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation at Lys-6 (H4K5ac), Lys-9 (H4K8ac), Lys-13 (H4K12ac) and Lys-17 (H4K16ac) occurs in coding regions of the genome but not in heterochromatin.
messages: Belongs to the histone H4 family.
messages: Butyrylation of histones marks active promoters and competes with histone acetylation.
messages: Chromosomal aberrations involving HISTONE H4 is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;6)(q27;p21), with BCL6.
messages: Chromosome
messages: Citrullination at Arg-4 (H4R3ci) by PADI4 impairs methylation.
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Glutarylation at Lys-92 (H4K91glu) destabilizes nucleosomes by promoting dissociation of the H2A-H2B dimers from nucleosomes.
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Monomethylated, dimethylated or trimethylated at Lys-21 (H4K20me1, H4K20me2, H4K20me3) (PubMed:12086618, PubMed:15964846, PubMed:17967882). Monomethylation is performed by KMT5A/SET8 (PubMed:15964846). Dimethylation and trimethylation is performed by KMT5B and KMT5C and induces gene silencing (By similarity). Monomethylated at Lys-13 (H4K12me1) by N6AMT1; H4K12me1 modification is present at the promoters of numerous genes encoding cell cycle regulators (PubMed:31061526).
messages: Monomethylation and asymmetric dimethylation at Arg-4 (H4R3me1 and H4R3me2a, respectively) by PRMT1 favors acetylation at Lys-9 (H4K8ac) and Lys-13 (H4K12ac). Demethylation is performed by JMJD6. Symmetric dimethylation on Arg-4 (H4R3me2s) by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
messages: Nucleus
messages: Phosphorylated by PAK2 at Ser-48 (H4S47ph). This phosphorylation increases the association of H3.3-H4 with the histone chaperone HIRA, thus promoting nucleosome assembly of H3.3-H4 and inhibiting nucleosome assembly of H3.1-H4.
messages: Sumoylated, which is associated with transcriptional repression.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED1 is caused by variants in H4C3.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED2 is caused by variants in H4C11.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED3 is caused by variants in H4C5.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED4 is caused by variants in H4C9.
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA (By similarity). Found in a co-chaperone complex with DNJC9, MCM2 and histone H3.3-H4 dimers (PubMed:33857403). Within the complex, interacts with DNJC9 (via C-terminus); the interaction is direct (PubMed:33857403).
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
messages: Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins. Monoubiquitinated at Lys-92 of histone H4 (H4K91ub1) in response to DNA damage. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 Lys-21 methylation (H4K20me).
messages: Ufmylated; monofmylated by UFL1 at Lys-32 (H4K31Ufm1) in response to DNA damage.

9606:IL21R
gene id: 9606:IL21R
uniprot id: Q9HBE5
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the type I cytokine receptor family. Type 4 subfamily.
messages: C-mannosylated at Trp-214 in the WSXWS motif, the sugar chain makes extensive hydrogen bonds with Asn-73 sugar, and bridges the two fibronectin domains transforming the V-shaped receptor into an A-frame.
messages: Chromosomal aberrations involving IL21R is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.
messages: Heterodimer with the common gamma subunit. Associates with JAK1.
messages: Membrane
messages: Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.
messages: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
messages: The box 1 motif is required for JAK interaction and/or activation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This is a receptor for interleukin-21.

9606:SOX4
gene id: 9606:SOX4
uniprot id: Q06945
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylation at Lys-95 by KAT5 promotes the transcription activator activity and is required during myoblast differentiation (PubMed:26291311). Acetylation by KAT5 abolishes the interaction between SOX4 and HDAC1 and switches SOX4 into a transcriptional activator (PubMed:26291311).
messages: Interacts with UBE2I (PubMed:16631117). Interacts with HDAC1; interaction inhibits the transcriptional activator activity (PubMed:16631117).
messages: Nucleus
messages: Testis, brain, and heart.
messages: The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity). Involved in skeletal myoblast differentiation by promoting gene expression of CALD1 (PubMed:26291311).

9606:DGLUCY
gene id: 9606:DGLUCY
uniprot id: B3KVU6
uniprot id: Q4LE40
uniprot id: Q7Z3D6
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the D-glutamate cyclase family.
messages: D-glutamate cyclase that converts D-glutamate to 5-oxo-D-proline.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Mitochondrion matrix

9606:ELFN2
gene id: 9606:ELFN2
uniprot id: Q5R3F8
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.
messages: Interacts with PPP1CA.
messages: Membrane

9606:BCAS2
gene id: 9606:BCAS2
uniprot id: B2R7W3
uniprot id: O75934
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SPF27 family.
messages: Component of the pre-catalytic and catalytic spliceosome complexes (PubMed:9731529, PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961). Component of the postcatalytic spliceosome P complex (PubMed:30705154). Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly in the complex with PRPF19, CDC5L and PLRG1 (PubMed:20176811).
messages: Nucleus
messages: Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR).
messages: Ubiquitously expressed.
messages: nucleolus

9606:OR4N2
gene id: 9606:OR4N2
uniprot id: A0A126GVT2
uniprot id: Q8NGD1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:SERPINF1
gene id: 9606:SERPINF1
uniprot id: A0A140VKF3
uniprot id: P36955
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the serpin family.
messages: Expressed in quiescent cells.
messages: Interacts with PNPLA2; this interaction stimulates the phospholipase A2 activity of PNPLA2.
messages: Melanosome
messages: N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan.
messages: Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.
messages: Retinal pigment epithelial cells and blood plasma.
messages: Secreted
messages: The N-terminal (AA 44-121) exhibits neurite outgrowth-inducing activity. The C-terminal exposed loop (AA 382-418) is essential for serpin activity.
messages: The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MTX3
gene id: 9606:MTX3
uniprot id: Q5HYI7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the metaxin family.
messages: Could function in transport of proteins into the mitochondrion.
messages: Mitochondrion
messages: Mitochondrion outer membrane
messages: Part of a large protein complex spanning both mitochondrial membranes termed the mitochondrial intermembrane space bridging (MIB) complex.

9606:TET3
gene id: 9606:TET3
uniprot id: O43151
names: Caution
names: Cofactor
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TET family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Chromosome
messages: Cytoplasm
messages: Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in epigenetic chromatin reprogramming in the zygote following fertilization (PubMed:31928709). Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation (By similarity). Selectively binds to the promoter region of target genes and contributes to regulate the expression of numerous developmental genes (PubMed:23217707). In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in DNA demethylation in the paternal pronucleus by mediating conversion of 5mC into 5hmC, 5fC and 5caC. Does not mediate DNA demethylation of maternal pronucleus because of the presence of DPPA3/PGC7 on maternal chromatin that prevents TET3-binding to chromatin (By similarity). In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT (PubMed:23353889). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034).
messages: Expressed in colon, muscle, adrenal gland and peripheral blood lymphocytes.
messages: Expressed in fetal brain but not adult brain.
messages: Interacts with HCFC1 and OGT.
messages: Nucleus
messages: Subsequent steps in cytosine demethylation are subject to discussion. According to a first model cytosine demethylation occurs through deamination of 5hmC into 5-hydroxymethyluracil (5hmU) and subsequent replacement by unmethylated cytosine by the base excision repair system. According to another model, cytosine demethylation is rather mediated via conversion of 5hmC into 5fC and 5caC, followed by excision by TDG.
messages: The CXXC zinc finger mediates binding to CpG-DNA (PubMed:29276034). It mediates binding to DNA sequences containing unmethylated cytosine or 5-carboxylcytosine in 5'-CCG-3' DNA sequence motifs (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The zinc ions have a structural role.

9606:NXF3
gene id: 9606:NXF3
uniprot id: Q9H4D5
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NXF family.
messages: Contains a novel CRM1-dependent nuclear export signal that compensates in cis for the loss of the nuclear pore targeting domain.
messages: Cytoplasm
messages: Expressed at high level in testis and at low level in a small number of tissues.
messages: Interacts with NXT1, NXT2, E1B-AP5 and CRM1 nuclear export factor.
messages: Lacks C-terminal domain that mediates direct interactions with nucleoporins.
messages: May function as a tissue-specific nuclear mRNA export factor.
messages: Nucleus
messages: The RNA-binding domain is a non-canonical RNP-type domain.

9606:NDUFS1
gene id: 9606:NDUFS1
uniprot id: E5KRK5
uniprot id: P28331
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the complex I 75 kDa subunit family.
messages: Binds 1 [2Fe-2S] cluster per subunit.
messages: Binds 2 [4Fe-4S] clusters per subunit.
messages: Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme (By similarity). Complex I associates with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978). Interacts with MDM2 (PubMed:30879903). Interacts with AKAP1 (By similarity).
messages: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30879903, PubMed:31557978). Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978). Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978).
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PPP1R14D
gene id: 9606:PPP1R14D
uniprot id: E9PAT1
uniprot id: Q4V755
uniprot id: Q9NXH3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the PP1 inhibitor family.
messages: Cytoplasm
messages: Detected in colon, intestine, kidney and brain cortex.
messages: Inhibitor of PPP1CA.
messages: Inhibitor of PPP1CA. Has inhibitory activity only when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction.
messages: Membrane
messages: Phosphorylated on several residues.

9606:DTD2
gene id: 9606:DTD2
uniprot id: Q96FN9
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A Gly-transPro motif from one monomer fits into the active site of the other monomer to allow specific chiral rejection of most L-amino acids except L-Ala. The trans conformation of the motif is maintained by Arg-151.
messages: Belongs to the DTD family.
messages: Cytoplasm
messages: Deacylates mischarged D-aminoacyl-tRNAs (By similarity). Also deacylates mischarged glycyl-tRNA(Ala), protecting cells against glycine mischarging by AlaRS (By similarity). Probably acts by rejecting L-amino acids from its binding site rather than specific recognition of D-amino acids (By similarity). Catalyzes the hydrolysis of D-tyrosyl-tRNA(Tyr), has no activity on correctly charged L-tyrosyl-tRNA(Tyr) (By similarity). By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the formation of D-aminoacyl-tRNA entities in vivo and helps enforce protein L-homochirality. In contrast to DTD1, deacylates L-Ala mischarged on tRNA(Thr)(G4.U69) by alanine-tRNA ligase AARS (PubMed:29410408). Can deacylate L-Ala due to a relaxed specificity for substrate chirality caused by the trans conformation of the Gly-Pro motif in the active site (PubMed:29410408). Also hydrolyzes correctly charged, achiral, glycyl-tRNA(Gly) in vitro, although in vivo EEF1A1/EF-Tu may protect cognate achiral glycyl-tRNA(Gly) from DTD2-mediated deacetylation (By similarity).
messages: Homodimer.

9606:FZD6
gene id: 9606:FZD6
uniprot id: A0A024R9E9
uniprot id: B4DL33
uniprot id: B4E236
uniprot id: O60353
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Belongs to the G-protein coupled receptor Fz/Smo family.
messages: Cell membrane
messages: Cell surface
messages: Cytoplasmic vesicle membrane
messages: Detected in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, thymus, prostate, testis, ovary, small intestine and colon. In the fetus, expressed in brain, lung, liver and kidney.
messages: Endoplasmic reticulum membrane
messages: Interacts with LMBR1L.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
messages: Membrane
messages: Rare non-synonymous variants in FZD6 may contribute to neural tube defects, congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy.
messages: Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity).
messages: The FZ domain is involved in binding with Wnt ligands.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.

9606:NXT2
gene id: 9606:NXT2
uniprot id: Q9NPJ8
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Associates with NXF1, NXF2, NXF3 and NXF5.
messages: Cytoplasm
messages: Nucleus
messages: Regulator of protein export for NES-containing proteins. Also plays a role in mRNA nuclear export.

9606:NCK2
gene id: 9606:NCK2
uniprot id: O43639
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Interacts with DOCK1, LIMS1 and TGFB1I1. Part of a complex containing PPP1R15B, PP1 and NCK2. Interacts with FASLG (By similarity). Interacts with AXL. Interacts with PAK1, PKN2 and SOS1. Interacts (via SH2 domain) with EGFR. Interacts (via SH2 domain) with DDR1.
messages: Phosphorylated.
messages: Ubiquitous.

9606:CUL5
gene id: 9606:CUL5
uniprot id: Q93034
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts (via the substrate recognition component) with HIV-1 Vif.
messages: (Microbial infection) Interacts (via the substrate recognition component) with human adenovirus 5 proteins E1B-55K and E4-orf6.
messages: (Microbial infection) Interacts with herpes virus 8 protein LANA1; this interaction promotes the degradation of NF-kappa-B component RELA.
messages: (Microbial infection) Interacts with molluscum contagiosum virus protein MC132; this interaction promotes the degradation of NF-kappa-B component RELA.
messages: (Microbial infection) Seems to be involved in proteosomal degradation of p53/TP53 stimulated by adenovirus E1B-55 kDa protein.
messages: Belongs to the cullin family.
messages: Component of multiple ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes formed of CUL5, Elongin BC (ELOB and ELOC), RBX2 and a variable SOCS box domain-containing protein as substrate-specific recognition component (PubMed:11384984, PubMed:15601820). Component of the probable ECS(LRRC41) complex with the substrate recognition component LRRC41 (PubMed:11384984). Component of the probable ECS(SOCS1) complex with the substrate recognition component SOCS1 (PubMed:11384984). Component of the probable ECS(WSB1) complex with the substrate recognition subunit WSB1 (PubMed:15601820). Component of the probable ECS(SOCS3) complex with the substrate recognition component SOCS3 (PubMed:15601820). Component of the probable ECS(SPSB1) complex with the substrate recognition component SPSB1 (PubMed:15601820). Component of the probable ECS(SPSB2) complex with the substrate recognition component SPSB2 (PubMed:15601820). Component of the probable ECS(SPSB4) complex with the substrate recognition component SPSB4 (PubMed:15601820). Component of the probable ECS(RAB40C) complex with the substrate recognition subunit RAB40C (PubMed:15601820). Component of the probable ECS(KLHDC1) complex with the substrate recognition component KLHDC1 (PubMed:32200094). May also form complexes containing CUL5, elongin BC complex (ELOB and ELOC), RBX1 and ELOA (PubMed:11384984, PubMed:19920177). May also form complexes containing CUL5, Elongin BC (ELOB and ELOC), RBX1 and VHL (PubMed:10230407, PubMed:18805092). Interacts with RNF7/RBX2, LRRC41, SOCS3, SPSB1, SPSB2, SPSB4 and RAB40C (PubMed:15601820). Interacts with ASB1, ASB2, ASB6, ASB7 and ASB12 (PubMed:16325183, PubMed:21119685). Interacts (when neddylated) with ARIH2; leading to activate the E3 ligase activity of ARIH1 (PubMed:24076655). Interacts with NOS2 in the presence of SPSB1 or SPSB2 or SPSB4 (PubMed:21199876). Interacts with ERCC6; the interaction is induced by DNA damaging agents or inhibitors of RNA polymerase II e…
messages: Core component of multiple SCF-like ECS (Elongin-Cullin 2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:11384984, PubMed:15601820). As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme (PubMed:11384984, PubMed:15601820). The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component (PubMed:11384984, PubMed:15601820). ECS(SOCS1) seems to direct ubiquitination of JAK2 (PubMed:11384984). ECS(KLHDC1) complex is part of the DesCEND (destruction via C-end degrons) pathway and mediates ubiquitination and degradation of truncated SELENOS selenoprotein produced by failed UGA/Sec decoding, which ends with a glycine (PubMed:32200094). As part of a multisubunit complex composed of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5; polyubiquitinates monoubiquitinated POLR2A (PubMed:19920177). May form a cell surface vasopressin receptor (PubMed:9037604).
messages: Neddylated; which enhances the ubiquitination activity of SCF and prevents binding of the inhibitor CAND1. Deneddylated via its interaction with the COP9 signalosome (CSN).
messages: Nucleus

9606:SLC7A7
gene id: 9606:SLC7A7
uniprot id: A0A0S2Z502
uniprot id: Q9UM01
names: Activity Regulation
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Arginine transport is inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA).
messages: Basolateral cell membrane
messages: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.
messages: Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
messages: Expression is stimulated and enhanced by IFNG/IFN-gamma.
messages: Highest expression in kidney and peripheral blood leukocytes. Weaker expression is observed in lung, heart, placenta, spleen, testis and small intestine. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, retinal pigment epithelial cells, and various carcinoma cell lines, with highest expression in a colon-carcinoma cell line.
messages: Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes.
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CXCR5
gene id: 9606:CXCR5
uniprot id: A0N0R2
uniprot id: A8K647
uniprot id: P32302
uniprot id: Q2YD84
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC). Involved in B-cell migration into B-cell follicles of spleen and Peyer patches but not into those of mesenteric or peripheral lymph nodes. May have a regulatory function in Burkitt lymphoma (BL) lymphomagenesis and/or B-cell differentiation.
messages: Expression in mature B-cells and Burkitt lymphoma cells.

9606:CYFIP2
gene id: 9606:CYFIP2
uniprot id: B7Z8N7
uniprot id: E7EVJ5
uniprot id: Q96F07
names: Disease Annotation
names: Function
names: Induction
names: RNA Editing
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CYFIP family.
messages: By p53/TP53.
messages: Component of the WAVE1 complex composed of ABI2, CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Interacts with FMR1, FXR1 and FXR2 (By similarity). Interacts with FMR1 isoform 6; the interaction occurs in a RNA-dependent manner (PubMed:24658146). Interacts with RAC1 (activated form) which causes the complex to dissociate, releasing activated WASF1 (PubMed:15048733). The complex can also be activated by NCK1 (PubMed:15048733). Interacts with SHANK3; the interaction mediates the association of SHANK3 with the WAVE1 complex (By similarity). Interacts with TMEM108 (via N-terminus); the interaction associates TMEM108 with the WAVE1 complex (By similarity).
messages: Cytoplasm
messages: Expressed in T-cells. Increased expression is observed in CD4(+) T-lymphocytes from patients with multiple sclerosis (at protein level).
messages: Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).
messages: Nucleus
messages: Partially edited. Editing appears to be brain-specific.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: perinuclear region
messages: synaptosome

9606:NLK
gene id: 9606:NLK
uniprot id: A0A024QZ12
uniprot id: Q9UBE8
names: Activity Regulation
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Activated by dimerization and subsequent intermolecular autophosphorylation on Thr-298 (By similarity). Activated by the non-canonical Wnt signaling pathway, in which WNT5A treatment leads to activation of MAP3K7/TAK1 and HIPK2, which subsequently phosphorylates and activates this protein. Other cytokines such as IL6 may also activate this regulatory circuit.
messages: Activated by threonine and tyrosine phosphorylation.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily.
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. MAP kinase subfamily.
messages: Contains a TQE activation loop motif in which autophosphorylation of the threonine residue (Thr-298) is sufficient for kinase activation. This mode of activation contrasts with that of classical MAP kinases, which contain a TXY activation loop motif in which phosphorylation of both the threonine and tyrosine residues is required for kinase activation.
messages: Cytoplasm
messages: Homodimer. Homodimerization is required for intermolecular autophosphorylation, kinase activation and nuclear localization (By similarity). May interact with components of cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes (By similarity). Interacts with LEF1, MEF2A, MYBL1 and MYBL2 (By similarity). Interacts with the upstream activating kinases HIPK2 and MAP3K7/TAK1. Interaction with MAP3K7/TAK1 seems to be indirect, and may be mediated by other proteins such as STAT3, TAB1 and TAB2. Interacts with and phosphorylates a number of transcription factors including FOXO1, FOXO3, FOXO4, MYB, NOTCH1 and TCF7L2/TCF4. Interacts with DAPK3/ZIPK, and this interaction may disrupt interaction with transcription factors such as TCF7L2/TCF4. Interacts with RNF138/NARF. Interacts with ATF5; the interaction stabilizes ATF5 at the protein level in a kinase-independent manner (PubMed:25512613).
messages: Nucleus
messages: Phosphorylated on Thr-298. Intermolecular autophosphorylation on Thr-298 activates the enzyme.
messages: Serine/threonine-protein kinase that regulates a number of transcription factors with key roles in cell fate determination. Positive effector of the non-canonical Wnt signaling pathway, acting downstream of WNT5A, MAP3K7/TAK1 and HIPK2. Negative regulator of the canonical Wnt/beta-catenin signaling pathway. Binds to and phosphorylates TCF7L2/TCF4 and LEF1, promoting the dissociation of the TCF7L2/LEF1/beta-catenin complex from DNA, as well as the ubiquitination and subsequent proteolysis of LEF1. Together these effects inhibit the transcriptional activation of canonical Wnt/beta-catenin target genes. Negative regulator of the Notch signaling pathway. Binds to and phosphorylates NOTCH1, thereby preventing the formation of a transcriptionally active ternary complex of NOTCH1, RBPJ/RBPSUH and MAML1. Negative regulator of the MYB family of transcription factors. Phosphorylation of MYB leads to its subsequent proteolysis while phosphorylation of MYBL1 and MYBL2 inhibits their interaction with the coactivator CREBBP. Other transcription factors may also be inhibited by direct phosphorylation of CREBBP itself. Acts downstream of IL6 and MAP3K7/TAK1 to phosphorylate STAT3, which is in turn required for activation of NLK by MAP3K7/TAK1. Upon IL1B stimulus, cooperates with ATF5 to activate the transactivation activity of C/EBP subfamily members. Phosphorylates ATF5 but also stabilizes ATF5 protein levels in a kinase-independent manner (PubMed:25512613).
messages: Was reported to form a transcriptional repressor complex with CHD7 and SETDB1 involved in PPARG repression (PubMed:17952062). However, this work was later retracted (PubMed:25358353).

9606:RNLS
gene id: 9606:RNLS
uniprot id: Q5VYX0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the renalase family.
messages: Catalyzes the oxidation of the less abundant 1,2-dihydro-beta-NAD(P) and 1,6-dihydro-beta-NAD(P) to form beta-NAD(P)(+). The enzyme hormone is secreted by the kidney, and circulates in blood and modulates cardiac function and systemic blood pressure. Lowers blood pressure in vivo by decreasing cardiac contractility and heart rate and preventing a compensatory increase in peripheral vascular tone, suggesting a causal link to the increased plasma catecholamine and heightened cardiovascular risk. High concentrations of catecholamines activate plasma renalase and promotes its secretion and synthesis.
messages: Secreted
messages: Secreted into the blood by the kidney. Highly expressed in the kidney, expressed at lower level in heart, skeletal muscle and small intestine. Its plasma concentration is markedly reduced in patients with end-stage renal disease, as compared with healthy subjects.

9606:LRFN5
gene id: 9606:LRFN5
uniprot id: Q96NI6
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the LRFN family.
messages: Can form heteromeric complexes with LRFN1, LRFN2, LRFN3 and LFRN4. Able to form homomeric complexes across cell junctions, between adjacent cells. Does not interact with DLG1, DLG2, DLG3 and DLG4.
messages: Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons.
messages: Lacks a cytoplasmic PDZ-binding motif, which has been implicated in function of related LRFN proteins.
messages: Membrane

9606:ZBTB17
gene id: 9606:ZBTB17
uniprot id: Q13105
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed in germinal center B-cells.
messages: Homooligomerizes (via the BTB/POZ domain), multimerization is required for DNA binding. Interacts (via the C-terminal zinc fingers) with GIF1; the interaction results in the recruitment of MYB to the CDKN1A/p21 and CDKN1B promoters and repression of transcription. Interacts with TRAF2, interfering with the binding of UBC13 to TRAF2, and inhibiting TRAF2 E3 ligase activity. Interacts with MYC (via the C-terminal helix-loop-helix motif); the interaction inhibits ZBTB17 transactivation and growth arrest activities and renders it insoluble in the nucleus. Also interacts with HCFC1, MAGEA4 and TMPRSS11A. Interacts with BCL6; the interaction inhibits ZBTB17 transactivation activity on target genes involved in cell cycle arrest. Interacts with ZBTB49 isoform 3/ZNF509S1; this interaction blocks ZBTB17-mediated repression of RB1 (PubMed:25245946).
messages: Nucleus
messages: Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrulation. Represses RB1 transcription; this repression can be blocked by interaction with ZBTB49 isoform 3/ZNF509S1 (PubMed:25245946).
messages: Undergoes 'Lys-48'-linked polyubiquitination at Lys-397 and Lys-481 and subsequent proteasomal degradation in a TRAF2-dependent manner.

9606:OR56A3
gene id: 9606:OR56A3
uniprot id: A0A126GWL6
uniprot id: Q8NH54
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:CSNK2A3
gene id: 9606:CSNK2A3
uniprot id: Q8NEV1
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CK2 subfamily.
messages: Detected in blood platelets and megakaryocyte cell lines. Poorly expressed in lung. Highly expressed in lung tumor tissues.
messages: Heterotetramer composed of two catalytic subunits (alpha chain and/or alpha' chain) and two regulatory subunits (beta chains) (By similarity). Interacts with PML.
messages: Probable catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Amplification-dependent oncogene; promotes cell proliferation and tumorigenesis by down-regulating expression of the tumor suppressor protein, PML. May play a role in the pathogenesis of the lung cancer development and progression.

9606:IFT172
gene id: 9606:IFT172
uniprot id: Q9UG01
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the IFT172 family.
messages: Interacts with IFT88 (By similarity). Interacts with IFT57 (By similarity). Interacts with RABL2/RABL2A; binds preferentially to GDP-bound RABL2 (By similarity).
messages: Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium

9606:PURG
gene id: 9606:PURG
uniprot id: Q9UJV8
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the PUR DNA-binding protein family.
messages: Isoform 1 is expressed in testis and glioblastoma. Isoform 2 is expressed in fetal lung.
messages: Nucleus

9606:TRIM11
gene id: 9606:TRIM11
uniprot id: Q96F44
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRIM/RBCC family.
messages: Binds cytoplasmic tail of integrin alpha-1. Interacts with the HN peptide (By similarity). Interacts with PHOX2B (By similarity). Interacts with PAX6 (By similarity). Interacts with MED15/ARC105; this interaction leads to MED15 ubiquitination and proteasomal degradation.
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX. Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis. May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences. May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation pathway. Mediates MED15 ubiquitination leading to proteasomal degradation. May contribute to the innate restriction of retroviruses. Upon overexpression, reduces HIV-1 and murine leukemia virus infectivity, by suppressing viral gene expression. Antiviral activity depends on a functional E3 ubiquitin-protein ligase domain. May regulate TRIM5 turnover via the proteasome pathway, thus counteracting the TRIM5-mediated cross-species restriction of retroviral infection at early stages of the retroviral life cycle.
messages: May be due to competing acceptor splice site.
messages: Nucleus
messages: The B30.2 domain may be involved cellular protein quality control by promoting the degradation of insoluble ubiquitinated proteins.
messages: The coiled-coil domain and the B30.2 domain are both necessary for interaction with HN and PAX6 (By similarity). They are also involved in MED15-binding.
messages: Ubiquitous.

9606:AOAH
gene id: 9606:AOAH
uniprot id: P28039
names: Activity Regulation
names: Cofactor
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Binds 3 Ca(2+) ions per subunit. The calcium ions probably have a structural role.
messages: Cleaved into a large and a small subunit.
messages: Cytoplasmic vesicle
messages: Heterodimer of the large and small subunits; disulfide-linked.
messages: Inhibited by EDTA.
messages: Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides (PubMed:1883828, PubMed:8089145, PubMed:29343645). By breaking down LPS, terminates the host response to bacterial infection and prevents prolonged and damaging inflammatory responses (By similarity). In peritoneal macrophages, seems to be important for recovery from a state of immune tolerance following infection by Gram-negative bacteria (By similarity).
messages: Secreted
messages: The small subunit is N-glycosylated.

9606:OTOP1
gene id: 9606:OTOP1
uniprot id: Q7RTM1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the otopetrin family.
messages: Cell membrane
messages: Proton-selective channel that specifically transports protons into cells (PubMed:29371428). Proton channel activity is only weakly-sensitive to voltage (By similarity). Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes (PubMed:29371428). In the vestibular system of the inner ear, required for the formation and function of otoconia, which are calcium carbonate crystals that sense gravity and acceleration (By similarity). Probably acts by maintaining the pH appropriate for formation of otoconia (By similarity). Regulates purinergic control of intracellular calcium in vestibular supporting cells (By similarity). May be involved in sour taste perception in sour taste cells by mediating entry of protons within the cytosol (By similarity). Also involved in energy metabolism, by reducing adipose tissue inflammation and protecting from obesity-induced metabolic dysfunction (By similarity).

9606:CLIP2
gene id: 9606:CLIP2
uniprot id: Q9UDT6
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:9799601). WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. However, it has been demonstrated that haploinsufficiency of this gene alone is not sufficient to cause any of the cognitive or facial features of WBS (PubMed:22608712).
messages: Cytoplasm
messages: Interacts with CLASP1 and CLASP2 (PubMed:11290329). Binds preferentially to tyrosinated microtubules, and only marginally to detyrosinated microtubules (By similarity).
messages: Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity).
messages: cytoskeleton

9606:FAAP24
gene id: 9606:FAAP24
uniprot id: Q9BTP7
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM and FAAP24. Interacts with FANCM.
messages: Nucleus
messages: Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA.
messages: The C-terminal region is distantly related to RuvA domain 2, a DNA-binding domain.

9606:MEAF6
gene id: 9606:MEAF6
uniprot id: Q9HAF1
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving MEAF6 may be a cause of endometrial stromal tumors. Translocation t(1;6)(p34;p21) with PHF1.
messages: Belongs to the EAF6 family.
messages: Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5 and the subunits EP400, TRRAP, BRD8, EPC1, DMAP1, RUVBL1, RUVBL2, ING3, actin, ACTL6A, MORF4L1, MORF4L2, MRGBP, YEATS4, VPS72 and MEAF6 (PubMed:12963728, PubMed:14966270, PubMed:15647280). Component of the HBO1 complex composed of KAT7/HBO1, MEAF6, ING4 or ING5, and one scaffold subunit: complexes containing BRPF scaffold (BRPF1, BRD1/BRPF2 or BRPF3) direct KAT7/HBO1 specificity towards H3K14ac, while complexes containing JADE scaffold (JADE1, JADE2 and JADE3) mediate acetylation of histone H4 (PubMed:16387653, PubMed:24065767). Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3 (PubMed:18794358).
messages: Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A (PubMed:14966270). This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). Component of HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), and have reduced activity toward histone H4 (PubMed:16387653, PubMed:24065767). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:18794358).
messages: kinetochore
messages: nucleolus

9606:TIMP1
gene id: 9606:TIMP1
uniprot id: P01033
uniprot id: Q6FGX5
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protease inhibitor I35 (TIMP) family.
messages: Detected in rheumatoid synovial fluid (at protein level).
messages: Interacts with MMP1, MMP3, MMP10 and MMP13, but has only very low affinity for MMP14. Interacts with CD63; identified in a complex with CD63 and ITGB1.
messages: Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signaling cascades via CD63 and ITGB1. Plays a role in integrin signaling. Mediates erythropoiesis in vitro; but, unlike IL3, it is species-specific, stimulating the growth and differentiation of only human and murine erythroid progenitors.
messages: N-glycosylated.
messages: Secreted
messages: The activity of TIMP1 is dependent on the presence of disulfide bonds.

9606:TMEM11
gene id: 9606:TMEM11
uniprot id: P17152
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. Interacts with IMMT/MIC60.
messages: Belongs to the TMEM11 family.
messages: Mitochondrion inner membrane
messages: Plays a role in mitochondrial morphogenesis.

9606:DCPS
gene id: 9606:DCPS
uniprot id: A0A384MTI8
uniprot id: Q96C86
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the HIT family.
messages: Cytoplasm
messages: Decapping scavenger enzyme that catalyzes the cleavage of a residual cap structure following the degradation of mRNAs by the 3'->5' exosome-mediated mRNA decay pathway.
messages: Decapping scavenger enzyme that catalyzes the cleavage of a residual cap structure following the degradation of mRNAs by the 3'->5' exosome-mediated mRNA decay pathway. Hydrolyzes cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG) with up to 10 nucleotide substrates (small capped oligoribonucleotides) and specifically releases 5'-phosphorylated RNA fragments and 7-methylguanosine monophosphate (m7GMP). Cleaves cap analog structures like tri-methyl guanosine nucleoside triphosphate (m3(2,2,7)GpppG) with very poor efficiency. Does not hydrolyze unmethylated cap analog (GpppG) and shows no decapping activity on intact m7GpppG-capped mRNA molecules longer than 25 nucleotides. Does not hydrolyze 7-methylguanosine diphosphate (m7GDP) to m7GMP (PubMed:22985415). May also play a role in the 5'->3 mRNA decay pathway; m7GDP, the downstream product released by the 5'->3' mRNA mediated decapping activity, may be also converted by DCPS to m7GMP (PubMed:14523240). Binds to m7GpppG and strongly to m7GDP. Plays a role in first intron splicing of pre-mRNAs. Inhibits activation-induced cell death.
messages: Detected in liver, brain, kidney, testis and prostate.
messages: Homodimer. Associates with components of the exosome multienzyme ribonuclease complex, such as EXOSC3 and EXOSC4. Interacts with NDOR1.
messages: Nucleus
messages: The C-terminal histidine triad (HIT) motif and the N-terminal domain are required for the decapping activity. The N-terminus is necessary but not sufficient for binding cap structures.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The hydrolytic product 7-methylguanosine diphosphate (m7GDP) efficiently inhibits the decapping scavenger activity and acts as a competitive inhibitor in vitro. Inhibited by 2,4-diaminoquinazoline.
messages: Up-regulated by menadione. Up-regulated by the transcription factor LTF isoform delta-lactoferrin (at protein level).

9606:ZNF562
gene id: 9606:ZNF562
uniprot id: Q6V9R5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:EXTL3
gene id: 9606:EXTL3
uniprot id: A0A384NPY9
uniprot id: O43909
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 47 family.
messages: Endoplasmic reticulum membrane
messages: Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).
messages: Golgi apparatus
messages: Interacts with REG3A.
messages: It is uncertain whether Met-1, Met-6 or Met-20 is the initiator.
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous. Expressed in keratinocytes.

9606:CPT1A
gene id: 9606:CPT1A
uniprot id: A0A024R5F4
uniprot id: B2RAQ8
uniprot id: P50416
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA.
messages: Belongs to the carnitine/choline acetyltransferase family.
messages: Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion (PubMed:9691089, PubMed:11350182, PubMed:14517221). Plays an important role in hepatic triglyceride metabolism (By similarity).
messages: Homohexamer and homotrimer (By similarity). Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1 (By similarity). Also identified in complexes with ACSL1 and VDAC2 and VDAC3 (By similarity).
messages: Inhibited by malonyl-CoA.
messages: Membrane
messages: Mitochondrion outer membrane
messages: Strong expression in kidney and heart, and lower in liver and skeletal muscle.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated by fatty acids.

9606:GRIN2B
gene id: 9606:GRIN2B
uniprot id: A0A8D9PHB2
uniprot id: Q13224
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberrations involving GRIN2B has been found in patients with intellectual disability. Translocations t(9;12)(p23;p13.1) and t(10;12)(q21.1;p13.1) with a common breakpoint in 12p13.1.
messages: A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2B/GRIN2B subfamily.
messages: Cell membrane
messages: Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:8768735, PubMed:26875626). In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death. Contributes to neural pattern formation in the developing brain. Plays a role in long-term depression (LTD) of hippocampus membrane currents and in synaptic plasticity (By similarity).
messages: Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851, PubMed:26912815). Can also form heterotetrameric channels that contain at least one zeta subunit (GRIN1), at least one epsilon subunit, plus GRIN3A or GRIN3B (By similarity). In vivo, the subunit composition may depend on the expression levels of the different subunits (Probable). Found in a complex with GRIN1 and GRIN3B. Found in a complex with GRIN1, GRIN3A and PPP2CB. Interacts with PDZ domains of PATJ, DLG3 and DLG4. Interacts with HIP1 and NETO1 (By similarity). Interacts with MAGI3 (PubMed:10748157). Interacts with DAPK1 (By similarity). Found in a complex with GRIN1 and PRR7 (PubMed:27458189). Interacts with PRR7 (PubMed:27458189). Interacts with CAMK2A (PubMed:28130356). Interacts with ARC; preventing ARC oligomerization (By similarity). Interacts with TMEM25 (By similarity).
messages: Late endosome
messages: Lysosome
messages: Membrane
messages: Phosphorylated on tyrosine residues (By similarity). Phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity (By similarity).
messages: Postsynaptic cell membrane
messages: Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia.
messages: Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system.
messages: Synaptic cell membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton

9606:GTF2F1
gene id: 9606:GTF2F1
uniprot id: P35269
names: Caution
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TFIIF alpha subunit family.
messages: Heterodimer of an alpha and a beta subunit. Interacts with GTF2F2, CTDP1, TAF6/TAFII80 and URI1. Interacts with GTF2B (via C-terminus and preferentially via acetylated form); this interaction prevents binding of GTF2B to GTF2F2 (PubMed:8662660, PubMed:12931194).
messages: Nucleus
messages: Phosphorylated on Ser and other residues by TAF1 and casein kinase II-like kinases.
messages: TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation.
messages: Up-regulated in response to enterovirus 71 (EV71) infection.
messages: Was reported to have a protein kinase activity and to autophosphorylates on Ser-385 and Thr-389.

9606:ALPI
gene id: 9606:ALPI
uniprot id: A0A024R4A2
uniprot id: P09923
names: Cofactor
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Alkaline phosphatase that can hydrolyze various phosphate compounds.
messages: Belongs to the alkaline phosphatase family.
messages: Binds 1 Mg(2+) ion.
messages: Binds 2 Zn(2+) ions.
messages: Cell membrane
messages: Homodimer.
messages: In most mammals there are four different isozymes: placental (ALPP), germ cell (ALPG), intestinal (ALPI) and tissue non-specific (liver/bone/kidney) (ALPL/TNAP).
messages: Membrane

9606:VGLL3
gene id: 9606:VGLL3
uniprot id: A8MV65
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the vestigial family.
messages: Enriched in placenta.
messages: May act as a specific coactivator for the mammalian TEFs.
messages: Nucleus

9606:CHIA
gene id: 9606:CHIA
uniprot id: A8K3T7
uniprot id: Q1M0P3
uniprot id: Q1M0P4
uniprot id: Q2VT96
uniprot id: Q9BZP6
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily.
messages: Cytoplasm
messages: Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13. Stimulates chemokine production by pulmonary epithelial cells. Protects lung epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of this protein depends on carbohydrate binding.
messages: Detected in lung epithelial cells from asthma patients (at protein level). Highly expressed in stomach. Detected at lower levels in lung.
messages: Interacts with EGFR.
messages: Secreted
messages: Up-regulated in lung epithelial cells from asthma patients.

9606:C1orf131
gene id: 9606:C1orf131
uniprot id: Q8NDD1
names: Caution
names: Subcellular Location Annotation
messages: Chromosome
messages: It is uncertain whether Met-1 or Met-11 is the initiator.

9606:ARMC6
gene id: 9606:ARMC6
uniprot id: Q6NXE6
names: Caution
names: PTM
names: Similarity
messages: Belongs to the ARMC6 family.
messages: It is uncertain whether Met-1 or Met-26 is the initiator.
messages: Methylated at His-263 by METTL9.

9606:SIAH1
gene id: 9606:SIAH1
uniprot id: Q8IUQ4
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SINA (Seven in absentia) family.
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:22483617, PubMed:9334332, PubMed:9858595, PubMed:28546513, PubMed:32430360, PubMed:33591310). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:22483617, PubMed:9334332, PubMed:9858595). Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:22483617, PubMed:9334332, PubMed:9858595). Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), the cell-surface receptor-type tyrosine kinase FLT3, the cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP (PubMed:10747903, PubMed:11146551, PubMed:11389839, PubMed:11389840, PubMed:11483517, PubMed:11483518, PubMed:11752454, PubMed:12072443). Confers constitutive instability to HIPK2 through proteasomal degradation (PubMed:18536714, PubMed:33591310). It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF-alpha signaling (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:1…
messages: Homodimer. Interacts with group 1 glutamate receptors GRM1 and GRM5. Interacts with DAB1, which may inhibit its activity. Interacts with UBE2E2. Interacts with PEG3. Interacts with GAPDH; leading to stabilize SIAH1 (By similarity). Component of some large E3 complex composed of UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with UBE2I. Interacts with alpha-tubulin. Interacts with PEG10, which may inhibit its activity. Interacts with KHDRBS3. Interacts with SNCAIP. Interacts with HIPK2; the interaction is promoted by DAZAP2 and results in SIAH1-mediated ubiquitination and subsequent proteasomal degradation of HIPK2 (PubMed:33591310). Interacts with DAZAP2; the interaction is decreased following phosphorylation of DAZAP2 by HIPK2 (PubMed:33591310). Interacts with Bassoon/BSN and Piccolo/PLCO; these interactions negatively regulate SIAH1 E3 ligase activity (By similarity). Interacts with DCC (PubMed:9334332). Interacts with AXIN1; catalyzes AXIN1 ubiquitination and subsequent proteasome-mediated ubiquitin-dependent degradation (PubMed:28546513).
messages: Inhibited by interaction with SNCAIP (isoform 2, but not isoform 1). May be inhibited by interaction with PEG10.
messages: May be induced by p53/TP53, suggesting that it may be required to modulate p53/TP53 response. The relevance of such activity in vivo is however unclear and may not exist.
messages: Nucleus
messages: Phosphorylated on Ser-19 by ATM and ATR. This phosphorylation disrupts SIAH1 interaction with HIPK2, and subsequent proteasomal degradation of HIPK2.
messages: The RING-type zinc finger domain is essential for ubiquitin ligase activity.
messages: The SBD domain (substrate-binding domain) mediates the homodimerization and the interaction with substrate proteins. It is related to the TRAF family.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed at a low level. Down-regulated in advanced hepatocellular carcinomas.

9606:SERPINB5
gene id: 9606:SERPINB5
uniprot id: A0A024R2B6
uniprot id: P36952
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the serpin family. Ov-serpin subfamily.
messages: Interacts with IRF6.
messages: Normal mammary epithelial cells.
messages: Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.
messages: extracellular space

9606:EIF4E1B
gene id: 9606:EIF4E1B
uniprot id: A6NMX2
names: Function
names: Similarity
names: Subunit
messages: Belongs to the eukaryotic initiation factor 4E family.
messages: Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structure.
messages: eIF4F is a multi-subunit complex, the composition of which varies with external and internal environmental conditions. It is composed of at least EIF4A, EIF4E and EIF4G (By similarity).

9606:BCL7C
gene id: 9606:BCL7C
uniprot id: Q8WUZ0
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the BCL7 family.
messages: May play an anti-apoptotic role.
messages: Ubiquitous.

9606:ZNF599
gene id: 9606:ZNF599
uniprot id: Q96NL3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:FAM53B
gene id: 9606:FAM53B
uniprot id: Q14153
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization.
messages: Belongs to the FAM53 family.
messages: Detected in skeletal muscle, kidney, spleen, thyroid, testis, ovary, small intestine, colon and peripheral blood.
messages: Interacts with CTNNB1.
messages: Nucleus

9606:PITPNM3
gene id: 9606:PITPNM3
uniprot id: A1A5C9
uniprot id: Q9BZ71
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
messages: Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.
messages: Detected in brain and spleen, and at low levels in ovary.
messages: Endomembrane system
messages: Interacts with PTK2B via its C-terminus.
messages: May be due to an intron retention.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MAJIN
gene id: 9606:MAJIN
uniprot id: Q3KP22
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MAJIN family.
messages: Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2.
messages: Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane.
messages: Nucleus inner membrane
messages: telomere

9606:PELO
gene id: 9606:PELO
uniprot id: Q9BRX2
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the eukaryotic release factor 1 family. Pelota subfamily.
messages: Cotranslational quality control factor involved in the No-Go Decay (NGD) pathway (PubMed:21448132, PubMed:29861391). In the presence of ABCE1 and HBS1L, is required for 48S complex formation from 80S ribosomes and dissociation of vacant 80S ribosomes (PubMed:21448132). Together with HBS1L and in presence of ABCE1, recognizes stalled ribosomes and promotes dissociation of elongation complexes assembled on non-stop mRNAs; this triggers endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and to degrade damaged mRNAs as part of the No-Go Decay (NGD) pathway (PubMed:21448132). As part of the PINK1-regulated signaling, upon mitochondrial damage is recruited to the ribosome/mRNA-ribonucleoprotein complex associated to mitochondrial outer membrane thereby enabling the recruitment of autophagy receptors and induction of mitophagy (PubMed:29861391).
messages: Cytoplasm
messages: Interacts with PINK1, ABCE1 and CNOT4.
messages: Nucleus
messages: The N-terminal domain has the RNA-binding Sm fold. It harbors the endoribonuclease activity.
messages: Ubiquitously expressed.

9606:MAB21L1
gene id: 9606:MAB21L1
uniprot id: B2R805
uniprot id: F1T0A2
uniprot id: Q13394
names: Disease Annotation
names: Domain
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A CAG trinucleotide repeat occurs in the 5'-UTR of this gene. This repeat has been found to be highly polymorphic, although expanded alleles have not yet been definitely linked with any phenotypic abnormality.
messages: Belongs to the mab-21 family.
messages: Expressed in brain, cerebellum and skeletal muscle.
messages: Monomer (PubMed:27271801). Homodecamer; composed of 2 back to back homopentamers (PubMed:27271801). The protein may exist as monomer in solution and oiligomerizes upon ligand binding (PubMed:27271801).
messages: Nucleus
messages: Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (PubMed:27103078, PubMed:30487245). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: While it shares structure similarities with CGAS, it also features a number of differences. The crystal structure is in inactive conformation and the enzyme would require a conformational change to be active. The nucleotidyltransferase activity is therefore unclear.

9606:RNF32
gene id: 9606:RNF32
uniprot id: Q9H0A6
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: Highly expressed in testis, less abundant in ovary.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: May play a role in sperm formation.

9606:SYNCRIP
gene id: 9606:SYNCRIP
uniprot id: O60506
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with herpes virus 8/HHV-8 protein vIRF-1; this interaction induces ubiquitination and degradation of SYNCRIP.
messages: (Microbial infection) Interacts with minute virus of mice (MVM) NS1 protein.
messages: Contaminating sequence. Potential poly-A sequence starting in position 413.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD-mediated complex that promotes MYC mRNA stability. Isoform 1, isoform 2 and isoform 3 are associated in vitro with pre-mRNA, splicing intermediates and mature mRNA protein complexes. Isoform 1 binds to apoB mRNA AU-rich sequences. Isoform 1 is part of the APOB mRNA editosome complex and may modulate the postranscriptional C to U RNA-editing of the APOB mRNA through either by binding to A1CF (APOBEC1 complementation factor), to APOBEC1 or to RNA itself. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Interacts in vitro preferentially with poly(A) and poly(U) RNA sequences. Isoform 3 may be involved in cytoplasmic vesicle-based mRNA transport through interaction with synaptotagmins. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation; seems not to be essential for GAIT complex function.
messages: Isoform 1 is a component of the APOB mRNA editosome complex and interacts with APOBEC1 and A1CF (APOBEC1 complementation factor). Part of a complex associated with the FOS mCRD domain and consisting of PABPC1, PAIP1, CSDE1/UNR, HNRPD and SYNCRIP. Isoform 3 interacts with HNRPR. Interacts with POLR2A hyperphosphorylated C-terminal domain. Isoform 1, isoform 2 and isoform 3 interact with SMN. Isoform 3 interacts through its C-terminal domain with SYT7, SYT8 and SYT9 (By similarity). The non-phosphorylated and phosphorylated forms are colocalized with PAIP1 in polysomes (By similarity). Interacts with HABP4 (PubMed:19523114). Identified in a histone pre-mRNA complex, at least composed of ERI1, LSM11, SLBP, SNRPB, SYNCRIP and YBX1 (By similarity). Identified in the spliceosome C complex. Component of the coding region determinant (CRD)-mediated complex, composed of DHX9, HNRNPU, IGF2BP1, SYNCRIP and YBX1. Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, YBX1 and untranslated mRNAs. Interacts with GTPBP1. Component of the GAIT complex; in humans the complex assembly seems to be a two-step process in which EPRS1 first associates with SYNCRIP to form a pre-GAIT complex which is deficient in GAIT element binding.
messages: May be due to a competing donor splice site and to an exon inclusion.
messages: May be due to a competing donor splice site.
messages: Microsome
messages: Nucleus
messages: Phosphorylated on tyrosine. The membrane-bound form found in microsomes is phosphorylated in vitro by insulin receptor tyrosine kinase (INSR). Phosphorylation is inhibited upon binding to RNA, whereas the cytoplasmic form is poorly phosphorylated (By similarity).
messages: The domain containing eight Arg-Gly-Gly repeats (RGG/RXR-box) may be involved in RNA-binding and protein-protein interactions. It is methylated by PRMT1, and essential for nuclear localization.
messages: Ubiquitously expressed. Detected in heart, brain, pancreas, placenta, spleen, lung, liver, skeletal muscle, kidney, thymus, prostate, uterus, small intestine, colon, peripheral blood and testis.
messages: nucleoplasm

9606:ARID4B
gene id: 9606:ARID4B
uniprot id: Q4LE39
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a transcriptional repressor (PubMed:12724404). May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (PubMed:12724404). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier. Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity).
messages: Component of a Sin3A corepressor complex consisting of SIN3A, SAP130, SUDS3/SAP45, SAP180, HDAC1 and HDAC2 (PubMed:12724404). Interacts with ARID4A (PubMed:17043311). Interacts with AR (By similarity).
messages: Cytoplasm
messages: Highly expressed in the testis and in breast, lung, colon, pancreatic and ovarian cancers. Expressed at low levels in the thymus, prostate and ovary.
messages: Nucleus
messages: The ARID domain is involved in stabilizing the mSin3A corepressor complex on DNA.
messages: The C-terminus mediates interaction with mSin3A corepressor complex.
messages: The N-terminus is involved in transcriptional repression by HDAC-independent mechanisms.

9606:DSE
gene id: 9606:DSE
uniprot id: A0A2R8YE23
uniprot id: A0A2U3TZJ0
uniprot id: B7Z765
uniprot id: Q9UL01
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Also has weak activity in the presence of Mg(2+) or Ca(2+) ions.
messages: Belongs to the dermatan-sulfate isomerase family.
messages: Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate.
messages: Cytoplasmic vesicle membrane
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Microsome membrane
messages: N-glycosylated (PubMed:19004833, Ref.7). Glycosylation is important for enzymatic activity (PubMed:19004833).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed with higher expression in kidney and ovary and lower expression in brain, colon and thymus. Also expressed in renal cell carcinomas, brain tumors, and in a part of melanomas and adenocarcinomas from organs other than the breast. Expressed in squamous cell carcinomas (SCC), glioma, and some adenocarcinoma cell lines, but not in breast cancer cell lines or any normal tissues (at protein level).

9606:RPL21
gene id: 9606:RPL21
uniprot id: P46778
uniprot id: Q6IAX2
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eukaryotic ribosomal protein eL21 family.
messages: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680).
messages: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680).
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol

9606:APTX
gene id: 9606:APTX
uniprot id: Q7Z2E3
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567). Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity).
messages: Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT/PARP1 and p53/TP53 (PubMed:14755728, PubMed:15380105, PubMed:15044383, PubMed:16777843). Interacts with NCL (PubMed:15044383, PubMed:16777843). Interacts (via FHA-like domain) with MDC1 (phosphorylated) (PubMed:20008512).
messages: Major form.
messages: May be an aberrant isoform present in cancer cell lines.
messages: Minor form.
messages: The C2H2-type zinc finger mediates DNA-binding.
messages: The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.
messages: The HIT domain is required for enzymatic activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.
messages: Widely expressed; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely expressed; detected throughout the brain, in liver, kidney, skeletal muscle, fibroblasts, lymphocytes and pancreas (PubMed:15276230, PubMed:11586299, PubMed:11586300).
messages: nucleolus
messages: nucleoplasm

9606:ULK4
gene id: 9606:ULK4
uniprot id: Q96C45
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily.
messages: Expressed in the brain, mainly in postmitotic neurons, including GABAergic neurons, but not in astrocytes (at protein level).
messages: May be involved in the remodeling of cytoskeletal components, such as alpha-tubulin, and in this way regulates neurite branching and elongation, as well as cell motility.
messages: The protein kinase domain is predicted to be catalytically inactive.
messages: Up-regulated during neuronal differentiation of neuroblastoma cells treated with all-trans or 9-cis retinoic acid.
messages: Various anomalies in ULK4 gene have been reported for several cases of schizophrenia, schizophrenia plus bipolar disorder and autism. ULK4 gene has been proposed to be a rare susceptibility risk factor for a range of psychiatric diseases including schizophrenia.

9606:SLC10A6
gene id: 9606:SLC10A6
uniprot id: Q3KNW5
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.
messages: Glycosylated.
messages: Highly expressed in testis, placenta and pancreas. Moderately expressed in heart, lung and mammary gland. Weakly expressed in brain, colon, kidney, liver, ovary, prostate, small intestine, spleen and thymus.
messages: In humans, 3-beta-sulfooxy-androst-5-en-17-one (DHEAS) is the most abundant circulating steroid sulfate in the human body, it is mainly synthesized from adrenal glands and gonads, whereas rats and mice have low circulating concentrations of DHEAS in the periphery as they can only produce DHEAS in their gonads.
messages: Membrane
messages: Transports sulfoconjugated steroid hormones from the extracellular compartment into the cytosol in a sodium-dependent manner without hydrolysis (PubMed:17491011, PubMed:23667501, PubMed:24717977, PubMed:28951227). Steroid sulfate hormones are commonly considered to be biologically inactive metabolites, that may be activated by steroid sulfatases into free steroids (PubMed:23667501, PubMed:24717977). May play an important role by delivering sulfoconjugated steroids to specific target cells in reproductive organs (By similarity). May play a role transporting the estriol precursor 16alpha-hydroxydehydroepiandrosterone 3-sulfate (16a-OH-DHEAS) at the fetal blood vessel endothelium (PubMed:24717977). Can also transport other sulfoconjugated molecules such as taurolithocholic acid-3-sulfate and sulfoconjugated pyrenes (PubMed:17491011).

9606:ZBTB8OS
gene id: 9606:ZBTB8OS
uniprot id: A0A8C8MQ05
uniprot id: A8K0B5
uniprot id: D3DPQ2
uniprot id: Q8IWT0
names: Function
names: Similarity
names: Subunit
messages: Belongs to the archease family.
messages: Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB. Together with DDX1, acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation.
messages: Component of the tRNA-splicing ligase complex.

9606:SPAG6
gene id: 9606:SPAG6
uniprot id: O75602
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Highly expressed in testis.
messages: Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility.
messages: Interacts with SPAG16 and SPAG17.
messages: cilium axoneme
messages: cytoskeleton
messages: flagellum

9606:HNRNPA3
gene id: 9606:HNRNPA3
uniprot id: A0A384NL63
uniprot id: A0A7I2V2R3
uniprot id: B4DDB6
uniprot id: P51991
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: An older version of this entry represented the conceptual translation of what was thought to be HNRNPA3 but which was in fact a pseudogene (HNRPA3P1/FBRNP) located on chromosome 10.
messages: Identified in the spliceosome C complex.
messages: Nucleus
messages: Plays a role in cytoplasmic trafficking of RNA. Binds to the cis-acting response element, A2RE. May be involved in pre-mRNA splicing.

9606:ATP12A
gene id: 9606:ATP12A
uniprot id: B4E0R9
uniprot id: P54707
names: Activity Regulation
names: Caution
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
messages: Cell membrane
messages: Expressed in airway epithelial cells (at protein level) (PubMed:29391451). Found in skin and kidney. Detected in prostate basal cells (at protein level). Expression is increased in benign prostate hyperplasia and tumor tissues (at protein level).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: The ATPase activity is regulated by monovalent cations and pH. Up-regulated by K(+) ions in a dose-dependent way. Down-regulated by Na(+) ions (PubMed:11341842). Inhibited by Na(+)/K(+)-ATPase inhibitor ouabain and H(+)/K(+)-ATPase inhibitor SCH-28080 with an intermediate sensitivity to completely resistant Na(+)/K(+)-ATPases and highly sensitive H(+)/K(+)-ATPases (PubMed:7485470, PubMed:8853415, PubMed:11341842).
messages: The ATPase pump is composed of a catalytic alpha subunit and an auxiliary non-catalytic beta subunit. The alpha subunit pairs with the beta subunit of gastric H(+)/K(+) ATPase ATP4B or the beta subunit of Na(+)/K(+) ATPases ATP1B1 and ATP1B3; this interaction is required for the formation of a functionally active pump and its targeting at the plasma membrane.
messages: The catalytic subunit of a H(+)/K(+) ATPase and/or Na(+)/K(+) ATPase pump which transports K(+) ions in exchange for Na(+) and/or H(+) ions across the apical membrane of epithelial cells. Uses ATP as an energy source to pump K(+) ions into the cell while transporting Na(+) and/or H(+) ions to the extracellular compartment (PubMed:9774385, PubMed:7485470, PubMed:8853415, PubMed:11341842). Involved in the maintenance of electrolyte homeostasis through K(+) ion absorption in kidney and colon (By similarity). In the airway epithelium, may play a primary role in mucus acidification regulating its viscosity and clearance (PubMed:29391451).
messages: Up-regulated by inflammatory cytokine IL13.

9606:PLA2G12A
gene id: 9606:PLA2G12A
uniprot id: Q542Y6
uniprot id: Q9BZM1
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas.
messages: Belongs to the phospholipase A2 family.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Cytoplasm
messages: PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl-phosphatidylcholine or -phosphatidylethanolamine.
messages: Secreted

9606:GMCL1
gene id: 9606:GMCL1
uniprot id: Q96IK5
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with TMPO-beta, TSG101 and TFDP2 (By similarity). Interacts with EMD.
messages: Nucleus matrix
messages: Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity).

9606:NPAS2
gene id: 9606:NPAS2
uniprot id: Q99743
names: Activity Regulation
names: Function
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
messages: Carbon monoxide (CO) and the redox state of the cell can modulate the transcriptional activity of the NPAS2-BMAL1 heterodimer. NADH and NADPH enhance the DNA-binding activity of the heterodimer whereas CO binds the heme group in NPAS2 and inhibits the DNA-binding activity of the heterodimer.
messages: Component of the circadian clock oscillator which includes the CRY proteins, CLOCK or NPAS2, BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins. Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with BMAL1 and this heterodimerization is required for E-box-dependent transactivation. Interacts with NCOA3, KAT2B, CREBBP and EP300.
messages: Nucleus
messages: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a …
messages: Variants in NPAS2 show a susceptibility to seasonal affective disorder (SAD) [MIM:608516]. SAD is a depressive condition resulting from seasonal changes, and with diurnal preference.

9606:LHFPL4
gene id: 9606:LHFPL4
uniprot id: Q7Z7J7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the LHFP family.
messages: Interacts with GABA(A) receptor subunits (PubMed:28978485). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity). Interacts with GABRB3 (By similarity). Interacts with GABRA2 (By similarity). Interacts with GABRG2 (By similarity). Interacts with GABRA1 (PubMed:28978485). Interacts with NLGN2; leading to mutual regulation of protein level and synaptic clustering (By similarity).
messages: Plays a role in the regulation of inhibitory synapse formation and function by being involved in maintening gamma-aminobutyric acid receptors (GABAARs) clustering and their associated scaffold proteins at inhibitory synaptic sites. Acts in concert with NLGN2 to recruit or stabilize GABAARs.
messages: Postsynaptic cell membrane
messages: dendrite

9606:GNRHR
gene id: 9606:GNRHR
uniprot id: P30968
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Pituitary, ovary, testis, breast and prostate but not in liver and spleen.
messages: Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling.
messages: The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in GNRHR as well as in other HH-associated genes including FGFR1 (PubMed:23643382).

9606:HMGB1
gene id: 9606:HMGB1
uniprot id: A0A024RDR0
uniprot id: P09429
names: Caution
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Critical for entry of human coronaviruses SARS-CoV and SARS-CoV-2, as well as human coronavirus NL63/HCoV-NL63 (PubMed:33147444). Regulates the expression of the pro-viral genes ACE2 and CTSL through chromatin modulation (PubMed:33147444). Required for SARS-CoV-2 ORF3A-induced reticulophagy which induces endoplasmic reticulum stress and inflammatory responses and facilitates viral infection (PubMed:35239449).
messages: (Microbial infection) Interacts with SARS-CoV-2 ORF3A protein; the interaction promotes association of HMGB1 with BECN1, promoting reticulophagy which induces endoplasmic reticulum stress and inflammatory responses and facilitates viral infection.
messages: (Microbial infection) Interacts with adenovirus protein pVII; this interaction immobilizes HMGB1 on chromatin, thus preventing its release from cell and subsequent inflammation activation.
messages: (Microbial infection) Protein levels increase upon infection by human coronavirus SARS-CoV-2.
messages: Acetylated on multiple sites upon stimulation with LPS (PubMed:22801494). Acetylation on lysine residues in the nuclear localization signals (NLS 1 and NLS 2) leads to cytoplasmic localization and subsequent secretion (By similarity). Acetylation on Lys-3 results in preferential binding to DNA ends and impairs DNA bending activity (By similarity).
messages: Belongs to the HMGB family.
messages: Cell membrane
messages: Chromosome
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Endoplasmic reticulum-Golgi intermediate compartment
messages: Endosome
messages: Forms covalent cross-links mediated by transglutaminase TGM2, between a glutamine and the epsilon-amino group of a lysine residue, forming homopolymers and heteropolymers.
messages: HMG box 2 mediates pro-inflammatory cytokine-stimulating activity and binding to TLR4 (PubMed:12765338, PubMed:20547845). However, not involved in mediating immunogenic activity in the context of apoptosis-induced immune tolerance (PubMed:24474694).
messages: In the cytoplasm proposed to dissociate the BECN1:BCL2 complex via competitive interaction with BECN1 leading to autophagy activation (PubMed:20819940). Involved in oxidative stress-mediated autophagy (PubMed:21395369). Can protect BECN1 and ATG5 from calpain-mediated cleavage and thus proposed to control their proautophagic and proapoptotic functions and to regulate the extent and severity of inflammation-associated cellular injury (By similarity). In myeloid cells has a protective role against endotoxemia and bacterial infection by promoting autophagy (By similarity). Involved in endosomal translocation and activation of TLR9 in response to CpG-DNA in macrophages (By similarity).
messages: In the extracellular compartment (following either active secretion or passive release) involved in regulation of the inflammatory response. Fully reduced HGMB1 (which subsequently gets oxidized after release) in association with CXCL12 mediates the recruitment of inflammatory cells during the initial phase of tissue injury; the CXCL12:HMGB1 complex triggers CXCR4 homodimerization (PubMed:22370717). Induces the migration of monocyte-derived immature dendritic cells and seems to regulate adhesive and migratory functions of neutrophils implicating AGER/RAGE and ITGAM (By similarity). Can bind to various types of DNA and RNA including microbial unmethylated CpG-DNA to enhance the innate immune response to nucleic acids. Proposed to act in promiscuous DNA/RNA sensing which cooperates with subsequent discriminative sensing by specific pattern recognition receptors (By similarity). Promotes extracellular DNA-induced AIM2 inflammasome activation implicating AGER/RAGE (PubMed:24971542). Disulfide HMGB1 binds to transmembrane receptors, such as AGER/RAGE, TLR2, TLR4 and probably TREM1, thus activating their signal transduction pathways. Mediates the release of cytokines/chemokines such as TNF, IL-1, IL-6, IL-8, CCL2, CCL3, CCL4 and CXCL10 (PubMed:12765338, PubMed:18354232, PubMed:19264983, PubMed:20547845, PubMed:24474694). Promotes secretion of interferon-gamma by macrophage-stimulated natural killer (NK) cells in concert with other cytokines like IL-2 or IL-12 (PubMed:15607795). TLR4 is proposed to be the primary receptor promoting macrophage activation and signaling through TLR4 seems to implicate LY96/MD-2 (PubMed:20547845). In bacterial LPS- or LTA-mediated inflammatory responses binds to the endotoxins and transfers them to CD14 for signaling to the respective TLR4:LY96 and TLR2 complexes (PubMed:18354232, PubMed:21660935, PubMed:25660311). Contributes to tumor proliferation by association with ACER/RAGE (By similarity). Can bind to IL1-beta and signals through the IL1…
messages: In vitro cleavage by CASP1 is liberating a HMG box 1-containing peptide which may mediate immunogenic activity; the peptide antagonizes apoptosis-induced immune tolerance (PubMed:24474694). Can be proteolytically cleaved by a thrombin:thrombomodulin complex; reduces binding to heparin and pro-inflammatory activities (By similarity).
messages: Inconsistent experimental results may reflect the use of inconsistently defined redox forms. A recombinant fully reduced form has been used in a number of experiments. However, the redox states of HMGB1 administered in vivo, may interconvert among each other. Purified HMGB1 by itself has only weak pro-inflammatory activity.
messages: Interacts (fully reduced HMGB1) with CXCL12; probably in a 1:2 ratio involving two molecules of CXCL12, each interacting with one HMG box of HMGB1; inhibited by glycyrrhizin (PubMed:22370717). Associates with the TLR4:LY96 receptor complex (PubMed:20547845). Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or HMGB2 (By similarity). Interacts (in cytoplasm upon starvation) with BECN1; inhibits the interaction of BECN1 and BCL2 leading to promotion of autophagy (PubMed:20819940). Interacts with KPNA1; involved in nuclear import (PubMed:17114460). Interacts with SREBF1, TLR2, TLR4, TLR9, PTPRZ1, APEX1, FEN1, POLB, TERT (By similarity). Interacts with IL1B, AGER, MSH2, XPA, XPC, HNF1A, TP53 (PubMed:15014079, PubMed:18250463, PubMed:18160415, PubMed:19446504, PubMed:24474694, PubMed:23063560). Interacts with CD24; the probable CD24:SIGLEC10 complex is proposed to inhibit HGMB1-mediated tissue damage immune response (PubMed:19264983). Interacts with THBD; prevents HGMB1 interaction with ACER/RAGE and inhibits HGMB1 pro-inflammatory activity (PubMed:15841214). Interacts with HAVCR2; impairs HMGB1 binding to B-DNA and likely HMGB1-mediated innate immune response (By similarity). Interacts with XPO1; mediating nuclear export (By similarity). Interacts with HTT (wild-type and mutant HTT with expanded polyglutamine repeat) (PubMed:23303669).
messages: Multifunctional redox sensitive protein with various roles in different cellular compartments. In the nucleus is one of the major chromatin-associated non-histone proteins and acts as a DNA chaperone involved in replication, transcription, chromatin remodeling, V(D)J recombination, DNA repair and genome stability (PubMed:33147444). Proposed to be an universal biosensor for nucleic acids. Promotes host inflammatory response to sterile and infectious signals and is involved in the coordination and integration of innate and adaptive immune responses. In the cytoplasm functions as sensor and/or chaperone for immunogenic nucleic acids implicating the activation of TLR9-mediated immune responses, and mediates autophagy. Acts as danger associated molecular pattern (DAMP) molecule that amplifies immune responses during tissue injury (PubMed:27362237). Released to the extracellular environment can bind DNA, nucleosomes, IL-1 beta, CXCL12, AGER isoform 2/sRAGE, lipopolysaccharide (LPS) and lipoteichoic acid (LTA), and activates cells through engagement of multiple surface receptors. In the extracellular compartment fully reduced HMGB1 (released by necrosis) acts as a chemokine, disulfide HMGB1 (actively secreted) as a cytokine, and sulfonyl HMGB1 (released from apoptotic cells) promotes immunological tolerance (PubMed:23519706, PubMed:23446148, PubMed:23994764, PubMed:25048472). Has proangiogdenic activity (By similarity). May be involved in platelet activation (By similarity). Binds to phosphatidylserine and phosphatidylethanolamide (By similarity). Bound to RAGE mediates signaling for neuronal outgrowth (By similarity). May play a role in accumulation of expanded polyglutamine (polyQ) proteins such as huntingtin (HTT) or TBP (PubMed:23303669, PubMed:25549101).
messages: Nuclear functions are attributed to fully reduced HGMB1. Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA, DNA-containing cruciforms or bent structures, supercoiled DNA and ZDNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bringing distant regulatory sequences into close proximity (PubMed:20123072). May have an enhancing role in nucleotide excision repair (NER) (By similarity). However, effects in NER using in vitro systems have been reported conflictingly (PubMed:19446504, PubMed:19360789). May be involved in mismatch repair (MMR) and base excision repair (BER) pathways (PubMed:15014079, PubMed:16143102, PubMed:17803946). May be involved in double strand break repair such as non-homologous end joining (NHEJ) (By similarity). Involved in V(D)J recombination by acting as a cofactor of the RAG complex: acts by stimulating cleavage and RAG protein binding at the 23 bp spacer of conserved recombination signal sequences (RSS) (By similarity). In vitro can displace histone H1 from highly bent DNA (By similarity). Can restructure the canonical nucleosome leading to relaxation of structural constraints for transcription factor-binding (By similarity). Enhances binding of sterol regulatory element-binding proteins (SREBPs) such as SREBF1 to their cognate DNA sequences and increases their transcriptional activities (By similarity). Facilitates binding of TP53 to DNA (PubMed:23063560). Proposed to be involved in mitochondrial quality control and autophagy in a transcription-dependent fashion implicating HSPB1; however, this function has been questioned (By similarity). Can modulate the activity of the telomerase complex and may be involved in telomere maintenance (By similarity).
messages: Nucleus
messages: Phosphorylated at serine residues. Phosphorylation in both NLS regions is required for cytoplasmic translocation followed by secretion (PubMed:17114460).
messages: Poly-ADP-ribosylated by PARP1 when secreted following stimulation with LPS (By similarity).
messages: Proposed to contribute to the pathogenesis of various chronic inflammatory and autoimmune diseases, and cancer. High serum levels are found in several inflammatory events including sepsis, rheumatoid arthritis, artherosclerosis chronic kidney disease, systemic lupus erythematosus (SLE). Seems to be implicated in other diseases characterized by cell death and damage, including diabetes and Alzheimer's disease. Its nucleosome-associated release during secondary necrosis may play a role in SLE (PubMed:19064698). During chemotherapy can mediate regrowth and metastasis of remaining cells in a AGER/RAGE-dependent manner (PubMed:23040637). Purified HMG box 1 acts as a specific antagonist to HGMB1 pro-inflammatory activities (PubMed:14695889).
messages: Reduction/oxidation of cysteine residues Cys-23, Cys-45 and Cys-106 and a possible intramolecular disulfide bond involving Cys-23 and Cys-45 give rise to different redox forms with specific functional activities in various cellular compartments: 1- fully reduced HMGB1 (HMGB1C23hC45hC106h), 2- disulfide HMGB1 (HMGB1C23-C45C106h) and 3- sulfonyl HMGB1 (HMGB1C23soC45soC106so).
messages: Secreted
messages: The acidic C-terminal domain forms a flexible structure which can reversibly interact intramolecularily with the HMG boxes and modulate binding to DNA and other proteins (PubMed:23063560).
messages: Ubiquitous. Expressed in platelets (PubMed:11154118).

9606:CACNA1G
gene id: 9606:CACNA1G
uniprot id: O43497
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
messages: Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral cells to a lesser extent. Highly expressed in fetal brain, but also in peripheral fetal tissues as heart, kidney and lung, suggesting a developmentally regulated expression.
messages: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
messages: Isoform 4, isoform 7, isoform 18, isoform 19, isoform 24, isoform 25 and isoform 31 are adult-specific. Isoform 8, isoform 14, isoform 15, isoform 16, isoform 17, isoform 20, isoform 21, isoform 22, isoform 23, isoform 26, isoform 27, isoform 28, isoform 29 and isoform 30 are fetal-specific. Isoform 1, isoform 2, isoform 6, isoform 9, isoform 11, isoform 12 and isoform 13 are expressed in both fetus and adult.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The linker region between repeat III and IV probably plays a role in the inactivation of the channel. The C-terminal part may be implicated in the anchoring of the protein to the membrane by interfering with or restricting its lateral diffusion.
messages: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes.

9606:MAGEA6
gene id: 9606:MAGEA6
uniprot id: P43360
names: Caution
names: Function
names: PTM
names: Subunit
names: Tissue Specificity
messages: Activator of ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases that acts as a as repressor of autophagy (PubMed:31267705, PubMed:17942928, PubMed:20864041). May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex (PubMed:17942928, PubMed:20864041). May play a role in tumor transformation or aspects of tumor progression (PubMed:17942928, PubMed:20864041). In vitro promotes cell viability in melanoma cell lines (PubMed:17942928).
messages: Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes.
messages: In vitro experiments measuring cell viability in melanoma cell lines used siRNA specific for MAGEA3 and MAGEA6.
messages: Interacts with TRIM28.
messages: Ubiquitinated by the DCX(DCAF12) complex specifically recognizes the diglutamate (Glu-Glu) at the C-terminus, leading to its degradation.

9606:XPO6
gene id: 9606:XPO6
uniprot id: Q96QU8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the exportin family.
messages: Cytoplasm
messages: Found in a complex with XPO6, Ran, ACTB and PFN1. Interacts with ACTB (PubMed:14592989). Interacts with ACTB in a RanGTP-dependent manner (PubMed:14592989).
messages: Mediates the nuclear export of actin and profilin-actin complexes in somatic cells.
messages: Nucleus

9606:UBE2N
gene id: 9606:UBE2N
uniprot id: P61088
uniprot id: V9HW41
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Activity is inhibited by binding to OTUB1, which prevents 'Lys-63'-linked polyubiquitination (PubMed:20725033, PubMed:22325355, PubMed:22367539). Activity is inhibited by GPS2, leading to prevent 'Lys-63'-linked polyubiquitination (By similarity).
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: Conjugation to ISG15 impairs formation of the thioester bond with ubiquitin but not interaction with UBE2V2.
messages: Cytoplasm
messages: Heterodimer with UBE2V2 (PubMed:10089880, PubMed:11473255, PubMed:14562038, PubMed:16307917, PubMed:16307917). Interacts (UBE2V2-UBE2N heterodimer) with the E3 ligase STUB1 (via the U-box domain); the complex has a specific 'Lys-63'-linked polyubiquitination activity (PubMed:16307917). Interacts with RNF8 and RNF168 (PubMed:16215985, PubMed:19203578). Interacts with RNF11 (PubMed:18615712). Interacts with the E3 ligases, HLTF and SHPRH; the interactions promote the 'Lys-63'-linked polyubiquitination of PCNA upon genotoxic stress and lead to DNA repair (PubMed:17108083, PubMed:17130289, PubMed:18316726, PubMed:18719106). Interacts with ARIH2 (via RING-type 2) (PubMed:19340006). Interacts with OTUB1; leading to inhibit E2-conjugating activity (PubMed:20725033, PubMed:22325355, PubMed:22367539). Interacts with GPS2; leading to inhibit E2-conjugating activity (By similarity). Interacts with RIGI and RNF135; involved in RIGI ubiquitination and activation (PubMed:28469175).
messages: Nucleus
messages: The UBE2V1-UBE2N and UBE2V2-UBE2N heterodimers catalyze the synthesis of non-canonical 'Lys-63'-linked polyubiquitin chains. This type of polyubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the 'Lys-63'-linked poly-ubiquitination of PCNA upon genotoxic stress, which is required for DNA repair. Appears to act together with E3 ligase RNF5 in the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate 'Lys-63'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes. Together with RNF135 and UB2V1, catalyzes the viral RNA-dependent 'Lys-63'-linked polyubiquitination of RIGI to activate the downstream signaling pathway that leads to interferon beta production (PubMed:28469175, PubMed:31006531). UBE2V1-UBE2N together with TRAF3IP2 E3 ubiquitin ligase mediate 'Lys-63'-linked polyubiquitination of TRAF6, a component of IL17A-mediated signaling pathway.

9606:ARHGEF11
gene id: 9606:ARHGEF11
uniprot id: O15085
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Interacts with GNA12 and GNA13 through the RGS domain. Interacts with RHOA, PLXNB1 and PLXNB2. Interacts with SLC1A6 (By similarity). Interacts (via DH domain) with GCSAM (via C-terminus).
messages: May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. Involved in neurotrophin-induced neurite outgrowth.
messages: Membrane
messages: Phosphorylated by MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14).
messages: The poly-Pro region is essential for plasma membrane localization upon stimulation.
messages: Ubiquitinated by the BCR(KLHL20) E3 ubiquitin ligase complex when previously phosphorylated by MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14), leading to its degradation, thereby restricting RhoA activity and facilitating growth cone spreading and neurite outgrowth.
messages: Ubiquitously expressed.

9606:RBBP8
gene id: 9606:RBBP8
uniprot id: A0A024RC34
uniprot id: Q99708
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the COM1/SAE2/CtIP family.
messages: Chromosome
messages: Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway (PubMed:17965729, PubMed:19202191, PubMed:19759395, PubMed:20064462, PubMed:26721387). HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse (PubMed:17965729, PubMed:19202191). Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ) (PubMed:19202191). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA (PubMed:16581787, PubMed:17965729, PubMed:19759395, PubMed:20064462). Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage (PubMed:15485915, PubMed:16818604). During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations (By similarity).
messages: Expressed in ER-positive breast cancer lines, but tends to be down-regulated ER-negative cells (at protein level).
messages: Expression is cell-cycle regulated. Levels increase as dividing cells traverse the G1/S boundary (PubMed:18171986). The protein is degraded by the proteasome pathway during mitotic exit. Also degraded in response to DNA damage in G2 cells; this degradation is mediated by the E3 FZR1/APC/C complex (PubMed:25349192).
messages: Genetic variability in RBBP8 is noted as a factor in BRCA1-associated breast cancer risk (PubMed:21799032). Associated with sensitivity to tamoxifen in certain breast cancer cell lines (PubMed:18171986).
messages: Homodimer; dimerizes via the coiled coil domain (PubMed:15084581). Interacts (via the PXDLS motif) with CTBP1; the interaction is disrupted via binding of the adenovirus E1A to CTBP1 (PubMed:9535825). Component of the BRCA1-RBBP8 complex. Interacts (the Ser-327 phosphorylated form) with BRCA1 (via the C-terminal BRCA1 domains): the interaction occurs in the G2 phase, ubiquitinates RBBP8 and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage (PubMed:10764811, PubMed:15485915, PubMed:16818604, PubMed:17965729, PubMed:23623683). Interacts with RB1 (PubMed:9721205). Interacts with the MRN complex. Interacts directly with MRE11; the interaction is required for efficient homologous recombination (HR) and regulation of the MRN complex (PubMed:19759395, PubMed:23623683). Interacts directly with RAD50 (PubMed:19759395). Interacts directly with NBN (PubMed:19759395). Interacts with LM04 (via the LIM zinc-binding 1 domain) (PubMed:11751867). Interacts with SIAH1 (PubMed:14654780). Interacts with RNF138 (PubMed:26502057). Interacts with EXD2 (PubMed:26807646). Interacts with CUL3 and KLHL15; this interaction leads to RBBP8 proteasomal degradation (PubMed:27561354). Directly interacts with PIN1; this interaction depends upon RBBP8 phosphorylation, predominantly at Thr-315 (PubMed:23623683). Interacts with FZR1; this interaction leads to APC/C-mediated RBBP8 proteasomal degradation (PubMed:25349192). Interacts with AUNIP; leading to recruit RBBP8 to sites of DNA damage (PubMed:29042561, PubMed:10764811, PubMed:11751867, PubMed:14654780, PubMed:15084581, PubMed:15485915, PubMed:16818604, PubMed:17965729, PubMed:19759395, PubMed:23623683, PubMed:25349192, PubMed:26502057, PubMed:26807646, PubMed:27561354, PubMed:9535825, PubMed:9721205). Interacts with SAMHD1 (PubMed:28834754). Interacts with HDGFL2 (PubMed:26721387).
messages: Hyperphosphorylation upon ionizing radiation results in dissociation from BRCA1. Phosphorylation at Thr-847 by CDK1 is essential for the recruitment to DNA and the DNA repair function. Phosphorylated on Ser-327 as cells enter G2 phase. This phosphorylation is required for binding BRCA1 and for the G2/M DNA damage transition checkpoint control. Phosphorylation at Thr-315, probably catalyzed by CDK2, is required for PIN1-binding, while phosphorylation at Ser-276 serves as a PIN1 isomerization site. Phosphorylation at Thr-315 is cell-cycle dependent. It steadily increases during S phase, peaks at late S/G2 phase, and drops at G1 (PubMed:23623683).
messages: Nucleus
messages: The PXDLS motif binds to a cleft in CtBP proteins.
messages: The damage-recruitment motif is required for DNA binding and translocation to sites of DNA damage.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated (PubMed:14654780, PubMed:16818604, PubMed:27561354). Ubiquitination at multiple sites by BRCA1 (via its N-terminal RING domain) does not lead to its proteasomal degradation but instead the ubiquitinated RBBP8 binds to chromatin following DNA damage and may play a role in G2/M checkpoint control (PubMed:16818604). Ubiquitinated by RNF138 at its N-terminus (PubMed:26502057). Ubiquitinated through 'Lys-48' by the E3 CUL3-KLHL15 complex; this modification leads to proteasomal degradation (PubMed:27561354, PubMed:35219381). Ubiquitinated by the E3 FZR1/APC/C complex; this modification leads to proteasomal degradation (PubMed:25349192).
messages: Upon DNA damage, was shown to interact with SIRT6 resulting in its deacetylation. However, this study was later retracted.

9606:HOXB5
gene id: 9606:HOXB5
uniprot id: P09067
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the Antp homeobox family.
messages: Embryo.
messages: Nucleus
messages: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
messages: Spinal cord.

9606:TDRD3
gene id: 9606:TDRD3
uniprot id: A0A024QZE0
uniprot id: Q9H7E2
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of mRNA stress granules. Interacts with FMR1, FXR1, FXR2, EWSR1, FUS, SERBP1, EEF1A1 and DDX3X or DDX3Y, and with the small nuclear ribonucleoprotein-associated proteins SNRPB and SNRPN. Interacts with 'Lys-48'-linked tetra-ubiquitin, but not with monoubiquitin or 'Lys-63'-linked ubiquitin chains. May interact with the exon junction complex (EJC) composed at least of CASC3, EIF4A3, MAGOH and RBM8A. Interacts with POLR2A (via the C-terminal domain (CTD)).
messages: Cytoplasm
messages: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
messages: Nucleus
messages: Scaffolding protein that specifically recognizes and binds dimethylarginine-containing proteins. In nucleus, acts as a coactivator: recognizes and binds asymmetric dimethylation on the core histone tails associated with transcriptional activation (H3R17me2a and H4R3me2a) and recruits proteins at these arginine-methylated loci. In cytoplasm, may play a role in the assembly and/or disassembly of mRNA stress granules and in the regulation of translation of target mRNAs by binding Arg/Gly-rich motifs (GAR) in dimethylarginine-containing proteins.
messages: The Tudor domain specifically recognizes and binds asymmetric dimethylation of histone H3 'Arg-17' (H3R17me2a) and histones H4 'Arg-3', 2 tags for epigenetic transcriptional activation.

9606:EID1
gene id: 9606:EID1
uniprot id: Q9Y6B2
names: Developmental Stage
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Down-regulated in differentiating U-937 leukemia cells.
messages: Expression decreased with development in ventricular tissue while remaining highly expressed in adult atrial tissue. In primary cultures of human skeletal myocytes, expression decreased during myogenic differentiation (at protein level).
messages: Inhibition of MYOD1 may be partly due to the ability of EID1 to bind and inhibit EP300 histone acetyltransferase activity.
messages: Interacts via its LXCXE motif with the entire pocket region of RB1. Interacts with EP300, NR0B2 and TRIM27.
messages: Interacts with RB1 and EP300 and acts as a repressor of MYOD1 transactivation. Inhibits EP300 and CBP histone acetyltransferase activity. May be involved in coupling cell cycle exit to the transcriptional activation of genes required for cellular differentiation. May act as a candidate coinhibitory factor for NR0B2 that can be directly linked to transcription inhibitory mechanisms.
messages: Nucleus
messages: Ubiquitinated in U2OS osteosarcoma cells and is rapidly degraded by proteasome as cells exit the cell cycle exit.
messages: Widely expressed. Most abundantly expressed in heart, skeletal muscle, pancreas, brain and testis. Expressed at much lower levels in placenta and peripheral blood leukocyte. Barely detectable in lung. Also weakly expressed in lung carcinoma A-549 and various leukemia cell lines.

9606:CFAP97D2
gene id: 9606:CFAP97D2
uniprot id: A0A2R8Y7J0
names: Similarity
messages: Belongs to the CFAP97 family.

9606:PTPRF
gene id: 9606:PTPRF
uniprot id: P10586
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily.
messages: Interacts with GRIP1 (By similarity). Interacts with PPFIA1, PPFIA2 and PPFIA3. Interacts with INSR.
messages: Membrane
messages: Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.

9606:ZNF343
gene id: 9606:ZNF343
uniprot id: Q6P1L6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:MAGEL2
gene id: 9606:MAGEL2
uniprot id: Q9UJ55
names: Disease Annotation
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Early endosome
messages: Expressed in placenta, fetal and adult brain. Not detected in heart and small intestine, very low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient.
messages: Imprinted, expressed from the paternal chromosome only.
messages: Nucleus
messages: Part of a complex consisting of MAGEL2, TRIM27 and USP7; directly interacts with USP7 (PubMed:26365382). Interacts with TRIM27 (PubMed:23452853). Interacts with VPS35; leading to recruitment at retromer-containing endosomes (PubMed:23452853). Interacts with BMAL1 and PER2 (By similarity).
messages: Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly (PubMed:23452853). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry. All mutations occurred on the paternal allele.

9606:ABHD16A
gene id: 9606:ABHD16A
uniprot id: A0A1U9X777
uniprot id: B3KNX9
uniprot id: O95870
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the AB hydrolase superfamily. ABHD16 family.
messages: Inhibited by beta-lactone-based lipid inhibitors, such as beta-lactone palmostatin-B.
messages: Membrane
messages: Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS) (By similarity). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (By similarity). Has no activity towards diacylglycerol, triacylglycerol or lysophosphatidylserine lipase (PubMed:25290914). Also has monoacylglycerol lipase activity, with preference for 1-(9Z,12Z-octadecadienoyl)-glycerol (1-LG) and 2-glyceryl-15-deoxy-Delta(12,14)-prostaglandin J2 (15d-PGJ(2)-G) (PubMed:25290914).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MMGT1
gene id: 9606:MMGT1
uniprot id: Q8N4V1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the membrane magnesium transporter (TC 1.A.67) family.
messages: Component of the ER membrane protein complex (EMC).
messages: Early endosome membrane
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:30415835, PubMed:29809151, PubMed:29242231, PubMed:32459176, PubMed:32439656). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:30415835, PubMed:29809151, PubMed:29242231). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:30415835, PubMed:29809151). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29809151, PubMed:29242231). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (By similarity). May be involved in Mg(2+) transport (By similarity).

9606:MUCL1
gene id: 9606:MUCL1
uniprot id: Q96DR8
names: Function
names: PTM
names: Polymorphism
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in mammary, salivary glands and prostate. Also detected in lung. Mainly expressed in cancer cell lines of breast origin. Highly expressed in lymph node-positive compared with node-negative tumors. Detected in all lymph node containing metastatic cells.
messages: May play a role as marker for the diagnosis of metastatic breast cancer.
messages: Membrane
messages: O-glycosylated.
messages: Secreted
messages: The number of repeats varies from 3 to 2 in one variant form which is equally present in breast cancer tumors.

9606:ALPK1
gene id: 9606:ALPK1
uniprot id: Q96QP1
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
messages: D-glycero-beta-D-manno-heptose 1,7-bisphosphate (HBP) was initially thought to constitute the bacterial pathogen-associated molecular pattern metabolite (PAMP) triggering the ALPK1-TIFA innate immunune response (PubMed:28877472, PubMed:28222186). It was however shown that ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose) constitutes the main PAMP that activates the kinase activity of ALPK1 (PubMed:30111836).
messages: Highly expressed in liver. Expressed in the optic nerve and retinal pigmented epithelium. Lower expression is observed in the macula and extramacular retina (PubMed:30967659).
messages: Intron retention.
messages: Serine/threonine-protein kinase activity is stimulated upon ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose)-binding.
messages: Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28877472, PubMed:28222186, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering pro-inflammatory NF-kappa-B signaling (PubMed:30111836). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161). May play a role in ciliogenesis (PubMed:30967659).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome
messages: cilium
messages: cytosol
messages: spindle pole

9606:POTEA
gene id: 9606:POTEA
uniprot id: Q6S8J7
names: Similarity
messages: Belongs to the POTE family.

9606:SLC4A11
gene id: 9606:SLC4A11
uniprot id: Q8NBS3
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the anion exchanger (TC 2.A.31) family.
messages: Cell membrane
messages: Expressed in corneal endothelium (at protein level).
messages: Glycosylated.
messages: Homodimer.
messages: Isoforms 1 and 5 correspond to alternative translation start site of the same transcript. There is no evidence that isoform 1 is expressed in primary tissues. It is shown that it is not expressed in cornea, however it is strongly expressed upon transfection into HEK-293 cells.
messages: Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter controlling boron homeostasis (PubMed:15525507). At early stages of stem cell differentiation, participates in synergy with ITGA5-ITGB1 and ITGAV-ITGB3 integrins and BMPR1A to promote cell adhesion and contractility that drives differentiation toward osteogenic commitment while inhibiting adipogenesis (By similarity). In the absence of B(OH)4(-), acts as a Na(+)-coupled OH(-) or H(+) permeable channel with implications in cellular redox balance (PubMed:15525507, PubMed:28642546). Regulates the oxidative stress response in corneal endothelium by enhancing antioxidant defenses and protecting cells from reactive oxygen species (PubMed:28642546). In response to hypo-osmotic challenge, also acts as water permeable channel at the basolateral cell membrane of corneal endothelial cells and facilitates transendothelial fluid reabsorption in the aqueous humor (PubMed:31273259, PubMed:25007886, PubMed:23813972). In the presence of ammonia, acts as an electrogenic NH3/H(+) cotransporter and may play a role in ammonia transport and reabsorption in renal Henle's loop epithelium (PubMed:27581649).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The predominant isoform in corneal endothelium (at protein level).
messages: Up-regulated upon oxidative stress, as it occurs in cells exposed to tert-butyl hydroperoxide.
messages: Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes.

9606:NR4A1
gene id: 9606:NR4A1
uniprot id: A0A024R126
uniprot id: F5GXF0
uniprot id: P22736
uniprot id: Q6ZMM6
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated by p300/CBP, acetylation increases stability. Deacetylated by HDAC1.
messages: Belongs to the nuclear hormone receptor family. NR4 subfamily.
messages: Binds DNA as a monomer (By similarity). Interacts with GADD45GIP1 (PubMed:15459248). Interacts with STK11 (PubMed:22983157). Interacts with IFI27 (PubMed:22427340). Heterodimer (via DNA-binding domain) with RXRA (via C-terminus); DNA-binding of the heterodimer is enhanced by 9-cis retinoic acid (PubMed:17761950, PubMed:15509776). Competes for the RXRA interaction with EP300 and thereby attenuates EP300 mediated acetylation of RXRA (PubMed:17761950).
messages: By growth-stimulating agents.
messages: Cytoplasm
messages: Fetal muscle and adult liver, brain and thyroid.
messages: Mitochondrion
messages: Nucleus
messages: Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'-AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. Participates in energy homeostasis by sequestrating the kinase STK11 in the nucleus, thereby attenuating cytoplasmic AMPK activation. Plays a role in the vascular response to injury (By similarity).
messages: Phosphorylated at Ser-351 by RPS6KA1 and RPS6KA3 in response to mitogenic or stress stimuli.

9606:RILPL2
gene id: 9606:RILPL2
uniprot id: Q969X0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RILPL family.
messages: Homodimer (By similarity). Interacts with RAC1 (By similarity). Interacts (via N-terminus) with MYO5A, the interaction is required for its role in dendrite formation (By similarity). Interacts with RAB8A; interaction is dependent on the phosphorylation of RAB8A on 'Thr-72' (PubMed:29125462). Interacts with RAB10 and RAB12; interaction is dependent on the phosphorylation of 'Thr-73' on RAB10 and 'Ser-105' on RAB12 (PubMed:29125462).
messages: Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). May function via activation of RAC1 and PAK1 (By similarity).
messages: Widely expressed. Expressed at higher level in lung.
messages: centrosome
messages: cilium
messages: cytosol

9606:OR8D1
gene id: 9606:OR8D1
uniprot id: A0A126GVG6
uniprot id: Q8WZ84
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in the tongue.
messages: Membrane
messages: Odorant receptor (Potential). May be involved in taste perception.

9606:TGM3
gene id: 9606:TGM3
uniprot id: Q08188
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Activated by proteolytic processing. In vitro activation is commonly achieved by cleavage with dispase, a neutral bacterial protease. Dispase cleavage site was proposed to lie between Ser-470 and Ser-471 (PubMed:8099584) or between Pro-465 and Phe-466 (PubMed:16565075). Physiological activation may be catalyzed by CTSL and, to a lesser extent, by CTSS, but not by CTSB, CTSD nor CTSV (PubMed:16565075).
messages: Belongs to the transglutaminase superfamily. Transglutaminase family.
messages: Binds 3 Ca(2+) cations per subunit. Binds 1 Ca(2+) as a zymogen, and binds 2 more Ca(2+) cations, or other divalent metal cations, after proteolytic processing.
messages: Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath.
messages: Consists of two polypeptide chains, which are synthesized as a precursor form of a single polypeptide.
messages: Cytoplasm
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:HELQ
gene id: 9606:HELQ
uniprot id: Q8TDG4
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: ATPase activity is strongly stimulated by single-stranded DNA (PubMed:11751861). Presence of ATP and Mg cofactor are required for helicase activity allowing to unwind duplex oligonucleotides up to 60-70-mer (PubMed:11751861). This helicase activity is stimulated by replication protein A (RPA/RP-A) complex that binds to unwound regions and inhibits re-annealing (PubMed:11751861).
messages: Belongs to the helicase family. SKI2 subfamily.
messages: Chromosome
messages: Homodimer (PubMed:34316696). Interacts with POLN (PubMed:19995904). Interacts with RAD51B and RAD51C; promoting association with the BCDX2 complex (PubMed:24005041). Interacts with the replication protein A (RPA/RP-A) complex (PubMed:34316696, PubMed:34937945). Interacts with RAD51; stimulating HELQ DNA helicase activity and ability to unwing DNA (PubMed:34937945).
messages: Nucleus
messages: Single-stranded 3'-5' DNA helicase that plays a key role in homology-driven double-strand break (DSB) repair (PubMed:11751861, PubMed:19995904, PubMed:21398521, PubMed:24005041, PubMed:24005565, PubMed:34316696, PubMed:34937945). Involved in different DSB repair mechanisms that are guided by annealing of extensive stretches of complementary bases at break ends, such as microhomology-mediated end-joining (MMEJ), single-strand annealing (SSA) or synthesis-dependent strand annealing (SDSA) (PubMed:34937945). Possesses both DNA unwinding and annealing activities (PubMed:34937945). Forms a complex with RAD51, stimulating HELQ DNA helicase activity and ability to unwing DNA (PubMed:34937945). Efficiently unwinds substrates containing 3' overhangs or a D-loop (PubMed:21398521, PubMed:34937945). In contrast, interaction with the replication protein A (RPA/RP-A) complex inhibits DNA unwinding by HELQ but strongly stimulates DNA strand annealing (PubMed:34937945). Triggers displacement of RPA from single-stranded DNA to facilitate annealing of complementary sequences (PubMed:34316696, PubMed:34937945).

9606:C1QTNF1
gene id: 9606:C1QTNF1
uniprot id: Q9BXJ1
names: Subcellular Location Annotation
messages: Secreted

9606:CNKSR2
gene id: 9606:CNKSR2
uniprot id: A0A2R8Y622
uniprot id: A0A2R8Y700
uniprot id: A0A2R8Y7A1
uniprot id: A0A2U3TZH5
uniprot id: Q8WXI2
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CNKSR family.
messages: Cytoplasm
messages: Interacts with RAF1, RAB2L and RAL GTPase proteins.
messages: May function as an adapter protein or regulator of Ras signaling pathways.
messages: Membrane
messages: Phosphorylated on tyrosine.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:INTS15
gene id: 9606:INTS15
uniprot id: Q96N11
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Nucleus
messages: Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing.
messages: Probable component of the multiprotein Integrator (INT) complex.

9606:TEKT2
gene id: 9606:TEKT2
uniprot id: Q9UIF3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the tektin family.
messages: Expressed at high levels in testis, trachea and fetal lung, and at lower levels in ovary, pituitary, adult lung, fetal brain and fetal kidney.
messages: May interact with CCDC172.
messages: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules.
messages: Tyrosine phosphorylated.
messages: cilium axoneme
messages: flagellum axoneme
messages: microtubule organizing center

9606:TMEM67
gene id: 9606:TMEM67
uniprot id: Q5HYA8
names: Disease Annotation
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Homodimer (PubMed:34731008). Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with DNAJB9, DNAJC10 and mutated SFTPC. Interacts with SYNE2 during the early establishment of cell polarity. Interacts (via C-terminus) with FLNA. Interacts with TMEM218 (PubMed:35137054). Interacts with WNT5A (PubMed:34731008, PubMed:26035863). Interacts with ROR2 (PubMed:26035863).
messages: Probable cloning artifact.
messages: Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Is a key regulator of stereociliary bundle orientation (By similarity). Required for epithelial cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). Involved in the negative regulation of canonical Wnt signaling, and activation of the non-canonical cascade mediated by WNT5A and ROR2 (PubMed:26035863).
messages: TMEM67 mutations result in ciliary dysfunction leading to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry may act as a disease modifier. TMEM67 variations may influence the expression of Bardet-Biedl syndrome in patients who have causative mutations in other genes. Heterozygosity for a complex mutation in the TMEM67 gene coding for a protein with 2 in cis changes, and homozygosity for a truncating mutation of the CEP290 gene has been found in a patient with Bardet-Biedl syndrome 14.
messages: Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.
messages: cilium
messages: cilium basal body

9606:DBN1
gene id: 9606:DBN1
uniprot id: Q16643
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Actin cytoskeleton-organizing protein that plays a role in the formation of cell projections (PubMed:20215400). Required for actin polymerization at immunological synapses (IS) and for the recruitment of the chemokine receptor CXCR4 to IS (PubMed:20215400). Plays a role in dendritic spine morphogenesis and organization, including the localization of the dopamine receptor DRD1 to the dendritic spines (By similarity). Involved in memory-related synaptic plasticity in the hippocampus (By similarity).
messages: Cell junction
messages: Cytoplasm
messages: Expressed in the brain, with expression in the molecular layer of the dentate gyrus, stratum pyramidale, and stratum radiatum of the hippocampus (at protein level) (PubMed:8838578). Also expressed in the terminal varicosities distributed along dendritic trees of pyramidal cells in CA4 and CA3 of the hippocampus (at protein level) (PubMed:8838578). Expressed in pyramidal cells in CA2, CA1 and the subiculum of the hippocampus (at protein level) (PubMed:8838578). Expressed in peripheral blood lymphocytes, including T-cells (at protein level) (PubMed:20215400). Expressed in the brain (PubMed:8216329, Ref.2). Expressed in the heart, placenta, lung, skeletal muscle, kidney, pancreas, skin fibroblasts, gingival fibroblasts and bone-derived cells (Ref.2).
messages: Interacts with RUFY3 (By similarity). Interacts with CXCR4; this interaction is enhanced by antigenic stimulation (PubMed:20215400). Interacts (via ADF-H domain) with ZMYND8 (via PHD-type Zinc finger, Bromo and PWWP domains); the interaction leads to sequestering of ZMYND8 in the cytoplasm (PubMed:28966017).
messages: The protein represented in this entry may be involved in disease pathogenesis. In brains of patients with AD, decreased expression and absence from dystrophic neurites in amyloid plaques. Disappearance of debrin from the hippocampus may contribute to the pathogenesis of memory disturbance in AD.
messages: cell cortex
messages: dendrite
messages: growth cone

9606:RAB11FIP3
gene id: 9606:RAB11FIP3
uniprot id: O75154
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. Also required for the structural integrity of the endosomal recycling compartment during interphase. May play a role in breast cancer cell motility by regulating actin cytoskeleton. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25035494).
messages: Cleavage furrow
messages: Homodimer. Forms a complex with Rab11 (RAB11A or RAB11B) and ARF6. Interacts with RAB11A; the interaction is direct. Interacts with RAB11B, RAB25 and RAB11FIP4. Interacts with ARF6; according to PubMed:16148947, it specifically interacts with ARF6 but not ARF5. Interacts with ARF6; according to PubMed:17030804 but not PubMed:16148947. Interacts with RACGAP1/MgcRacGAP; interaction takes place during late stage of cytokinesis and is required for recruitment to the midbody. Interacts with ASAP1 and EXOC7. Interacts with dynein intermediate chain and dynactin (DCTN1) (PubMed:25035494).
messages: Midbody
messages: Phosphorylated at Ser-102 by CDK1 during metaphase, and dephosphorylated as cells enter telophase.
messages: Recycling endosome membrane
messages: The RBD-FIP domain mediates the interaction with Rab11 (RAB11A or RAB11B).
messages: centrosome

9606:CNIH1
gene id: 9606:CNIH1
uniprot id: B2R4P1
uniprot id: O95406
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cornichon family.
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Highly expressed in heart, liver, skeletal muscle, pancreas, adrenal medulla and cortex, thyroid, testis, spleen, appendix, peripheral blood lymphocytes and bone marrow. Lower expression found in brain, placenta, lung, kidney, ovary, small intestine, stomach, lymph node, thymus and fetal liver. Expression is up-regulated in dorsolateral prefrontal cortex of patients with schizophrenia (postmortem brain study).
messages: Interacts with AREG immature precursor and with immature TGFA, i.e. with a prosegment and lacking full N-glycosylation, but not with the fully N-glycosylated form. In the Golgi apparatus, may form a complex with GORASP55 and transmembrane TGFA.
messages: Involved in the selective transport and maturation of TGF-alpha family proteins.
messages: Membrane

9606:NEK2
gene id: 9606:NEK2
uniprot id: P51955
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by autophosphorylation. Protein phosphatase 1 represses autophosphorylation and activation of isoform 1 by dephosphorylation. Phosphorylation by STK3/MST2 is necessary for its localization to the centrosome.
messages: Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
messages: Cytoplasm
messages: Expression and activity peak in the G2 phase of the mitotic cycle and decrease once the cells have entered mitosis due to degradation by the anaphase promoting complex APC/C-CDC20. In G1 phase, both isoform 1 and isoform 2 are almost undetectable. However, at the G1/S transition, there is an increase in expression of both isoforms which then remain at this increased level throughout S and G2. At the onset of mitosis, isoform 1 undergoes a rapid disappearance whereas isoform 2 continues to be present at about the same level as in G2. During the rest of mitosis, isoform 1 remains absent, while isoform 2 only begins to decline upon re-entry into the next G1 phase.
messages: Isoform 1 and isoform 2 are expressed in peripheral blood T-cells and a wide variety of transformed cell types. Isoform 1 and isoform 4 are expressed in the testis. Up-regulated in various cancer cell lines, as well as primary breast tumors.
messages: Isoform 1 is inhibited by ionizing radiation in the presence of PPP1CA. Its catalytic activity is inhibited by the inhibitor CCT241950. In the presence of this inhibitor, displays an autoinhibited conformation: Tyr-70 side chain points into the active site, interacts with the activation loop, and blocks the alphaC helix.
messages: Isoform 1, isoform 2 and isoform 4 form homo- and heterodimers. Interacts with NECAB3 and HMGA2 (By similarity). Isoform 1 interacts with CDC20, CTNB1, MAD1L1, MAPK, NEK11, NPM1, NDC80, PCNT and SGO1 (PubMed:14978040, PubMed:15358203, PubMed:15388344, PubMed:15161910, PubMed:17621308, PubMed:18086858, PubMed:18297113, PubMed:20599736, PubMed:20034488). Isoform 1 interacts with STK3/MST2 (via SARAH domain) and SAV1 (via SARAH domain) (PubMed:21076410). Isoform 1 and isoform 2 interact with MAD2L1 (PubMed:20034488). Isoform 1 and isoform 4 interact with PPP1CA and PPP1CC (PubMed:15659832, PubMed:17283141). Interacts with CEP68; the interaction leads to phosphorylation of CEP68. Interacts with CNTLN; the interaction leads to phosphorylation of CNTLN (PubMed:24554434). Isoform 1 interacts with CEP85 (PubMed:26220856). Interacts with CCDC102B; the interaction leads to phosphorylation of CCDC102B (PubMed:30404835).
messages: Not present in the nucleolus and, in contrast to isoform 1, does not phosphorylate and activate NEK11 in G1/S-arrested cells.
messages: Nucleus
messages: Phosphorylates and activates NEK11 in G1/S-arrested cells.
messages: Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via phosphorylation of CDC20 and MAD2L1. Plays an active role in chromatin condensation during the first meiotic division through phosphorylation of HMGA2. Phosphorylates: PPP1CC; SGO1; NECAB3 and NPM1. Essential for localization of MAD2L1 to kinetochore and MAPK1 and NPM1 to the centrosome. Phosphorylates CEP68 and CNTLN directly or indirectly (PubMed:24554434). NEK2-mediated phosphorylation of CEP68 promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143). Involved in the regulation of centrosome disjunction (PubMed:26220856). Phosphorylates CCDC102B either directly or indirectly which causes CCDC102B to dissociate from the centrosome and allows for centrosome separation (PubMed:30404835).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The leucine-zipper domain is required for its dimerization and activation.
messages: centromere
messages: centrosome
messages: kinetochore
messages: nucleolus
messages: spindle pole

9606:ABHD17C
gene id: 9606:ABHD17C
uniprot id: Q6PCB6
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the AB hydrolase superfamily. ABHD17 family.
messages: Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS and DLG4/PSD95.
messages: Inhibited by palmostatin-B.
messages: Palmitoylated on cysteine residues located in a cysteine cluster at the N-terminus which promotes membrane localization. Palmitoylation is required for post-synaptic localization and for depalmitoylating activity towards DLG4/PSD95.
messages: Postsynaptic density membrane
messages: Recycling endosome membrane
messages: dendritic spine

9606:SULT4A1
gene id: 9606:SULT4A1
uniprot id: B7Z2E1
uniprot id: Q9BR01
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Atypical sulfotransferase family member with very low affinity for 3'-phospho-5'-adenylyl sulfate (PAPS) and very low catalytic activity towards L-triiodothyronine, thyroxine, estrone, p-nitrophenol, 2-naphthylamine, and 2-beta-naphthol. May have a role in the metabolism of drugs and neurotransmitters in the CNS.
messages: Belongs to the sulfotransferase 1 family.
messages: Cytoplasm
messages: Highly expressed in the cerebral cortex and frontal lobe, slightly less in the cerebellum, occipital and temporal lobes, relatively low in the medulla and putamen, and lowest in the spinal cord. No expression detected in the pancreas (PubMed:10698717). Highly expressed in fetal brain and occipital lobe, slightly less in the whole brain, frontal lobe, hippocampus, and lung, very low expression in cerebellum, medulla oblongata, temporal lobe, testis, kidney and appendix (PubMed:12039030).

9606:SF3B4
gene id: 9606:SF3B4
uniprot id: B3KUJ0
uniprot id: Q15427
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SF3B4 family.
messages: Component of splicing factor SF3B complex which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A and DDX42 (PubMed:12234937, PubMed:12738865, PubMed:27720643, PubMed:28541300). SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP) (PubMed:12234937). Interacts directly with SF3B2. Found in a complex with PRMT9, SF3B2 and SF3B4 (PubMed:25737013). The SF3B complex composed of SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6 and PHF5A interacts with U2AF2 (PubMed:27720643). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077).
messages: Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex. SF3B4 has been found in complex 'B' and 'C' as well (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SPATA31D3
gene id: 9606:SPATA31D3
uniprot id: P0C874
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SPATA31 family.
messages: May play a role in spermatogenesis.
messages: Membrane

9606:PRPF4B
gene id: 9606:PRPF4B
uniprot id: A0A024QZY5
uniprot id: Q13523
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family.
messages: Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF.
messages: Identified in the spliceosome C complex. Interacts with Clk1 C-terminus.
messages: Nucleus
messages: Phosphorylated by Clk1.
messages: Ubiquitous.

9606:DDT
gene id: 9606:DDT
uniprot id: P30046
uniprot id: Q53Y51
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the MIF family.
messages: Cytoplasm
messages: Highly expressed in the liver and at lower levels in the heart, lung and pancreas.
messages: Homotrimer.
messages: Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI).

9606:SMIM15
gene id: 9606:SMIM15
uniprot id: Q7Z3B0
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SMIM15 family.
messages: Membrane

9606:H2AC11
gene id: 9606:H2AC11
uniprot id: A4FTV9
uniprot id: B2R5B3
uniprot id: P0C0S8
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the histone H2A family.
messages: Chromosome
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Deiminated on Arg-4 in granulocytes upon calcium entry.
messages: Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.
messages: Nucleus
messages: Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.
messages: Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.

9606:ZNF471
gene id: 9606:ZNF471
uniprot id: Q9BX82
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:OR4M2
gene id: 9606:OR4M2
uniprot id: Q8NGB6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:RABL3
gene id: 9606:RABL3
uniprot id: Q5HYI8
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. RABL3 variants have been found in families with a history of pancreatic ductal adenocarcinoma and multiple other occurrences of cancer, including melanoma, breast cancer, prostate cancer, and colon cancer.
messages: Homodimer (By similarity). Interacts with GPR89; the interaction stabilizes GPR89 (By similarity). Interacts with RAP1GDS1 (PubMed:31406347).
messages: Required for KRAS signaling regulation and modulation of cell proliferation (PubMed:31406347). Regulator of KRAS prenylation, and probably prenylation of other small GTPases (PubMed:31406347). Required for lymphocyte development and function (By similarity). Not required for myeloid cell development (By similarity).

9606:PRKD3
gene id: 9606:PRKD3
uniprot id: O94806
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activated by DAG and phorbol esters. Phorbol-ester/DAG-type domains 1 and 2 bind both DAG and phorbol ester with high affinity and mediate translocation to the cell membrane. Autophosphorylation of Ser-735 and phosphorylation of Ser-731 by PKC relieves auto-inhibition by the PH domain.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily.
messages: Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity).
messages: Cytoplasm
messages: Membrane
messages: Ubiquitous.

9606:TLL2
gene id: 9606:TLL2
uniprot id: Q9Y6L7
names: Cofactor
names: Function
names: Subcellular Location Annotation
messages: Binds 1 zinc ion per subunit.
messages: Protease which specifically processes pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.
messages: Secreted

9606:SALL3
gene id: 9606:SALL3
uniprot id: Q9BXA9
names: Developmental Stage
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sal C2H2-type zinc-finger protein family.
messages: In fetal brain of the 24th gestational week.
messages: Lacks two zinc finger domains. Major isoform with isoform 1.
messages: Lacks two zinc finger domains. Major isoform with isoform 2.
messages: Nucleus
messages: Probable transcription factor.
messages: Widely expressed in adult with highest levels in heart. Expressed in fetal brain (in neurons of hippocampus, cortex, mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and brainstem).

9606:SNRNP35
gene id: 9606:SNRNP35
uniprot id: Q16560
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the U11/U12 snRNPs that are part of the U12-type spliceosome.
messages: Expressed in heart, liver, skeletal muscle and pancreas.
messages: Nucleus

9606:TTLL12
gene id: 9606:TTLL12
uniprot id: Q14166
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Although it belongs to the tubulin--tyrosine ligase family, the TTL domain lacks some of the ATP binding sites predicted to be essential for TTL activity (PubMed:23251473). Lacks tyrosine ligase activity in vitro (PubMed:23251473). Lacks glutamylation activity in vitro (By similarity). Although TTLL12 contains a potential SET-like domain in the N-terminus, it does not have lysine methyltransferase activity towards histone in vitro (PubMed:23251473).
messages: Belongs to the tubulin--tyrosine ligase family.
messages: Cytoplasm
messages: Expressed in the basal layer of prostate and endothelial cells. Increased expression in prostatic intraepithelial neoplasia and metastatic lesions.
messages: Interacts with MAVS; the interaction prevents MAVS binding to TBK1 and IKBKE (PubMed:28011935). Interacts (via N-terminus) with TBK1 (via protein kinase domain) (PubMed:28011935). Interacts (via TTL domain) with IKBKE (via protein kinase domain) (PubMed:28011935). Interacts with tubulin alpha (PubMed:23251473). Interacts with histone H3 and histone H4 (when trimethylated at 'Lys-20' (H4K20me3)) (PubMed:23251473). Interacts with CBX3 (PubMed:23251473).
messages: Midbody
messages: Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues (PubMed:20162578, PubMed:23251473). Also, indirectly promotes histone H4 trimethylation at 'Lys-20' (H4K20me3) (PubMed:23251473). Probably by controlling tubulin and/or histone H4 post-translational modifications, plays a role in mitosis and in maintaining chromosome number stability (PubMed:20162578, PubMed:23251473). During RNA virus-mediated infection, acts as a negative regulator of the RIG-I pathway by preventing MAVS binding to TBK1 and IKBKE (PubMed:28011935).
messages: Nucleus
messages: centrosome
messages: spindle

9606:GNB4
gene id: 9606:GNB4
uniprot id: Q9HAV0
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the WD repeat G protein beta family.
messages: G proteins are composed of 3 units, alpha, beta and gamma.
messages: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
messages: Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Abundantly expressed in the axons and Schwann cells of peripheral nerves.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NSG2
gene id: 9606:NSG2
uniprot id: Q9Y328
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the NSG family.
messages: Cytoplasmic vesicle membrane
messages: Early endosome membrane
messages: Endosome membrane
messages: Golgi stack membrane
messages: Late endosome membrane
messages: Lysosome lumen
messages: Membrane
messages: dendrite
messages: multivesicular body membrane
messages: trans-Golgi network membrane

9606:INTS12
gene id: 9606:INTS12
uniprot id: A0A024RDK4
uniprot id: Q96CB8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Integrator subunit 12 family.
messages: Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L and INTS12.
messages: Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (PubMed:16239144). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).
messages: Nucleus

9606:CCNJ
gene id: 9606:CCNJ
uniprot id: Q5T5M9
names: Similarity
messages: Belongs to the cyclin family.

9606:NCOA6
gene id: 9606:NCOA6
uniprot id: Q14686
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. Only motif 1 is essential for the association with nuclear receptors, while adjacent Ser-884 displays selectivity for nuclear receptors.
messages: Frequently amplified or overexpressed in colon, breast and lung cancers.
messages: Monomer and homodimer. Interacts with RBM39 (By similarity). Interacts in vitro with the basal transcription factors GTF2A and TBP, suggesting an autonomous transactivation function. Interacts with NCOA1, CRSP3, RBM14, the histone acetyltransferases EP300 and CREBBP, and with the methyltransferases NCOA6IP and PRMT2/HRMT1L1. Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with ZNF335; may enhance ligand-dependent transcriptional activation by nuclear hormone receptors.
messages: Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins.
messages: Nucleus
messages: Phosphorylated by PRKDC.
messages: Phosphorylation on Ser-884 leads to a strong decrease in binding to ESR1 and ESR2.
messages: Ubiquitous. Highly expressed in brain, prostate, testis and ovary; weakly expressed in lung, thymus and small intestine.

9606:MYH3
gene id: 9606:MYH3
uniprot id: P11055
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundantly present in fetal skeletal muscle and not present or barely detectable in heart and adult skeletal muscle.
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
messages: Expressed in fetal bone, thymus, placenta, heart, brain, and liver.
messages: Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
messages: Muscle contraction.
messages: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).
messages: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-3 (MYO3).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
messages: Variants Ala-1622 and Val-1637 have been originally reported as DA2B3 pathogenic mutations (PubMed:16642020). These variants are now thought to be polymorphisms on the basis of additional family information and frequencies in large databases of control populations (PubMed:25957469).
messages: myofibril

9606:RNF128
gene id: 9606:RNF128
uniprot id: Q8TEB7
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
messages: Auto-ubiquitinated. Controls the development of T-cell clonal anergy by ubiquitination.
messages: Binding to E2 ubiquitin-conjugating enzyme requires an intact RING finger domain.
messages: E3 ubiquitin-protein ligase that catalyzes 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains formation. Functions as an inhibitor of cytokine gene transcription. Inhibits IL2 and IL4 transcription, thereby playing an important role in the induction of the anergic phenotype, a long-term stable state of T-lymphocyte unresponsiveness to antigenic stimulation associated with the blockade of interleukin production. Ubiquitinates ARPC5 with 'Lys-48' linkages and COR1A with 'Lys-63' linkages leading to their degradation, down-regulation of these cytosleletal components results in impaired lamellipodium formation and reduced accumulation of F-actin at the immunological synapse. Functions in the patterning of the dorsal ectoderm; sensitizes ectoderm to respond to neural-inducing signals.
messages: Endomembrane system
messages: Induced under anergic conditions. Up-regulated during T-cell anergy induction following signaling through the T-cell antigen receptor.
messages: cytoskeleton
messages: perinuclear region

9606:ZNF362
gene id: 9606:ZNF362
uniprot id: Q5T0B9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:CAPS2
gene id: 9606:CAPS2
uniprot id: Q9BXY5
names: Tissue Specificity
messages: Abundantly expressed in many tissues. Expressed in brain, colon, heart, kidney, liver, lung, liver, pancreas, placenta, skeletal muscle, testis and thymus. Highest expression in colon, testis, lung, placenta and brain.

9606:HACD1
gene id: 9606:HACD1
uniprot id: B0YJ81
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the very long-chain fatty acids dehydratase HACD family.
messages: Catalytically inactive since it lacks the active site but may have an alternative function.
messages: Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.
messages: Endoplasmic reticulum membrane
messages: In tooth development, may play a role in the recruitment and the differentiation of cells that contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.
messages: Isoform 1 is expressed in fetal heart.
messages: Isoform 1 is highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular tissues including those from stomach, jejunum, and bladder. Also detected in gingival fibroblasts, periodontal ligament cells, osteoblasts and cementoblasts (PubMed:11054553, PubMed:22067203). Isoform 2 is specifically expressed by cementoblasts but also detected in periodontal ligament cells, heart, liver and kidney (at protein level) (PubMed:22067203).
messages: Isoform 1 shares some similarity with tyrosine phosphatase proteins but it has probably no phosphatase activity.
messages: Isoform 1: May interact with enzymes of the ELO family (including ELOVL1); with those enzymes that mediate condensation, the first of the four steps of the reaction cycle responsible for fatty acids elongation, may be part of a larger fatty acids elongase complex (PubMed:18554506). Isoform 2: Homooligomer. Self-assembles into spheres which then aggregates to form strings and a meshwork that may support hydroxyapatite crystal nucleation (PubMed:25263524).
messages: N-glycosylated.
messages: The gene represented in this entry may be involved in disease pathogenesis. A loss-of-function mutation that segregates with the disease was found in four members of a consanguineous family and not identified in unaffected controls. The mutation affects the expression of the mRNA and the produced protein is catalytically inactive.

9606:ZNF623
gene id: 9606:ZNF623
uniprot id: O75123
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:B4GALT3
gene id: 9606:B4GALT3
uniprot id: A0A384NY44
uniprot id: A8K5Z0
uniprot id: O60512
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 7 family.
messages: Found in various tissues. Highest expression in placenta, prostate, testis, ovary, intestine and muscle, and in fetal brain.
messages: Golgi apparatus membrane
messages: Golgi stack membrane
messages: Membrane
messages: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.

9606:FBXL2
gene id: 9606:FBXL2
uniprot id: Q9UKC9
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with hepatitis C virus non-structural protein 5A (NS5A) and less efficiently, with hepatitis C virus non-structural protein 5B (NS5B); a reaction crucial for hepatitis C virus RNA replication.
messages: Calcium-activated substrate recognition component of the SCF (SKP1-cullin-F-box protein) E3 ubiquitin-protein ligase complex, SCF(FBXL2), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Unlike many F-box proteins, FBXL2 does not seem to target phosphodegron within its substrates but rather calmodulin-binding motifs and is thereby antagonized by calmodulin. This is the case for the cyclins CCND2 and CCND3 which polyubiquitination and subsequent degradation are inhibited by calmodulin. Through CCND2 and CCND3 degradation induces cell-cycle arrest in G(0) (PubMed:22020328, PubMed:22323446). SCF(FBXL2) also mediates PIK3R2 ubiquitination and proteasomal degradation thereby regulating phosphatidylinositol 3-kinase signaling and autophagy (PubMed:23604317). PCYT1A monoubiquitination by SCF(FBXL2) and subsequent degradation regulates synthesis of phosphatidylcholine, which is utilized for formation of membranes and of pulmonary surfactant (By similarity).
messages: Deletion of the F-box domain creates a dominant-negative protein that inhibits replication of hepatitis C virus RNA when overexpressed in a hepatoma cell line; this inhibition could be overcome by NS5A coexpression.
messages: Expressed in brain, heart, kidney, liver, lung, pancreas and placenta.
messages: Membrane
messages: Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXL2) composed of CUL1, SKP1, RBX1 and FBXL2 (PubMed:10531037). Interacts with PCYT1A. Interacts with calmodulin; may antagonize substrate ubiquitination by SCF(FBXL2) (By similarity). Interacts with CCND2 and CCND3 (PubMed:22323446, PubMed:22020328). Interacts with PIK3R2; PIK3R2 is a substrate ubiquitinated by the SCF(FBXL2) complex (PubMed:23604317). May interact with PIK3R1 (PubMed:23604317). Interacts with PTPN13.
messages: The CAAX motif is a signal for the geranylgeranylation of FBXL2 and is required for its association with cell membranes and the recruitment of substrates to the active SCF(FBXL2) complex.

9606:CACNB3
gene id: 9606:CACNB3
uniprot id: P54284
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the calcium channel beta subunit family.
messages: Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1C) and the ancillary subunits CACNB3 and CACNA2D1 (PubMed:29742403). The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio (Probable). Interacts with CACNA2D4 (PubMed:12181424). Interacts with FASLG (PubMed:19807924). Interacts with CBARP; prevents the interaction of CACNB3 with the alpha subunit CACNA1C thereby negatively regulating the activity of the corresponding calcium channel (By similarity).
messages: Cytoplasm
messages: Expressed mostly in brain, colon and ovary.
messages: Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity).

9606:USP17L20
gene id: 9606:USP17L20
uniprot id: D6RJB6
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the peptidase C19 family. USP17 subfamily.
messages: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
messages: Endoplasmic reticulum
messages: Nucleus
messages: The RS447 megasatellite DNA is a highly polymorphic conserved tandem repetitive sequence which contains a copy of the USP17 gene. It is present with an interindividual variation in copy number, ranging from 20 to 103, and can be found in the genome on chromosome 4 and chromosome 8. The high similarity between the UPS17-like genes makes it impossible to specifically assign data to a particular gene of the family. Oligonucleotides designed in RNAi experiments are for instance not specific for a given UPS17-like gene.

9606:PGS1
gene id: 9606:PGS1
uniprot id: A0A024R8V5
uniprot id: B4DLU3
uniprot id: Q32NB8
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Activated by calcium and magnesium and inhibited by other bivalent cations.
messages: Belongs to the CDP-alcohol phosphatidyltransferase class-II family.
messages: Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin.
messages: Mitochondrion

9606:OR4A47
gene id: 9606:OR4A47
uniprot id: Q6IF82
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:MDH1B
gene id: 9606:MDH1B
uniprot id: C9JER5
uniprot id: Q5I0G3
names: Similarity
messages: Belongs to the LDH/MDH superfamily. MDH type 2 family.

9606:NGRN
gene id: 9606:NGRN
uniprot id: Q9NPE2
names: Function
names: Induction
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the neugrin family.
messages: Expressed at high levels in heart, brain and skeletal muscle. In brain, mainly expressed in neurons rather than glial cells.
messages: Forms a regulatory protein-RNA complex, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA. Interacts with 16S mt-rRNA; this interaction is direct.
messages: Highly up-regulated in neuroblastostoma cells by retinoic acid treatment inducing neurite outgrowth.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Mitochondrion membrane
messages: N-terminus does not match isoform 2.
messages: Nucleus
messages: Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system.
messages: Secreted

9606:CERS2
gene id: 9606:CERS2
uniprot id: Q96G23
names: Activity Regulation
names: Caution
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation.
messages: Ceramide synthase activity is inhibited by sphingosine-1-phosphate.
messages: Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very-long-chain fatty acyl-CoA (chain length C22-C27) (PubMed:17977534, PubMed:18165233, PubMed:18541923, PubMed:19728861, PubMed:20937905, PubMed:22144673, PubMed:22661289, PubMed:26887952, PubMed:29632068). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (By similarity) (PubMed:17977534, PubMed:18165233, PubMed:18541923, PubMed:19728861, PubMed:20937905, PubMed:22144673, PubMed:22661289, PubMed:26887952, PubMed:29632068). Plays a non-redundant role in the synthesis of ceramides with very-long-chain fatty acids in kidney, liver and brain. Regulates the abundance of myelin-specific sphingolipids galactosylceramide and sulfatide that affects myelin sheath architecture and motor neuron functions (By similarity).
messages: Contains a predicted homeobox domain which is degenerated and lacks residues that are important for DNA-binding. The protein localizes in the endoplasmic reticulum and not in the nucleus, which also argues against homeobox function (PubMed:18165233).
messages: Endoplasmic reticulum membrane
messages: Expressed in kidney, liver, brain, heart, placenta and lung.
messages: Interacts with ATP6V0C, ASGR1, ASGR2 and SLC22A1/OCT1 (PubMed:11543633). Interacts with ELOV1, HSD17B12 and TECR (PubMed:20937905). Interacts with NDUFS2 (By similarity).
messages: Phosphorylated at the C-terminus by CK2, leading to increase the ceramide synthase activity.
messages: Some prediction bioinformatics tools predict the presence of a homeobox domain (By similarity). However, the domain is degenerate and residues that are important for DNA-binding are absent (By similarity). Moreover, the protein localizes in the endoplasmic reticulum and not in the nucleus, strongly suggesting that it does not constitute a canonical homeobox domain (PubMed:18165233).
messages: The last loop motif confers selectivity toward behenoyl-CoA (docosanoyl-CoA; C22:0-CoA) and lignoceroyl-CoA (tetracosanoyl-CoA; C24:0-CoA) as acyl donors.

9606:C1orf54
gene id: 9606:C1orf54
uniprot id: Q8WWF1
names: Subcellular Location Annotation
messages: Secreted

9606:DDX18
gene id: 9606:DDX18
uniprot id: Q8N254
uniprot id: Q9NVP1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DEAD box helicase family.
messages: Belongs to the DEAD box helicase family. DDX18/HAS1 subfamily.
messages: Chromosome
messages: Interacts with NOL8; the interaction is RNA-dependent.
messages: Probable RNA-dependent helicase.
messages: nucleolus

9606:SPANXN1
gene id: 9606:SPANXN1
uniprot id: Q5VSR9
names: Similarity
messages: Belongs to the SPAN-X family.

9606:PXK
gene id: 9606:PXK
uniprot id: Q7Z7A4
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily.
messages: Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity.
messages: Cell membrane
messages: Cytoplasm
messages: The protein kinase domain is predicted to be catalytically inactive.
messages: Widely expressed in all tissues examined except in heart. Isoform 1 is expressed in high levels in the brain, skeletal muscle, spleen and testis. Isoform 7 expression has yet to be demonstrated.

9606:POMK
gene id: 9606:POMK
uniprot id: Q9H5K3
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Although related to the Ser/Thr protein kinase family, has no protein kinase activity and acts as a mannose kinase instead.
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.
messages: Endoplasmic reticulum membrane
messages: Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues.
messages: Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:FSD1
gene id: 9606:FSD1
uniprot id: Q9BTV5
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: B30.2 box contains a microtubule-binding site.
messages: Cleavage furrow
messages: Cytoplasm
messages: Highly expressed in brain tissues, including cerebellum, cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe and putamen. Lower expression in spinal chord.
messages: May be involved in microtubule organization and stabilization.
messages: Nucleus
messages: Oligomerization is required for binding to microtubules.
messages: centrosome

9606:UBR7
gene id: 9606:UBR7
uniprot id: Q8N806
names: Disease Annotation
names: Function
names: Tissue Specificity
messages: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation.
messages: Expressed in sperm (at protein level).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:APOH
gene id: 9606:APOH
uniprot id: A0A384NKM6
uniprot id: P02749
names: Caution
names: Function
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells.
messages: Expressed by the liver and secreted in plasma.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: N- and O-glycosylated. PubMed:6587378 also reports glycosylation on 'Asn-188' for their allele.
messages: Secreted

9606:ZNF774
gene id: 9606:ZNF774
uniprot id: Q6NX45
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:TACR2
gene id: 9606:TACR2
uniprot id: P21452
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: This is a receptor for the tachykinin neuropeptide substance K (neurokinin A). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance K > neuromedin-K > substance P.

9606:DELE1
gene id: 9606:DELE1
uniprot id: Q14154
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DELE1 family.
messages: Cleaved by OMA1 in response to mitochondrial stress, generating the DAP3-binding cell death enhancer 1 short form (DELE1(S) or S-DELE1) that accumulates in the cytosol and activates the protein kinase activity of EIF2AK1/HRI (PubMed:32132706, PubMed:32132707). Protein cleavage by OMA1 can take place at different positions, and apparently does not require a specific sequence motif (PubMed:32132707).
messages: Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small intestine and colon.
messages: Interacts (via TPR repeats) with EIF2AK1/HRI; activating the protein kinase activity of EIF2AK1/HRI, thereby promoting the integrated stress response (ISR).
messages: Interacts with DAP3.
messages: Key activator of the integrated stress response (ISR) following mitochondrial stress (PubMed:32132706, PubMed:32132707). In response to mitochondrial stress, cleaved by the protease OMA1, generating the DAP3-binding cell death enhancer 1 short form (DELE1(S) or S-DELE1), which translocates to the cytosol and activates EIF2AK1/HRI to trigger the ISR (PubMed:32132706, PubMed:32132707). Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation (PubMed:20563667).
messages: Mitochondrion
messages: Mitochondrion inner membrane
messages: Protein kinase activator generated by protein cleavage in response to mitochondrial stress, which accumulates in the cytosol and specifically binds to and activates the protein kinase activity of EIF2AK1/HRI (PubMed:32132706, PubMed:32132707). It thereby activates the integrated stress response (ISR): EIF2AK1/HRI activation promotes eIF-2-alpha (EIF2S1) phosphorylation, leading to a decrease in global protein synthesis and the induction of selected genes, including the transcription factor ATF4, the master transcriptional regulator of the ISR (PubMed:32132706, PubMed:32132707).
messages: The TPR repeats bind to and activate EIF2AK1/HRI.
messages: cytosol

9606:GATAD2B
gene id: 9606:GATAD2B
uniprot id: Q8WXI9
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Both CR1 and CR2 regions are required for speckled nuclear localization.
messages: Interacts with MBD2 and MBD3 (PubMed:11756549, PubMed:12183469, PubMed:16415179). Interaction with MBD2 is required for the enhancement of MBD2-mediated repression and for targeting to the chromatin (PubMed:11756549, PubMed:12183469, PubMed:16415179). Component of the MeCP1 histone deacetylase complex (PubMed:11756549). Interacts with histone tails, including that of histones H2A, H2B, H3 and H4 (PubMed:16415179). Interacts with ERCC6 (PubMed:26030138).
messages: Nucleus speckle
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development.
messages: Widely expressed.

9606:CHP2
gene id: 9606:CHP2
uniprot id: O43745
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the calcineurin regulatory subunit family. CHP subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in malignantly transformed cells but not detected in normal tissues.
messages: Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Binds to and activates SLC9A1/NHE1 in a serum-independent manner, thus increasing pH and protecting cells from serum deprivation-induced death. Also plays a role in the regulation of cell proliferation and tumor growth by increasing the phosphatase activity of PPP3CA in a calcium-dependent manner. Activator of the calcineurin/NFAT signaling pathway. Involved in the cytoplasmic translocation of the transcription factor NFATC3 to the nucleus.
messages: Interacts with PPP3CA. Interacts with SLC9A1/NHE1; the interaction occurs in a calcium-dependent manner.
messages: Nucleus

9606:SYN1
gene id: 9606:SYN1
uniprot id: P17600
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the synapsin family.
messages: Golgi apparatus
messages: Homodimer (By similarity). Can form oligomers with SYN2 (PubMed:23406870). Interacts with CAPON. Forms a ternary complex with NOS1 (By similarity). Isoform Ib interacts with PRNP (By similarity).
messages: Neuronal phosphoprotein that coats synaptic vesicles, and binds to the cytoskeleton. Acts as a regulator of synaptic vesicles trafficking, involved in the control of neurotransmitter release at the pre-synaptic terminal (PubMed:21441247, PubMed:23406870). Also involved in the regulation of axon outgrowth and synaptogenesis (By similarity). The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level (By similarity).
messages: Presynapse
messages: Substrate of different protein kinases. Phosphorylated by CaMK2 and MAPK1 (PubMed:21441247). Phosphorylation, including phosphorylation at Ser-9, promotes synapsin-1 dissociation from synaptic vesicles, regulates its rate of dispersion, and controls the kinetics of vesicle pool turnover and neurotransmitter release (By similarity) (PubMed:21441247).
messages: Synapse
messages: The A region binds phospholipids with a preference for negatively charged species.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: synaptic vesicle

9606:MED14
gene id: 9606:MED14
uniprot id: O60244
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Mediator complex subunit 14 family.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
messages: Interacts with GATA1 (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with AR, ESR1, SREBF1 and STAT2.
messages: Nucleus
messages: Ubiquitous.

9606:UBE2D1
gene id: 9606:UBE2D1
uniprot id: A0A024QZJ2
uniprot id: A0A087WW00
uniprot id: P51668
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:22496338). In vitro catalyzes 'Lys-48'-linked polyubiquitination (PubMed:20061386). Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1 (PubMed:18042044, PubMed:18359941). Ubiquitinates STUB1-associated HSP90AB1 in vitro (PubMed:18042044). Lacks inherent specificity for any particular lysine residue of ubiquitin (PubMed:18042044). Essential for viral activation of IRF3 (PubMed:19854139). Mediates polyubiquitination of CYP3A4 (PubMed:19103148).
messages: Autoubiquitinated in vitro.
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: Component of a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with RNF11.
messages: Cytoplasm
messages: PubMed:9362508 cloned and sequenced SFT which consisted of UBE2D1 last coding exon along with intronic sequences on the 5'-end of this exon. A function in iron transport has been described.
messages: Ubiquitous. Up-regulated in livers of iron-overloaded patients with hereditary hemochromatosis.

9606:ANGPT4
gene id: 9606:ANGPT4
uniprot id: Q9Y264
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds to TEK/TIE2, modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2. Promotes endothelial cell survival, migration and angiogenesis.
messages: Highly expressed in the lung with much lower levels found in other tissues.
messages: Homodimer; disulfide-linked. Interacts with TEK/TIE2.
messages: Secreted

9606:ZNF75D
gene id: 9606:ZNF75D
uniprot id: P51815
uniprot id: Q86TD5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:CAPNS1
gene id: 9606:CAPNS1
uniprot id: A0A0C4DGQ5
uniprot id: P04632
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cell membrane
messages: Cytoplasm
messages: EF-hand domains are paired. EF-hand 1 is paired with EF-hand 2 and EF-hand 3 is paired with EF-hand 4. The fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by EF-embrace. The first four EF-hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to calcium is physiologically relevant.
messages: Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium, the heterodimer dissociates (By similarity).
messages: Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium, the heterodimer dissociates.
messages: Membrane
messages: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development (By similarity).
messages: The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the heterodimer.

9606:XAF1
gene id: 9606:XAF1
uniprot id: Q6GPH4
names: Developmental Stage
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Interacts with BIRC4; the interaction is not detected in (PubMed:16432762). Interacts with BIRC1, BIRC2, BIRC3, BIRC7 and BIRC8. Part of an complex consisting of BIRC4, XAF1 and BIRC5; the complex formation requires IFN-beta stimulation. Interacts with RNF114, the interaction increases XAF1 stability and proapoptotic effects, and may regulate IFN signaling.
messages: Mitochondrion
messages: Nucleus
messages: Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-alpha-induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondria, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems to occur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; the process requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity to the proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance of cancer cells.
messages: Selectively expressed in third trimester placenta.
messages: Up-regulated by IFNB1/IFN-beta in cell lines sensitive to the proapoptotic effects of IFNB1 but not in apoptosis-resistant cells. Up-regulated by TNF in trophoblast cells.
messages: Widely expressed. Expression is frequently down-regulated in cancer cell lines. Isoform 5 is widely expressed. Expressed in placenta (at protein level).

9606:CYP4X1
gene id: 9606:CYP4X1
uniprot id: Q8N118
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A cytochrome P450 monooxygenase that selectively catalyzes the epoxidation of the last double bond of the arachidonoyl moiety of anandamide, potentially modulating endocannabinoid signaling. Has no hydroxylase activity toward various fatty acids, steroids and prostaglandins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).
messages: Belongs to the cytochrome P450 family.
messages: Endoplasmic reticulum membrane
messages: Expressed in brain, heart, kidney and skin and, at lower levels, in skeletal muscle and liver (PubMed:16478468, PubMed:18549450). In the brain, high levels are detected in amygdala and lower levels in globus pallidus and cerebellum (PubMed:18549450). In the heart, very high levels in aorta, but very low levels in other heart regions (PubMed:16478468, PubMed:18549450). Also expressed in breast, prostate and colon (PubMed:18549450).
messages: Expressed in fetal liver and aorta.
messages: Microsome membrane

9606:DENND4A
gene id: 9606:DENND4A
uniprot id: Q7Z401
names: Developmental Stage
names: Function
names: Induction
names: Subcellular Location Annotation
names: Tissue Specificity
messages: By serum in low-passage fibroblasts.
messages: Expressed ubiquitously. Highest expression in bone marrow, medium in peripheral blood lymphocytes and lowest in spleen. In brain, breast, and prostate, higher expression was seen in normal cells than in tumor cells. Expression is regulated in a growth- and cell cycle-dependent manner.
messages: Highly expressed in fetal liver.
messages: Nucleus
messages: Probable guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. According to PubMed:8056341, it may bind to ISRE-like element (interferon-stimulated response element) of MYC P2 promoter.

9606:KMO
gene id: 9606:KMO
uniprot id: A8K693
uniprot id: O15229
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the aromatic-ring hydroxylase family. KMO subfamily.
messages: Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn) (PubMed:29429898, PubMed:23575632, PubMed:26752518, PubMed:28604669, PubMed:29208702). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (Probable).
messages: Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract.
messages: Gene model based on mouse cDNA data.
messages: Highest levels in placenta and liver. Detectable in kidney.
messages: Increased in neuroinflammatory conditions. Inhibitors are investigated as potential neuroprotective drugs since they lead to an increased level of kynurenic acid, a neuroprotective NMDA receptor agonist.
messages: Mitochondrion outer membrane
messages: Transmembrane domains are required for enzymatic activity.

9606:MXI1
gene id: 9606:MXI1
uniprot id: P50539
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.
messages: Interacts with SMC3 (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with RNF17 (By similarity).
messages: Nucleus
messages: Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.

9606:GALNT12
gene id: 9606:GALNT12
uniprot id: Q8IXK2
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
messages: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion: studies on 103 probants with colorectal cancer 1 (CRCS1) suggest that it does not act as a major contributor of CRCS1 (PubMed:24115450).
messages: Golgi apparatus membrane
messages: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
messages: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
messages: Widely expressed at different levels of expression. Highly expressed in digestive organs such as small intestine, stomach, pancreas and colon. Expressed at intermediate level in testis, thyroid gland and spleen. Weakly expressed in whole brain, cerebral cortex, cerebellum, fetal brain, bone marrow, thymus, leukocytes, heart, skeletal muscle, liver, lung, esophagus, kidney, adrenal gland, mammary gland, uterus, placenta, ovary and prostate.

9606:MZT1
gene id: 9606:MZT1
uniprot id: Q08AG7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MOZART1 family.
messages: Part of the gamma-tubulin complex. Interacts with TUBG1.
messages: Required for gamma-tubulin complex recruitment to the centrosome.
messages: centrosome
messages: spindle

9606:ZMYM6
gene id: 9606:ZMYM6
uniprot id: O95789
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Contaminating sequence. Potential poly-A sequence.
messages: Expressed at high levels in heart, skeletal muscle, kidney and liver.
messages: Nucleus
messages: Plays a role in the regulation of cell morphology and cytoskeletal organization.

9606:CCDC28A
gene id: 9606:CCDC28A
uniprot id: Q8IWP9
names: Caution
names: Disease Annotation
messages: A chromosomal aberration involving CCDC28A has been identified in acute leukemias. Translocation t(6;11)(q24.1;p15.5) with NUP98. The chimeric transcript is an in-frame fusion of NUP98 exon 13 to CCDC28A exon 2. Ectopic expression of NUP98-CCDC28A in mouse promotes the proliferative capacity and self-renewal potential of hematopoietic progenitors and rapidly induced fatal myeloproliferative neoplasms and defects in the differentiation of the erythro-megakaryocytic lineage.
messages: It is uncertain whether Met-1 or Met-91 is the initiator. The first 90 residues are not conserved and orthologous sequences, including rat and mouse ones, contain a stop codon upstream of the conserved methionine.

9606:MRPL24
gene id: 9606:MRPL24
uniprot id: Q96A35
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the universal ribosomal protein uL24 family.
messages: Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
messages: Mitochondrion

9606:NBEAL1
gene id: 9606:NBEAL1
uniprot id: Q6ZS30
names: Similarity
names: Tissue Specificity
messages: Belongs to the WD repeat neurobeachin family.
messages: Highly expressed in brain, kidney, prostate and testis. Weakly expressed in ovary, small intestine, colon and peripheral blood leukocytes. May be correlative to several tumors, such as ovary serous adenocarcinoma and metastasis mammary gland carcinoma breast.

9606:ZFP36L2
gene id: 9606:ZFP36L2
uniprot id: P47974
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with the cytoplasmic CCR4-NOT deadenylase to trigger ARE-containing mRNA deadenylation and decay processes (PubMed:25106868). Interacts with CNOT7; this interaction is inhibited in response to phorbol 12-myristate 13-acetate (PMA) treatment in a p38 MAPK-dependent manner (PubMed:25106868).
messages: Cytoplasm
messages: Defects in ZFP36L2 may be a cause of leukemias. Frameshift mutations disrupting ZFP36L2 have been found in a patient with acute myeloid leukemia (PubMed:21109922).
messages: Expressed mainly in the basal epidermal layer, weakly in the suprabasal epidermal layers (PubMed:27182009). Expressed in epidermal keratinocytes (at protein level) (PubMed:27182009).
messages: Nucleus
messages: Phosphorylated by RPS6KA1 at Ser-490 and Ser-492 upon phorbol 12-myristate 13-acetate (PMA) treatment; this phosphorylation results in dissociation of the CCR4-NOT-deadenylase complex and induces p38 MAPK-mediated stabilization of the low-density lipoprotein (LDL) receptor (LDLR) mRNA (PubMed:25106868). Phosphorylation occurs during early preadipocyte differentiation (By similarity).
messages: Up-regulated by butyrate in colorectal cancer cells (PubMed:10367403). Up-regulated in keratinocytes after wounding (PubMed:20166898, PubMed:27182009). Up-regulated strongly by granulocyte macrophage colony-stimulating factor (GM-CSF) in keratinocytes (PubMed:20166898). Up-regulated moderately by transforming growth factor (TGF-beta), epidermal growth factor (EGF), tumor necrosis factor (TNF-alpha) and fibroblast growth factor (FGF1) in keratinocytes (PubMed:20166898). Up-regulated also by glucocorticoid dexamethasone in keratinocytes (PubMed:20166898).
messages: Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:25106868, PubMed:14981510). Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:25106868). Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes (PubMed:25106868). Binds to 3'-UTR ARE of numerous mRNAs (PubMed:20506496, PubMed:25106868, PubMed:14981510). Promotes ARE-containing mRNA decay of the low-density lipoprotein (LDL) receptor (LDLR) mRNA in response to phorbol 12-myristate 13-acetate (PMA) treatment in a p38 MAPK-dependent manner (PubMed:25106868). Positively regulates early adipogenesis by promoting ARE-mediated mRNA decay of immediate early genes (IEGs). Plays a role in mature peripheral neuron integrity by promoting ARE-containing mRNA decay of the transcriptional repressor REST mRNA. Plays a role in ovulation and oocyte meiotic maturation by promoting ARE-mediated mRNA decay of the luteinizing hormone receptor LHCGR mRNA. Acts as a negative regulator of erythroid cell differentiation: promotes glucocorticoid-induced self-renewal of erythroid cells by binding mRNAs that are induced or highly expressed during terminal erythroid differentiation and promotes their degradation, preventing erythroid cell differentiation. In association with ZFP36L1 maintains quiescence on developing B lymphocytes by promoting ARE-mediated decay of several mRNAs encoding cell cycle regulators that help B cells progress through the cell cycle, and hence ensuring accurate variable-diversity-joining (VDJ) recombination process and functional immune cell formation. Together w…

9606:USHBP1
gene id: 9606:USHBP1
uniprot id: Q8N6Y0
names: Miscellaneous
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the MCC family.
messages: Due to the retention of an intron in the cDNA leading to a prematurate stop codon.
messages: Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung.
messages: Interacts via its C-terminus with the first PDZ domain of USH1C.

9606:SMCO3
gene id: 9606:SMCO3
uniprot id: A2RU48
names: Subcellular Location Annotation
messages: Membrane

9606:ARID5B
gene id: 9606:ARID5B
uniprot id: Q14865
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ARID5B family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Defects in ARID5B may be a cause of susceptibility to coronary atherosclerosis in the Japanese population.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Methylation at Lys-336 prevents DNA-binding. Demethylation by PHF2 promotes recruitment of the PHF2-ARID5B complex to promoters.
messages: Nucleus
messages: The ARID domain mediates the interaction with DNA.
messages: Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation. Represses the cytomegalovirus enhancer.
messages: Widely expressed, including in liver (at protein level).

9606:ORC5
gene id: 9606:ORC5
uniprot id: A4D0P7
uniprot id: O43913
uniprot id: Q53FC8
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundant in spleen, ovary, prostate, testis, and colon mucosa.
messages: Belongs to the ORC5 family.
messages: Chromosome
messages: Component of ORC, a complex composed of at least 6 subunits: ORC1, ORC2, ORC3, ORC4, ORC5 and ORC6. ORC is regulated in a cell-cycle dependent manner. It is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase.
messages: Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication.
messages: Does not interact with ORC2.
messages: Multi-mono-ubiquitinated by OBI1; ubiquitination is important for efficient DNA replication origin site activation. Ubiquitination levels are low in mitotic and early G1-phAse cells and are induced in late G1-/early S-phase, peaking in S-phase and decrease toward the end of the cell cycle.
messages: Nucleus

9606:MT1H
gene id: 9606:MT1H
uniprot id: A0A140VJP7
uniprot id: P80294
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the metallothionein superfamily. Type 1 family.
messages: Class I metallothioneins contain 2 metal-binding domains: four divalent ions are chelated within cluster A of the alpha domain and are coordinated via cysteinyl thiolate bridges to 11 cysteine ligands. Cluster B, the corresponding region within the beta domain, can ligate three divalent ions to 9 cysteines.
messages: Metallothioneins have a high content of cysteine residues that bind various heavy metals.
messages: Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.
messages: Monomer.

9606:ZNF576
gene id: 9606:ZNF576
uniprot id: Q9H609
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus
messages: Overlaps in opposite strand with ZNF428.

9606:FBN2
gene id: 9606:FBN2
uniprot id: P35556
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Almost exclusively expressed in placenta (PubMed:32329225). Expressed at much lower level in other tissues (PubMed:32329225). Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and in the sclera (PubMed:24899048). Not expressed in the neural retina (PubMed:24899048).
messages: Belongs to the fibrillin family.
messages: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.
messages: Hormone secreted by trophoblasts that promotes trophoblast invasiveness (PubMed:32329225). Has glucogenic activity: is able to increase plasma glucose levels (By similarity).
messages: Interacts with BMP2, BMP4, BMP7, BMP10 and GDF5 (PubMed:18339631). Interacts with MFAP2 and MFAP5 (PubMed:15131124). Interacts with ADAMTSL5 (PubMed:23010571). Interacts with MFAP4 (PubMed:26601954).
messages: N-glycosylated.
messages: O-glycosylated on serine residues by POGLUT2 and POGLUT3.
messages: Present at high level in cytotrophoblasts as compared with syncytiotrophoblasts at 8-9 weeks of pregnancy (at protein level) (PubMed:32329225). Levels in the serum increase during pregnancy (at protein level) (PubMed:32329225).
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular matrix

9606:IL17B
gene id: 9606:IL17B
uniprot id: Q9UHF5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the IL-17 family.
messages: Expressed in adult pancreas, small intestine, stomach, spinal cord and testis. Less pronounced expression in prostate, colon mucosal lining, and ovary.
messages: Secreted
messages: Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1.

9606:RIMBP3B
gene id: 9606:RIMBP3B
uniprot id: A6NNM3
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RIMBP family.
messages: Interacts with LRGUK (via guanylate kinase-like domain). Interacts (via C-terminus) with HOOK1 (via coiled-coil region).
messages: It is uncertain whether Met-1 or Met-95 is the initiator.
messages: Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development.
messages: cytoskeleton

9606:AADAC
gene id: 9606:AADAC
uniprot id: P22760
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the 'GDXG' lipolytic enzyme family.
messages: Can hydrolyze a number of clinical drugs such as flutamide, an antiandrogen drug used for the treatment of prostate cancer; phenacetin, an analgesic antipyretic which has been withdrawn from the market due to its links with renal failure; and rifamycins which have been used as antituberculosis drugs.
messages: Detected in liver (at protein level). Mainly expressed in liver, small intestine, colon, adrenal gland and bladder.
messages: Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity.
messages: Down-regulated following infection with hepatis C virus which results in impaired triacylglycerol lipolysis and impaired assembly of very low density lipoproteins. This may represent a cellular adaptation to infection that is aimed at limiting viral production.
messages: Endoplasmic reticulum membrane
messages: Glycosylation is required for enzyme activity.
messages: Microsome membrane
messages: Three alleles are known: AADAC*1, AADAC*2 and AADAC*3. The sequence shown is that of AADAC*1 which is found in European American, African American, Japanese and Korean populations at allelic frequencies of 39.3 to 47.4%. The AADAC*2 allele is found in European American, African American, Korean, and Japanese populations at allelic frequencies of 52.6 to 63.5% whereas the AADAC*3 allele is found in European American (1.3%) and African American (2.0%) samples but not in Japanese or Korean samples.

9606:CEP290
gene id: 9606:CEP290
uniprot id: A0A6Q8PGB1
uniprot id: J3KNF5
uniprot id: O15078
uniprot id: Q05BJ6
names: Disease Annotation
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasmic vesicle
messages: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973).
messages: Nucleus
messages: Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with ATF4 via its N-terminal region (PubMed:16682973). Associates with the BBSome complex (PubMed:25552655, PubMed:23943788), interacting (via N-terminus) with BBS4 (PubMed:23943788). Interacts with IQCB1/NPHP5; IQCB1 and CEP290/NPHP6 are proposed to form a functional NPHP5-6 module localized to the centrosome. Interacts with NPHP4; the interaction likely requires additional interactors. Interacts with ZNF423, FAM161A, CEP162, CEP162, CEP131, TALPID3, CCDC13, CC2D2A, RPGRIP1 (PubMed:18950740, PubMed:18723859, PubMed:21565611, PubMed:22863007, PubMed:22940612, PubMed:22797915, PubMed:23446637, PubMed:23644468, PubMed:24421332, PubMed:24816561, PubMed:20200501). Can self-associate (homo- or heteromeric) (PubMed:18723859). Interacts with CCP110; required for suppressing cilia formation (PubMed:18694559). Interacts with RPGR (By similarity). Associates (via C-terminus) with microtubules (PubMed:24121310, PubMed:24051377); association to microtubule is reduced in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling (PubMed:24121310). Interacts with FAM161A (By similarity). Interacts with PCM1 (By similarity). Interacts with CCDC66 (PubMed:28235840). Interacts with ARMC9 and CSPP1 (PubMed:32453716).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause its displacement from centriolar satellites.
messages: Ubiquitous. Expressed strongly in placenta and weakly in brain.
messages: centriolar satellite
messages: centriole
messages: centrosome
messages: cilium
messages: cilium basal body

9606:TICAM2
gene id: 9606:TICAM2
uniprot id: Q86XR7
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Early endosome membrane
messages: Endoplasmic reticulum
messages: Expressed in spleen, prostate, testis, uterus, small intestine, colon, peripheral blood leukocytes, heart, placenta, lung, liver, skeletal muscle, and pancreas Isoform 2 is ubiquitously expressed (at lower levels than isoform 1).
messages: Functions as sorting adapter in different signaling pathways to facilitate downstream signaling leading to type I interferon induction (PubMed:16603631, PubMed:16757566, PubMed:25385819, PubMed:25825441). In TLR4 signaling, physically bridges TLR4 and TICAM1 and functionally transmits signal to TICAM1 in early endosomes after endocytosis of TLR4. In TLR2 signaling, physically bridges TLR2 and MYD88 and is required for the TLR2-dependent movement of MYD88 to endosomes following ligand engagement (PubMed:25385819). Involved in IL-18 signaling and is proposed to function as a sorting adapter for MYD88 in IL-18 signaling during adaptive immune response (PubMed:22685567). Forms a complex with RAB11FIP2 that is recruited to the phagosomes to promote the activation of the actin-regulatory GTPases RAC1 and CDC42 and subsequent phagocytosis of Gram-negative bacteria (PubMed:30883606).
messages: Golgi apparatus
messages: Homodimer. Interacts with TLR4, TICAM1, IRF3 and IRF7 in response to LPS. Interacts with IL1R1, IL1RAP, IRAK2, IRAK3 and TRAF6. Interacts with protein kinase-inactive mutants of IRAK1 and IRAK4. Isoform 1 interacts with isoform 2; the interaction occurs in late endosomes and disrupts the interaction between isoform 1 and TICAM1. Interacts with MYD88; the interaction decreases after IL-18 stimulation in a time-dependent manner. Interacts with IL18R1 and IL18RAP. Interacts with TLR2 (PubMed:25385819). Interacts with RAB11FIP2 (PubMed:30883606).
messages: Isoform 1 is myristoylated. Required for membrane association which is critical for its ability to initiate efficient signaling.
messages: Late endosome membrane
messages: Phosphorylated by PRKCE in response to LPS. Phosphorylation is essential for its function. It is depleted from the membrane upon phosphorylation. Tyrosine phosphorylation is inhibited by phosphatase PTPN4.
messages: Proposed to inhibit LPS-TLR4 signaling at the late endosome by interaction with isoform 1 thereby disrupting the association of isoform 1 with TICAM1. May be involved in TLR4 degradation in late endosomes.
messages: The TIR domain mediates the interaction with TRAF6 and MYD88.
messages: phagocytic cup

9606:ADAM32
gene id: 9606:ADAM32
uniprot id: A0A140VJD9
uniprot id: B4DTC2
uniprot id: Q8TC27
names: Caution
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: May play a role in sperm development and fertilization This is a non-catalytic metalloprotease-like protein.
messages: Membrane
messages: Testis specific.

9606:RPL17
gene id: 9606:RPL17
uniprot id: A0A024R261
uniprot id: P18621
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the universal ribosomal protein uL22 family.
messages: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547).
messages: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547).
messages: Cytoplasm
messages: Expressed in pancreas, lung, colon, cystic duct, gall bladder, kidney and liver. Expressed at high levels in the well differentiated pancreatic tumor cell lines HPAF, COLO 357 and Capan-1, the moderately differentiated pancreatic tumor cell lines T3M-4, AsPc-1 and BxPc-3, the poorly differentiated pancreatic tumor cell line MIA PaCa-2, and the pancreatic tumor cell lines of undefined differentiation status such as SW979. Expressed at lower levels in the poorly differentiated pancreatic tumor cell lines HCG-25 and PANC-1.

9606:MRGPRE
gene id: 9606:MRGPRE
uniprot id: Q86SM8
uniprot id: W4VSQ4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family. Mas subfamily.
messages: Cell membrane
messages: Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain.

9606:KLF12
gene id: 9606:KLF12
uniprot id: Q9Y4X4
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Sp1 C2H2-type zinc-finger protein family.
messages: Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alpha gene promoter.
messages: Nucleus
messages: The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. In KLF12, the motif is inactive.

9606:GTPBP2
gene id: 9606:GTPBP2
uniprot id: Q9BX10
names: Disease Annotation
names: Induction
names: Similarity
names: Tissue Specificity
messages: Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily.
messages: Predominantly expressed in thymus, spleen, and testis. Expressed at lower levels in brain, lung, kidney, and ovary.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Up-regulated by IFNG/IFN-gamma in human monocytic cell line THP-1.

9606:NAT8
gene id: 9606:NAT8
uniprot id: Q9UHE5
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylates the free alpha-amino group of cysteine S-conjugates to form mercapturic acids (PubMed:20392701). This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, may have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241).
messages: Belongs to the camello family.
messages: Endoplasmic reticulum membrane
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: Interacts with PROM1. Interacts with BACE1.
messages: Preferentially expressed in liver and kidney. Also detected in brain (at protein level).
messages: Up-regulated by ceramides.

9606:B3GNT9
gene id: 9606:B3GNT9
uniprot id: Q6UX72
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glycosyltransferase 31 family.
messages: Golgi apparatus membrane

9606:IGFL3
gene id: 9606:IGFL3
uniprot id: Q6UXB1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the IGFL family.
messages: Detected in the cerebellum.
messages: Potential ligand of the IGFLR1 cell membrane receptor.
messages: Secreted

9606:PPP1R35
gene id: 9606:PPP1R35
uniprot id: Q8TAP8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the PPP1R35 family.
messages: During centriole duplication, plays a role in the centriole elongation by promoting the recruitment of the microtubule-binding elongation machinery through its interaction with RTTN, leading to the centriole to centrosome conversion (PubMed:30168418, PubMed:30230954). In addition, may play a role in the primary cilia assembly (By similarity).
messages: Interacts with PPP1CA; this interaction mediates the PPP1CA phosphatase activity inhibition (PubMed:19389623, PubMed:30230954). Interacts with RTTN; this interaction allows the mutual recruitment to the centriole (PubMed:30168418).
messages: centriole
messages: centrosome

9606:EFNB3
gene id: 9606:EFNB3
uniprot id: Q15768
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for nipah virus and hendra virus.
messages: (Microbial infection) Interacts with nipah virus and hendra virus glycoprotein (PubMed:16477309, PubMed:17376907).
messages: Belongs to the ephrin family.
messages: Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. May play a pivotal role in forebrain function. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity).
messages: Highly expressed in brain; expressed in embryonic floor plate, roof plate and hindbrain segments.
messages: Interacts with GRIP1 and GRIP2.
messages: Membrane

9606:GSTM2
gene id: 9606:GSTM2
uniprot id: A0A384P5E9
uniprot id: P28161
uniprot id: Q0D2I8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GST superfamily. Mu family.
messages: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Participates in the formation of novel hepoxilin regioisomers (PubMed:21046276).
messages: Cytoplasm
messages: Homodimer.
messages: Muscle.

9606:DSP
gene id: 9606:DSP
uniprot id: B4DKX6
uniprot id: P15924
uniprot id: Q4LE79
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apparently an obligate constituent of all desmosomes.
messages: Belongs to the plakin or cytolinker family.
messages: Cell membrane
messages: Expressed in oral mucosa (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528).
messages: Homodimer. Interacts with COL17A1 (via cytoplasmic region) (PubMed:12482924). Interacts with DSC2 (PubMed:21062920). Interacts with PKP2 (PubMed:11790773, PubMed:22781308). Interacts with PKP1 (PubMed:11790773, PubMed:10852826). Interacts weakly with TMEM65.
messages: Major high molecular weight protein of desmosomes. Regulates profibrotic gene expression in cardiomyocytes via activation of the MAPK14/p38 MAPK signaling cascade and increase in TGFB1 protein abundance (By similarity).
messages: Minor isoform.
messages: Resides predominantly in tissues and cells of stratified origin.
messages: The N-terminal region is required for localization to the desmosomal plaque and interacts with the N-terminal region of PKP1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton
messages: desmosome

9606:OGDH
gene id: 9606:OGDH
uniprot id: A0A140VJQ5
uniprot id: B4E3E9
uniprot id: E9PCR7
uniprot id: Q02218
names: Activity Regulation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: 2-oxoglutarate dehydrogenase (E1o) component of the 2-oxoglutarate dehydrogenase complex (OGDHC) (PubMed:24495017, PubMed:25210035, PubMed:28435050). Participates in the first step, rate limiting for the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) catalyzed by the whole OGDHC (PubMed:24495017, PubMed:25210035, PubMed:28435050). Catalyzes the irreversible decarboxylation of 2-oxoglutarate (alpha-ketoglutarate) via the thiamine diphosphate (ThDP) cofactor and subsequent transfer of the decarboxylated acyl intermediate on an oxidized dihydrolipoyl group that is covalently amidated to the E2 enzyme (dihydrolipoyllysine-residue succinyltransferase or DLST) (PubMed:24495017, PubMed:25210035, PubMed:28435050). Plays a key role in the Krebs (citric acid) cycle, which is a common pathway for oxidation of fuel molecules, including carbohydrates, fatty acids, and amino acids (PubMed:25210035). Can catalyze the decarboxylation of 2-oxoadipate in vitro, but at a much lower rate than 2-oxoglutarate (PubMed:28435050). Mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711).
messages: Belongs to the alpha-ketoglutarate dehydrogenase family.
messages: Calcium ions and ADP stimulate, whereas ATP and NADH reduce catalytic activity.
messages: Mitochondrion
messages: Nucleus
messages: Probably insensitive to calcium.
messages: The 2-oxoglutarate dehydrogenase complex is composed of OGDH (2-oxoglutarate dehydrogenase; E1), DLST (dihydrolipoamide succinyltransferase; E2) and DLD (dihydrolipoamide dehydrogenase; E3). It contains multiple copies of the three enzymatic components (E1, E2 and E3). In the nucleus, the 2-oxoglutarate dehydrogenase complex associates with KAT2A (PubMed:29211711).
messages: The mitochondrial 2-oxoglutarate and 2-oxoadipate dehydrogenase complexes (OGDHC and OADHC, respectively) share their E2 (DLST) and E3 (dihydrolipoyl dehydrogenase or DLD) components, but the E1 component is specific to each complex (E1o and E1a (DHTK1), respectively).

9606:MASTL
gene id: 9606:MASTL
uniprot id: Q96GX5
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
messages: Cleavage furrow
messages: Defects in MASTL may play a role in the pathogenesis of thrombocytopenia, a disorder defined by reduced number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.
messages: Nucleus
messages: Phosphorylation at Thr-741 by CDK1 during M phase activates its kinase activity (By similarity). Maximum phosphorylation occurs in prometaphase.
messages: Reduced levels of MASTL by RNAi causes mitotic abnormalities that consist of delay in G(2) phase and slow chromosome condensation. Cells that enter and progress through mitosis often fail to completely separate their sister chromatids in anaphase leading to the formation of 4N G(1) cells subsequent to failure of cytokinesis (PubMed:20818157 and PubMed:20538976).
messages: Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and 'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high. Following DNA damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro; however such activity is unsure in vivo. May be involved in megakaryocyte differentiation.
messages: centrosome

9606:PPFIA2
gene id: 9606:PPFIA2
uniprot id: B7Z7Y5
uniprot id: G3V200
uniprot id: H0YHK3
uniprot id: O75334
uniprot id: Q4LE62
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Alters PTPRF cellular localization and induces PTPRF clustering. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. In neuronal cells, is a scaffolding protein in the dendritic spines which acts as immobile postsynaptic post able to recruit KIF1A-driven dense core vesicles to dendritic spines (PubMed:30021165).
messages: Belongs to the liprin family. Liprin-alpha subfamily.
messages: Cell surface
messages: Cytoplasm
messages: Expressed only in brain.
messages: Forms homodimers and heterodimers with liprins-alpha and liprins-beta. Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS. Interacts with KIF1A; the interaction decreases in presence of calcium (PubMed:30021165).
messages: The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS.
messages: dendritic spine

9606:HRAS
gene id: 9606:HRAS
uniprot id: P01112
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Glucosylated at Thr-35 by P.sordellii toxin TcsL (PubMed:8626586, PubMed:8626575, PubMed:9632667, PubMed:19744486). Monoglucosylation completely prevents the recognition of the downstream effector, blocking the GTPases in their inactive form, leading to inhibit Ras signaling (PubMed:8626586, PubMed:8626575, PubMed:9632667).
messages: Acetylation at Lys-104 prevents interaction with guanine nucleotide exchange factors (GEFs).
messages: Alternates between an inactive form bound to GDP and an active form bound to GTP. Activated by a guanine nucleotide-exchange factor (GEF) and inactivated by a GTPase-activating protein (GAP).
messages: Belongs to the small GTPase superfamily. Ras family.
messages: Cell membrane
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Fatty-acylated at Lys-170.
messages: Golgi apparatus
messages: Golgi apparatus membrane
messages: In its GTP-bound form interacts with PLCE1 (PubMed:11022048). Interacts with TBC1D10C (PubMed:17230191). Interacts with RGL3 (By similarity). Interacts with HSPD1 (By similarity). Found in a complex with at least BRAF, HRAS, MAP2K1, MAPK3 and RGS14 (By similarity). Interacts (active GTP-bound form) with RGS14 (via RBD 1 domain) (By similarity). Forms a signaling complex with RASGRP1 and DGKZ (PubMed:11257115). Interacts with RASSF5 (PubMed:18596699). Interacts with PDE6D (PubMed:11980706). Interacts with IKZF3 (PubMed:10369681). Interacts with RACK1 (PubMed:14500341). Interacts with PIK3CG; the interaction is required for membrane recruitment and beta-gamma G protein dimer-dependent activation of the PI3K gamma complex PIK3CG:PIK3R6 (By similarity). Interacts with RAPGEF2 (PubMed:10608844, PubMed:11598133).
messages: Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151).
messages: Mutations which change positions 12, 13 or 61 activate the potential of HRAS to transform cultured cells and are implicated in a variety of human tumors.
messages: Nucleus
messages: Palmitoylated by the ZDHHC9-GOLGA7 complex. A continuous cycle of de- and re-palmitoylation regulates rapid exchange between plasma membrane and Golgi.
messages: S-nitrosylated; critical for redox regulation. Important for stimulating guanine nucleotide exchange. No structural perturbation on nitrosylation.
messages: The covalent modification of cysteine by 15-deoxy-Delta12,14-prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S-nitrosylation and S-palmitoylation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by the BCR(LZTR1) E3 ubiquitin ligase complex at Lys-170 in a non-degradative manner, leading to inhibit Ras signaling by decreasing Ras association with membranes.
messages: Widely expressed.
messages: perinuclear region

9606:ADNP2
gene id: 9606:ADNP2
uniprot id: Q6IQ32
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation. May play a role in neuronal function; perhaps involved in protection of brain tissues from oxidative stress. May be involved in erythroid differentiation (By similarity).
messages: May interact with SMARCA4/BRG1.
messages: Nucleus

9606:SLC18A3
gene id: 9606:SLC18A3
uniprot id: Q16572
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Vesicular transporter family.
messages: Electrogenic antiporter that exchanges one cholinergic neurotransmitter, acetylcholine or choline, with two intravesicular protons across the membrane of synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to store neurotransmitters inside the vesicles prior to their release via exocytosis (PubMed:8910293, PubMed:20225888) (By similarity). Determines cholinergic vesicular quantal size at presynaptic nerve terminals in developing neuro-muscular junctions with an impact on motor neuron differentiation and innervation pattern (By similarity). Part of forebrain cholinergic system, regulates hippocampal synapse transmissions that underlie spatial memory formation (By similarity). Can transport serotonin.
messages: Interacts with SEC14L1.
messages: Peripheral and central cholinergic nervous systems.
messages: Potently inhibited by L-vesamicol, reserpine and tetrabenazine.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: synaptic vesicle membrane

9606:PGA3
gene id: 9606:PGA3
uniprot id: P0DJD8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the peptidase A1 family.
messages: Secreted
messages: Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent.

9606:INSL4
gene id: 9606:INSL4
uniprot id: Q14641
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the insulin family.
messages: Expressed in placenta, uterus and in fetal perichondrium. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells.
messages: Highly expressed in the early placenta. Expression of epil peptides in the villous cytotrophoblast is different from that displayed by the syncytiotrophoblast. In fetal tissues it was identified in the perichondrium of all four limbs, vertebrae, and ribs. It was abundant in interbone ligaments.
messages: May play an important role in trophoblast development and in the regulation of bone formation.
messages: Secreted

9606:RPS27A
gene id: 9606:RPS27A
uniprot id: B2RDW1
uniprot id: P62979
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Mono-ADP-ribosylated at Thr-66 by the C.violaceum CteC virulence factor. ADP-ribosylation causes the shutdown of polyubiquitin synthesis and disrupts the recognition and reversal of polyubiquitin.
messages: Component of the 40S subunit of the ribosome.
messages: Cytoplasm
messages: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.
messages: For a better understanding, features related to ubiquitin are only indicated for the first chain.
messages: In the C-terminal section; belongs to the eukaryotic ribosomal protein eS31 family.
messages: In the N-terminal section; belongs to the ubiquitin family.
messages: Mono-ADP-ribosylated at the C-terminus by PARP9, a component of the PPAR9-DTX3L complex. ADP-ribosylation requires processing by E1 and E2 enzymes and prevents ubiquitin conjugation to substrates such as histones.
messages: Nucleus
messages: Phosphorylated at Ser-65 by PINK1 during mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylated ubiquitin specifically binds and activates parkin (PRKN), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291).
messages: Ribosomal protein S27a is part of the 40S ribosomal subunit.
messages: Ubiquitin is encoded by 4 different genes. UBA52 and RPS27A genes code for a single copy of ubiquitin fused to the ribosomal proteins L40 and S27a, respectively. UBB and UBC genes code for a polyubiquitin precursor with exact head to tail repeats, the number of repeats differ between species and strains.

9606:TVP23C-CDRT4
gene id: 9606:TVP23C-CDRT4
uniprot id: A0A0A6YYB9
uniprot id: Q96ET8
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TVP23 family.
messages: Membrane

9606:CBWD5
gene id: 9606:CBWD5
uniprot id: A0A0A6YYH9
uniprot id: Q5JTY5
uniprot id: Q5RIA9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SIMIBI class G3E GTPase family. ZNG1 subfamily.
messages: Nucleus
messages: Zinc chaperone that directly transfers zinc cofactor to target metalloproteins, thereby activating them. Catalyzes zinc insertion into the active site of methionine aminopeptidase METAP1, which function to cleave the initiator methionine from polypeptides during or after protein translation. Mechanistically, the N-terminal psi-PxLVp motif binds to the C6H2-type zinc finger of inactive form of METAP1. After formation of the docked complex, zinc is transferred from the CXCC motif in the GTPase domain of ZNG1C to the zinc binding site in the peptidase domain of METAP1 in a process requiring GTP hydrolysis. GTP/GDP exchange is required for release of active METAP1.
messages: Zinc chaperone that directly transfers zinc cofactor to target metalloproteins, thereby activating them. Catalyzes zinc insertion into the active site of methionine aminopeptidase METAP1, which function to cleave the initiator methionine from polypeptides during or after protein translation. Mechanistically, the N-terminal psi-PxLVp motif binds to the C6H2-type zinc finger of inactive form of METAP1. After formation of the docked complex, zinc is transferred from the CXCC motif in the GTPase domain of ZNG1E to the zinc binding site in the peptidase domain of METAP1 in a process requiring GTP hydrolysis. GTP/GDP exchange is required for release of active METAP1.

9606:EXTL1
gene id: 9606:EXTL1
uniprot id: Q92935
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glycosyltransferase 47 family.
messages: Endoplasmic reticulum membrane
messages: Probable glycosyltransferase.

9606:BCAS3
gene id: 9606:BCAS3
uniprot id: Q9H6U6
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving BCAS3 has been found in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13) with BCAS4.
messages: Belongs to the BCAS3 family.
messages: By estrogen.
messages: Cytoplasm
messages: Expressed in stomach, liver, lung, kidney, prostate, testis, thyroid gland, adrenal gland, brain, heart, skeletal muscle, colon, spleen, small intestine, placenta, blood leukocyte and mammary epithelial cells. Expressed in undifferentiated ES cells. Expressed in blood islands and nascent blood vessels derived from differentiated ES cells into embryoid bodies (BD). Expressed in endothelial cells. Not detected in brain. Expressed in brain tumors (at protein level). Expressed in brain. Highly expressed in breast cancers and in glioma cell lines.
messages: Fetal.
messages: Has been proposed to contain 7 WD repeats. This prediction could not be reproduced.
messages: Interacts with histone H3, ESR1, KAT2B and PELP1; the interactions occur in a estrogen-dependent manner. Interacts with beta-tubulin and VIM. Interacts (via C-terminal) with PHAF1; the interaction is requrired for the association with the phagophore (PubMed:33499712).
messages: Nucleus
messages: Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. Plays a regulatory role in autophagic activity. In complex with PHAF1, associates with the preautophagosomal structure during both non-selective and selective autophagy (PubMed:33499712). Probably binds phosphatidylinositol 3-phosphate (PtdIns3P) which would mediate the recruitment preautophagosomal structures (PubMed:33499712).
messages: Preautophagosomal structure
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton

9606:POU3F2
gene id: 9606:POU3F2
uniprot id: P20265
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the POU transcription factor family. Class-3 subfamily.
messages: Expressed specifically in the neuroectodermal cell lineage.
messages: Interacts with PQBP1 (PubMed:10332029). Interaction with ISL1 (By similarity).
messages: Nucleus
messages: Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, ('GCAT') and ('TAAT'), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). Acts as a transcriptional activator when binding cooperatively with SOX4, SOX11, or SOX12 to gene promoters (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro (By similarity). Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL1, and promotes transcription of neuronal genes (By similarity).

9606:SUGCT
gene id: 9606:SUGCT
uniprot id: B4DJF0
uniprot id: Q9HAC7
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CoA-transferase III family.
messages: Catalyzes the succinyl-CoA-dependent conversion of glutarate to glutaryl-CoA. Can use different dicarboxylic acids as CoA acceptors, the preferred ones are glutarate, succinate, adipate, and 3-hydroxymethylglutarate.
messages: Highly expressed in kidney. Intermediate expression in liver, skeletal muscle and pancreas. Little to no expression detected in other tissues examined.
messages: It is uncertain whether Met-1 or Met-8 is the initiator.
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PAK1
gene id: 9606:PAK1
uniprot id: Q13153
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by binding small G proteins. Binding of GTP-bound CDC42 or RAC1 to the autoregulatory region releases monomers from the autoinhibited dimer, and enables activation by phosphorylation of Thr-423 (PubMed:10995762, PubMed:11804587, PubMed:15893667, PubMed:9032240). Phosphorylation of Thr-84 by OXSR1 inhibits activation (By similarity).
messages: Autophosphorylated in trans, meaning that in a dimer, one kinase molecule phosphorylates the other one. Activated by autophosphorylation at Thr-423 in response to a conformation change, triggered by interaction with GTP-bound CDC42 or RAC1. Activated by phosphorylation at Thr-423 by BRSK2 and by PDPK1. Phosphorylated by JAK2 in response to PRL; this increases PAK1 kinase activity. Phosphorylated at Ser-21 by PKB/AKT; this reduces interaction with NCK1 and association with focal adhesion sites. Upon DNA damage, phosphorylated at Thr-212 and translocates to the nucleoplasm (PubMed:23260667). Phosphorylated at tyrosine residues, which can be enhanced by NTN1 (By similarity).
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
messages: Cell membrane
messages: Chromosome
messages: Cytoplasm
messages: Homodimer; homodimerization results in autoinhibition (PubMed:30290153). Active as monomer. Interacts with GIT1 (PubMed:27012601). Component of cytoplasmic complexes, which also contains PXN, ARHGEF7 and GIT1. Interacts with NISCH (By similarity). Interacts with DVL1; mediates the formation of a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering (By similarity). Binds to the caspase-cleaved p110 isoform of CDC2L1 and CDC2L2, p110C, but not the full-length proteins (PubMed:12624090). Interacts with ARHGEF7 (PubMed:27012601, PubMed:16101281). Interacts tightly with GTP-bound but not GDP-bound CDC42/P21 and RAC1 (By similarity). Interacts with SCRIB (PubMed:18716323). Interacts with PDPK1 (PubMed:10995762). Interacts (via kinase domain) with RAF1 (PubMed:11733498). Interacts with NCK1 and NCK2 (PubMed:10026169). Interacts with TBCB (PubMed:15831477). Interacts with BRSK2 (By similarity). Interacts with SNAI1 (PubMed:15833848). Interacts with CIB1 isoform 2 (PubMed:23503467). Interacts with CIB1 (via N-terminal region); the interaction is direct, promotes PAK1 activity and occurs in a calcium-dependent manner. Interacts with INPP5K (PubMed:26940976). Interacts with gamma-tubulin (PubMed:27012601).
messages: Overexpressed in gastric cancer cells and tissues (at protein level) (PubMed:25766321).
messages: Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes (PubMed:11896197, PubMed:30290153). Can directly phosphorylate BAD and protects cells against apoptosis. Activated by interaction with CDC42 and RAC1. Functions as GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway. Phosphorylates and activates MAP2K1, and thereby mediates activation of downstream MAP kinases. Involved in the reorganization of the actin cytoskeleton, actin stress fibers and of focal adhesion complexes. Phosphorylates the tubulin chaperone TBCB and thereby plays a role in the regulation of microtubule biogenesis and organization of the tubulin cytoskeleton. Plays a role in the regulation of insulin secretion in response to elevated glucose levels. Part of a ternary complex that contains PAK1, DVL1 and MUSK that is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ). Activity is inhibited in cells undergoing apoptosis, potentially due to binding of CDC2L1 and CDC2L2. Phosphorylates MYL9/MLC2. Phosphorylates RAF1 at 'Ser-338' and 'Ser-339' resulting in: activation of RAF1, stimulation of RAF1 translocation to mitochondria, phosphorylation of BAD by RAF1, and RAF1 binding to BCL2. Phosphorylates SNAI1 at 'Ser-246' promoting its transcriptional repressor activity by increasing its accumulation in the nucleus. In podocytes, promotes NR3C2 nuclear localization. Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In synapses, seems to mediate the regulation of F-actin cluster formation performed …
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The interaction between DSCAM, PAK1 and RAC1 has beend described. This article has been withdrawn by the authors.
messages: There are data describing interaction and regulation by the product of CRIPAK, a putative single exon gene (PubMed:16278681). However, considering all available data there is no sufficient supporting evidence for the existence of such protein.
messages: centrosome
messages: focal adhesion
messages: invadopodium
messages: lamellipodium
messages: nucleoplasm
messages: ruffle membrane

9606:ZNF354B
gene id: 9606:ZNF354B
uniprot id: Q96LW1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:SMG8
gene id: 9606:SMG8
uniprot id: Q8ND04
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Belongs to the SMG8 family.
messages: Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminus induces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain (PubMed:33205750). Forms heterodimers with SMG9; this assembly form may represent a SMG1C intermediate form.
messages: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity.
messages: Phosphorylated by SMG1.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SYT17
gene id: 9606:SYT17
uniprot id: H3BN78
uniprot id: H3BRH9
uniprot id: Q9BSW7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the synaptotagmin family.
messages: Expressed abundantly in brain (frontal and temporal lobes, hippocampus, hypothalamus, amygdala, substantia nigra, and pituitary), kidney, and prostate. Expressed in fetal brain, kidney and lung (PubMed:16672768). Expressed in melanocytes (PubMed:23999003).
messages: Membrane
messages: Plays a role in dendrite formation by melanocytes (PubMed:23999003).

9606:SLX4
gene id: 9606:SLX4
uniprot id: Q8IY92
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SLX4 family.
messages: Forms a heterodimer with SLX1A/GIYD1. Interacts with ERCC4/XPF; catalytic subunit of the ERCC4-ERCC1 endonuclease. Interacts with MUS81; catalytic subunit of the MUS81-EME1 endonuclease. Interacts with MSH2; component of the MSH2-MSH3 mismatch repair complex. Interacts with TERF2-TERF2IP. Interacts with PLK1 and SLX4IP.
messages: Nucleus
messages: Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3'-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:KLF11
gene id: 9606:KLF11
uniprot id: O14901
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Sp1 C2H2-type zinc-finger protein family.
messages: By TGFB1.
messages: Interacts with SIN3A.
messages: Nucleus
messages: PubMed:11087666 sequence was originally thought to originate from mouse.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor (PubMed:9748269, PubMed:10207080). Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth (PubMed:9748269, PubMed:10207080, PubMed:16131492). Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity).
messages: Ubiquitous. Higher expression in erythroid cells.

9606:SMIM43
gene id: 9606:SMIM43
uniprot id: Q4W5P6
names: Caution
names: Subcellular Location Annotation
messages: Membrane
messages: This was previously named TMEM55 and corresponded to a 130-residue protein. However, recent evidence suggests that the wrong ORF was originally chosen for this protein and supports an upstream ORF coding for a 63-residue protein.

9606:PSENEN
gene id: 9606:PSENEN
uniprot id: Q9NZ42
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PEN-2 family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111).
messages: Golgi stack membrane
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN.
messages: The high-resolution electron microscopy structures indicate that the N-terminus is cytoplasmic, followed by two short helices that dip into the membrane, but do not cross it (PubMed:26280335). In contrast, results based on mutagenesis to create N-glycosylation sites indicate that the N-terminus is lumenal (PubMed:12639958, PubMed:30598546, PubMed:30630874). Both studies indicate that the C-terminus is lumenal (PubMed:12639958, PubMed:26280335).
messages: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain.

9606:SLC41A3
gene id: 9606:SLC41A3
uniprot id: D3DNA7
uniprot id: Q96GZ6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Acts as a magnesium transporter.
messages: Belongs to the SLC41A transporter family.
messages: Membrane
messages: Mitochondrion inner membrane
messages: Na(+)/Mg(2+) ion exchanger that acts as a predominant Mg(2+) efflux system at the mitochondrial inner membrane.

9606:CD3G
gene id: 9606:CD3G
uniprot id: B0YIY5
uniprot id: P09693
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: A di-leucine motif and a tyrosine-based motif are individually sufficient to induce both endocytosis and delivery to lysosomes.
messages: Cell membrane
messages: Membrane
messages: Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface (PubMed:8187769). Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G.
messages: Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8 (PubMed:2470098). Phosphorylated also by PKC; leading to the TCR complex down-regulation (PubMed:8187769).
messages: Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.
messages: The TCR-CD3 complex is composed of a CD3D/CD3E and a CD3G/CD3E heterodimers that preferentially associate with TCRalpha and TCRbeta, respectively, to form TCRalpha/CD3E/CD3G and TCRbeta/CD3G/CD3E trimers. In turn, the hexamer interacts with CD3Z homodimer to form the TCR-CD3 complex. Alternatively, TCRalpha and TCRbeta can be replaced by TCRgamma and TCRdelta.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:UTF1
gene id: 9606:UTF1
uniprot id: Q5T230
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a transcriptional coactivator of ATF2.
messages: Binds to the N-terminal region of ATF2. Associates with the TFIID complex through interaction with TBP.
messages: Nucleus
messages: Phosphorylated.
messages: The leucine-zipper domain is required for coactivation activity. When this domain is deleted, the protein is able to stimulate transcription from a number of gene promoters (By similarity).

9606:FLCN
gene id: 9606:FLCN
uniprot id: Q8NFG4
names: Activity Regulation
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Based on its structure and in vitro assays, was initially thought to have guanine nucleotide exchange factor (GEF) activity (PubMed:22977732). However, subsequent studies showed that it does not act as GEF in vivo (PubMed:24095279).
messages: Belongs to the folliculin family.
messages: Expressed in fetal lung, kidney, liver, and brain.
messages: Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach.
messages: GTPase-activating activity is inhibited in the folliculin complex (LFC), which stabilizes the GDP-bound state of RRAGA/RagA (or RRAGB/RagB), because Arg-164 is located far from the RRAGC/RagC or RRAGD/RagD nucleotide pocket (PubMed:31672913). Disassembly of the LFC complex upon amino acid restimulation liberates the GTPase-activating activity (PubMed:31672913).
messages: Interacts (via C-terminus) with FNIP1 or FNIP2 (via C-terminus) (PubMed:17028174, PubMed:18403135, PubMed:18663353, PubMed:27353360). Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RRAGA/RagA or RRAGB/RagB GDP-bound, RRAGC/RagC or RRAGD/RagD GTP-bound, and Ragulator (PubMed:31704029, PubMed:31672913). Interaction with FNIP1 or FNIP2 mediates indirect interaction with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5'-AMP-activated protein kinase (AMPK) (PubMed:17028174). Interacts with HSP90AA1 in the presence of FNIP1 (PubMed:27353360). Interacts with HSP70, STUB1, CDC37, AHSA1, CCT2, STIP1, PTGES3 and PPP5C (PubMed:27353360). Interacts with GABARAP; interaction takes place in the presence of FNIP1 and/or FNIP2 (PubMed:25126726). Interacts with RILP; the interaction is direct and promotes association between RILP and RAB34 (PubMed:27113757). Interacts with KIF3A and KIF3B (PubMed:27072130). Interacts with lactate dehydrogenase LDHA, but not LDHB; the interaction is direct, may preferentially bind LDHA dimers rather than tetramers, and regulates LDHA activity, acting as an uncompetitive inhibitor (PubMed:34381247).
messages: Lysosome membrane
messages: Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:31704029, PubMed:31672913, PubMed:34381247). GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:31704029, PubMed:31672913). Regulates glycolysis by binding to lactate dehydrogenase LDHA, acting as an uncompetitive inhibitor (PubMed:34381247). Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RRAGC/RagC or RRAGD/RagD, promoting the conversion to the GDP-bound state of RRAGC/RagC or RRAGD/RagD, and thereby activating the kinase activity of mTORC1 (PubMed:24095279, PubMed:31704029, PubMed:31672913). The GTPase-activating activity is inhibited during starvation and activated in presence of nutrients (PubMed:31672913). Acts as a key component for mTORC1-dependent control of the MiT/TFE factors TFEB and TFE3, while it is not involved in mTORC1-dependent phosphorylation of canonical RPS6KB1/S6K1 and EIF4EBP1/4E-BP1 (PubMed:21209915, PubMed:24081491, PubMed:31672913). In low-amino acid conditions, the lysosomal folliculin complex (LFC) is formed on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, inactivates mTORC1 and maximizes nuclear translocation of TFEB and TFE3 (PubMed:31672913). Upon amino acid restimulation, RRAGA/RagA (or RRAGB/RagB) nucleotide exchange promotes disassembly of the LFC complex and liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent cytoplasmic retention of TFEB and TFE3 (PubMed:31672913). Indirectly acts as a positive regulator of Wnt signaling by promoting mTOR-dependent…
messages: Nucleus
messages: Phosphorylation by ULK1 modulates the interaction with GABARAP and is required to regulate autophagy.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry may be involved in disease pathogenesis.
messages: centrosome
messages: cilium
messages: cytosol
messages: spindle

9606:CYP2C18
gene id: 9606:CYP2C18
uniprot id: P33260
uniprot id: Q7Z348
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: A cytochrome P450 monooxygenase involved in retinoid metabolism. Hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may modulate atRA signaling and clearance. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).
messages: Belongs to the cytochrome P450 family.
messages: Endoplasmic reticulum membrane
messages: Microsome membrane

9606:AFM
gene id: 9606:AFM
uniprot id: P43652
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ALB/AFP/VDB family.
messages: Forms a 1:1 complex with Wnt family members; interacts with WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B.
messages: Functions as carrier for hydrophobic molecules in body fluids (Probable). Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B (PubMed:26902720). Binds vitamin E (PubMed:15952736, PubMed:12463752). May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient (PubMed:15952736). May be involved in the transport of vitamin E across the blood-brain barrier (PubMed:19046407).
messages: High level detected in plasma but also in extravascular fluids such as follicular and cerebrospinal fluids (at protein level).
messages: N-glycosylated; more than 90% of the glycans are sialylated.
messages: Secreted
messages: The second albumin domain forms a deep binding pocket that contains palmitoleic acid (in vitro) (PubMed:29153507). Palmitoleic acid is most likely not the physiological ligand. Instead, this pocket may accomodate the covalently bound lipid moiety of Wnt family members (Probable).

9606:ATP5MC1
gene id: 9606:ATP5MC1
uniprot id: P05496
uniprot id: Q6FIH7
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ATPase C chain family.
messages: Homooligomer (PubMed:31652072). F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MK and ATP5MJ (By similarity). Interacts with TMEM70 (homooligomer form); this interaction facilitates the oligomer formation of subunit c/ATP5MC1 (c-ring) and the c-ring membrane insertion and also protects ATP5MC1 against intramitochondrial proteolysis (PubMed:31652072).
messages: Membrane
messages: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.
messages: Mitochondrion membrane
messages: There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease).
messages: Trimethylated by ATPSCKMT at Lys-104. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration.

9606:IFNA13
gene id: 9606:IFNA13
uniprot id: A0A087WWS6
uniprot id: P01562
names: Function
names: Miscellaneous
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the alpha/beta interferon family.
messages: Interferons alpha-1 and alpha-13 have identical protein sequences.
messages: Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.
messages: Secreted
messages: Two forms exist; alpha-1a (shown here) and alpha-1b (PubMed:11032395).

9606:CREB3
gene id: 9606:CREB3
uniprot id: O43889
names: Caution
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Activates transcription of genes required for reactivation of the latent HSV-1 virus. It's transcriptional activity is inhibited by CREBZF in a HCFC1-dependent manner, by the viral transactivator protein VP16. Binds DNA to the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3') and C/EBP sequences present in many viral promoters.
messages: (Microbial infection) Interacts with the HCV core protein; homodimerization is prevented by the HCV core protein (PubMed:10675342). Isoform 1 interacts (via leucine-zipper and transmembrane domains) with HIV-1 TMgp41 (via cytoplasmic domain); the interaction reduces CREB3 stability (PubMed:17054986). Processed cyclic AMP-responsive element-binding protein 3 interacts with HIV-1 Tat (PubMed:17054986).
messages: (Microbial infection) It's transcriptional activity is inhibited by CREBZF in a HCFC1-dependent manner, by the viral transactivator HCV core protein.
messages: (Microbial infection) May play a role as a cellular tumor suppressor that is targeted by the hepatitis C virus (HCV) core protein.
messages: (Microbial infection) Plays a role in herpes simplex virus-1 (HSV-1) latent infection and reactivation from latency. Represses the VP16-mediated transactivation of immediate early genes of the HSV-1 virus by sequestering host cell factor-1 HCFC1 in the ER membrane of sensory neurons, thereby preventing the initiation of the replicative cascade leading to latent infection.
messages: (Microbial infection) Plays a role in human immunodeficiency virus type 1 (HIV-1) virus protein expression.
messages: All experiments concerning the proteolytic cleavage are done with isoform 1.
messages: Belongs to the bZIP family. ATF subfamily.
messages: Cytoplasm
messages: Does not contain a helical transmembrane domain.
messages: Endoplasmic reticulum (ER)-bound sequence-specific transcription factor that directly binds DNA and activates transcription (PubMed:9271389, PubMed:19779205, PubMed:10984507, PubMed:15845366, PubMed:16940180). Plays a role in the unfolded protein response (UPR), promoting cell survival versus ER stress-induced apoptotic cell death (PubMed:15845366, PubMed:16940180). Also involved in cell proliferation, migration and differentiation, tumor suppression and inflammatory gene expression. Acts as a positive regulator of LKN-1/CCL15-induced chemotaxis signaling of leukocyte cell migration (PubMed:19779205, PubMed:15001559, PubMed:17296613). Associates with chromatin to the HERPUD1 promoter (PubMed:16940180). Also induces transcriptional activation of chemokine receptors (PubMed:18587271, PubMed:17296613).
messages: Endoplasmic reticulum membrane
messages: First proteolytically cleaved by site-1 protease (S1P) that generates membrane-associated N-terminus and a luminal C-terminus forms. The membrane-associated N-terminus form is further proteolytically processed probably by the site-2 protease (S2P) through a regulated intramembrane proteolysis (RIP), releasing the transcriptional active processed cyclic AMP-responsive element-binding protein 3 form, which is transported to the nucleus. The proteolytic cleavage is strongly induced during dendritic cell (DC) maturation and inhibited by DCSTAMP. That form is rapidly degraded.
messages: Functions as a negative transcriptional regulator in ligand-induced transcriptional activation of the glucocorticoid receptor NR3C1 by recruiting and activating histone deacetylases (HDAC1, HDAC2 and HDAC6). Also decreases the acetylation level of histone H4. Does not promote the chemotactic activity of leukocyte cells.
messages: Golgi apparatus
messages: Homodimer (PubMed:10675342). Isoform 1 interacts with HCFC1; the interaction is required to stimulate CREB3 transcriptional activity (PubMed:9271389, PubMed:9389645, PubMed:10629049, PubMed:10984507). Isoform 1 interacts with CREBZF; the interaction occurs only in combination with HCFC1 (PubMed:15705566). Isoform 1 interacts (via central part and transmembrane region) with DCSTAMP (via C-terminus cytoplasmic domain) (PubMed:20546900). Isoform 1 interacts with OS9 (PubMed:20546900). Isoform 1 interacts (via leucine-zipper domain) with CREBRF (via leucine-zipper domain); the interaction occurs only after CREB3 activation and promotes CREB3 degradation (PubMed:18391022). Isoform 1 interacts (via C-terminal domain) with CCR1 (PubMed:15001559).
messages: N-glycosylated.
messages: Nucleus
messages: Probable cloning artifact.
messages: This is the transcriptionally active form that translocates to the nucleus and activates unfolded protein response (UPR) target genes during endoplasmic reticulum (ER) stress response. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3') and C/EBP sequences present in many promoters to activate transcription of the genes. Binds to the unfolded protein response element (UPRE) consensus sequences sites. Binds DNA to the 5'-CCAC[GA]-3'half of ERSE II (5'-ATTGG-N-CCACG-3').
messages: Ubiquitously expressed (PubMed:9271389, PubMed:19779205). Expressed in dendritic cells (DC). Weakly expressed in monocytes (at protein level) (PubMed:20546900).
messages: Up-regulated upon differentiation of monocytes towards immature dendritic cells (DC). Down-regulated upon DC maturation. Up-regulated by endoplasmic reticulum stress triggered by thapsigargin (Tg) or tunicamycin (Tm). Up-regulated by CCR1-dependent chemokines in an immediate early response and biphasic manner and by NF-kappa-B.

9606:POU5F1
gene id: 9606:POU5F1
uniprot id: D2IYK3
uniprot id: F2Z381
uniprot id: M1S623
uniprot id: Q01860
names: Biotechnology
names: Developmental Stage
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the POU transcription factor family. Class-5 subfamily.
messages: Cytoplasm
messages: ERK1/2-mediated phosphorylation at Ser-111 promotes nuclear exclusion and proteasomal degradation. Phosphorylation at Thr-235 and Ser-236 decrease DNA-binding and alters ability to activate transcription.
messages: Expressed in developing brain. Highest levels found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum. Low levels of expression in adult tissues.
messages: Highly expressed in undifferentiated embryonic stem cells and expression decreases gradually after embryoid body (EB) formation.
messages: Interacts with PKM. Interacts with WWP2. Interacts with UBE2I and ZSCAN10 (By similarity). Interacts with PCGF1 (PubMed:26687479). Interacts with ESRRB; recruits ESRRB near the POU5F1-SOX2 element in the NANOG proximal promoter; the interaction is DNA independent (By similarity). Interacts with ZNF322 (By similarity). Interacts with MAPK8 and MAPK9; the interaction allows MAPK8 and MAPK9 to phosphorylate POU5F1 on Ser-355 (By similarity). Interacts (when phosphorylated on Ser-355) with FBXW8 (By similarity). Interacts with FBXW4 (By similarity). Interacts with SOX2 and SOX15; binds synergistically with either SOX2 or SOX15 to DNA (By similarity). Interacts with DDX56 (By similarity).
messages: Nucleus
messages: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes.
messages: Several pseudogenes of POU5F1 have been described on chromosomes 1, 3, 8, 10 and 12. 2 of them, localized in chromosomes 8 and 10, are transcribed in cancer tissues but not in normal ones and may be involved in the regulation of POU5F1 gene activity in carcinogenesis.
messages: Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression.
messages: The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
messages: The POU-specific domain mediates interaction with PKM.
messages: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 or SOX15 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency.
messages: Transcriptional activity is positively regulated by PKM.
messages: Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination by WWP2 leading to proteasomal degradation.

9606:NAIP
gene id: 9606:NAIP
uniprot id: Q13075
names: Domain
names: Function
names: Subunit
names: Tissue Specificity
messages: Acts as a sensor component of the NLRC4 inflammasome that specifically recognizes and binds needle protein CprI from pathogenic bacteria C.violaceum. Association of pathogenic bacteria proteins drives in turn drive assembly and activation of the NLRC4 inflammasome, promoting caspase-1 activation, cytokine production and macrophage pyroptosis. The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria such as C.violaceum and L.pneumophila.
messages: Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at 'Asp-315' and decreasing the rate of auto proteolysis at 'Asp-330'. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor-neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy.
messages: Both the BIR and NACHT domains are essential for effective inhibition of pro-CASP9 cleavage. BIR3 domain binds to procaspase-9 and the NACHT domain interacts with the NACHT domain of APAF1 forming a bridge between pro-CASP9 and APAF1.
messages: Expressed in motor neurons, but not in sensory neurons. Found in liver and placenta, and to a lesser extent in spinal cord.
messages: Interacts (via NACHT domain) with APAF1 (via CARD and NACHT domains). Interacts with C.violaceum needle protein CprI.

9606:KLC4
gene id: 9606:KLC4
uniprot id: A0A024RCZ8
uniprot id: Q9NSK0
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the kinesin light chain family.
messages: Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity).
messages: Kinesin is a microtubule-associated force-producing protein that play a role in organelle transport.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Oligomeric complex composed of two heavy chains and two light chains.
messages: cytoskeleton

9606:RPLP0
gene id: 9606:RPLP0
uniprot id: A0A024RBS2
uniprot id: P05388
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the universal ribosomal protein uL10 family.
messages: Cytoplasm
messages: Nucleus
messages: P0 forms a pentameric complex by interaction with dimers of P1 and P2 (PubMed:3323886). Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs (PubMed:17289661). Interacts with APEX1 (PubMed:19188445). Interacts with FMR1 isoform 6 (PubMed:24658146).
messages: Ribosomal protein P0 is the functional equivalent of E.coli protein L10.

9606:EMC1
gene id: 9606:EMC1
uniprot id: Q8N766
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the EMC1 family.
messages: Component of the ER membrane protein complex (EMC).
messages: Endoplasmic reticulum membrane
messages: Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:30415835, PubMed:29809151, PubMed:29242231, PubMed:32459176, PubMed:32439656). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:30415835, PubMed:29809151, PubMed:29242231). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:30415835, PubMed:29809151). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29809151, PubMed:29242231). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:RMND5A
gene id: 9606:RMND5A
uniprot id: Q9H871
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). Catalytic activity of the complex is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972).
messages: Cytoplasm
messages: Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5 (PubMed:17467196, PubMed:29911972). Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles (PubMed:29911972).
messages: nucleoplasm

9606:PRDX2
gene id: 9606:PRDX2
uniprot id: P32119
uniprot id: V9HW12
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peroxiredoxin family.
messages: Belongs to the peroxiredoxin family. AhpC/Prx1 subfamily.
messages: Cytoplasm
messages: Due to intron retention. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Homodimer; disulfide-linked, upon oxidation (PubMed:27892488). 5 homodimers assemble to form a ring-like decamer (PubMed:27892488). Interacts with TIPIN (PubMed:17141802).
messages: The active site is a conserved redox-active cysteine residue, the peroxidatic cysteine (C(P)), which makes the nucleophilic attack on the peroxide substrate. The peroxide oxidizes the C(P)-SH to cysteine sulfenic acid (C(P)-SOH), which then reacts with another cysteine residue, the resolving cysteine (C(R)), to form a disulfide bridge. The disulfide is subsequently reduced by an appropriate electron donor to complete the catalytic cycle. In this typical 2-Cys peroxiredoxin, C(R) is provided by the other dimeric subunit to form an intersubunit disulfide. The disulfide is subsequently reduced by thioredoxin.
messages: The enzyme can be inactivated by further oxidation of the cysteine sulfenic acid (C(P)-SOH) to sulphinic acid (C(P)-SO2H) instead of its condensation to a disulfide bond. It can be reactivated by forming a transient disulfide bond with sulfiredoxin SRXN1, which reduces the cysteine sulfinic acid in an ATP- and Mg-dependent manner.
messages: Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively.
messages: Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2).

9606:UBE2H
gene id: 9606:UBE2H
uniprot id: A0A3B3IU20
uniprot id: A4D1L5
uniprot id: P62256
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:8132613, PubMed:17588522, PubMed:20061386). E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination (PubMed:20061386). Capable, in vitro, to ubiquitinate histone H2A (PubMed:8132613).
messages: Autoubiquitinated in vitro in the presence of NEDD4L.
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: Interacts with MAEA and WDR26, components of the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5.

9606:GEN1
gene id: 9606:GEN1
uniprot id: Q17RS7
names: Cofactor
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the XPG/RAD2 endonuclease family. GEN subfamily.
messages: Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme. May bind an additional third magnesium ion after substrate binding.
messages: Endonuclease which resolves Holliday junctions (HJs) by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation (PubMed:19020614, PubMed:26682650). Cleaves HJs by a nick and counter-nick mechanism involving dual coordinated incisions that lead to the formation of ligatable nicked duplex products. Cleavage of the first strand is rate limiting, while second strand cleavage is rapid. Largely monomeric, dimerizes on the HJ and the first nick occurs upon dimerization at the junction (PubMed:26578604). Efficiently cleaves both single and double HJs contained within large recombination intermediates. Exhibits a weak sequence preference for incision between two G residues that reside in a T-rich region of DNA (PubMed:28049850). Has also endonuclease activity on 5'-flap and replication fork (RF) DNA substrates (PubMed:26578604).
messages: Largely monomeric, dimerizes on the Holliday junction and the first nick occurs upon dimerization at the junction.
messages: Nucleus
messages: XPG-N, XPG-I,5'-3' exonuclease domains interact with DNA. Contains a chromodomain that acts as additional DNA interaction site and is required for efficient DNA recognition and cleavage.

9606:SLC22A8
gene id: 9606:SLC22A8
uniprot id: B2R807
uniprot id: Q8TCC7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
messages: Functions as an organic anion/dicarboxylate exchanger that couples organic anion uptake indirectly to the sodium gradient (PubMed:14586168, PubMed:15644426, PubMed:15846473, PubMed:16455804, PubMed:31553721). Transports organic anions such as estrone 3-sulfate (E1S) and urate in exchange for dicarboxylates such as glutarate or ketoglutarate (2-oxoglutarate) (PubMed:14586168, PubMed:15846473, PubMed:15864504). Plays an important role in the excretion of endogenous and exogenous organic anions, especially from the kidney and the brain (PubMed:14586168, PubMed:15846473, PubMed:11306713). Responsible for the transport of prostaglandin E2 (PGE2) and prostaglandin F2(alpha) (PGF2(alpha)) in the basolateral side of the renal tubule (PubMed:11907186). May be involved in the basolateral transport of steviol, a metabolite of the popular sugar substitute stevioside (PubMed:15644426). May participate in the detoxification/ renal excretion of drugs and xenobiotics, such as the histamine H(2)-receptor antagonists fexofenadine and cimetidine, the antibiotic benzylpenicillin (PCG), the anionic herbicide 2,4-dichloro-phenoxyacetate (2,4-D), the diagnostic agent p-aminohippurate (PAH), the antiviral acyclovir (ACV), and the mycotoxin ochratoxin (OTA), by transporting these exogenous organic anions across the cell membrane in exchange for dicarboxylates such as 2-oxoglutarate (PubMed:15846473, PubMed:16455804). Contributes to the renal uptake of potent uremic toxins (indoxyl sulfate (IS) and 3-carboxy-4-methyl-5-propyl-2-furanpropionate (CMPF)), pravastatin, PCG, E1S and dehydroepiandrosterone sulfate (DHEAS), and is partly involved in the renal uptake of temocaprilat (an angiotensin-converting enzyme (ACE) inhibitor) (By similarity). May contribute to the release of cortisol in the adrenals (PubMed:15864504). Involved in one of the detoxification systems on the choroid plexus (CP), removes substrates such as E1S or taurocholate (TC), PCG, 2,4-D and PAH, from the cerebrospinal fluid (…
messages: Strongly expressed in kidney (PubMed:11306713, PubMed:11912245). Weaker expression in brain and skeletal muscle (PubMed:11306713). Expressed in adrenal glands (PubMed:15864504).

9606:PLSCR2
gene id: 9606:PLSCR2
uniprot id: Q9NRY7
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the phospholipid scramblase family.
messages: Expression of isoform 1 seems restricted to testis.
messages: Isoform 1 has no prospholipid scramblase activity, due to the lack of a N-terminal proline-rich domain.
messages: May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system.
messages: Membrane
messages: Nucleus
messages: The N-terminal proline-rich domain (PRD) is required for phospholipid scramblase activity.

9606:NR4A2
gene id: 9606:NR4A2
uniprot id: F1D8N6
uniprot id: F1DAL2
uniprot id: P43354
uniprot id: Q53EL4
names: Developmental Stage
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the nuclear hormone receptor family.
messages: Belongs to the nuclear hormone receptor family. NR4 subfamily.
messages: Cytoplasm
messages: Expressed in a number of cell lines of T-cell, B-cell and fibroblast origin. Strong expression in brain tissue.
messages: Interacts with SFPQ, NCOR2, SIN3A and HADC1. The interaction with NCOR2 increases in the absence of PITX3. Interacts with PER2 (By similarity).
messages: Interacts with SFPQ, NCOR2, SIN3A and HADC1. The interaction with NCOR2 increases in the absence of PITX3. Interacts with PER2.
messages: Nucleus
messages: Rapidly and only very transiently expressed after cell activation, during the G0-G1 transition of the cell cycle.
messages: Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity).
messages: the ligand-binding domain (LBD) contains no cavity as a result of the tight packing of side chains from several bulky hydrophobic residues in the region normally occupied by ligands. NR4A2 lacks a 'classical' binding site for coactivators (PubMed:12774125).

9606:KLRK1
gene id: 9606:KLRK1
uniprot id: A0A024RAP8
uniprot id: P26718
names: Function
names: Induction
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Expressed in natural killer (NK) cells, CD8(+) alpha-beta and gamma-delta T-cells. Expressed on essentially all CD56+CD3- NK cells from freshly isolated PBMC. Expressed in interferon-producing killer dendritic cells (IKDCs).
messages: Functions as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-expressing tumor cells. Signaling involves calcium influx, culminating in the expression of TNF-alpha. Participates in NK cell-mediated bone marrow graft rejection. May play a regulatory role in differentiation and survival of NK cells. Binds to ligands belonging to various subfamilies of MHC class I-related glycoproteins including MICA, MICB, RAET1E, RAET1G, RAET1L/ULBP6, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4.
messages: Homodimer; disulfide-linked. Heterohexamer composed of two subunits of KLRK1 and four subunits of HCST/DAP10. Interacts (via transmembrane domain) with HCST/DAP10 (via transmembrane domain); the interaction is required for KLRK1 NK cell surface and induces NK cell-mediated cytotoxicity. Does not interact with TYROBP. Interacts with CEACAM1; recruits PTPN6 that dephosphorylates VAV1 (PubMed:23696226).
messages: Is not capable of signal transduction by itself, but operates through the adapter protein HCST (PubMed:10426994 and PubMed:15894612). Some families of ligands for human and mouse KLRK1 receptors have been characterized being very similar in structure and highly likely to be orthologs. In humans, an additional distinct subfamily of ligands (MICA and MICB) differs structurally, having an extra MHC alpha 3-like domain (PubMed:23298206).
messages: Membrane
messages: Up-regulated by interleukin IL15 in primary NK cells.

9606:OR2W3
gene id: 9606:OR2W3
uniprot id: Q7Z3T1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:MAP9
gene id: 9606:MAP9
uniprot id: Q49MG5
names: Developmental Stage
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Binds to purified microtubules via its C-terminus.
messages: Constitutively expressed during the cell cycle.
messages: Cytoplasm
messages: Involved in organization of the bipolar mitotic spindle. Required for bipolar spindle assembly, mitosis progression and cytokinesis. May act by stabilizing interphase microtubules.
messages: cytoskeleton
messages: spindle

9606:SH3GL2
gene id: 9606:SH3GL2
uniprot id: Q7Z376
uniprot id: Q99962
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes. The BAR domain dimer forms a rigid crescent shaped bundle of helices with the pair of second amphipathic helices protruding towards the membrane-binding surface.
messages: Belongs to the endophilin family.
messages: Brain, mostly in frontal cortex. Expressed at high level in fetal cerebellum.
messages: Cytoplasm
messages: Early endosome
messages: HeLa cells expressing the N-BAR domain of SH3GL2 show tubulation of the plasma membrane. The N-BAR domain binds liposomes and induces formation of tubules from liposomes. The N-terminal amphipathic helix is required for liposome binding. The second amphipathic helix enhances liposome tubulation.
messages: Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from early endosomes.
messages: Membrane
messages: Monomer; in cytoplasm. Homodimer; when associated with membranes (By similarity). Interacts with OPHN1 (By similarity). Interacts with SYNJ1 (PubMed:10542231). Interacts with DNM1 (By similarity). Interacts with MAP4K3; the interaction appears to regulate MAP4K3-mediated JNK activation (By similarity). Interacts with PDCD6IP (PubMed:17350572). Interacts with ATXN2 (PubMed:18602463). Interacts with ADAM9 and ADAM15 cytoplasmic tails (PubMed:10531379). Interacts with BIN2 (PubMed:23285027). Interacts with TMEM108 (By similarity). Interacts with ADGRB2 (PubMed:28891236).
messages: Presynapse

9606:MAD2L2
gene id: 9606:MAD2L2
uniprot id: Q9UI95
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17719540, PubMed:17296730, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194). Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions (PubMed:20164194). Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 (PubMed:17296730). Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle (PubMed:11459825, PubMed:17719540). Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation (PubMed:19443654).
messages: Chromosome
messages: Cytoplasm
messages: Homooligomer (Probable). Heterodimer with REV3L (PubMed:10660610, PubMed:11485998). This dimer forms the minimal DNA polymerase zeta complex (Pol-zeta2), with REV3L bearing DNA polymerase catalytic activity, although its activity is very low in this context (PubMed:11485998). Component of the tetrameric Pol-zeta complex (Pol-zeta4), which consists of REV3L, MAD2L2, POLD2 and POLD3; Pol-zeta4 is the fully active form of DNA polymerase zeta (PubMed:24449906). Component of the shieldin complex, consisting of SHLD1, SHLD2, SHLD3 and MAD2L2/REV7 (PubMed:29656893, PubMed:29789392). Within the complex, SHLD2 forms a scaffold which interacts with a SHLD3-MAD2L2 subcomplex via its N-terminus, and with SHLD1 via its C-terminus (PubMed:29656893). Interacts with REV1 (PubMed:11485998, PubMed:20164194). Interacts with ADAM9 (PubMed:10527948). Interacts with CHAMP1 (PubMed:21063390). Interacts with FZR1 (in complex with the anaphase promoting complex APC) (PubMed:11459825, PubMed:11459826). Interacts with CDC20; PubMed:11459825 could not detect the interaction (PubMed:11459826). Interacts with RAN (PubMed:19753112). Interacts with ELK1; the interaction is direct and recruits MAD2L2 to ELK1-specific promoters (PubMed:17296730). May interact with the JNK kinases MAPK8 and/or MAPK9 to stimulate ELK1 phosphorylation and transcriptional activity upon DNA damage (PubMed:17296730). Interacts with TCF7L2; prevents its binding to promoters and negatively modulates its transcriptional activity (PubMed:19443654). Interacts with YY1AP1 (PubMed:17541814). Interacts with S.flexneri protein ipaB; prevents the interaction of MAD2L2 with FZR1 and CDC20 resulting in an activation of the anaphase-promoting complex APC and a cell cycle arrest (PubMed:17719540). Interacts with PRCC; the interaction is direct (PubMed:11717438). Interacts with POGZ (PubMed:20850016).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed.
messages: spindle

9606:TLE3
gene id: 9606:TLE3
uniprot id: B3KUA2
uniprot id: H0YL70
uniprot id: Q04726
uniprot id: Q6PRX3
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the WD repeat Groucho/TLE family.
messages: Homotetramer and heterooligomer with other family members. Binds LEF1, TCF7 and TCF7L1 (By similarity). Binds FOXA2. Interacts with XIAP/BIRC4 and TCF7L2/TCF4. Interacts with TBX18 (via engrailed homology 1 repressor motif), leading to decreased of TBX18 transcriptional activity.
messages: Nucleus
messages: Placenta and lung.
messages: Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES (By similarity).
messages: Ubiquitinated by XIAP/BIRC4. This ubiquitination does not affect its stability, nuclear localization, or capacity to tetramerize but inhibits its interaction with TCF7L2/TCF4.
messages: WD repeat Groucho/TLE family members are characterized by 5 regions, a glutamine-rich Q domain, a glycine/proline-rich GP domain, a central CcN domain, containing a nuclear localization signal, and a serine/proline-rich SP domain. The most highly conserved are the N-terminal Q domain and the C-terminal WD-repeat domain.

9606:TSPAN10
gene id: 9606:TSPAN10
uniprot id: A0A087X235
uniprot id: F1T0E7
uniprot id: F1T0E8
uniprot id: Q6PJ65
uniprot id: Q9H1Z9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the tetraspanin (TM4SF) family.
messages: Expressed in the eye, including iris, ciliary body, retinal pigment epithelium, but not lens (protein level).
messages: Interacts with ADAM10.
messages: Membrane
messages: Regulates maturation of the transmembrane metalloprotease ADAM10.

9606:SEPTIN11
gene id: 9606:SEPTIN11
uniprot id: A0A384P5S0
uniprot id: Q9NVA2
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving SEPTIN11 may be a cause of chronic neutrophilic leukemia. Translocation t(4;11)(q21;q23) with KMT2A/MLL1.
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Filament-forming cytoskeletal GTPase.
messages: Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy.
messages: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. Forms homooligomers. GTPase activity is required for filament formation. Interacts with SEPTIN7, SEPTIN9 and SEPTIN12.
messages: Septins polymerize into heterooligomeric protein complexes that form filaments.
messages: Synapse
messages: Widely expressed, except in leukocytes.
messages: axon
messages: cytoskeleton
messages: dendritic spine

9606:ELOVL3
gene id: 9606:ELOVL3
uniprot id: Q9HB03
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ELO family. ELOVL3 subfamily.
messages: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and unsaturated acyl-CoA substrates with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.
messages: Endoplasmic reticulum membrane
messages: N-Glycosylated.
messages: Testis.
messages: The C-terminal di-lysine motif may confer endoplasmic reticulum localization.

9606:MARVELD3
gene id: 9606:MARVELD3
uniprot id: Q96A59
names: Function
names: Subcellular Location Annotation
messages: As a component of tight junctions, plays a role in paracellular ion conductivity.
messages: Membrane
messages: tight junction

9606:IL31RA
gene id: 9606:IL31RA
uniprot id: Q8NI17
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5 (PubMed:11877449, PubMed:14504285, PubMed:15627637, PubMed:15194700). May function in skin immunity (PubMed:15184896). Mediates IL31-induced itch, probably in a manner dependent on cation channels TRPA1 and TRPV1 (By similarity). Positively regulates numbers and cycling status of immature subsets of myeloid progenitor cells in bone marrow in vivo and enhances myeloid progenitor cell survival in vitro (By similarity).
messages: Belongs to the type I cytokine receptor family. Type 2 subfamily.
messages: Cell membrane
messages: Expressed in CD14- and CD56-positive blood cells (PubMed:11877449). Expressed in macrophages (PubMed:16461143, PubMed:18439099). Expressed in keratinocytes (PubMed:21261663). Expressed in a subset of dorsal root ganglia neurons (at protein level) (PubMed:24373353). Expressed at low levels in testis, ovary, brain, prostate, placenta, thymus, bone marrow, trachea and skin (PubMed:15184896, PubMed:11877449, PubMed:14504285). Expressed in bronchial and alveolar epithelial cells and pulmonary fibroblasts (PubMed:18439099). Detected in all of the myelomonocytic lineage (PubMed:14504285). Isoform 6: Expressed at higher levels in lesional skin compared to healthy skin of atopic dermatitis patients (PubMed:24373353).
messages: Heterodimer with OSMR. Interacts with JAK1 and STAT3.
messages: Major isoform. Dominant negative IL31 receptor.
messages: Major isoform. Functional IL31 receptor.
messages: N-glycosylated.
messages: Presynaptic cell membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated in lesional keratinocytes of patients with atopic dermatitis (PubMed:16461143). Up-regulated by IFNG/IFN-gamma (PubMed:11877449, PubMed:14504285, PubMed:15184896, PubMed:21261663, PubMed:18439099). Up-regulated by bacterial lipopolysaccharides (LPS) (PubMed:11877449, PubMed:15184896, PubMed:14504285). Up-regulated by triacylated lipoprotein (Pam3Cys) (PubMed:21261663). Up-regulated by TGFB1/TGF-beta (PubMed:18439099).
messages: axon

9606:USP36
gene id: 9606:USP36
uniprot id: Q9P275
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C19 family.
messages: Broadly expressed.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Deubiquitinase essential for the regulation of nucleolar structure and function. Required for cell and organism viability. Plays an important role in ribosomal RNA processing and protein synthesis, which is mediated, at least in part, through deubiquitination of DHX33, NPM1 and FBL, regulating their protein stability (PubMed:29273634, PubMed:19208757, PubMed:22902402). Functions as a transcriptional repressor by deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, such as CDKN1A, thereby preventing histone H3 'Lys-4' trimethylation (H3K4) (PubMed:29274341). Specifically deubiquitinates MYC in the nucleolus, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 3 of FBXW7 (FBW7gamma) in the nucleolus and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm (PubMed:25775507). Interacts to and regulates the actions of E3 ubiquitin-protein ligase NEDD4L over substrates such as NTRK1, KCNQ2 and KCNQ3, affecting their expression an functions (PubMed:27445338). Deubiquitinates SOD2, regulates SOD2 protein stability (PubMed:21268071). Deubiquitinase activity is required to control selective autophagy activation by ubiquitinated proteins (PubMed:22622177).
messages: Interacts with isoform 3 of FBXW7; the interaction inhibits MYC degradation induced by SCF(FBW7) complex (PubMed:25775507). Interacts with NTRK1; USP36 does not deubiquitinate NTRK1 (PubMed:27445338). Interacts with NEDD4L (via domains WW1, 3 and 4); the interaction inhibits ubiquitination of, at least, NTRK1, KCNQ2 and KCNQ3 by NEDD4L (PubMed:27445338).
messages: Polyubiquitinated by NEDD4L, no effect on USP36 protein levels. Both proteins interact with and regulate each other's ubiquitination levels.
messages: nucleolus

9606:FAM156B
gene id: 9606:FAM156B
uniprot id: Q8NDB6
names: Subcellular Location Annotation
messages: Membrane

9606:RRP7A
gene id: 9606:RRP7A
uniprot id: Q9Y3A4
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RRP7 family.
messages: Expressed in the apical radial glial cells in the developing brain.
messages: Interacts with NOL6; required for NOL6 localization to nucleolus.
messages: Nucleolar protein that is involved in ribosomal RNA (rRNA) processing (PubMed:33199730). Also plays a role in primary cilia resorption, and cell cycle progression in neurogenesis and neocortex development (PubMed:33199730).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome
messages: cilium
messages: nucleolus

9606:GPR158
gene id: 9606:GPR158
uniprot id: Q5T848
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 3 family.
messages: Cell membrane
messages: Orphan receptor.

9606:POLR3H
gene id: 9606:POLR3H
uniprot id: A0A024R1P3
uniprot id: Q9Y535
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eukaryotic RPB7/RPC8 RNA polymerase subunit family.
messages: Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity). Interacts with CRCP/RPC9. POLR3H/RPC8 and CRCP/RPC9 probably form a Pol III subcomplex.
messages: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).
messages: Nucleus

9606:PIAS2
gene id: 9606:PIAS2
uniprot id: A0A024RC49
uniprot id: O75928
uniprot id: Q2TA77
names: Developmental Stage
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PIAS family.
messages: Binds SUMO1 and UBE2I. Interacts with AXIN1, JUN, MDM2, PARK7, TP53 and TP73 isoform alpha, but not TP73 isoform beta. Interacts with STAT4 following IL12 and IFN-alpha stimulation of T-cells. Interacts also with GTF2I, GTF2IRD1, IKFZ1, DAB2 and MSX2, as well as with several steroid receptors, including ESR1, ESR2, NR3C1, PGR, AR, and with NCOA2 (By similarity). Sumoylation of a target protein seems to enhance the interaction. Binds to sumoylated ELK1. Binds DNA, such as CDKN1A promoter, in a sequence-specific manner. Interacts with PLAG1. Interacts with KLF8; the interaction results in SUMO ligation and repression of KLF8 transcriptional activity and of its cell cycle progression into G(1) phase. PIAS2-beta interacts with IFIH1/MDA5. Isoform PIAS2-alpha interacts with PML (isoform PML-12). Interacts with PRDM1/Blimp-1 (PubMed:28842558).
messages: Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulator in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. The effects of this transcriptional coregulation, transactivation or silencing may vary depending upon the biological context and the PIAS2 isoform studied. However, it seems to be mostly involved in gene silencing. Binds to sumoylated ELK1 and enhances its transcriptional activity by preventing recruitment of HDAC2 by ELK1, thus reversing SUMO-mediated repression of ELK1 transactivation activity. Isoform PIAS2-beta, but not isoform PIAS2-alpha, promotes MDM2 sumoylation. Isoform PIAS2-alpha promotes PARK7 sumoylation. Isoform PIAS2-beta promotes NCOA2 sumoylation more efficiently than isoform PIAS2-alpha. Isoform PIAS2-alpha sumoylates PML at'Lys-65' and 'Lys-160'.
messages: Isoform 3 expression in adult testis is 14.2-fold stronger than in embryonic testis.
messages: Mainly expressed in testis. Isoform 3 is expressed predominantly in adult testis, weakly in pancreas, embryonic testis and sperm, and at very low levels in other organs.
messages: Nucleus
messages: Nucleus speckle
messages: PML body
messages: Sumoylated.
messages: The LXXLL motif is a transcriptional coregulator signature.
messages: Up-regulated transiently during myeloid differentiation in various cells lines, such as HL-60, U-937, K-562, induced by either phorbol ester (TPA) or retinoic acid.

9606:OR7A17
gene id: 9606:OR7A17
uniprot id: A0A126GVR5
uniprot id: O14581
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:WRAP73
gene id: 9606:WRAP73
uniprot id: Q9P2S5
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Interacts with SSX2IP.
messages: The SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome. Required for the centrosomal localization of SSX2IP and normal mitotic bipolar spindle morphology (PubMed:26545777). Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP, CEP290 and PIBF1/CEP90. Required for ciliogenesis and involved in the removal of the CEP97:CCP110 complex from the mother centriole. Involved in ciliary vesicle formation at the mother centriole and required for the docking of vesicles to the basal body during ciliogenesis; may promote docking of RAB8A- and ARL13B-containing vesicles (PubMed:26675238).
messages: Ubiquitous. Predominant expression in heart, brain, liver, thymus, prostate, and testis, and barely detectable expression in lung.
messages: centriolar satellite
messages: centriole
messages: centrosome

9606:ADRA2A
gene id: 9606:ADRA2A
uniprot id: P08913
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is oxymetazoline > clonidine > epinephrine > norepinephrine > phenylephrine > dopamine > p-synephrine > p-tyramine > serotonin = p-octopamine. For antagonists, the rank order is yohimbine > phentolamine = mianserine > chlorpromazine = spiperone = prazosin > propanolol > alprenolol = pindolol.
messages: Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA2A sub-subfamily.
messages: Cell membrane
messages: It is uncertain whether Met-1 or Met-16 is the initiator.

9606:FGFR4
gene id: 9606:FGFR4
uniprot id: B4DVP5
uniprot id: J3KPQ0
uniprot id: P22455
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: An additional N-terminally truncated cytoplasmic isoform was previously reported to exist. However, the paper was subsequently retracted due to concerns regarding duplication of panels in some figures.
messages: Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
messages: Cell membrane
messages: Endoplasmic reticulum
messages: Endosome
messages: Expressed in gastrointestinal epithelial cells, pancreas, and gastric and pancreatic cancer cell lines.
messages: FGFR4 variants may be involved in the pathogenesis of various cancers. Variant Arg-388 predisposes cancer patients to accelerated disease progression and may be associated with poor prognosis. It has been found in prostate cancer as well as cancers of the breast, colon, head and neck, larynx, lung, skin.
messages: Membrane
messages: Monomer. Homodimer after ligand binding. Interacts with FGF1, FGF2, FGF4, FGF6, FGF8, FGF9, FGF16, FGF17, FGF18, FGF19, FGF21 and FGF23 (in vitro). Binding affinity for FGF family members is enhanced by interactions between FGFs and heparan sulfate proteoglycans. Interacts with KLB; this strongly increases the affinity for FGF19 and FGF23. Affinity for FGF19 is strongly increased by KLB and sulfated glycosaminoglycans. KLB and KL both interact with the core-glycosylated FGFR4 in the endoplasmic reticulum and promote its degradation, so that only FGFR4 with fully mature N-glycans is expressed at the cell surface. Identified in a complex with NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. Interacts with MMP14 and HIP1 (PubMed:11433297, PubMed:16597617, PubMed:17623664, PubMed:18670643, PubMed:20683963, PubMed:20798051, PubMed:21653700, PubMed:7518429, PubMed:8663044). Interacts with STAT3 (PubMed:26675719).
messages: N-glycosylated. Full maturation of the glycan chains in the Golgi is essential for high affinity interaction with FGF19.
messages: Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to dimerization and activation by autophosphorylation on tyrosine residues.
messages: Secreted
messages: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes SRC-dependent phosphorylation of the matrix protease MMP14 and its lysosomal degradation. FGFR4 signaling is down-regulated by receptor internalization and degradation; MMP14 promotes internalization and degradation of FGFR4. Mutations that lead to constitutive kinase activation or impair normal FGFR4 inactivation lead to aberrant signaling.
messages: Ubiquitinated. Subject to proteasomal degradation when not fully glycosylated.

9606:DUSP29
gene id: 9606:DUSP29
uniprot id: Q68J44
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
messages: Cytoplasm
messages: Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues within the same substrate, with a preference for phosphotyrosine as a substrate (PubMed:17498703). Involved in the modulation of intracellular signaling cascades. In skeletal muscle regulates systemic glucose homeostasis by activating, AMPK, an energy sensor protein kinase (By similarity). Affects MAP kinase signaling though modulation of the MAPK1/2 cascade in skeletal muscle promoting muscle cell differentiation, development and atrophy (By similarity).
messages: Homodimer (PubMed:21543850). Interacts with PRKAA2 (By similarity).
messages: Nucleus

9606:AACS
gene id: 9606:AACS
uniprot id: A0A024RBV2
uniprot id: Q86V21
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ATP-dependent AMP-binding enzyme family.
messages: Converts acetoacetate to acetoacetyl-CoA in the cytosol (By similarity). Ketone body-utilizing enzyme, responsible for the synthesis of cholesterol and fatty acids (By similarity).
messages: Converts acetoacetate to acetoacetyl-CoA in the cytosol.
messages: Highly expressed in kidney, heart and brain, but low in liver.
messages: cytosol

9606:LRRC8B
gene id: 9606:LRRC8B
uniprot id: A0A384N5V6
uniprot id: A0A7I2RK03
uniprot id: Q6P9F7
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the LRRC8 family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Heterohexamer (Probable). Oligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8E) to form a heterohexamer (PubMed:24790029, PubMed:26824658, PubMed:28193731). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable).
messages: Membrane
messages: Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731).
messages: The volume-regulated anion channel (VRAC) channel forms a trimer of dimers, with symmetry mismatch between the pore-forming domain and the cytosolic LRR repeats, a topology similar to gap junction proteins.

9606:SNX21
gene id: 9606:SNX21
uniprot id: A0A0S2Z632
uniprot id: Q05DJ0
uniprot id: Q8WY78
uniprot id: Q969T3
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the sorting nexin family.
messages: Binds to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)) and phosphatidylinositol 4,5-bisphosphate. May be involved in several stages of intracellular trafficking.
messages: Cytoplasmic vesicle membrane
messages: Early endosome membrane
messages: Endosome membrane
messages: Highly expressed in fetus liver, but only weakly expressed in brain, skeleton muscle, smooth muscle, and cardiac muscle, kidney, and adrenal gland.
messages: Membrane
messages: Monomer.
messages: The PX domain mediates specific binding to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)).

9606:ZNF396
gene id: 9606:ZNF396
uniprot id: Q96N95
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Cytoplasm
messages: Expressed strongly in liver, moderately in skeletal muscle and weakly in kidney, pancreas, spleen and prostate.
messages: Isoform 1 and isoform 2 act as DNA-dependent transcriptional repressors.
messages: Isoforms 1 and 2 can both homo- and hetero-associate.
messages: Nucleus

9606:TCF7
gene id: 9606:TCF7
uniprot id: B3KQ75
uniprot id: P36402
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TCF/LEF family.
messages: Binds the armadillo repeat of CTNNB1 and forms a stable complex (PubMed:9488439 PubMed:9783587). Interacts with TLE5, TLE1, TLE2, TLE3 and TLE4 (PubMed:9783587, PubMed:11266540). Interacts with MLLT11 (PubMed:26079538). Long isoform interacts (via N-terminus) with SOX13; inhibits WNT-mediated transcriptional activity (PubMed:17218525, PubMed:20028982). Interacts with DAZAP2 (PubMed:19304756).
messages: By TCF7L2 and CTNNB1.
messages: Nucleus
messages: Predominantly expressed in T-cells. Also detected in proliferating intestinal epithelial cells and in the basal epithelial cells of mammary gland epithelium.
messages: Produced by alternative splicing of isoform 4L.
messages: Produced by alternative splicing of isoform 4S.
messages: Transcriptional activator involved in T-cell lymphocyte differentiation. Necessary for the survival of CD4(+) CD8(+) immature thymocytes. Isoforms lacking the N-terminal CTNNB1 binding domain cannot fulfill this role. Binds to the T-lymphocyte-specific enhancer element (5'-WWCAAAG-3') found in the promoter of the CD3E gene. Represses expression of the T-cell receptor gamma gene in alpha-beta T-cell lineages (By similarity). Required for the development of natural killer receptor-positive lymphoid tissue inducer T-cells (By similarity). TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7 and CTNNB1.May also act as feedback transcriptional repressor of CTNNB1 and TCF7L2 target genes.

9606:TNFRSF14
gene id: 9606:TNFRSF14
uniprot id: A0A024R052
uniprot id: Q92956
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for Herpes simplex virus 1/HHV-1.
messages: (Microbial infection) Acts as a receptor for Herpes simplex virus 2/HHV-2.
messages: (Microbial infection) Interacts with herpes simplex virus 1/HHV-1 envelope glycoprotein D.
messages: (Microbial infection) Interacts with herpes simplex virus 2/HHV-2 envelope glycoprotein D.
messages: Belongs to the tumor necrosis factor receptor superfamily.
messages: Cell membrane
messages: Interacts with TRAF2, TRAF3 and TRAF5 (PubMed:9153189, PubMed:9162022). Interacts (via CRD1/TNFR-Cys 1) with CD160; this interaction is direct (PubMed:18193050, PubMed:23761635). Interacts with LTA and TNFSF14 (PubMed:9462508). Interacts (via CRD1/TNFR-Cys 1) in cis and trans with BTLA; the cis interactions inhibits the trans interactions (PubMed:19915044, PubMed:16169851).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: N-glycosylated.
messages: Receptor for four distinct ligands: The TNF superfamily members TNFSF14/LIGHT and homotrimeric LTA/lymphotoxin-alpha and the immunoglobulin superfamily members BTLA and CD160, altogether defining a complex stimulatory and inhibitory signaling network (PubMed:9462508, PubMed:10754304, PubMed:18193050, PubMed:23761635). Signals via the TRAF2-TRAF3 E3 ligase pathway to promote immune cell survival and differentiation (PubMed:19915044, PubMed:9153189, PubMed:9162022). Participates in bidirectional cell-cell contact signaling between antigen presenting cells and lymphocytes. In response to ligation of TNFSF14/LIGHT, delivers costimulatory signals to T cells, promoting cell proliferation and effector functions (PubMed:10754304). Interacts with CD160 on NK cells, enhancing IFNG production and anti-tumor immune response (PubMed:23761635). In the context of bacterial infection, acts as a signaling receptor on epithelial cells for CD160 from intraepithelial lymphocytes, triggering the production of antimicrobial proteins and pro-inflammatory cytokines (By similarity). Upon binding to CD160 on activated CD4+ T cells, down-regulates CD28 costimulatory signaling, restricting memory and alloantigen-specific immune response (PubMed:18193050). May interact in cis (on the same cell) or in trans (on other cells) with BTLA (PubMed:19915044) (By similarity). In cis interactions, appears to play an immune regulatory role inhibiting in trans interactions in naive T cells to maintain a resting state. In trans interactions, can predominate during adaptive immune response to provide survival signals to effector T cells (PubMed:19915044) (By similarity).
messages: The cysteine rich domain I (CRD1/TNFR-Cys 1) is required for interaction with BY55 and BTLA.
messages: Widely expressed, with the highest expression in lung, spleen and thymus. Expressed in a subpopulation of B cells and monocytes (PubMed:18193050). Expressed in naive T cells (PubMed:19915044).

9606:MED12
gene id: 9606:MED12
uniprot id: Q93074
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Mediator complex subunit 12 family.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.
messages: Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Also interacts with CTNNB1 and GLI3.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:POMT2
gene id: 9606:POMT2
uniprot id: Q9UKY4
names: Activity Regulation
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 39 family.
messages: Endoplasmic reticulum membrane
messages: Highly expressed in testis; detected at low levels in most tissues.
messages: Interacts with POMT1.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: N-glycosylated.
messages: Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on activity in vitro.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).

9606:NDUFB7
gene id: 9606:NDUFB7
uniprot id: P17568
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
messages: Belongs to the complex I NDUFB7 subunit family.
messages: Complex I is composed of 45 different subunits.
messages: Contains two C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
messages: Mitochondrion inner membrane
messages: Mitochondrion intermembrane space

9606:ITFG1
gene id: 9606:ITFG1
uniprot id: B4DXC2
uniprot id: F5GXC5
uniprot id: Q8TB96
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TIP family.
messages: Interacts with RUVBL1, RUVBL2 and alpha-tubulin.
messages: Membrane
messages: Modulator of T-cell function. Has a protective effect in graft versus host disease model (By similarity).
messages: Secreted
messages: Ubiquitously expressed.

9606:PRKG1
gene id: 9606:PRKG1
uniprot id: Q13976
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: 65 kDa monomer is produced by proteolytic cleavage.
messages: Autophosphorylation increases kinase activity.
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cGMP subfamily.
messages: Composed of an N-terminal leucine-zipper domain followed by an autoinhibitory domain, which mediate homodimer formation and inhibit kinase activity, respectively. Next, two cGMP-binding domains are followed by the catalytic domain at the C-terminus. Binding of cGMP to cGMP-binding domains results in a conformational change that activates kinase activity by removing the autoinhibitory domain from the catalytic cleft leaving the catalytic domain free to phosphorylate downstream substrates. Isoforms alpha and beta have identical cGMP-binding and catalytic domains but differ in their leucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity.
messages: Cytoplasm
messages: Heterotetramerization is mediated by the interaction between a coiled-coil of PRKG1 and the leucine/isoleucine zipper of PPP1R12A/MBS, the myosin-binding subunit of the myosin phosphatase.
messages: In the absence of cGMP, PRKG1 activity is suppressed by autoinhibitory contacts.
messages: Isoform alpha: parallel homodimer or heterodimer and also heterotetramer. Interacts directly with PPP1R12A. Non-covalent dimer of dimer of PRKG1-PRKG1 and PPP1R12A-PPP1R12A. This interaction targets PRKG1 to stress fibers to mediate smooth muscle cell relaxation and vasodilation in responses to rises in cGMP. Isoform beta: antiparallel homodimer. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1 (By similarity). Interacts with IRAG1. Forms a stable complex with ITPR1, IRAG1, and isoform beta of PRKG1. Interacts with TRPC7 (via ankyrin repeat domain). Isoform alpha interacts with RGS2. Interacts with GTF2I.
messages: Primarily expressed in lung and placenta.
messages: Serine/threonine protein kinase that acts as key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contraction, cardiac function, gene expression, feedback of the NO-signaling pathway, and other processes involved in several aspects of the CNS like axon guidance, hippocampal and cerebellar learning, circadian rhythm and nociception. Smooth muscle relaxation is mediated through lowering of intracellular free calcium, by desensitization of contractile proteins to calcium, and by decrease in the contractile state of smooth muscle or in platelet activation. Regulates intracellular calcium levels via several pathways: phosphorylates IRAG1 and inhibits IP3-induced Ca(2+) release from intracellular stores, phosphorylation of KCNMA1 (BKCa) channels decreases intracellular Ca(2+) levels, which leads to increased opening of this channel. PRKG1 phosphorylates the canonical transient receptor potential channel (TRPC) family which inactivates the associated inward calcium current. Another mode of action of NO/cGMP/PKGI signaling involves PKGI-mediated inactivation of the Ras homolog gene family member A (RhoA). Phosphorylation of RHOA by PRKG1 blocks the action of this protein in myriad processes: regulation of RHOA translocation; decreasing contraction; controlling vesicle trafficking, reduction of myosin light chain phosphorylation resulting in vasorelaxation. Activation of PRKG1 by NO signaling alters also gene expression in a number of tissues. In smooth muscle cells, increased cGMP and PRKG1 activity influence expression of smooth muscle-specific contractile proteins, levels of proteins in…
messages: The 3D structures in complex with cGMP and cAMP describe the hydrogen bonding interactions that modulate high selectivity for cGMP in the CNB-B domain, and reveal that all these contacts are disrupted in the structure with cAMP, explaining the low affinity of the enzyme for cAMP and the fact that cAMP can only weakly activate PKG.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZHX1-C8orf76
gene id: 9606:ZHX1-C8orf76
uniprot id: Q96EF9
names: Miscellaneous
messages: Based on a readthrough transcript which may produce a ZHX1-C8orf76 fusion protein.

9606:CDK2
gene id: 9606:CDK2
uniprot id: A0A024RB10
uniprot id: A0A024RB77
uniprot id: B4DDL9
uniprot id: E7ESI2
uniprot id: G3V5T9
uniprot id: P24941
names: Activity Regulation
names: Cofactor
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the protein kinase superfamily.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
messages: Binds 2 Mg(2+) ions.
messages: Cajal body
messages: Cytoplasm
messages: Endosome
messages: Found in a complex with CABLES1, CCNA1 and CCNE1. Interacts with CABLES1 (By similarity). Interacts with UHRF2. Part of a complex consisting of UHRF2, CDK2 and CCNE1. Interacts with the Speedy/Ringo proteins SPDYA and SPDYC (PubMed:15611625). Interaction with SPDYA promotes kinase activation via a conformation change that alleviates obstruction of the substrate-binding cleft by the T-loop (PubMed:28666995). Found in a complex with both SPDYA and CDKN1B/KIP1 (PubMed:12972555, PubMed:28666995). Binds to RB1 and CDK7. Binding to CDKN1A (p21) leads to CDK2/cyclin E inactivation at the G1-S phase DNA damage checkpoint, thereby arresting cells at the G1-S transition during DNA repair. Associated with PTPN6 and beta-catenin/CTNNB1. Interacts with CACUL1. May interact with CEP63. Interacts with ANKRD17. Interacts with CEBPA (when phosphorylated) (PubMed:15107404). Forms a ternary complex with CCNA2 and CDKN1B; CDKN1B inhibits the kinase activity of CDK2 through conformational rearrangements (PubMed:8684460). Interacts with cyclins A, B1, B3, D, or E (PubMed:10499802, PubMed:10884347, PubMed:12185076, PubMed:23781148). Interacts with CDK2AP2 (PubMed:23781148).
messages: Induced transiently by TGFB1 at an early phase of TGFB1-mediated apoptosis.
messages: Nitrosylated after treatment with nitric oxide (DETA-NO).
messages: Phosphorylated at Thr-160 by CDK7 in a CAK complex (PubMed:28666995). Phosphorylation at Thr-160 promotes kinase activity, whereas phosphorylation at Tyr-15 by WEE1 reduces slightly kinase activity. Phosphorylated on Thr-14 and Tyr-15 during S and G2 phases before being dephosphorylated by CDC25A.
messages: Phosphorylation at Thr-14 or Tyr-15 inactivates the enzyme, while phosphorylation at Thr-160 activates it (PubMed:1396589). Inhibited by 1,25-dihydroxyvitamin D(3) (1,25-(OH)(2)D(3)), AG-024322, N-(4-Piperidinyl)-4-(2,6-dichlorobenzoylamino)-1H-pyrazole-3-carboxamide (AT7519), R547 (Ro-4584820), purine, pyrimidine and pyridine derivatives, 2-aminopyrimidines, paullones, thiazo derivatives, macrocyclic quinoxalin-2-one, pyrazolo[1,5-a]-1,3,5-triazine, pyrazolo[1,5-a]pyrimidine, 2-(1-ethyl-2-hydroxyethylamino)-6-benzylamino-9-isopropylpurine (roscovitine, seliciclib and CYC202), SNS-032 (BMS-387032), triazolo[1,5-a]pyrimidines, staurosporine and olomoucine. Stimulated by MYC. Inactivated by CDKN1A (p21).
messages: Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis. Phosphorylates CTNNB1, USP37, p53/TP53, NPM1, CDK7, RB1, BRCA2, MYC, NPAT, EZH2. Triggers duplication of centrosomes and DNA. Acts at the G1-S transition to promote the E2F transcriptional program and the initiation of DNA synthesis, and modulates G2 progression; controls the timing of entry into mitosis/meiosis by controlling the subsequent activation of cyclin B/CDK1 by phosphorylation, and coordinates the activation of cyclin B/CDK1 at the centrosome and in the nucleus. Crucial role in orchestrating a fine balance between cellular proliferation, cell death, and DNA repair in human embryonic stem cells (hESCs). Activity of CDK2 is maximal during S phase and G2; activated by interaction with cyclin E during the early stages of DNA synthesis to permit G1-S transition, and subsequently activated by cyclin A2 (cyclin A1 in germ cells) during the late stages of DNA replication to drive the transition from S phase to mitosis, the G2 phase. EZH2 phosphorylation promotes H3K27me3 maintenance and epigenetic gene silencing. Phosphorylates CABLES1 (By similarity). Cyclin E/CDK2 prevents oxidative stress-mediated Ras-induced senescence by phosphorylating MYC. Involved in G1-S phase DNA damage checkpoint that prevents cells with damaged DNA from initiating mitosis; regulates homologous recombination-dependent repair by phosphorylating BRCA2, this phosphorylation is low in S phase when recombination is active, but increases as cells progress towards mitosis. In response to DNA damage, double-strand break repair by homologous recombination a reduction of CDK2-mediated BRCA2 phosphorylation. Phosphorylation of RB1 disturbs its interaction with E2F1. NPM1 phosphorylation by cyclin E/CDK2 promotes its dissociates from unduplicated centrosomes, thus initiating centrosome duplication. Cyclin E/CDK2-mediated phosphorylation of NPAT at G1-S transition and until…
messages: centrosome

9606:ZNF18
gene id: 9606:ZNF18
uniprot id: B3KXT5
uniprot id: P17022
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:MAP1B
gene id: 9606:MAP1B
uniprot id: P46821
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: 3 different light chains, LC1, LC2 and LC3, can associate with MAP1A and MAP1B proteins. LC1 interacts with the amino-terminal region of MAP1B. Interacts with ANP32A and TIAM2. Interacts with the tubulin tyrosine TTL (By similarity). Interacts (via C-terminus) with GAN (via Kelch domains) (PubMed:12147674, PubMed:16227972). Interacts (via N-terminus) with DAPK1 (PubMed:18195017). Interacts with TMEM185A (PubMed:15525354). Interacts with MAP1LC3B (PubMed:24089205). Interacts with KIRREL3 (PubMed:25902260). MAP1 light chain LC1 (via C-terminus): Interacts with ELAVL4; the interaction contributes to the association of ELAVL4 with microtubules (By similarity). MAP1 light chain LC1: Interacts with ELAVL2 and ELAVL3 (By similarity).
messages: Belongs to the MAP1 family.
messages: Cytoplasm
messages: Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing.
messages: Has a highly basic region with many copies of the sequence KKEE and KKEI/V, repeated but not at fixed intervals, which is responsible for the binding of MAP1B to microtubules.
messages: LC1 is generated from MAP1B by proteolytic processing.
messages: S-nitrosylation at Cys-2464 enhances interaction with microtubules, and may act as an effector modification for neuronal nitric oxide synthase control of growth-cone size, growth-cone collapse and axon retraction.
messages: Synapse
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: cytoskeleton
messages: dendritic spine

9606:CAPS
gene id: 9606:CAPS
uniprot id: Q13938
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Calcium-binding protein. May play a role in cellular signaling events (Potential).
messages: Cytoplasm
messages: Monomer. Does not form oligomers in the presence of calcium.

9606:ZNF197
gene id: 9606:ZNF197
uniprot id: O14709
uniprot id: Q7Z6G1
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Negative regulator of HIF1A transactivation.
messages: Nucleus

9606:FBXO43
gene id: 9606:FBXO43
uniprot id: Q4G163
names: Disease Annotation
names: Function
names: PTM
names: Subunit
names: Tissue Specificity
messages: Expressed in the testis.
messages: Part of a SCF (SKP1-cullin-F-box) protein ligase complex. According to PubMed:34595750 interaction with SKP1 does not occur. Interacts with ANAPC2; the ineraction is direct, ANAPC4, CDC16, CDC23; the ineraction is direct, ANAPC10; the ineraction is direct and CDC26, during spermatogenesis (PubMed:34595750). May interact with CDC20 (By similarity).
messages: Phosphorylated on Ser-76, Thr-234 and Ser-334 in response to calcium, which is a prerequisite for ubiquitination and proteasomal degradation.
messages: Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (PubMed:34052850, PubMed:34595750). Plays a vital role in modulating the ubiquitilation of CCNB1 and CDK1 during gametogenesis.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated in response to calcium, which promotes proteasomal degradation.

9606:ACVR1
gene id: 9606:ACVR1
uniprot id: D3DPA4
uniprot id: Q04771
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
messages: Bone morphogenetic protein (BMP) type I receptor that is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation (PubMed:20628059, PubMed:22977237). As a type I receptor, forms heterotetrameric receptor complexes with the type II receptors AMHR2, ACVR2A or ACVR2B (PubMed:17911401). Upon binding of ligands such as BMP7 or GDF2/BMP9 to the heteromeric complexes, type II receptors transphosphorylate ACVR1 intracellular domain (PubMed:25354296). In turn, ACVR1 kinase domain is activated and subsequently phosphorylates SMAD1/5/8 proteins that transduce the signal (PubMed:9748228). In addition to its role in mediating BMP pathway-specific signaling, suppresses TGFbeta/activin pathway signaling by interfering with the binding of activin to its type II receptor (PubMed:17911401). Besides canonical SMAD signaling, can activate non-canonical pathways such as p38 mitogen-activated protein kinases/MAPKs (By similarity).
messages: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.
messages: Interacts with FKBP1A (PubMed:22484487, Ref.12). Interacts with FCHO1 (PubMed:22484487). Interacts with CLU (PubMed:8555189). Interacts with type II receptors AMHR2 and ACVR2A (PubMed:17911401). Interacts with BMP7 (PubMed:9748228). Interacts with GDF2/BMP9 (PubMed:20628059). Interacts with BMP6 (PubMed:18070108).
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TBC1D17
gene id: 9606:TBC1D17
uniprot id: Q9HA65
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts with OPTN; this interaction mediates TBC1D17 transient association with Rab8.
messages: Probable RAB GTPase-activating protein that inhibits RAB8A/B function. Reduces Rab8 recruitment to tubules emanating from the endocytic recycling compartment (ERC) and inhibits Rab8-mediated endocytic trafficking, such as that of transferrin receptor (TfR) (PubMed:22854040). Involved in regulation of autophagy.
messages: Recycling endosome
messages: The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
messages: autophagosome

9606:GHSR
gene id: 9606:GHSR
uniprot id: Q92847
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Pituitary and hypothalamus.
messages: Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MRNIP
gene id: 9606:MRNIP
uniprot id: Q6NTE8
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with the MRE11-RAD50-NBN (MRN) damage-sensing complex; this association is constitutive (PubMed:27568553). Interacts with MRE11 (PubMed:27568553). Interacts with NBN (PubMed:27568553). Interacts with RAD50 (PubMed:27568553).
messages: Belongs to the MRNIP family.
messages: Nucleus
messages: Phosphorylated; phosphorylation is constitutive and occurs in the absence of any DNA-damaging stimulus. Phosphorylation on Ser-115 is necessary for its nuclear retention.
messages: Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex (PubMed:27568553). Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair (PubMed:27568553).
messages: nucleoplasm

9606:RAB13
gene id: 9606:RAB13
uniprot id: P51153
names: Activity Regulation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Stearoylated By S.flexneri N-epsilon-fatty acyltransferase IcsB, thereby disrupting the host actin cytoskeleton.
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Detected in several types of epithelia, including intestine, kidney, liver and in endothelial cells.
messages: Interacts (GTP-bound form) with MICALL2; competes with RAB8A and is involved in tight junctions assembly. Interacts (GTP-bound form) with MICALL1. Interacts (GTP-bound form) with MICAL1, MICAL3, MICALCL, EHBP1 and EHBP1L1; ternary complexes of RAB8A, RAB13 and either MICAL1 or EHBP1L1 are possible. Interacts with PRKACA; downstream effector of RAB13 involved in tight junction assembly. Interacts with GRB2; may recruit RAB13 to the leading edge of migrating endothelial cells where it can activate RHOA. Interacts (isoprenylated form) with PDE6D; dissociates RAB13 from membranes. Interacts with BICDL2/BICDR2. Interacts with LEPROT and LEPROTL1.
messages: Rab activation is generally mediated by a guanine exchange factor (GEF), while inactivation through hydrolysis of bound GTP is catalyzed by a GTPase activating protein (GAP). That Rab may be activated by DENND1C, a guanine exchange factor. Activated in response to insulin.
messages: Recycling endosome membrane
messages: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in endocytic recycling and regulates the transport to the plasma membrane of transmembrane proteins like the tight junction protein OCLN/occludin. Thereby, it regulates the assembly and the activity of tight junctions. Moreover, it may also regulate tight junction assembly by activating the PKA signaling pathway and by reorganizing the actin cytoskeleton through the activation of the downstream effectors PRKACA and MICALL2 respectively. Through its role in tight junction assembly, may play a role in the establishment of Sertoli cell barrier. Plays also a role in angiogenesis through regulation of endothelial cells chemotaxis. Also involved in neurite outgrowth. Has also been proposed to play a role in post-Golgi membrane trafficking from the TGN to the recycling endosome. Finally, it has been involved in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore may play a role in glucose homeostasis.
messages: Up-regulated during osteoclast differentiation.
messages: lamellipodium
messages: tight junction
messages: trans-Golgi network membrane

9606:ZGRF1
gene id: 9606:ZGRF1
uniprot id: Q86YA3
names: Subcellular Location Annotation
messages: Membrane

9606:PDE5A
gene id: 9606:PDE5A
uniprot id: G5E9C5
uniprot id: O76074
names: Activity Regulation
names: Caution
names: Cofactor
names: Domain
names: Function
names: PTM
names: Similarity
names: Tissue Specificity
messages: Belongs to the cyclic nucleotide phosphodiesterase family.
messages: Binds 1 Mg(2+) ions per subunit. Binds 2 divalent metal cations per subunit: site 1 preferentially binds zinc, while site 2 has a preference for magnesium. Binds magnesium less tightly than zinc.
messages: Binds 1 Zn(2+) ion per subunit. Binds 2 divalent metal cations per subunit: site 1 preferentially binds zinc, while site 2 has a preference for magnesium. Tightly binds zinc.
messages: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.
messages: Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal regulatory domain which contains two homologous allosteric cGMP-binding regions, A and B.
messages: Expressed in aortic smooth muscle cells, heart, placenta, skeletal muscle and pancreas and, to a much lesser extent, in brain, liver and lung.
messages: Phosphorylation is regulated by binding of cGMP to the two allosteric sites (By similarity). Phosphorylation by PRKG1 leads to its activation.
messages: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP (PubMed:9714779, PubMed:15489334). Specifically regulates nitric-oxide-generated cGMP (PubMed:15489334).
messages: Sildenafil (Viagra) is a highly selective and potent inhibitor of PDE5A and is effective in the treatment of penile erectile dysfunction. Also inhibited by zaprinast.
messages: Was initially thought to act as a major regulator of cardiac hypertrophy in myocytes and muscle and investigations have been made on selective PDE5A inhibitors that could protect against cardiovascular disease. However, while PDE5A regulates nitric-oxide-generated cGMP, nitric oxide signaling is often depressed by heart disease, limiting its effect. Moreover, clinical trial using PDE5A inhibitors were disappointing.

9606:RGPD3
gene id: 9606:RGPD3
uniprot id: A6NKT7
names: Miscellaneous
messages: One of the 8 copies of RANBP2 clustered close to the chromosome 2 centromere.

9606:DBR1
gene id: 9606:DBR1
uniprot id: Q9UK59
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the lariat debranching enzyme family.
messages: Cleaves the 2'-5' phosphodiester linkage at the branch point of excised lariat intron RNA and converts them into linear molecules that can be subsequently degraded, thereby facilitating ribonucleotide turnover (PubMed:10982890, PubMed:16232320). Linked to its role in pre-mRNA processing mechanism, may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis and have an antiviral cell-intrinsic defense function in the brainstem (PubMed:16232320, PubMed:29474921).
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Nucleus
messages: Ubiquitously expressed, strongest expression in the spinal cord and brainstem.

9606:CCND2
gene id: 9606:CCND2
uniprot id: P30279
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as proto-oncogene. Retains ability to bind CDK4, but unable to catalyze efficiently RB phosphorylation and inactivation.
messages: Belongs to the cyclin family. Cyclin D subfamily.
messages: Cytoplasm
messages: Interacts with either CDK4 or CDK6 protein kinase to form a serine/threonine kinase holoenzyme complex (PubMed:8114739, PubMed:18827403). The cyclin subunit imparts substrate specificity to the complex (PubMed:8114739, PubMed:18827403).
messages: Nucleus
messages: Nucleus membrane
messages: Phosphorylation at Thr-280 by MAP kinases is required for ubiquitination and degradation by the DCX(AMBRA1) complex.
messages: Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition (PubMed:8114739, PubMed:18827403). Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase (PubMed:8114739, PubMed:18827403). Hypophosphorylates RB1 in early G(1) phase (PubMed:8114739, PubMed:18827403). Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals (PubMed:8114739, PubMed:18827403).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by the DCX(AMBRA1) complex during the transition from G1 to S cell phase, leading to its degradation: ubiquitination is dependent on Thr-280 phosphorylation (PubMed:33854235, PubMed:33854239). The DCX(AMBRA1) complex represents the major regulator of CCND2 stability during the G1/S transition (PubMed:33854235, PubMed:33854239). Polyubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation (PubMed:22323446).

9606:PHOX2A
gene id: 9606:PHOX2A
uniprot id: O14813
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the paired homeobox family.
messages: May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NUTM2G
gene id: 9606:NUTM2G
uniprot id: Q5VZR2
names: Similarity
messages: Belongs to the NUT family.

9606:SAFB2
gene id: 9606:SAFB2
uniprot id: Q14151
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds to scaffold/matrix attachment region (S/MAR) DNA. Can function as an estrogen receptor corepressor and can also inhibit cell proliferation.
messages: Cytoplasm
messages: Expressed at high levels in the CNS and at low levels in the liver. Expressed in a wide number of breast cancer cell lines.
messages: Interacts with SAFB/SAFB1 and SCAM1. Interacts with isoform 2 SRPK1 and inhibits its activity.
messages: Nucleus

9606:USP22
gene id: 9606:USP22
uniprot id: Q9UPT9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C19 family. UBP8 subfamily.
messages: Component of some SAGA transcription coactivator-HAT complexes, at least composed of ATXN7, ATXN7L3, ENY2, GCN5L2, SUPT3H, TAF10, TRRAP and USP22. Within the SAGA complex, ATXN7L3, ENY2 and USP22 form a subcomplex required for histone deubiquitination (PubMed:18206972, PubMed:27601583). Interacts directly with ATXN7L3; leading to its recruitment to the SAGA complex (PubMed:18206972). Interacts with ATXN7L3 and weakly with ATXN7L3B (PubMed:27601583).
messages: Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression.
messages: Moderately expressed in various tissues including heart and skeletal muscle, and weakly expressed in lung and liver.
messages: Nucleus

9606:ALDH1A3
gene id: 9606:ALDH1A3
uniprot id: A0A024RC95
uniprot id: H0Y2X5
uniprot id: P47895
uniprot id: Q7Z3A2
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the aldehyde dehydrogenase family.
messages: Cytoplasm
messages: Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.
messages: Homotetramer.
messages: NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:RPE65
gene id: 9606:RPE65
uniprot id: Q16518
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the carotenoid oxygenase family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Cell membrane
messages: Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity).
messages: Cytoplasm
messages: Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.
messages: Microsome membrane
messages: Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A) (By similarity).
messages: Retina (at protein level). Retinal pigment epithelium specific.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PRIM1
gene id: 9606:PRIM1
uniprot id: P49642
names: Activity Regulation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subunit
messages: Belongs to the eukaryotic-type primase small subunit family.
messages: Catalytic subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex - primosome/replisome) which play an essential role in the initiation of DNA synthesis (PubMed:9268648, PubMed:9705292, PubMed:17893144, PubMed:24043831, PubMed:26975377, PubMed:25550159, PubMed:31479243). During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1 (By similarity). The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands (PubMed:17893144). These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively (By similarity). In the primase complex, both subunits are necessary for the initial di-nucleotide formation, but the extension of the primer depends only on the catalytic subunit (PubMed:17893144). Synthesizes 9-mer RNA primers (also known as the 'unit length' RNA primers). Incorporates only ribonucleotides in the presence of ribo- and deoxy-nucleotide triphosphates (rNTPs, dNTPs) (PubMed:26975377). Requires template thymine or cytidine to start the RNA primer synthesis, with an adenine or guanine at its 5'-end (PubMed:25550159, PubMed:26975377). Binds single stranded DNA (By similarity).
messages: Heterodimer of a catalytic subunit PRIM1 and a regulatory subunit PRIM2, also known as the DNA primase complex (PubMed:9705292, PubMed:17893144). Interacts with PRIM2 (via C-terminus) (PubMed:17893144). Component of the alpha DNA polymerase complex (also known as the alpha DNA polymerase-primase complex) consisting of four subunits: the catalytic subunit POLA1, the regulatory subunit POLA2, and the primase complex subunits PRIM1 and PRIM2 respectively (PubMed:9705292, PubMed:26975377, PubMed:24043831). Within the complex, POLA1 directly interacts with PRIM2 (By similarity).
messages: The bound zinc ion is not a cofactor. It is bound to a zinc knuckle motif that may be involved in sequence recognition and the binding of ssDNA (By similarity).
messages: The catalytic domain (residues 1-190 and 303-408) adopts a typical 'prim' fold structure formed by two three strand beta-sheets that line the inside of the lower and upper parts, each surrounded by alpha-helices on the outside (PubMed:24043831, PubMed:24239947). It comprises a highly conserved catalytic triad, a structural zinc-binding motif and the nucleotide-binding motifs. The Asp-109, Asp-111 and Asp-306 catalytic triad binds two Mn2+ or Mg2+ ions which activate for nucleophilic attack the 3'-hydroxyl of the growing RNA primer or of the first NTP bound at the initiation site (PubMed:24043831, PubMed:24239947, PubMed:25550159, PubMed:26975377). The nucleotide-binding motifs coordinate the phosphates, the ribose and the base of a NTP molecule (PubMed:24043831). The interaction between O2' of the initiating NTP and Asp-306 stabilizes the ribose during the di-nucleotide synthesis (PubMed:26975377). It is proposed that the first nucleotide binds to the elongation site, followed by binding to the initiation site of a second NTP, which will become the 5'-terminal nucleotide of the primer (PubMed:26975377).
messages: The presence of the regulatory subunit PRIM2/p58 accelerates the kinetics of initiation and primer extension (By similarity). Inhibited by arabinose nucleoside derivatives such as fludarabine and vidarabine (PubMed:31479243).

9606:TP53I13
gene id: 9606:TP53I13
uniprot id: Q8NBR0
names: Function
names: Induction
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in heart, placenta, skeletal muscle, testis, brain and lung.
messages: May act as a tumor suppressor. Inhibits tumor cell growth, when overexpressed.
messages: Up-regulated by genotoxic stresses of adriamycin and/or UV irradiation in a p53/TP53-dependent manner.

9606:PSMB8
gene id: 9606:PSMB8
uniprot id: P28062
uniprot id: X5CMJ9
names: Developmental Stage
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HIV-1 TAT protein.
messages: Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity.
messages: Belongs to the peptidase T1B family.
messages: Component of the proteasome complex.
messages: Component of the proteasome, a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity.
messages: Cytoplasm
messages: Highly expressed in immature dendritic cells (at protein level).
messages: Nucleus
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. Component of the immunoproteasome, where it displaces the equivalent housekeeping subunit PSMB5. Component of the spermatoproteasome, a form of the proteasome specifically found in testis. Directly interacts with POMP. Interacts with TAP1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Involved in the generation of spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119). Acts as a major component of interferon gamma-induced sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes.
messages: Up-regulated by IFNG/IFN-gamma and IRF1 (at protein level). Up-regulated by TNF (at protein level). Up-regulated by tetrodotoxin (TTX) in glial cells. Up-regulated in Crohn's bowel disease (CD). Down-regulated by the selective inhibitor PR-957. Down-regulated in mature dendritic cells by HSV-1 infection. Up-regulated by heat shock treatment.

9606:CABS1
gene id: 9606:CABS1
uniprot id: Q96KC9
names: Function
names: Subcellular Location Annotation
messages: Calcium-binding protein (By similarity). Essential for maintaining the structural integrity of the sperm flagella (By similarity).
messages: Cytoplasm
messages: Mitochondrion inner membrane
messages: acrosome
messages: flagellum

9606:BTBD18
gene id: 9606:BTBD18
uniprot id: B2RXH4
names: Function
names: Subcellular Location Annotation
messages: Nucleus
messages: Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.

9606:CNBD2
gene id: 9606:CNBD2
uniprot id: Q96M20
names: Function
names: Subcellular Location Annotation
messages: Essential for male fertility. Plays an important role in spermatogenesis and regulates sperm motility by controlling the development of the flagellar bending of sperm.
messages: cytosol

9606:FZR1
gene id: 9606:FZR1
uniprot id: Q9UM11
names: Caution
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated. Deacetylated by SIRT2 at Lys-69 and Lys-159; deacetylation enhances the interaction of FZR1 with CDC27, leading to activation of anaphase promoting complex/cyclosome (APC/C).
messages: Belongs to the WD repeat CDC20/Fizzy family.
messages: Contaminating sequence. Sequence of unknown origin in the C-terminal part.
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Cytoplasm
messages: Following DNA damage, it is dephosphorylated by CDC14B in G2 phase, leading to its reassociation with the APC/C, and allowing an efficient G2 DNA damage checkpoint (PubMed:18662541). Phosphorylated by MAK (PubMed:21986944).
messages: Isoform 2 is expressed at high levels in heart, liver, spleen and some cancer cell lines whereas isoform 3 is expressed only at low levels in these tissues.
messages: Major.
messages: Minor.
messages: Nucleus
messages: Originally thought to be phosphorylated by MPF during mitosis. However this paper was retracted due to falsification of data.
messages: Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192).
messages: The unphosphorylated form interacts with APC/C during mitosis (PubMed:26083744, PubMed:9734353). Interacts with NINL (PubMed:17403670). Interacts (in complex with the anaphase promoting complex APC) with MAD2L2; inhibits FZR1-mediated APC/C activation (PubMed:11459825, PubMed:11459826). Interacts with SIRT2 and USP37 (PubMed:21596315, PubMed:22014574). Interacts (via WD repeats) with MAK (PubMed:21986944). Interacts with RBBP8/CtIP; this interaction leads to RBBP8 proteasomal degradation (PubMed:25349192). Interacts with HECW2 (PubMed:24163370). Interacts with SASS6; the interaction is regulated by CENATAC and leads to SASS6 proteasomal degradation (PubMed:31722219). Interacts (via N-terminus) with CCNF (PubMed:27653696). Interacts with CDC6 (PubMed:26818844). Interacts with TK1 (via the KEN box) (PubMed:14701726).
messages: Ubiquitinated by the SCF(CCNF) E3 ubiquitin-protein ligase complex; leading to its degradation by the proteasome.

9606:TF
gene id: 9606:TF
uniprot id: P02787
uniprot id: Q06AH7
names: Disease Annotation
names: Domain
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Binds to Neisseria transferrin-binding protein A (tbpA or tbp1). Forms a large complex with TbpA and TbpB.
messages: (Microbial infection) Binds to Neisseria transferrin-binding protein B (tbpb or tbp2).
messages: (Microbial infection) Binds to Neisseria transferrin-binding proteins A and B via its C-terminal lobe only. The L3 helix finger of TbpA inserts into the C-terminal lobe of TF, altering its conformation and probably disturbing the coordination of iron 2. Electron microscopy suggests that in the TbpA-TbpB-TF complex, TF is captured directly above the loop domain of TbpA in a chamber of about 1000 Angstroms(3) formed by the 3 proteins, where interactions between the proteins serve to abstract iron 2 from TF (PubMed:22343719, PubMed:22327295). Binding to TbpB does not alter the conformation of the C-terminal lobe (PubMed:22343719).
messages: (Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use.
messages: Belongs to the transferrin family.
messages: Different polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1).
messages: Expressed by the liver and secreted in plasma.
messages: Has a bilobed structure, each lobe binds a single Fe(3+) ion. Does not always bind 2 Fe(3+) ions.
messages: Monomer.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.

9606:SCGB1C1
gene id: 9606:SCGB1C1
uniprot id: Q8TD33
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the secretoglobin family.
messages: Secreted

9606:PTBP1
gene id: 9606:PTBP1
uniprot id: A0A7I2V621
uniprot id: P26599
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Monomer. Part of a ternary complex containing KHSRP, PTBP1, PTBP2 and HNRPH1. Interacts with RAVER1 and SFPQ.
messages: Nucleus
messages: Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). Binds to polypyrimidine-rich controlling element (PCE) of CFTR and promotes exon skipping of CFTR exon 9, thereby antagonizing TIA1 and its role in exon inclusion of CFTR exon 9 (PubMed:14966131). Plays a role in the splicing of pyruvate kinase PKM by binding repressively to a polypyrimidine tract flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform (PubMed:20010808). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806).

9606:BATF2
gene id: 9606:BATF2
uniprot id: Q8N1L9
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system. Following infection, participates in the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes (By similarity). Selectively suppresses CCN1 transcription and hence blocks the downstream cell proliferation signals produced by CCN1 and inhibits CCN1-induced anchorage-independent growth and invasion in several cancer types, such as breast cancer, malignant glioma and metastatic melanoma. Possibly acts by interfering with AP-1 binding to CCN1 promoter.
messages: Belongs to the bZIP family.
messages: By type I interferon. Down-regulated in most hepatocellular carcinoma tumorous tissues (at protein level).
messages: Heterodimer; heterodimerizes with JUN family proteins.
messages: Nucleus

9606:FCSK
gene id: 9606:FCSK
uniprot id: Q8N0W3
names: Disease Annotation
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the GHMP kinase family.
messages: Expressed in fibroblasts.
messages: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NECTIN3
gene id: 9606:NECTIN3
uniprot id: Q9NQS3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with C.difficile toxin TcdB, suggesting that it may contribute to TcdB toxin entry into cells (PubMed:26038560). It was however shown that NECTIN3/PVRL3 does not act as a major receptor for TcdB (PubMed:27680706).
messages: Belongs to the nectin family.
messages: Cell membrane
messages: Cis- and trans-homodimer. Can form trans-heterodimers with NECTIN1, NECTIN2, PVR, IGSF4B/Necl-1 and with IGSF4. Interaction between NECTIN1 and NECTIN3 on the pre- and postsynaptic sites, respectively, initiates the formation of puncta adherentia junctions between axons and dendrites. Interacts (via Cytoplasmic domain) with AFDN, providing a connection with the actin cytoskeleton. Binds with low affinity to TIGIT.
messages: Plays a role in cell-cell adhesion through heterophilic trans-interactions with nectin-like proteins or nectins, such as trans-interaction with NECTIN2 at Sertoli-spermatid junctions. Trans-interaction with PVR induces activation of CDC42 and RAC small G proteins through common signaling molecules such as SRC and RAP1. Also involved in the formation of cell-cell junctions, including adherens junctions and synapses. Induces endocytosis-mediated down-regulation of PVR from the cell surface, resulting in reduction of cell movement and proliferation. Plays a role in the morphology of the ciliary body.
messages: Postsynaptic cell membrane
messages: Predominantly expressed in testis and placenta as well as in many cell lines, including epithelial cell lines.

9606:PRAMEF2
gene id: 9606:PRAMEF2
uniprot id: O60811
names: Similarity
messages: Belongs to the PRAME family.

9606:VPS13B
gene id: 9606:VPS13B
uniprot id: Q7Z7G8
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the VPS13 family.
messages: Early endosome membrane
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: Interacts with STX6 (By similarity). Interacts with STX12 (By similarity). Interacts with RAB6A isoform 1 (GTP-bound) and isoform 2 (GTP-bound) (PubMed:25492866). Interacts with RAB6B (GTP-bound) (PubMed:25492866).
messages: Lysosome membrane
messages: Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3-phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:30962439, PubMed:24334764, PubMed:32375900). Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity). Plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (PubMed:21865173). Plays a role in the development of the nervous system, and may be required for neuron projection development (PubMed:25492866, PubMed:32560273). May also play a role during adipose tissue development (PubMed:26358774). Required for maintenance of the ocular lens (By similarity).
messages: Recycling endosome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed (PubMed:12730828). There is apparent differential expression of different transcripts (PubMed:12730828, PubMed:19006247). In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified (PubMed:12730828). These transcripts are also seen in all adult tissues analyzed (PubMed:12730828). A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult (PubMed:12730828). Expression is very low in adult brain tissue (PubMed:12730828). Expressed in peripheral blood lymphocytes (PubMed:33025479). Isoform 1 and isoform 2 are expressed in brain and retina (PubMed:12730828, PubMed:19006247). Isoform 2 is expressed ubiquitously (PubMed:12730828, PubMed:19006247).
messages: acrosome membrane
messages: cis-Golgi network membrane
messages: trans-Golgi network membrane

9606:AP3S2
gene id: 9606:AP3S2
uniprot id: A0A024RC62
uniprot id: P59780
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex (By similarity).
messages: Belongs to the adaptor complexes small subunit family.
messages: Cytoplasmic vesicle membrane
messages: Golgi apparatus
messages: Membrane
messages: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.
messages: Present in all adult tissues examined.

9606:AQP4
gene id: 9606:AQP4
uniprot id: A0A5F9ZHR4
uniprot id: F1DSG4
uniprot id: P55087
uniprot id: V9PBN7
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
messages: Basolateral cell membrane
messages: Belongs to the MIP/aquaporin (TC 1.A.8) family.
messages: Cell membrane
messages: Cell projection
messages: Detected in skeletal muscle (PubMed:29055082). Detected in stomach, along the glandular base region of the fundic gland (at protein level) (PubMed:8601457). Detected in brain, lung and skeletal muscle, and at much lower levels in heart and ovary (PubMed:7559426, PubMed:8601457).
messages: Endosome membrane
messages: Forms a water-specific channel (PubMed:7559426, PubMed:8601457, PubMed:19383790). Plays an important role in brain water homeostasis and in glymphatic solute transport. Required for a normal rate of water exchange across the blood brain interface. Required for normal levels of cerebrospinal fluid influx into the brain cortex and parenchyma along paravascular spaces that surround penetrating arteries, and for normal drainage of interstitial fluid along paravenous drainage pathways. Thereby, it is required for normal clearance of solutes from the brain interstitial fluid, including soluble beta-amyloid peptides derived from APP. Plays a redundant role in urinary water homeostasis and urinary concentrating ability (By similarity).
messages: Homotetramer (PubMed:19383790). The tetramers can form oligomeric arrays in membranes. The size of the oligomers differs between tissues and is smaller in skeletal muscle than in brain. Interaction between AQP4 oligomeric arrays in close-by cells can contribute to cell-cell adhesion (By similarity). Part of a complex containing MLC1, TRPV4, HEPACAM and ATP1B1 (PubMed:22328087).
messages: Isoform 2: Palmitoylated on its N-terminal region. Isoform 1: Not palmitoylated.
messages: Membrane
messages: Phosphorylation by PKC at Ser-180 reduces conductance by 50%. Phosphorylation by PKG at Ser-111 in response to glutamate increases conductance by 40% (By similarity).
messages: sarcolemma

9606:ADPRHL1
gene id: 9606:ADPRHL1
uniprot id: Q8NDY3
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Although it belongs to the ADP-ribosylglycohydrolase family, lacks the metal-binding and substrate-binding residues, suggesting that it has no hydrolase activity.
messages: Belongs to the ADP-ribosylglycohydrolase family.
messages: Required for myofibril assembly and outgrowth of the cardiac chambers in the developing heart (By similarity). Appears to be catalytically inactive, showing no activity against O-acetyl-ADP-ribose (By similarity).
messages: sarcomere

9606:CPTP
gene id: 9606:CPTP
uniprot id: Q5TA50
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the GLTP family.
messages: Cell membrane
messages: Endosome membrane
messages: Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1-phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity and the release of arachidonic acid. Has no activity with galactosylceramide, lactosylceramide, sphingomyelin, phosphatidylcholine, phosphatidic acid and ceramide. C1P transfer is stimulated by phosphatidylserine in C1P source vesicles (PubMed:28011644). Regulates autophagy, inflammasome mediated IL1B and IL18 processing, and pyroptosis, but not apoptosis (PubMed:29164996).
messages: Nucleus outer membrane
messages: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.
messages: cytosol
messages: trans-Golgi network membrane

9606:CLEC12A
gene id: 9606:CLEC12A
uniprot id: Q5QGZ9
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Cell surface receptor that modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases.
messages: Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
messages: Detected in normal myeloid cells and in acute myeloid leukemia cells. Detected in neutrophils, eosinophils, monocytes and dendritic cells. Detected in spleen macrophage-rich red pulp and in lymph node (at protein level). Detected in peripheral blood leukocytes, dendritic cells, bone marrow, monocytes, mononuclear leukocytes and macrophages.
messages: Down-regulated in activated leukocytes recruited to a site of inflammation.
messages: Highly N-glycosylated. Glycosylation varies between cell types.
messages: Interacts with PTPN6 and PTPN11.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

9606:MMP20
gene id: 9606:MMP20
uniprot id: O60882
names: Cofactor
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Autoactivates at least at the 107-Asn-|-Tyr-108 site.
messages: Belongs to the peptidase M10A family.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Binds 2 calcium ions per subunit.
messages: Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361' site.
messages: Expressed specifically in the enamel organ.
messages: Expression initiates prior to the onset of dentin mineralization and continues throughout the secretory stage of amelogenesis.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular matrix

9606:TP53RK
gene id: 9606:TP53RK
uniprot id: Q96S44
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. BUD32 family.
messages: Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.
messages: Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:27903914). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:27903914). TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to the catalytic subunit OSGEP (By similarity). Atypical protein kinase that phosphorylates 'Ser-15' of p53/TP53 protein and may therefore participate in its activation (PubMed:11546806).
messages: Cytoplasm
messages: Highly expressed in testis. Weakly expressed in heart kidney and spleen.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This protein is considered an atypical serine/threonine kinase, because it lacks the conventional structural elements necessary for the substrate recognition as well as a lysine residue that in all other serine/threonine kinases participates in the catalytic event. TP53RK has protein kinase activity in vitro, but in the context of the EKC/KEOPS complex, the catalytic subunit OSGEP switches the activity of TP53RK from kinase into ATPase (By similarity).

9606:ZNF165
gene id: 9606:ZNF165
uniprot id: P49910
uniprot id: Q53Z40
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed specifically in testis.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:INHA
gene id: 9606:INHA
uniprot id: P05111
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TGF-beta family.
messages: Dimeric, linked by one or more disulfide bonds. Inhibin A is a dimer of alpha and beta-A. Inhibin B is a dimer of alpha and beta-B.
messages: Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.
messages: Originally found in ovary (granulosa cells) and testis (Sertoli cells), but widely distributed in many tissues including brain and placenta. In adrenal cortex expression is limited to the zona reticularis and the innermost zona fasciculata in the normal gland, extending centripetally into the zona fasciculata in hyperplasia. Also found in adrenocortical tumors. Also expressed in prostate epithelium of benign prostatic hyperplasia, in regions of basal cell hyperplasia and in nonmalignant regions of high grade prostate cancer. Only circulating inhibin B is found in male, whereas circulating inhibins A and B are found in female.
messages: Proteolytic processing yields a number of bioactive forms. The 20/23 kDa forms consist solely of the mature alpha chain, the 26/29 kDa forms consist of the most N-terminal propeptide linked through a disulfide bond to the mature alpha chain, the 50/53 kDa forms encompass the entire proprotein. Each type can be furthermore either mono- or diglycosylated, causing the mass difference.
messages: Secreted

9606:LIG1
gene id: 9606:LIG1
uniprot id: B4DM52
uniprot id: F5GZ28
uniprot id: P18858
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ATP-dependent DNA ligase family.
messages: DNA ligase that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination.
messages: Interacts with PCNA.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ASB4
gene id: 9606:ASB4
uniprot id: Q9Y574
names: Domain
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Belongs to the ankyrin SOCS box (ASB) family.
messages: Hydroxylation at Asn-246 by HIF1AN may provide an oxygen-dependent regulation mechanism for the function of ASB4 in promoting vascular differentiation.
messages: Interacts with HIF1AN. Component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex formed of CUL2 or CUL5, Elongin BC (ELOB and ELOC), RBX1 and ASB4.
messages: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity).
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

9606:TBXAS1
gene id: 9606:TBXAS1
uniprot id: A0A0A0MSK3
uniprot id: A0A0C4DH47
uniprot id: B4DVP1
uniprot id: P24557
uniprot id: Q53F23
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cytochrome P450 family.
messages: Catalyzes the conversion of prostaglandin H2 (PGH2) to thromboxane A2 (TXA2), a potent inducer of blood vessel constriction and platelet aggregation (PubMed:8436233, PubMed:11297515, PubMed:9873013, PubMed:11097184, PubMed:24009185, PubMed:22735388). Cleaves also PGH2 to 12-hydroxy-heptadecatrienoicacid (12-HHT) and malondialdehyde, which is known to act as a mediator of DNA damage. 12-HHT and malondialdehyde are formed stoichiometrically in the same amounts as TXA2 (PubMed:11297515, PubMed:9873013, PubMed:22735388). Additionally, displays dehydratase activity, toward (15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate (15(S)-HPETE) producing 15-KETE and 15-HETE (PubMed:17459323).
messages: Endoplasmic reticulum membrane
messages: It is uncertain whether Met-1 is the initiator. An alternative upstream Met is found in primates, but not in other mammals.
messages: Monomer.
messages: Platelets, lung, kidney, spleen, macrophages and lung fibroblasts.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Thromboxane synthetase deficiency has been detected in some patients with a bleeding disorder due to platelet dysfunction.

9606:ZNF606
gene id: 9606:ZNF606
uniprot id: Q8WXB4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May act as a transcriptional repressor.
messages: Nucleus
messages: Widely expressed in adult and fetal tissues.

9606:TAF1D
gene id: 9606:TAF1D
uniprot id: A0A024R3A9
uniprot id: Q9H5J8
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B, TAF1C and TAF1D. Interacts with UBTF.
messages: Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits.
messages: Nucleus

9606:NEDD1
gene id: 9606:NEDD1
uniprot id: Q8NHV4
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: During mitosis, prior phosphorylation on Thr-550 by CDK1 promotes subsequent phosphorylation by PLK1 on Thr-382, Ser-397, Ser-426 and Ser-637. Phosphorylated NEDD1 can interact with gamma-tubulin for targeting the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation.
messages: Interacts with FAM29A (PubMed:19029337). Interacts with HSPA1A and HSPA1B. Interacts with gamma-tubulin in a HSPA1A/B-dependent manner (PubMed:27137183).
messages: Required for mitosis progression. Promotes the nucleation of microtubules from the spindle.
messages: centrosome

9606:TMEM115
gene id: 9606:TMEM115
uniprot id: A0A024R2Y2
uniprot id: Q12893
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TMEM115 family.
messages: Expressed strongly in kidney and skeletal muscle, followed by liver, placenta, pancreas, and lung, with low amounts in heart and only traces in brain (PubMed:11085536). Widely expressed with ubiquitous expression in epithelial tissues (at protein level) (PubMed:17973242).
messages: Golgi stack membrane
messages: Homooligomer (PubMed:24806965). Interacts with COPB1 (PubMed:24806965). May interact with LMAN1 (PubMed:24806965). Interacts with the COG complex; probably through COG3 (PubMed:24806965).
messages: May play a role in retrograde transport of proteins from the Golgi to the endoplasmic reticulum. May indirectly play a role in protein glycosylation in the Golgi.
messages: Membrane

9606:KIZ
gene id: 9606:KIZ
uniprot id: A0A087X251
uniprot id: Q2M2Z5
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the kizuna family.
messages: Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole.
messages: Interacts with AKAP9, CEP72, ODF2, PCNT and TUBGCP2.
messages: Kizuna means 'bonds' in Japanese.
messages: Phosphorylation at Thr-379 by PLK1 is not needed for centrosomal localization or pericentriolar material expansion but is indispensable for spindle-pole stabilization.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome
messages: cilium basal body

9606:KIAA0895
gene id: 9606:KIAA0895
uniprot id: Q8NCT3
names: Cofactor
names: Domain
names: Function
messages: Binds 1 zinc ion per subunit.
messages: Putative metalloprotease with an atypical HExxxH zinc-binding motif instead of HExxH, which interrupts the active site-containing helix without affecting the integrity of the catalytic site arrangement.
messages: Putative tyrosine carboxypeptidase.

9606:STK17B
gene id: 9606:STK17B
uniprot id: O94768
uniprot id: Q53QE7
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylated.
messages: Belongs to the protein kinase superfamily.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. DAP kinase subfamily.
messages: Cell membrane
messages: Endoplasmic reticulum-Golgi intermediate compartment
messages: Highly expressed in placenta, lung, pancreas. Lower levels in heart, brain, liver, skeletal muscle and kidney.
messages: Interacts with CHP1; the interaction induces CHP1 to translocate from the Golgi to the nucleus.
messages: Nucleus
messages: Phosphorylates myosin light chains (By similarity). Acts as a positive regulator of apoptosis.

9606:TLR3
gene id: 9606:TLR3
uniprot id: O15455
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Toll-like receptor family.
messages: Early endosome
messages: Endoplasmic reticulum membrane
messages: Endosome membrane
messages: Expressed at high level in placenta and pancreas. Also detected in CD11c+ immature dendritic cells. Only expressed in dendritic cells and not in other leukocytes, including monocyte precursors. TLR3 is the TLR that is expressed most strongly in the brain, especially in astrocytes, glia, and neurons.
messages: Heavily N-glycosylated, except on that part of the surface of the ectodomain that is involved in ligand binding.
messages: Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response.
messages: Monomer and homodimer; dimerization is triggered by ligand-binding, the signaling unit is composed of one ds-RNA of around 40 bp and two TLR3 molecules, and lateral clustering of signaling units along the length of the ds-RNA ligand is required for TLR3 signal transduction. Interacts (via transmembrane domain) with UNC93B1; the interaction is required for transport from the ER to the endosomes (PubMed:33432245). Interacts with SRC; upon binding of double-stranded RNA. Interacts with TICAM1 (via the TIR domain) in response to poly(I:C) and this interaction is enhanced in the presence of WDFY1 (PubMed:25736436). The tyrosine-phosphorylated form (via TIR domain) interacts with WDFY1 (via WD repeat 2) in response to poly(I:C) (PubMed:25736436).
messages: TLR3 signaling requires a proteolytic cleavage mediated by cathepsins CTSB and CTSH, the cleavage occurs between amino acids 252 and 346. The cleaved form of TLR3 is the predominant form found in endosomes.
messages: The Phe-412 allele (dbSNP:rs3775291) occurs with a frequency of 30% in populations with European and Asian ancestry, and confers some natural resistance to HIV-1 infection.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: ds-RNA binding is mediated by LRR 1 to 3, and LRR 17 to 18.

9606:SERINC2
gene id: 9606:SERINC2
uniprot id: Q96IM8
uniprot id: Q96SA4
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TDE1 family.
messages: Membrane

9606:CYB5R3
gene id: 9606:CYB5R3
uniprot id: P00387
names: Disease Annotation
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
messages: Catalyzes the reduction of two molecules of cytochrome b5 using NADH as the electron donor.
messages: Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MTARC2 (By similarity). Interacts with MTLN; the interaction is required to maintain cellular lipid composition and leads to stimulation of mitochondrial respiratory complex I activity (By similarity).
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Expressed at late stages of erythroid maturation.
messages: Mitochondrion outer membrane
messages: Ser-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzyme activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PTP4A2
gene id: 9606:PTP4A2
uniprot id: Q12974
names: Activity Regulation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A processed pseudogene with 96% sequence identity was found in the BRCA1 (113705) region of 17q21.
messages: Belongs to the protein-tyrosine phosphatase family.
messages: Cell membrane
messages: Cytoplasm
messages: Early endosome
messages: Farnesylated. Farnesylation is required for membrane targeting and for interaction with RABGGTB. Unfarnesylated forms are redirected to the nucleus and cytosol.
messages: In contrast to PTP4A1 and PTP4A3, does not interact with tubulin. Interacts with RABGGTB.
messages: Inhibited by sodium orthovanadate and pentamidine.
messages: Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Promotes tumors. Inhibits geranylgeranyl transferase type II activity by blocking the association between RABGGTA and RABGGTB.
messages: Ubiquitously expressed, with highest levels in skeletal muscle, heart and thymus. Overexpressed in prostate tumor tissue.

9606:SUFU
gene id: 9606:SUFU
uniprot id: A0A223LX15
uniprot id: Q9UMX1
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SUFU family.
messages: Cytoplasm
messages: Major isoform.
messages: May form homodimers (PubMed:10564661). Part of a DNA-bound corepressor complex containing SAP18, GLI1 and SIN3 (By similarity). Part of a complex containing CTNNB1 (By similarity). Binds BTRC, GLI2, GLI3, SAP18 and STK36 (PubMed:10564661, PubMed:10806483). Binds both free and DNA-bound GLI1 (PubMed:10559945, PubMed:15367681, PubMed:24217340, PubMed:24311597, PubMed:28965847). Interacts with KIF7 (By similarity). Interacts with GLI3FL and this interaction regulates the formation of either repressor or activator forms of GLI3 (PubMed:24311597, PubMed:28965847). Its association with GLI3FL is regulated by Hh signaling and dissociation of the SUFU-GLI3 interaction requires the presence of the ciliary motor KIF3A (PubMed:24311597, PubMed:28965847). Interacts with ULK3; inactivating the protein kinase activity of ULK3 (PubMed:20643644). Interacts with RAB23 (PubMed:22365972).
messages: Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A).
messages: Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:27234298, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL) (PubMed:24311597, PubMed:28965847). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state (PubMed:24311597, PubMed:28965847). Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R (PubMed:24311597, PubMed:28965847). When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A) (PubMed:24311597, PubMed:28965847). Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).
messages: Nucleus
messages: Phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 prevents ubiquitination by the SCF(FBXL17) complex.
messages: Polyubiquitinated at Lys-257 by the SCF(FBXL17) complex, leading to its subsequent degradation and allowing the release of GLI1 for proper hedgehog/smoothened signal transduction (PubMed:27234298). Ubiquitination is impaired by phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 (PubMed:27234298).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing limb of 12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected in fetal testis, and at much lower levels in fetal brain, lung and kidney.

9606:XPC
gene id: 9606:XPC
uniprot id: Q01831
uniprot id: X5DRB1
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the XPC family.
messages: Chromosome
messages: Component of the XPC complex composed of XPC, RAD23B and CETN2 (PubMed:11279143, PubMed:12509233, PubMed:15964821, PubMed:17897675, PubMed:16627479, PubMed:16533048). Interacts with RAD23A; the interaction is suggesting the existence of a functional equivalent variant XPC complex (PubMed:9372924). Interacts with TDG; the interaction is demonstrated using the XPC:RAD23B dimer (PubMed:12505994, PubMed:20798892). Interacts with SMUG1; the interaction is demonstrated using the XPC:RAD23B dimer (PubMed:20798892). Interacts with DDB2 (PubMed:15882621). Interacts with CCNH, GTF2H1 and ERCC3 (PubMed:10734143, PubMed:12509233). Interacts with E2F1 and KAT2A; leading to KAT2A recruitment to promoters and subsequent acetylation of histones (PubMed:29973595, PubMed:31527837).
messages: Cytoplasm
messages: In absence of DNA repair, the XPC complex also acts as a transcription coactivator: XPC interacts with the DNA-binding transcription factor E2F1 at a subset of promoters to recruit KAT2A and histone acetyltransferase complexes (HAT) (PubMed:29973595, PubMed:31527837). KAT2A recruitment specifically promotes acetylation of histone variant H2A.Z.1/H2A.Z, but not H2A.Z.2/H2A.V, thereby promoting expression of target genes (PubMed:31527837).
messages: Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex (PubMed:10734143, PubMed:19609301, PubMed:20649465, PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892). Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides (PubMed:10734143, PubMed:19609301, PubMed:20649465). This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity (PubMed:10734143, PubMed:19609301, PubMed:20649465). The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex (PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892). The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs (PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892). The orientation of XPC complex binding appears to be crucial for inducing a productive NER (PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892). XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5'…
messages: Nucleus
messages: Sumoylated; sumoylation promotes ubiquitination by RNF111.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated upon UV irradiation; the ubiquitination requires the UV-DDB complex, appears to be reversible and does not serve as a signal for degradation (PubMed:15882621, PubMed:23751493). Ubiquitinated by RNF11 via 'Lys-63'-linked ubiquitination (PubMed:23751493). Ubiquitination by RNF111 is polysumoylation-dependent and promotes nucleotide excision repair (PubMed:23751493).

9606:MCRS1
gene id: 9606:MCRS1
uniprot id: Q96EZ8
names: Developmental Stage
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Herpes simplex virus ICP22.
messages: Cell-cycle regulated: levels are highest early in S phase; not detectable in G2.
messages: Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the N-terminus of INO80 (PubMed:16230350, PubMed:18922472, PubMed:21303910). Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10 (PubMed:15960975). Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1 (PubMed:20018852). Interacts with NOP2 (PubMed:9654073). Interacts with PINX1 (PubMed:15044100). Interacts with TERT (PubMed:15044100). Interacts with CCDC85B (PubMed:17014843). Interacts with DAXX (PubMed:11948183). Interacts (via N-terminus) with FMR1 (via phosphorylated form) (PubMed:16571602). Interacts with FXR1 and FXR2 (PubMed:16571602).
messages: Cytoplasm
messages: Detected in testis, and at lower levels in spleen, thymus, prostate, uterus, small intestine, colon and leukocytes.
messages: May be due to intron retention.
messages: Modulates the transcription repressor activity of DAXX by recruiting it to the nucleolus (PubMed:11948183). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. May also be an inhibitor of TERT telomerase activity (PubMed:15044100). Binds to G-quadruplex structures in mRNA (PubMed:16571602). Binds to RNA homomer poly(G) and poly(U) (PubMed:16571602).
messages: Nucleus
messages: nucleolus

9606:BRWD3
gene id: 9606:BRWD3
uniprot id: Q6RI45
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Function
names: Tissue Specificity
messages: A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes.
messages: Expressed in fetal liver.
messages: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.
messages: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The translocation involving this gene was originally published as t(X;11)(q13;23), but BRWD3 is localized to Xq21 and not to Xq13.

9606:TRHDE
gene id: 9606:TRHDE
uniprot id: Q9UKU6
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase M1 family.
messages: Binds 1 zinc ion per subunit.
messages: Homodimer; disulfide-linked.
messages: Membrane
messages: Predominantly expressed in brain.
messages: Specific inactivation of TRH after its release.

9606:TADA3
gene id: 9606:TADA3
uniprot id: A0A024R2D7
uniprot id: A8K899
uniprot id: O75528
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NGG1 family.
messages: Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. Also known as a coactivator for p53/TP53-dependent transcriptional activation. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.
messages: Nucleus
messages: The PCAF complex is composed of a number of TBP-associated factors (TAFS), such as TAF5, TAF5L, TAF6, TAF6L, TAF9, TAF10 and TAF12, PCAF, and also PCAF-associated factors (PAFs), such as TADA2L/ADA2, TADA3L/ADA3 and SPT3. Interacts directly with TADA2L and PCAF and also with the high-risk HPV oncoprotein E6. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. Component of the TFTC-HAT complex. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1.
messages: Ubiquitously expressed.

9606:DYNC2H1
gene id: 9606:DYNC2H1
uniprot id: Q8NCM8
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the dynein heavy chain family.
messages: Cell membrane
messages: Cytoplasm
messages: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).
messages: The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.
messages: The disease is caused by variants affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).
messages: cilium axoneme

9606:EIF4EBP1
gene id: 9606:EIF4EBP1
uniprot id: Q13541
names: Domain
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Belongs to the eIF4E-binding protein family.
messages: Hypophosphorylated EIF4EBP1 competes with EIF4G1/EIF4G3 to interact with EIF4E; insulin stimulated MAP-kinase (MAPK1 and MAPK3) or mTORC1 phosphorylation of EIF4EBP1 causes dissociation of the complex allowing EIF4G1/EIF4G3 to bind and consequent initiation of translation (PubMed:12150926, PubMed:16271312, PubMed:17368478, PubMed:17631896, PubMed:22578813, PubMed:7935836, PubMed:8521827, PubMed:25702871). Interacts (via TOS motif) with RPTOR; promoting phosphorylation by mTORC1 (PubMed:12747827).
messages: Phosphorylated on serine and threonine residues in response to insulin, EGF and PDGF. Phosphorylation at Thr-37, Thr-46, Ser-65 and Thr-70, corresponding to the hyperphosphorylated form, is regulated by mTORC1 and abolishes binding to EIF4E.
messages: Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways.
messages: The TOS motif mediates interaction with RPTOR, leading to promote phosphorylation by mTORC1 complex.
messages: Ubiquitinated: when eIF4E levels are low, hypophosphorylated form is ubiquitinated by the BCR(KLHL25) complex, leading to its degradation and serving as a homeostatic mechanism to maintain translation and prevent eIF4E inhibition when eIF4E levels are low. Not ubiquitinated when hyperphosphorylated (at Thr-37, Thr-46, Ser-65 and Thr-70) or associated with eIF4E.

9606:PLAAT2
gene id: 9606:PLAAT2
uniprot id: Q9NWW9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the H-rev107 family.
messages: Cytoplasm
messages: Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19615464, PubMed:22825852, PubMed:22605381, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19615464, PubMed:22825852, PubMed:22605381). For most substrates, PLA1 activity is much higher than PLA2 activity (PubMed:19615464). Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (PubMed:19615464). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylethanolamines (NAEs) (PubMed:19615464, PubMed:22825852, PubMed:22605381). Catalyzes N-acylation of PE using both sn-1 and sn-2 palmitoyl groups of PC as acyl donor (PubMed:22605381). Exhibits high phospholipase A1/2 activity and low N-acyltransferase activity (PubMed:22825852).
messages: Expressed in liver, kidney, small intestine testis and colon (PubMed:19615464). Undetectable in testis, placenta, salivary gland and fetal brain (PubMed:18163183).
messages: Membrane

9606:VGLL4
gene id: 9606:VGLL4
uniprot id: A0A075B6E4
uniprot id: A0A0A6YYI5
uniprot id: G5E9M7
uniprot id: G5E9M9
uniprot id: Q14135
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the vestigial family.
messages: Interacts with TEFs (By similarity). Interacts with IRF2BP2.
messages: May act as a specific coactivator for the mammalian TEFs.
messages: Nucleus
messages: Probable target of nonsense-mediated mRNA decay.

9606:IL27
gene id: 9606:IL27
uniprot id: Q8NEV9
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with EBI3 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon-gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR which appears to be required but not sufficient for IL-27-mediated signal transduction. IL-27 potentiate the early phase of TH1 response and suppress TH2 and TH17 differentiation. It induces the differentiation of TH1 cells via two distinct pathways, p38 MAPK/TBX21- and ICAM1/ITGAL/ERK-dependent pathways. It also induces STAT1, STAT3, STAT4 and STAT5 phosphorylation and activates TBX21/T-Bet via STAT1 with resulting IL12RB2 up-regulation, an event crucial to TH1 cell commitment. It suppresses the expression of GATA3, the inhibitor TH1 cells development. In CD8 T-cells, it activates STATs as well as GZMB. IL-27 reveals to be a potent inhibitor of TH17 cell development and of IL-17 production. Indeed IL27 alone is also able to inhibit the production of IL17 by CD4 and CD8 T-cells. While IL-27 suppressed the development of pro-inflammatory Th17 cells via STAT1, it inhibits the development of anti-inflammatory inducible regulatory T-cells, iTreg, independently of STAT1. IL-27 has also an effect on cytokine production, it suppresses pro-inflammatory cytokine production such as IL2, IL4, IL5 and IL6 and activates suppressors of cytokine signaling such as SOCS1 and SOCS3. Apart from suppression of cytokine production, IL-27 also…
messages: Belongs to the IL-6 superfamily.
messages: Expressed in monocytes and in placenta.
messages: Heterodimer with EBI3; not disulfide-linked. This heterodimer is known as interleukin IL-27.
messages: O-glycosylated.
messages: Secreted
messages: Transiently induced by bacterial lipopolysaccharides (LPS) stimulation in monocytes.

9606:ATP6V0B
gene id: 9606:ATP6V0B
uniprot id: E9PNL3
uniprot id: Q99437
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the V-ATPase proteolipid subunit family.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Proton-conducting pore forming of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity).
messages: Proton-conducting pore forming of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment.
messages: Ubiquitous.
messages: V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (PubMed:33065002). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (PubMed:33065002). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (PubMed:33065002). Interacts with IFITM3 (By similarity).
messages: V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex. The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H. The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits.
messages: clathrin-coated vesicle membrane

9606:PI4K2A
gene id: 9606:PI4K2A
uniprot id: Q9BTU6
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with the BLOC-1 and the AP-3 complexes; the BLOC-1 complex is required for optimal binding of PI4K2A to the AP-3 complex. Interacts with BLOC1S5 and DTNBP1 (PubMed:21998198). Interacts with FOS; this interaction may enhance phosphatidylinositol phosphorylation activity (By similarity). Interacts with ITCH (PubMed:23146885). Interacts with ATG9A (PubMed:30917996).
messages: Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily.
messages: Cell membrane
messages: Cytoplasmic vesicle
messages: Endosome
messages: Membrane
messages: Membrane raft
messages: Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3).
messages: Mitochondrion
messages: Palmitoylated by ZDHHC3 and ZDHHC7 in the CCPCC motif. Palmitoylation is cholesterol-dependent, and required for TGN localization.
messages: Perikaryon
messages: Presynaptic cell membrane
messages: Ubiquitinated by ITCH; this does not lead to proteasomal degradation.
messages: Widely expressed. Highest expression is observed in kidney, brain, heart, skeletal muscle, and placenta and lowest expression is observed in colon, thymus, and small intestine.
messages: dendrite
messages: neuron projection
messages: synaptosome
messages: trans-Golgi network membrane

9606:PASK
gene id: 9606:PASK
uniprot id: Q96RG2
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Autophosphorylated on Thr-1161 and Thr-1165. Autophosphorylation is activated by phospholipids.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
messages: Cytoplasm
messages: Nucleus
messages: Protein kinase activity is inhibited by the first PAS domain: binding of an unidentified ligand desinhibits the protein kinase activity. May be activated by autophosphorylation on Thr-1161 and Thr-1165 (PubMed:11459942). The activating role of autophosphorylation at Thr-1161 is unclear: according to a report, autophosphorylation at Thr-1161 does not play a major role in activation (PubMed:20943661). Autophosphorylation is enhanced upon phosphatidylinositol monophosphate (phosphatidylinositol 4-phosphate) binding and inhibited upon phosphatidylinositol bi- and tri-phosphate binding. In contrast, phosphorylation of target proteins is inhibited upon all phosphatidylinositol-binding (phosphatidylinositol mono- bi- and tri-phosphate).
messages: Serine/threonine-protein kinase involved in energy homeostasis and protein translation. Phosphorylates EEF1A1, GYS1, PDX1 and RPS6. Probably plays a role under changing environmental conditions (oxygen, glucose, nutrition), rather than under standard conditions. Acts as a sensor involved in energy homeostasis: regulates glycogen synthase synthesis by mediating phosphorylation of GYS1, leading to GYS1 inactivation. May be involved in glucose-stimulated insulin production in pancreas and regulation of glucagon secretion by glucose in alpha cells; however such data require additional evidences. May play a role in regulation of protein translation by phosphorylating EEF1A1, leading to increase translation efficiency. May also participate in respiratory regulation.
messages: The protein kinase domain mediates binding to phosphatidylinositol.
messages: Ubiquitously expressed, with slightly higher expression in brain, prostate and testis. Reduced expression was found in placenta. Present in germ cells of testis and in the midpiece of sperm tails (at protein level).

9606:HROB
gene id: 9606:HROB
uniprot id: Q8N3J3
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Chromosome
messages: DNA-binding protein involved in homologous recombination that acts by recruiting the MCM8-MCM9 helicase complex to sites of DNA damage to promote DNA repair synthesis.
messages: Interacts with MCM8; this interaction is necessary for MCM8-MCM9 helicase complex recruitment to DNA damage sites (PubMed:31467087). Interacts with RPA1; this interaction associates HROB with the RPA complex (By similarity).
messages: Nucleus

9606:PIP4P1
gene id: 9606:PIP4P1
uniprot id: Q86T03
names: Function
names: Induction
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By sterol depletion.
messages: Catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P) (PubMed:16365287). Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (PubMed:16365287). Regulates lysosomal positioning by recruiting JIP4 to lysosomal membranes, thus inducing retrograde transport of lysosomes along microtubules (PubMed:29146937). Contributes to assembly of the V-ATPase complex in lipid rafts of the lysosomal membrane and to subsequent amino acid-dependent activation of mTORC1 (PubMed:29644770). May play a role in the regulation of cellular cholesterol metabolism (PubMed:25035345).
messages: Cell membrane
messages: Interacts (via transmembrane domain) with ATP6V0D1 (PubMed:29644770). Interacts with LAMTOR1 (PubMed:29644770). Interacts with RRAGA and RRAGC (By similarity).
messages: Late endosome membrane
messages: Lysosome membrane
messages: May be due to intron retention.
messages: Ubiquitous.
messages: phagosome membrane

9606:PDAP1
gene id: 9606:PDAP1
uniprot id: Q13442
names: Function
names: Similarity
messages: Belongs to the PDAP1 family.
messages: Enhances PDGFA-stimulated cell growth in fibroblasts, but inhibits the mitogenic effect of PDGFB.

9606:KRT78
gene id: 9606:KRT78
uniprot id: Q8N1N4
names: Miscellaneous
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the intermediate filament family.
messages: Heterotetramer of two type I and two type II keratins.
messages: In non-keratinising esophageal and vaginal epithelium, strongly expressed in the basal and parabasal/lower suprabasal cell layers with considerably decreased expression in the mid/upper suprabasal layers (at protein level) (PubMed:26340985). A similar gradient from basal to lower suprabasal layers is seen in the partially keratinised dorsal tongue epithelium, in the scalp and in the plantar epidermis (at protein level) (PubMed:26340985). Extension of expression into the suprabasal compartments is distinctly more pronounced in non-keratinising epithelia than in keratinising epithelia and epidermis (at protein level) (PubMed:26340985). In scalp sections, present in the interfollicular epidermis and infundibulum including the entire outer root sheath of the hair follicles and also in the sebocytes (at protein level) (PubMed:26340985). In sweat glands, expressed in peripheral and luminal cells of the lower duct and in peripheral cells of the middle/upper duct with no expression observed in luminal cells (at protein level) (PubMed:26340985). In embryos at the 14th week of pregnancy, detected in basal and parabasal layers but is absent from the uppermost epidermal layer (at protein level) (PubMed:26340985). Expressed in tongue epithelium (PubMed:15737194).
messages: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

9606:ARHGEF7
gene id: 9606:ARHGEF7
uniprot id: A0A024RDY9
uniprot id: B7Z6G2
uniprot id: Q14155
uniprot id: Q5W9H1
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons.
messages: Interacts with PAK kinases through the SH3 domain. Interacts with GIT1 and TGFB1I1. Interacts with PTK2/FAK1 and RAC1. Interacts with ITCH and PARVB (By similarity). Interacts with unphosphorylated PAK1. Interacts with SCRIB; interaction is direct and may play a role in regulation of apoptosis. Interacts with FRMPD4 (via N-terminus). Interacts with CaMK1. Interacts with BIN2. Isoform 1 and isoform 5 interact with SNX27. Interacts with YWHAZ (By similarity).
messages: Phosphorylated by PTK2/FAK1; this promotes interaction with RAC1 (By similarity). Phosphorylated on Ser-694 by CaMK1; enhancement of GEF activity and downstream activation of RAC1.
messages: cell cortex
messages: focal adhesion
messages: lamellipodium
messages: ruffle

9606:RPP25
gene id: 9606:RPP25
uniprot id: Q9BUL9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the histone-like Alba family.
messages: Component of nuclear RNase P and RNase MRP ribonucleoproteins (PubMed:12003489, PubMed:15096576, PubMed:16723659, PubMed:20215441, PubMed:28115465, PubMed:30454648). RNase P consists of a catalytic RNA moiety and 10 different protein chains; POP1, POP4, POP5, POP7, RPP14, RPP21, RPP25, RPP30, RPP38 and RPP40 (PubMed:12003489, PubMed:16723659, PubMed:20215441, PubMed:30454648). Within the RNase P complex, POP1, POP7 and RPP25 form the 'finger' subcomplex, POP5, RPP14, RPP40 and homodimeric RPP30 form the 'palm' subcomplex, and RPP21, POP4 and RPP38 form the 'wrist' subcomplex. All subunits of the RNase P complex interact with the catalytic RNA (PubMed:30454648). Several subunits of RNase P are also part of the RNase MRP complex. RNase MRP consists of a catalytic RNA moiety and about 8 protein subunits; POP1, POP7, RPP25, RPP30, RPP38, RPP40 and possibly also POP4 and POP5 (PubMed:15096576, PubMed:16723659, PubMed:28115465). POP7 forms a heterodimer with RPP25 that binds to the P3 stem loop of the catalytic RNA (PubMed:20215441, PubMed:29625199).
messages: Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:12003489, PubMed:16723659, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465).
messages: nucleolus

9606:REXO4
gene id: 9606:REXO4
uniprot id: B4DJ95
uniprot id: B4E331
uniprot id: Q9GZR2
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the REXO4 family.
messages: Can bind ESR1 and ESR2. This interaction is abrogated by estrogen and augmented by tamoxifen treatment.
messages: nucleolus

9606:CRIP2
gene id: 9606:CRIP2
uniprot id: P52943
names: Subunit
names: Tissue Specificity
messages: Interacts with TGFB1I1.
messages: Widespread tissue expression; highest levels in the heart.

9606:DNAJA3
gene id: 9606:DNAJA3
uniprot id: Q96EY1
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with JAK2, HSPA9B and IFN-gammaR2 chain. Interacts with Ras GTPase-activating protein 1 (RASA1). Isoform 2 interacts with MUSK (via the cytoplasmic domain) (By similarity).
messages: Mitochondrion matrix
messages: Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma-mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway.
messages: Modulation of apoptosis, i.e. proapoptotic activity of isoform 1 and antiapoptotic activity of isoform 2, is J domain-dependent.
messages: Postsynaptic cell membrane
messages: Tyrosine phosphorylated.
messages: Widely expressed with highest levels in heart, liver, lung and skeletal muscles. Also expressed in keratinocytes.
messages: cytosol

9606:PSMD8
gene id: 9606:PSMD8
uniprot id: P48556
uniprot id: V9HW09
names: Caution
names: Function
names: Similarity
names: Subunit
messages: Belongs to the proteasome subunit S14 family.
messages: Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits including PSMD8, a base containing 6 ATPases and few additional components. Interacts with DDI2 (PubMed:29290612). Interacts with TASOR (By similarity).
messages: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.
messages: It is uncertain whether Met-1 or Met-64 is the initiator.

9606:CDA
gene id: 9606:CDA
uniprot id: P32320
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the cytidine and deoxycytidylate deaminase family.
messages: Highly expressed in granulocytes while expression is very low in fibroblasts, chondrocytes, monocytes, and T- as well as B-cell lines.
messages: Homotetramer.
messages: This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis.

9606:NOTUM
gene id: 9606:NOTUM
uniprot id: Q6P988
names: Caution
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the pectinacetylesterase family. Notum subfamily.
messages: Carboxylesterase that acts as a key negative regulator of the Wnt signaling pathway by specifically mediating depalmitoleoylation of WNT proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors (PubMed:25731175).
messages: Rarely expressed in adult normal tissues.
messages: Secreted
messages: The molecular function of NOTUM has remained unclear for many years. It was initially thought to hydrolyze glycosaminoglycan (GAG) chains of glypicans, thereby affecting glypicans ability to interact with Wnt ligands. It was later reported to trigger glypican shedding, by mediating cleavage of their GPI-anchor. However, while NOTUM specifically inhibit the Wnt signaling pathway, more pleiotropic effects would be expected from an enzyme affecting glypicans. It was finally shown that it requires glypicans to suppress Wnt signaling, but does not cleave their GPI-anchor. It acts by mediating depalmitoleoylation of WNT proteins, impairing WNT binding to frizzled receptors (PubMed:25731175).
messages: Up-regulated in hepatocellular carcinoma (HCC) with high intracellular beta-catenin.

9606:TMEM214
gene id: 9606:TMEM214
uniprot id: Q6NUQ4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TMEM214 family.
messages: Constitutively interacts with CASP4; required for the localization of procaspase 4 to the ER.
messages: Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress.
messages: Endoplasmic reticulum membrane

9606:GGT6
gene id: 9606:GGT6
uniprot id: B4DKN3
uniprot id: J3KPJ0
uniprot id: Q6P531
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the gamma-glutamyltransferase family.
messages: Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.
messages: Heterodimer composed of the light and heavy chains. The active site is located in the light chain.
messages: Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors.
messages: Membrane

9606:SNF8
gene id: 9606:SNF8
uniprot id: Q96H20
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SNF8 family.
messages: Component of the endosomal sorting complex required for transport II (ESCRT-II), composed of SNF8, VPS25 and VPS36. SNF8 is essential for the stability of the ESCRT-II complex. ESCRT-II interacts with ELL. Interacts with TSG101 (via the C-terminal domain). Interacts with RILPL1 (via the N-terminal domain); which recruits ESCRT-II to the endosome membranes. Interacts with 14-3-3 proteins.
messages: Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
messages: Cytoplasm
messages: Endosome membrane
messages: Late endosome membrane
messages: Nucleus

9606:OVOL3
gene id: 9606:OVOL3
uniprot id: A0A0J9YVN9
names: Subcellular Location Annotation
messages: Nucleus

9606:ELL3
gene id: 9606:ELL3
uniprot id: Q9HB65
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ELL/occludin family.
messages: Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of the super elongation complex (SEC), for transcriptional activation during differentiation. Required for recruitment of P-TEFb within SEC during differentiation. Probably preloaded on germ cell chromatin, suggesting that it may prime gene activation by marking enhancers as early as in the germ cells. Promoting epithelial-mesenchymal transition (EMT) (By similarity). Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968).
messages: Interacts with AFF4 (By similarity). Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2.
messages: Nucleus
messages: Testis specific.

9606:SLC30A7
gene id: 9606:SLC30A7
uniprot id: Q8NEW0
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
messages: Homooligomer.
messages: Increased intracellular zinc level, resulting from extracellular zinc supplementation, do not induce any up- or down-regulation of gene expression. Up-regulated by zinc depletion.
messages: Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity).
messages: trans-Golgi network membrane

9606:TSGA10
gene id: 9606:TSGA10
uniprot id: Q9BZW7
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CEP135/TSGA10 family.
messages: Cytoplasm
messages: Expressed in the testis, in spermatozoa (at protein level) (PubMed:11179690, PubMed:28905369). Expressed in actively dividing fetal tissues, including sternum, intestine, limb, kidney and stomach (PubMed:14585816).
messages: Interacts with HIF1A.
messages: Plays a role in spermatogenesis (PubMed:28905369). When overexpressed, prevents nuclear localization of HIF1A (By similarity).
messages: Processed into N-terminal 27-kDa and C-terminal 55-kDa fragments.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centriole

9606:LOXL2
gene id: 9606:LOXL2
uniprot id: Q9Y4K0
names: Activity Regulation
names: Caution
names: Cofactor
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: According to some reports, it is inhibited by beta-aminopropionitrile (BAPN) (PubMed:20439985 and PubMed:23319596). According to another report, it is not inhibited by beta-aminopropionitrile (BAPN) (PubMed:20306300). Specifically inhibited by a mouse monoclonal antibody AB0023, inhibition occurs in a non-competitive manner.
messages: Belongs to the lysyl oxidase family.
messages: Chromosome
messages: Component of some chromatin repressor complex. Interacts with SNAI1 (PubMed:16096638). Interacts with TAF10 (PubMed:25959397). Interacts with HSPA5 (PubMed:28332555). Interacts with EFEMP2 (PubMed:27339457).
messages: Contains 1 lysine tyrosylquinone.
messages: Endoplasmic reticulum
messages: Expressed in many tissues (PubMed:10212285). Highest expression in reproductive tissues, placenta, uterus and prostate (PubMed:10212285). In esophageal epithelium, expressed in the basal, prickle and granular cell layers (PubMed:22204712). Up-regulated in a number of cancers cells and tissues.
messages: Its overexpression in a number of cancers and its ability to promote epithelial to mesenchymal transition suggest that LOXL2 might play a role in tumor progression: expression is correlated with metastasis and decreased survival in patients with aggressive breast cancer (PubMed:21233336, PubMed:21732535). Allosteric inhibition by AB0023 inhibits formation of the tumor microenvironment and reduces metastatic tumor burden in xenograft models (PubMed:20818376, PubMed:21732535). However, inhibiting the enzyme activity of LOXL2 may not be sufficient, since inhibition of keratinocyte differentiation is not prevented in mutants that lack enzyme activity nor by inhibition of activity by the AB0023 antibody, thereby promoting development of squamous cell carcinomas (PubMed:22157764).
messages: Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine) (PubMed:27735137). Acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation (PubMed:27735137). Shows no activity against histone H3 when it is trimethylated on 'Lys-9' (H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated (H3K4me1) or dimethylated (H3K4me2) (PubMed:27735137). Also mediates deamination of methylated TAF10, a member of the transcription factor IID (TFIID) complex, which induces release of TAF10 from promoters, leading to inhibition of TFIID-dependent transcription (PubMed:25959397). LOXL2-mediated deamination of TAF10 results in transcriptional repression of genes required for embryonic stem cell pluripotency including POU5F1/OCT4, NANOG, KLF4 and SOX2 (By similarity). Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin CDH1, probably by mediating deamination of histone H3 (PubMed:16096638, PubMed:27735137, PubMed:24414204). During EMT, involved with SNAI1 in negatively regulating pericentromeric heterochromatin transcription (PubMed:24239292). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (PubMed:24239292). Interacts with the endoplasmic reticulum protein HSPA5 which activates the IRE1-XBP1 pathway of the unfolded protein response, leading to expression of several transcription factors involved in EMT and subsequent EMT induction (PubMed:28332555). Involved in E-cadherin repression following hypoxia, a hallmark of EMT believed to amplify tumor aggressiveness, suggesting that it may play a role in tumor progression …
messages: N-glycosylated. N-glycosylation on Asn-455 and Asn-644 may be essential for proper folding and secretion; may be composed of a fucosylated carbohydrates attached to a trimannose N-linked glycan core.
messages: Nucleus
messages: Strongly induced in hypoxia. Direct transcriptional target of HIF1A.
messages: The fourth SRCR domain plays an important role in optimizing the catalytic activity of the lysyl-oxidase like (LOX) catalytic domain.
messages: The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine.
messages: The original paper reporting the role of LOXL2 in deamination of trimethylated 'Lys-4' of histone H3 was retracted due to inappropriate manipulation of figure data (PubMed:22483618, PubMed:27392148). However, this role was confirmed in a subsequent publication (PubMed:27735137).
messages: basement membrane

9606:RAB36
gene id: 9606:RAB36
uniprot id: O95755
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Golgi apparatus membrane
messages: Protein transport. Probably involved in vesicular traffic (By similarity).
messages: Ubiquitously present in all tissues examined.

9606:MAP3K21
gene id: 9606:MAP3K21
uniprot id: Q5TCX8
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Autophosphorylation on serine and threonine residues within the activation loop plays a role in enzyme activation.
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
messages: Homodimer (By similarity). Interacts with TLR4.
messages: Homodimerization via the leucine zipper domains is required for autophosphorylation and subsequent activation.
messages: Negative regulator of TLR4 signaling. Does not activate JNK1/MAPK8 pathway, p38/MAPK14, nor ERK2/MAPK1 pathways.

9606:PRMT9
gene id: 9606:PRMT9
uniprot id: Q6P2P2
names: Caution
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative splicing of pre-mRNA (PubMed:25737013, PubMed:25979344).
messages: Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.
messages: Cytoplasm
messages: Found in a complex with PRMT9, SF3B2 and SF3B4 (PubMed:25737013). Interacts with SF3B2 (PubMed:25737013).
messages: Intron retention.
messages: This protein should not be confused with FBXO11 (AC Q86XK2) that was initially erroneously named PRMT9.

9606:TDRD5
gene id: 9606:TDRD5
uniprot id: A0A024R910
uniprot id: Q8NAT2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TDRD5 family.
messages: Cytoplasm
messages: Required during spermiogenesis to participate in the repression transposable elements and prevent their mobilization, which is essential for the germline integrity. Probably acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for chromatoid body (CB) assembly (By similarity).
messages: Required during spermiogenesis to participate in the repression transposable elements and prevent their mobilization, which is essential for the germline integrity. Probably acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for chromatoid body (CB) assembly.

9606:PRR7
gene id: 9606:PRR7
uniprot id: Q8TB68
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a synapse-to-nucleus messenger to promote NMDA receptor-mediated excitotoxicity in neurons in a JUN-dependent manner (By similarity). Inhibits ubiquitination-mediated degradation and promotes phosphorylation and transcriptional activity of transcription factor JUN (PubMed:27458189). Might play a redundant role in the regulation of T cell receptor signaling (PubMed:21460222). Might promote apoptosis in T cells (PubMed:21460222).
messages: Cell membrane
messages: Forms a complex with NMDA receptor zeta subunit GRIN1 and epsilon subunit GRIN2B (PubMed:27458189). Interacts with GRIN1 and GRIN2B (PubMed:27458189). The interaction with GRIN1 is reduced upon NMDA receptor activity (By similarity). Found in a postsynaptic membrane complex with DLG4 and GRIN1 (By similarity). Interacts with DLG4 (via PDZ3 domain and to lesser degree via PDZ2 domain) (By similarity). Found in a complex with JUN and FBXW7 (PubMed:27458189). Interacts with JUN and FBXW7; the interaction inhibits ubiquitination-mediated JUN degradation promoting its phosphorylation and transcriptional activity (PubMed:27458189). Interacts with SRC (PubMed:21460222).
messages: Nucleus
messages: Palmitoylated.
messages: Postsynaptic cell membrane
messages: Postsynaptic density membrane
messages: Strongly expressed in brain tissue including the hippocampus, and moderately expressed in esophagus, trachea, lung, ovary, cervix, prostate, testes, thyroid, thymus, lymph nodes and peripheral blood lymphocytes.
messages: Synapse
messages: Tyrosine phosphorylated, possibly by SRC.
messages: Up-regulated in peripheral blood leukocytes in response to T-cell receptor stimulation.
messages: dendrite
messages: perinuclear region

9606:ETFB
gene id: 9606:ETFB
uniprot id: P38117
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundant in liver, heart and skeletal muscle. A weak expression is seen in the brain, placenta, lung, kidney and pancreas.
messages: Belongs to the ETF beta-subunit/FixA family.
messages: Heterodimer composed of ETFA and ETFB (PubMed:25023281, PubMed:25416781, PubMed:8962055, PubMed:15159392, PubMed:15975918). Identified in a complex that contains ETFA, ETFB and ETFRF1 (PubMed:27499296). Interacts with ACADM (PubMed:15159392, PubMed:15975918).
messages: Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:25416781, PubMed:15159392, PubMed:15975918). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP molecule that probably has a purely structural role (PubMed:8962055, PubMed:15159392, PubMed:15975918).
messages: Methylated. Trimethylation at Lys-200 and Lys-203 may negatively regulate the activity in electron transfer from acyl-CoA dehydrogenases.
messages: Mitochondrion matrix
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The recognition loop recognizes a hydrophobic patch at the surface of interacting dehydrogenases and acts as a static anchor at the interface.

9606:DCAF7
gene id: 9606:DCAF7
uniprot id: P61962
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the WD repeat DCAF7 family.
messages: Cytoplasm
messages: Interacts with DYRK1A, DYRK1B and DIAPH1. Interacts with DDB1. Interacts with ZNF703. Interacts with human adenovirus 5 E1A protein (PubMed:23864635).
messages: Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
messages: Nucleus

9606:CRYBA2
gene id: 9606:CRYBA2
uniprot id: A0A024R429
uniprot id: P53672
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the beta/gamma-crystallin family.
messages: Crystallins are the dominant structural components of the vertebrate eye lens.
messages: Has a two-domain beta-structure, folded into four very similar Greek key motifs.
messages: Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZDHHC9
gene id: 9606:ZDHHC9
uniprot id: Q9Y397
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Through a sequential action with ZDHHC20, rapidly and efficiently palmitoylates SARS coronavirus-2/SARS-CoV-2 spike protein following its synthesis in the endoplasmic reticulum (ER). In the infected cell, promotes spike biogenesis by protecting it from premature ER degradation, increases half-life and controls the lipid organization of its immediate membrane environment. Once the virus has formed, spike palmitoylation controls fusion with the target cell.
messages: Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily.
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Highly expressed in kidney, skeletal muscle, brain, lung and liver. Absent in thymus, spleen and leukocytes.
messages: Interacts with GOLGA7.
messages: Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates (Probable). The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS (PubMed:16000296). May have a palmitoyltransferase activity toward the beta-2 adrenergic receptor/ADRB2 and therefore regulate G protein-coupled receptor signaling (PubMed:27481942).
messages: The DHHC domain is required for palmitoyltransferase activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NDUFAF1
gene id: 9606:NDUFAF1
uniprot id: A0A024R9L0
uniprot id: Q9Y375
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: As part of the MCIA complex, involved in the assembly of the mitochondrial complex I.
messages: Belongs to the CIA30 family.
messages: Mitochondrion
messages: Mitochondrion matrix
messages: Part of the mitochondrial complex I assembly/MCIA complex that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186 (PubMed:32320651). Interacts with ECSIT (PubMed:17344420). Interacts with ACAD9 (PubMed:20816094). At early stages of complex I assembly, it is found in intermediate subcomplexes that contain different subunits including NDUFB6, NDUFA6, NDUFA9, NDUFS3, NDUFS7, ND1, ND2 and ND3 (PubMed:17557076). Interacts with TMEM70 and TMEM242 (PubMed:33753518).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: There is a putative pseudogene of CIA30 on chromosome 19 (19p12).
messages: Ubiquitous.

9606:TMPRSS11F
gene id: 9606:TMPRSS11F
uniprot id: Q6ZWK6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the peptidase S1 family.
messages: Membrane
messages: Probable serine protease.

9606:SPRY4
gene id: 9606:SPRY4
uniprot id: Q9C004
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the sprouty family.
messages: Cytoplasm
messages: Interacts (via C-terminus) with TESK1 (via both C- and N-termini); the interaction inhibits TESK1 kinase activity (PubMed:12027893, PubMed:15584898). Interacts with RAF1 (PubMed:12717443). Interacts with CAV1 (via C-terminus) (By similarity).
messages: Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras (PubMed:12027893). Probably impairs the formation of GTP-Ras (PubMed:12027893). Inhibits Ras-independent, but not Ras-dependent, activation of RAF1 (PubMed:12717443). Represses integrin-mediated cell spreading via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:15584898).
messages: The Cys-rich domain is responsible for the localization of the protein to the membrane ruffles.
messages: The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in SPRY4 also have a heterozygous mutation in another HH-associated gene including DUSP6 and FGFR1 (PubMed:23643382).
messages: ruffle membrane

9606:GNL1
gene id: 9606:GNL1
uniprot id: P36915
names: Domain
names: Function
names: Similarity
messages: Belongs to the TRAFAC class YlqF/YawG GTPase family.
messages: In contrast to other GTP-binding proteins, this family is characterized by a circular permutation of the GTPase motifs described by a G4-G1-G3 pattern.
messages: Possible regulatory or functional link with the histocompatibility cluster.

9606:CNTROB
gene id: 9606:CNTROB
uniprot id: Q8N137
names: Developmental Stage
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with LYST.
messages: Preferentially incorporated into the newly assembled daughter centriole during centriole assembly at the late G1 or early S phase. Remains in the daughter centrioles throughout the cell cycle. At the next cycle of centriole duplication, its amount on the original daughter centriole eventually decreases.
messages: Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis.
messages: Widely expressed (at protein level). Highly expressed in testis. Also expressed in spleen, thymus, prostate, small intestine, colon and peripheral blood leukocytes.
messages: centriole

9606:HS6ST2
gene id: 9606:HS6ST2
uniprot id: Q96MM7
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.
messages: Belongs to the sulfotransferase 6 family.
messages: Membrane
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:SUPT3H
gene id: 9606:SUPT3H
uniprot id: A0A024RD67
uniprot id: B4E1H0
uniprot id: O75486
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SPT3 family.
messages: Chimeric cDNA.
messages: Component of the PCAF complex, at least composed of TADA2L/ADA2, SUPT3H, TADA3L/ADA3, TAF5L/PAF65-beta, TAF6L/PAF65-alpha, TAF10/TAFII30, TAF12/TAFII20, TAF9/TAFII31 and TRRAP. Associates with TAFII31 and GCN5L2. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, GCN5L2/GCN5, TAF10 and TRRAP. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22.
messages: Expressed in all tissues tested including pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.
messages: Nucleus
messages: Probable transcriptional activator.

9606:SETMAR
gene id: 9606:SETMAR
uniprot id: Q53H47
names: Cofactor
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds 1 Mg(2+) ion per subunit.
messages: Chromosome
messages: Homodimer (PubMed:20521842). Interacts with PRPF19; required for SETMAR recruitment to damaged DNA sites (PubMed:18263876). Interacts with PCNA (PubMed:20457750). Interacts with TOP2A; stimulates TOP2A topoisomerase activity (PubMed:18790802, PubMed:20457750). May interact with RAD9A and/or RAD9B (PubMed:20457750).
messages: In the C-terminal section; belongs to the mariner transposase family.
messages: In the N-terminal section; belongs to the class V-like SAM-binding methyltransferase superfamily.
messages: In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.
messages: Methylated. Methylation regulates activity in DNA decatenation.
messages: Nucleus
messages: Phosphorylated at Ser-508 by CHEK1 and dephosphorylated by protein phosphatase 2A/PP2A. Phosphorylation at Ser-508 is enhanced by DNA damage and promotes recruitment to damaged DNA. It stimulates DNA repair and impairs replication fork restart.
messages: Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates 'Lys-4' and 'Lys-36' of histone H3. Specifically mediates dimethylation of H3 'Lys-36' at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750).
messages: The mariner transposase Hsmar1 region mediates DNA-binding. It has retained some of the nucleases activity but has lost its transposase activity because the active site contains an Asn in position 610 instead of an Asp residue.
messages: The mariner transposase region in only present in primates and appeared 40-58 million years ago, after the insertion of a transposon downstream of a preexisting SET gene, followed by the de novo exonization of previously non-coding sequence and the creation of a new intron.
messages: Widely expressed, with highest expression in placenta and ovary and lowest expression in skeletal muscle.

9606:SPATA20
gene id: 9606:SPATA20
uniprot id: Q8TB22
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: May play a role in fertility regulation.
messages: Secreted

9606:GP6
gene id: 9606:GP6
uniprot id: Q9HCN6
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Staphylococcus aureus protein SSL5.
messages: Associated with Fc receptor gamma chain. The GPVI:FcRgamma complex is associated with the Src kinase family FYN and LYN (PubMed:10961879, PubMed:9295288). Interacts with TRAF4 (PubMed:20946164). Interacts with COL1A1, but not with COL4A4 (By similarity).
messages: Cell membrane
messages: Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src kinases (likely FYN or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2.
messages: Has no transmembrane domain. Does not interact with Fc receptor gamma chain. Does not bind to collagen-like peptides.
messages: Megakaryocytes and platelets.
messages: N-linked glycosylation at Asn-92 is not required for the cell surface expression, but contributes to maximal adhesion to type I collagen, collagen-related peptide (CRP), and, to a lesser extent, to the snake venom C-type lectin convulxin (CVX).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:UGT1A8
gene id: 9606:UGT1A8
uniprot id: Q5DSZ6
uniprot id: Q9HAW9
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the UDP-glycosyltransferase family.
messages: Endoplasmic reticulum membrane
messages: Expressed in kidney, colon and small intestine (PubMed:18004212). Not expressed in liver (PubMed:18004212).
messages: Expressed in liver, kidney, colon and small intestine.
messages: Homodimer (PubMed:17179145). Homooligomer (Probable). Interacts with UGT1A1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A9 and UGT1A10 to form heterodimers (PubMed:17179145). Isoform 1 interacts with isoform 2/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 2. Isoform 1 also interacts with respective i2 isoforms of UGT1A1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A9 and UGT1A10 (PubMed:20610558).
messages: Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1.
messages: Membrane
messages: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:15472229, PubMed:16595710, PubMed:18052087, PubMed:18004212, PubMed:18674515, PubMed:18719240, PubMed:19545173, PubMed:23288867). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:15472229, PubMed:16595710, PubMed:23288867). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens and estrogens (PubMed:15472229, PubMed:16595710, PubMed:18719240, PubMed:23288867). Produces dihydrotestosterone (DHT) diglucuronide from the DHT after two subsequent glucoronidation steps (PubMed:16595710). Also catalyzes the glucuronidation of the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087, PubMed:19545173). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist caderastan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Also metabolizes mycophenolate, an immunosuppressive agent (PubMed:15470161, PubMed:18004212).
messages: UGT1A8 isoform is part of the UGT1A complex locus which displays alternative use of promoters, first exons and terminal exons. The locus is defined by 13 first exons, which are alternatively spliced to 3 other common exons and 2 alternative terminal exons 5. From the 27 possible mRNA isoforms, 9 produce functionally active polypeptides (UGT1A1, 1A3, 1A4, 1A5, 1A6, 1A7, 1A8, 1A9 and 1A10) called isoforms 1 (i1). Use of an alternative exon 5 (5b) as terminal exon is leading to 9 additional alternatively spliced products termed isoforms i2 and which lack transferase activity.

9606:RBMXL1
gene id: 9606:RBMXL1
uniprot id: Q96E39
names: Caution
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
messages: According to some authors, RBMXL1 is a RBMX retrogene on chromosome X which is likely to be functional.
messages: Nucleus
messages: RNA-binding protein which may be involved in pre-mRNA splicing.
messages: The first non-coding exon of RBMXL1 is in common with that of CCBL2.

9606:SERPINB12
gene id: 9606:SERPINB12
uniprot id: Q96P63
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the serpin family. Ov-serpin subfamily.
messages: Cytoplasm
messages: Expressed in many tissues, including brain, bone marrow, lymph node, heart, lung, liver, pancreas, testis, ovary, and intestine.
messages: Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator (PubMed:11604408). May play a role in cell differentiation (PubMed:30045019).
messages: Interacts with SLFN12; as part of a pathway regulating cell differentiation (PubMed:30045019). May interact with USP14 (PubMed:30045019).

9606:STC1
gene id: 9606:STC1
uniprot id: P52823
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the stanniocalcin family.
messages: Expressed in most tissues, with the highest levels in ovary, prostate, heart, kidney and thyroid. In the kidney, expression is confined to the nephron, specifically in the distal convoluted tubule and in the collecting tubule. Not detected in the brain, liver, spleen, peripheral blood leukocytes and adrenal medulla.
messages: Homodimer; disulfide-linked.
messages: Secreted
messages: Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia.

9606:ATP7B
gene id: 9606:ATP7B
uniprot id: A0A024RDX3
uniprot id: A0A669KB88
uniprot id: B7ZLR3
uniprot id: B7ZLR4
uniprot id: E7ET55
uniprot id: P35670
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
messages: Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload.
messages: Cytoplasm
messages: Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule.
messages: Golgi apparatus membrane
messages: Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form.
messages: Late endosome
messages: May arise by a -1 programmed ribosomal frameshift at codon 233. A nucleotide 'slippery sequence' followed by an mRNA pseudoknot are found downstream of the frameshift site and direct frameshifting of a gene fragment with about 10% efficiency.
messages: Membrane
messages: Mitochondrion
messages: Monomer. Interacts with COMMD1/MURR1 (PubMed:12968035, PubMed:17919502). Interacts with DCTN4, in a copper-dependent manner (PubMed:16554302). Interacts with ATOX1 (PubMed:18558714, PubMed:17919502). Interacts (via C-terminus) with ZBTB16/PLZF (PubMed:16676348).
messages: Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: trans-Golgi network membrane

9606:NOP2
gene id: 9606:NOP2
uniprot id: P46087
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
messages: Citrullinated by PADI4.
messages: Expressed in G1 and peaks during the early S phase of the cell cycle.
messages: Interacts with MCRS1 (PubMed:9654073). Interacts with WDR46 (PubMed:23848194). Interacts with RRP1B (PubMed:20926688).
messages: Involved in ribosomal large subunit assembly (PubMed:24120868). S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 4447 in 28S rRNA (Probable). May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation (Probable).
messages: nucleolus

9606:RAG1
gene id: 9606:RAG1
uniprot id: P15918
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autoubiquitinated in the presence of CDC34/UBCH3.
messages: Belongs to the RAG1 family.
messages: Binds 1 divalent metal cation per subunit. Mg(2+) or Mn(2+).
messages: Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as an E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitinat…
messages: Homodimer. Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or HMGB2. Interacts with DCAF1, leading to recruitment of the CUL4A-RBX1-DDB1-DCAF1/VPRBP complex to ubiquitinate proteins and limit error-prone repair during V(D)J recombination (By similarity).
messages: Maturing lymphoid cells.
messages: Nucleus
messages: The NBD (nonamer binding) DNA-binding domain mediates the specific binding to the nonamer RSS motif by forming a tightly interwoven homodimer that binds and synapses 2 nonamer elements, with each NBD making contact with both DNA molecules. Each RSS is composed of well-conserved heptamer (consensus 5'-CACAGTG-3') and nonamer (consensus 5'-ACAAAAACC-3') sequences separated by a spacer of either 12 bp or 23 bp.
messages: The RING-type zinc finger mediates the E3 ubiquitin-protein ligase activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:HARBI1
gene id: 9606:HARBI1
uniprot id: Q96MB7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the HARBI1 family.
messages: Cytoplasm
messages: Detected in brain, eye, nerve tissue, kidney and lung.
messages: Interacts with NAIF1.
messages: Nucleus
messages: Transposase-derived protein that may have nuclease activity (Potential). Does not have transposase activity.

9606:GDF10
gene id: 9606:GDF10
uniprot id: P55107
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TGF-beta family.
messages: Expressed in femur, brain, lung, skeletal muscle, pancreas and testis.
messages: Growth factor involved in osteogenesis and adipogenesis. Plays an inhibitory role in the process of osteoblast differentiation via SMAD2/3 pathway. Plays an inhibitory role in the process of adipogenesis.
messages: Homodimer or heterodimer. Can form a non-covalent complex of the mature region and the pro-region.
messages: Secreted

9606:CSGALNACT1
gene id: 9606:CSGALNACT1
uniprot id: Q8TDX6
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
messages: Golgi stack membrane
messages: N-glycosylated.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758, PubMed:31705726). Moreover, is involved in the metabolism of aggrecan (By similarity).
messages: Ubiquitous, with the highest levels in placenta, thyroid, bladder, prostate and adrenal gland. Detected at low levels in the other tissues examined.

9606:NBPF12
gene id: 9606:NBPF12
uniprot id: Q5TAG4
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the NBPF family.
messages: Cytoplasm
messages: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.
messages: Widely expressed with highest levels in brain, ovary, mammary gland, skin and adipose tissue. Also expressed in testis. Detected in a number of tumors including osteosarcoma, mammary carcinoma and hepatocellular carcinoma.

9606:OCA2
gene id: 9606:OCA2
uniprot id: Q04671
names: Developmental Stage
names: Disease Annotation
names: Function
names: Induction
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CitM (TC 2.A.11) transporter family.
messages: Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:25513726, PubMed:11310796, PubMed:15262401, PubMed:22234890). One of the components of the mammalian pigmentary system (PubMed:15262401, PubMed:18252222, PubMed:7601462). May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color (PubMed:15262401, PubMed:18252222, PubMed:7601462). Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis (By similarity).
messages: Expressed at early stages of melanosome differentiation.
messages: Expressed in melanocytes and retinal pigment epithelium.
messages: Expression is under the control of an enhancer element that is encoded in an intron of the close-by HERC2 gene. The enhancer element containing the T-allele of the polymorphism rs12913832 mediates binding of the transcription factors HLTF, LEF1 and MITF and increases OCA2 expression. In contrast, transcription factor binding and OCA2 expression are reduced in carriers of the C-allele of polymorphism rs12913832. Thus, people homozygous for the C-allele have light-colored eyes, while people homozygous for the T-allele of polymorphism rs12913832 most often have brown eyes.
messages: Genetic variants in OCA2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1) [MIM:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3). Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. OCA2 polymorphisms may act as a penetrance modifier of the risk of malignant melanoma.
messages: Melanosome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CAPN12
gene id: 9606:CAPN12
uniprot id: Q6ZSI9
names: Function
names: Similarity
messages: Belongs to the peptidase C2 family.
messages: Calcium-regulated non-lysosomal thiol-protease.

9606:CD300A
gene id: 9606:CD300A
uniprot id: Q9UGN4
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CD300 family.
messages: Cell membrane
messages: Expressed not only by natural killer (NK) cells but also by T-cell subsets, B-cells, dendritic cells, mast cells, granulocytes and monocytes.
messages: Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation (PubMed:10746781, PubMed:16339535, PubMed:9701027). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6 (PubMed:22043923).
messages: N-glycosylated.
messages: Phosphorylated on tyrosine.
messages: Upon tyrosine-phosphorylation, interacts with PTN6/SHP-1 and PTPN11/SHP-2 and INPP5D.

9606:NPIPA7
gene id: 9606:NPIPA7
uniprot id: E9PJI5
uniprot id: P0DM63
names: Similarity
messages: Belongs to the NPIP family.

9606:TRIM4
gene id: 9606:TRIM4
uniprot id: Q9C037
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRIM/RBCC family.
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination of the innate immune receptor RIGI, this linkage doesn't lead to proteasomal degradation but seems to enhance IFN induction.
messages: Homotrimer.

9606:NCAPD2
gene id: 9606:NCAPD2
uniprot id: B3KMS0
uniprot id: B3KY03
uniprot id: Q15021
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CND1 (condensin subunit 1) family.
messages: Chromosome
messages: Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: NCAPH/BRRN1, NCAPD2/CAPD2 and NCAPG. Interacts with histones H1 and H3.
messages: Cytoplasm
messages: Nucleus
messages: Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPH and NCAPG subunits, activates the condensin complex and is required for chromosome condensation (By similarity).
messages: Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.
messages: Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. May target the condensin complex to DNA via its C-terminal domain (PubMed:11136719). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of non-centromeric ultrafine DNA bridges during anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959).
messages: The C-terminal domain interacts with histones H1 and H3, and may be responsible for condensin complex targeting to mitotic chromosomes. This domain is independent from the bipartite nuclear localization signal, although they are contained within the same region.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MED19
gene id: 9606:MED19
uniprot id: A0JLT2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Mediator complex subunit 19 family.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
messages: Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP.
messages: Nucleus

9606:SDHAF2
gene id: 9606:SDHAF2
uniprot id: Q9NX18
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SDHAF2 family.
messages: Interacts with SDHA within the SDH catalytic dimer.
messages: Mitochondrion matrix
messages: Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:FGFR2
gene id: 9606:FGFR2
uniprot id: A0A141AXF1
uniprot id: D2CGD1
uniprot id: P21802
uniprot id: S4R381
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on several tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer. Phosphorylation at Tyr-769 is essential for interaction with PLCG1.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
messages: Cell membrane
messages: Contaminating sequence. Somatic variant that appeared in a cancer cell line as a result of genome instability.
messages: Cytoplasmic vesicle
messages: Golgi apparatus
messages: Membrane
messages: Monomer. Homodimer after ligand binding. Interacts predominantly with FGF1 and FGF2, but can also interact with FGF3, FGF4, FGF6, FGF7, FGF8, FGF9, FGF10, FGF17, FGF18 and FGF22 (in vitro). Ligand specificity is determined by tissue-specific expression of isoforms, and differences in the third Ig-like domain are crucial for ligand specificity. Isoform 1 has high affinity for FGF1 and FGF2, but low affinity for FGF7. Isoform 3 has high affinity for FGF1 and FGF7, and has much higher affinity for FGF7 than isoform 1 (in vitro). Affinity for fibroblast growth factors (FGFs) is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Likewise, KLB increases the affinity for FGF19 and FGF21. Interacts with PLCG1, GRB2 and PAK4. Interacts with FLRT2 (By similarity).
messages: N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.
messages: Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by ARQ 523 and ARQ 069; these compounds maintain the kinase in an inactive conformation and inhibit autophosphorylation.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans. Alternative splicing events affecting the third Ig-like domain are crucial for ligand selectivity.
messages: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1.
messages: Ubiquitinated. FGFR2 is rapidly ubiquitinated after autophosphorylation, leading to internalization and degradation. Subject to degradation both in lysosomes and by the proteasome.

9606:SVOP
gene id: 9606:SVOP
uniprot id: Q8N4V2
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the major facilitator superfamily.
messages: synaptic vesicle membrane

9606:SNX20
gene id: 9606:SNX20
uniprot id: Q7Z614
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the sorting nexin family.
messages: Cell membrane
messages: Cytoplasm
messages: Early endosome membrane
messages: Interacts with SELPLG (PubMed:18196517). Interaction with SELPLG is controversial.
messages: May play a role in cellular vesicle trafficking. Has been proposed to function as a sorting protein that targets SELPLG into endosomes, but has no effect on SELPLG internalization from the cell surface, or on SELPLG-mediated cell-cell adhesion.
messages: Nucleus
messages: The PX domain binds phosphatidylinositol 3-phosphate which is necessary for localization to the endosomes.

9606:INAFM2
gene id: 9606:INAFM2
uniprot id: P0DMQ5
names: Developmental Stage
names: Subcellular Location Annotation
messages: Membrane
messages: Up-regulated during osteogenesis.

9606:KLKB1
gene id: 9606:KLKB1
uniprot id: P03952
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
messages: Forms a heterodimer with SERPINA5. The zymogen is activated by factor XIIa, which cleaves the molecule into a light chain, which contains the active site, and a heavy chain, which associates with HMW kininogen. These chains are linked by one or more disulfide bonds.
messages: Inhibited by SERPINA5.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin.

9606:GUSB
gene id: 9606:GUSB
uniprot id: P08236
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glycosyl hydrolase 2 family.
messages: Homotetramer.
messages: Inhibited by L-aspartic acid.
messages: Lysosome
messages: N-linked glycosylated with 3 to 4 oligosaccharide chains.
messages: Plays an important role in the degradation of dermatan and keratan sulfates.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SPDYE17
gene id: 9606:SPDYE17
uniprot id: P0DUD2
names: Caution
names: Similarity
messages: Belongs to the Speedy/Ringo family.
messages: Could be the product of a pseudogene.

9606:PTCH2
gene id: 9606:PTCH2
uniprot id: Q9Y6C5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the patched family.
messages: Membrane
messages: Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:PTX4
gene id: 9606:PTX4
uniprot id: Q96A99
names: Cofactor
names: Induction
names: Miscellaneous
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Binds 2 calcium ions per subunit.
messages: Not expressed in small intestine.
messages: Not induced by bacterial lipopolysaccharideS (LPS) or IL1/interleukin-1 in endothelium, monocytes or neutrophils. Not induced by PHA in lymphocytes.
messages: Secreted
messages: Widely expressed at low levels with highest levels in small intestine, testis and brain. Very low expression in endothelial cells, monocytes, neutrophils and lymphocytes. Isoform 1 is not expressed in small intestine.

9606:SEC24A
gene id: 9606:SEC24A
uniprot id: B4E205
uniprot id: O95486
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SEC23/SEC24 family. SEC24 subfamily.
messages: COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (PubMed:17499046). Interacts with TMED2 (PubMed:20427317). Interacts (as part of the Sec23/24 complex) with SEC22B; recruits SEC22B into COPII-coated vesicles for its transport from the endoplasmic reticulum to the Golgi (PubMed:17499046). Interacts with STING1; promoting STING1 translocation to COPII vesicles in a STEEP1-dependent manner (PubMed:32690950). Interacts with TMEM39A (PubMed:31806350). Interacts with SACM1L; this interaction is reduced in the absence of TMEM39A (PubMed:31806350). Interacts with kinase FAM20C; transport of FAM20C from the endoplasmic reticulum to the Golgi is likely to be mediated by COPII vesicles (PubMed:34349020).
messages: COPII-coated vesicle membrane
messages: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:20427317, PubMed:17499046, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24B may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296).
messages: Endoplasmic reticulum membrane
messages: Membrane
messages: cytosol

9606:KIAA0513
gene id: 9606:KIAA0513
uniprot id: O60268
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the dorsolateral prefrontal cortex of schizophrenic patients compared to control individuals.

9606:CLEC4D
gene id: 9606:CLEC4D
uniprot id: Q8WXI8
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By autocrine inflammatory stimuli.
messages: Calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system: recognizes damage-associated molecular patterns (DAMPs) of pathogen-associated molecular patterns (PAMPs) of bacteria and fungi (PubMed:23602766, PubMed:23911656). The PAMPs include alpha-mannans on C.albicans hypheas and mycobacterial trehalose 6,6'-dimycolate (TDM) (PubMed:23602766, PubMed:23911656). Interacts with signaling adapter Fc receptor gamma chain/FCER1G, likely via CLEC4E, to form a functional complex in myeloid cells (By similarity). Binding of mycobacterial TDM or C.albicans alpha-mannans to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes (PubMed:23602766, PubMed:23911656). The heterodimer formed with CLEC6A is active against fungal infection (PubMed:23911656). Functions as an endocytic receptor (PubMed:14971047). May be involved in antigen uptake at the site of infection, either for clearance of the antigen, or for processing and further presentation to T-cells (PubMed:14971047).
messages: Cell membrane
messages: Expressed weakly in peripheral blood leukocytes, bone marrow and spleen. Expression is confined mostly in monocytes and macrophage and seems to be up-regulated by IL-6, IL-10, TNF-alpha and IFN-gamma.
messages: Heterodimer with CLEC4E; disulfide-linked (By similarity). CLEC4E acts as a bridge for interaction between CLEC4D and FCER1G to form a functional complex (By similarity). Heterodimer with CLEC6A; this heterodimer forms a pattern recognition receptor (PRR) against fungal infection (PubMed:23911656).

9606:IQCG
gene id: 9606:IQCG
uniprot id: Q9H095
uniprot id: Q9H5C8
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DRC9 family.
messages: Component of the nexin-dynein regulatory complex (N-DRC) (By similarity). Interacts (via IQ domain) with CALM when calcium levels are low. Does not interact with CALM in the presence of Ca(2+). Interacts with the HSP70 proteins HSPA1L and HSPA8 (PubMed:24787902). May form a complex with CAMK4 and HSP70 (By similarity).
messages: Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin-dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades. Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility.
messages: Cytoplasm
messages: The IQ domain mediates interaction with calmodulin when cellular Ca(2+) levels are low.
messages: cilium
messages: cytoskeleton
messages: flagellum
messages: flagellum axoneme

9606:PLBD2
gene id: 9606:PLBD2
uniprot id: Q8NHP8
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the phospholipase B-like family.
messages: Glycosylated; contains mannose 6-phosphate sugars.
messages: Interacts with IGF2R.
messages: Lysosome lumen
messages: Putative phospholipase.
messages: The p76 protein is synthesized as a 80 kDa precursor which is then processed into a N-terminal 32 kDa form and a C-terminal 45 kDa form.
messages: Ubiquitously expressed, with highest levels in heart, brain and liver.

9606:HOXB3
gene id: 9606:HOXB3
uniprot id: B3KNJ7
uniprot id: P14651
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Antp homeobox family.
messages: Expressed in whole embryos and fetuses at 5-9 weeks from conception.
messages: Nucleus
messages: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

9606:ATP5F1A
gene id: 9606:ATP5F1A
uniprot id: P25705
uniprot id: V9HW26
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated on lysine residues. BLOC1S1 is required for acetylation.
messages: Belongs to the ATPase alpha/beta chains family.
messages: Cell membrane
messages: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c (By similarity). Interacts with ATPAF2 (PubMed:11410595). Interacts with HRG; the interaction occurs on the surface of T-cells and alters the cell morphology when associated with concanavalin (in vitro) (PubMed:19285951). Interacts with PLG (angiostatin peptide); the interaction inhibits most of the angiogenic properties of angiostatin (PubMed:10077593). Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MK and ATP5MJ (By similarity). Interacts with BLOC1S1 (PubMed:22309213). Interacts with BCL2L1 isoform BCL-X(L); the interaction mediates the association of BCL2L1 isoform BCL-X(L) with the mitochondrial membrane F(1)F(0) ATP synthase and enhances neurons metabolic efficiency (By similarity). Interacts with CLN5 and PPT1 (By similarity). Interacts with S100A1; this interaction increases F1-ATPase activity (By similarity). Interacts with ABCB7; this interaction allows the regulation of cellular iron homeostasis and cellular reactive oxygen species (ROS) levels in cardiomyocytes (By similarity).
messages: Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord.
messages: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity). Binds the bacterial siderophore enterobactin and can promote mitochondrial accumulation of enterobactin-derived iron ions (PubMed:30146159).
messages: Mitochondrion
messages: Mitochondrion inner membrane
messages: Produces ATP from ADP in the presence of a proton gradient across the membrane.
messages: The N-terminus is blocked.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The siderophore enterobactin (Ent) produced by enteric bacteria binds Fe(3+) and helps bacteria scavenge iron ions from the environment (PubMed:30146159). As a consequence, the mammalian siderocalin LCN2 plays an important role in defense against bacterial infections by sequestering iron bound to microbial siderophores. LCN2 can also bind iron bound to endogenous or nutrient-derived iron chelators and plays an important role in cellular iron homeostasis. Enterobactin produced by non-pathogenic E.coli strains can facilitate mitochondrial iron assimilation, suggesting that iron bound to siderophores from non-pathogenic bacteria may contribute to iron absorption by the host (PubMed:30146159).

9606:CCBE1
gene id: 9606:CCBE1
uniprot id: A0A8Q3WKU1
uniprot id: Q6UXH8
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CCBE1 family.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Not expressed in blood or lymphatic endothelial cells.
messages: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PRKRIP1
gene id: 9606:PRKRIP1
uniprot id: A0A024QYV5
uniprot id: Q9H875
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the PRKRIP1 family.
messages: Component of the pre-catalytic and post-catalytic spliceosome complexes (PubMed:28502770, PubMed:30705154). Interacts with EIF2AK2 (By similarity).
messages: Nucleus
messages: Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:30705154). Binds double-stranded RNA. Inhibits EIF2AK2 kinase activity (By similarity).
messages: nucleolus

9606:CDCA2
gene id: 9606:CDCA2
uniprot id: A8K8Z0
uniprot id: B7Z5Q5
uniprot id: E9PEI0
uniprot id: Q69YH5
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with PPP1CC.
messages: Nucleus
messages: Phosphorylated by CDK1. May regulate its subcellular location.
messages: Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates.
messages: Ubiquitously expressed.

9606:COTL1
gene id: 9606:COTL1
uniprot id: Q14019
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the actin-binding proteins ADF family. Coactosin subfamily.
messages: Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis.
messages: Cytoplasm
messages: Interacts with 5-lipoxygenase (ALOX5/5LO) in a calcium-independent manner. Binds to F-actin with a stoichiometry of 1:2.
messages: Nucleus
messages: Widely expressed with highest levels in placenta, lung, kidney and peripheral blood leukocytes and lower levels in brain, liver and pancreas.
messages: cytoskeleton

9606:TXNRD3
gene id: 9606:TXNRD3
uniprot id: B4DRZ5
uniprot id: Q86VQ6
names: Caution
names: Cofactor
names: Domain
names: Function
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
messages: Binds 1 FAD per subunit.
messages: Cytoplasm
messages: Displays thioredoxin reductase, glutaredoxin and glutathione reductase activities. Catalyzes disulfide bond isomerization. Promotes disulfide bond formation between GPX4 and various sperm proteins and may play a role in sperm maturation by promoting formation of sperm structural components (By similarity).
messages: Endoplasmic reticulum
messages: Homodimer.
messages: Microsome
messages: Nucleus
messages: The N-terminal glutaredoxin domain does not contain the C-X-X-C redox-active motif normally found in glutaredoxins but activity may be mediated through a single cysteine. The C-terminal Cys-Sec motif of one subunit of the homodimer may transfer electrons from the thiol-disulfide center to the glutaredoxin domain of the other subunit (By similarity).
messages: The thioredoxin reductase active site is a redox-active disulfide bond. The selenocysteine residue is also essential for catalytic activity (By similarity).
messages: This sequence initiates at a CTG codon.
messages: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.

9606:ACER1
gene id: 9606:ACER1
uniprot id: Q8TDN7
names: Activity Regulation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the alkaline ceramidase family.
messages: Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH (PubMed:17713573, PubMed:20207939, PubMed:20628055). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:12783875). Exhibits a strong substrate specificity towards the natural stereoisomer of ceramides with D-erythro-sphingosine as a backbone and has a higher activity towards very long-chain unsaturated fatty acids like the C24:1-ceramide (PubMed:17713573, PubMed:20207939). May also hydrolyze dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). ACER1 is a skin-specific ceramidase that regulates the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes and more generally plays an important role in skin homeostasis (PubMed:17713573).
messages: Endoplasmic reticulum membrane
messages: Inhibited by sphingosine (By similarity). Activity is Ca(2+)-dependent (PubMed:17713573).
messages: Mainly expressed in epidermis.
messages: Up-regulated by Ca(2+) (PubMed:17713573). Down-regulated by epidermal growth factor/EGF (PubMed:17713573).

9606:ESS2
gene id: 9606:ESS2
uniprot id: F8WEF8
uniprot id: Q96DF8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ESS2 family.
messages: Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.
messages: Identified in the spliceosome C complex.
messages: May be involved in pre-mRNA splicing.
messages: Nucleus

9606:ZNF248
gene id: 9606:ZNF248
uniprot id: Q8NDW4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:NAV2
gene id: 9606:NAV2
uniprot id: A7E2D6
uniprot id: Q8IVL1
names: Caution
names: Developmental Stage
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the Nav/unc-53 family.
messages: By all-trans retinoic acid (ATRA). Up-regulated in colorectal carcinomas.
messages: Highly expressed in the brain, kidney and liver. Also expressed in the thyroid, mammary gland, spinal cord, heart, placenta and lung. Abundantly expressed in colon cancers.
messages: Highly expressed in the nervous system of developing embryos. Also expressed in fetal heart, liver and kidney.
messages: Nucleus
messages: Possesses 3' to 5' helicase activity and exonuclease activity. Involved in neuronal development, specifically in the development of different sensory organs.
messages: PubMed:15158073 experiments have been carried out in mouse.

9606:LASP1
gene id: 9606:LASP1
uniprot id: A0A024R1S8
uniprot id: Q14847
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with F-actin (By similarity). Interacts with ANKRD54 (By similarity). Interacts with KBTBD10.
messages: Plays an important role in the regulation of dynamic actin-based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types (By similarity).
messages: Plays an important role in the regulation of dynamic actin-based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types.
messages: cell cortex
messages: cytoskeleton

9606:PLIN4
gene id: 9606:PLIN4
uniprot id: A0A0J9YXN7
names: Similarity
messages: Belongs to the perilipin family.

9606:HBM
gene id: 9606:HBM
uniprot id: A0A1K0FU50
uniprot id: Q6B0K9
names: Developmental Stage
names: Similarity
names: Tissue Specificity
messages: Belongs to the globin family.
messages: Expressed in erythroid tissues.
messages: Maximal expression during the erythroblast terminal differentiation.

9606:KCNU1
gene id: 9606:KCNU1
uniprot id: A8MYU2
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa5.1/KCNU1 sub-subfamily.
messages: Cell membrane
messages: Homotetramer; which constitutes the calcium-activated potassium channel. May interact with LRRC52; this interaction may change channel gating properties, such as shifting gating to more negative potentials at a given pH.
messages: Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina.
messages: Testis-specific.
messages: The C-terminal cytosolic region confers the pH-dependence.
messages: The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers into functional potassium channel.
messages: The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor.
messages: The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the selectivity filter of the pore. It contains the signature sequence of potassium channels that displays selectivity to potassium (By similarity).

9606:SND1
gene id: 9606:SND1
uniprot id: A0A140VK49
uniprot id: Q7KZF4
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2).
messages: (Microbial infection) Interacts with EAV NSP1 (PubMed:12917451). Binds to acidic transactivation domain of EBNA2 (PubMed:7651391).
messages: Cytoplasm
messages: Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs (PubMed:28546213, PubMed:18453631). As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition (PubMed:28546213). Functions as a bridging factor between STAT6 and the basal transcription factor (PubMed:12234934). Plays a role in PIM1 regulation of MYB activity (PubMed:9809063). Functions as a transcriptional coactivator for STAT5 (By similarity).
messages: Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs.
messages: Forms a ternary complex with STAT6 and POLR2A (PubMed:12234934). Associates with the RNA-induced silencing complex (RISC) (PubMed:14508492, PubMed:28546213). Interacts with the RISC components AGO2, FMR1 and TNRC6A (PubMed:14508492, PubMed:28546213). Interacts with GTF2E1 and GTF2E2 (PubMed:7651391). Interacts with PIM1 (PubMed:9809063). Interacts with STAT5 (By similarity). Interacts with SYT11 (via C2 2 domain); the interaction with SYT11 is direct (By similarity).
messages: Melanosome
messages: Nucleus
messages: Phosphorylated by PIM1 in vitro.
messages: Ubiquitously expressed.

9606:NFKBIB
gene id: 9606:NFKBIB
uniprot id: Q15653
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NF-kappa-B inhibitor family.
messages: Cytoplasm
messages: Expressed in all tissues examined.
messages: Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. However, the unphosphorylated form resynthesized after cell stimulation is able to bind NF-kappa-B allowing its transport to the nucleus and protecting it to further NFKBIA-dependent inactivation. Association with inhibitor kappa B-interacting NKIRAS1 and NKIRAS2 prevent its phosphorylation rendering it more resistant to degradation, explaining its slower degradation.
messages: Interacts with THRB (via ligand-binding domain) (PubMed:7776974). Interacts with RELA and REL (By similarity). Interacts with COMMD1 (PubMed:16573520). Interacts with inhibitor kappa B-interacting Ras-like NKIRAS1 and NKIRAS2 (PubMed:10657303, PubMed:12672800, PubMed:15024091).
messages: Nucleus
messages: Phosphorylated by RPS6KA1; followed by degradation. Interaction with NKIRAS1 and NKIRAS2 probably prevents phosphorylation.

9606:HSD11B1L
gene id: 9606:HSD11B1L
uniprot id: Q7Z5J1
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
messages: Secreted

9606:SPATS2
gene id: 9606:SPATS2
uniprot id: A0A024R101
uniprot id: Q86XZ4
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SPATS2 family.
messages: Cytoplasm

9606:PARS2
gene id: 9606:PARS2
uniprot id: Q7L3T8
names: Disease Annotation
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the class-II aminoacyl-tRNA synthetase family.
messages: Mitochondrion matrix
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:HES1
gene id: 9606:HES1
uniprot id: Q14469
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).
messages: Nucleus
messages: The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.
messages: The bHLH, as well as cooperation between the central Orange domain and the C-terminal WRPW motif, is required for transcriptional repressor activity.
messages: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts (via WPRW motif) with TLE1, and more weakly with TLE2. Interacts with HES6 (By similarity). Interacts with SIRT1. Interacts with an FA complex, composed of FANCA, FANCF, FANCG and FANCL, but not of FANCC, nor FANCE.
messages: Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage.

9606:NONO
gene id: 9606:NONO
uniprot id: A0A0S2Z4Z9
uniprot id: Q15233
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HIV-2 Capsid protein p24; interacts with high affinity (PubMed:30270045). Interacts with HIV-1 Capsid protein p24; interacts with low affinity (PubMed:30270045).
messages: A chromosomal aberration involving NONO may be a cause of papillary renal cell carcinoma (PRCC). Translocation t(X;X)(p11.2;q13.1) with TFE3.
messages: Chromosome
messages: DNA- and RNA binding protein, involved in several nuclear processes (PubMed:11525732, PubMed:12403470, PubMed:26571461). Binds the conventional octamer sequence in double-stranded DNA (PubMed:11525732, PubMed:12403470, PubMed:26571461). Also binds single-stranded DNA and RNA at a site independent of the duplex site (PubMed:11525732, PubMed:12403470, PubMed:26571461). Involved in pre-mRNA splicing, probably as a heterodimer with SFPQ (PubMed:11525732, PubMed:12403470, PubMed:26571461). Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b (PubMed:12403470). Together with PSPC1, required for the formation of nuclear paraspeckles (PubMed:22416126). The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs (PubMed:11525732). The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1 (PubMed:10858305). The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends (PubMed:15590677). In vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex (PubMed:15590677). NONO is involved in transcriptional regulation. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity (PubMed:11897684). NONO binds to an enhancer element in long terminal repeats of endogenous intracisternal A particles (IAPs) and activates transcription (By similarity). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer (By similarity). Important for the functional organization of GABAergic synapses (By similarity). Plays a specific and important role in the regulation of synaptic RNAs a…
messages: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Also found in a number of breast tumor cell lines.
messages: Monomer and component of the SFPQ-NONO complex, which is probably a heterotetramer of two 52 kDa (NONO) and two 100 kDa (SFPQ) subunits (PubMed:8439294, PubMed:15590677). NONO is a component of spliceosome and U5.4/6 snRNP complexes (PubMed:12403470). Interacts with CPNE4 (via VWFA domain) (By similarity). Forms heterodimers with PSPC1; this involves formation of a coiled coil domain by helices from both proteins (PubMed:16148043, PubMed:22416126). Part of complex consisting of SFPQ, NONO and MATR3 (PubMed:11525732). Part of a complex consisting of SFPQ, NONO and NR5A1 (PubMed:11897684). Part of a complex consisting of SFPQ, NONO and TOP1 (PubMed:9756848). Interacts with SPI1 and SPIB (By similarity). Interacts with RNF43 (PubMed:18655028). Interacts with PER1 and PER2 (By similarity). Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA (PubMed:28712728). Interacts (via second RRM domain) with WASL; the interaction is direct (PubMed:16767080). Component of a multiprotein complex with WASL and SFPQ (PubMed:16767080). Interacts with ERCC6 (PubMed:26030138). Interacts (via DNA-binding domain) with TET1 (By similarity).
messages: Nucleus
messages: Nucleus speckle
messages: The N-terminus is blocked.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nucleolus

9606:YAP1
gene id: 9606:YAP1
uniprot id: P46937
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activates the C-terminal fragment (CTF) of ERBB4 (isoform 3).
messages: Belongs to the YAP1 family.
messages: Binds to the SH3 domain of the YES kinase. Binds to WBP1 and WBP2 (PubMed:9202023). Binds, in vitro, through the WW1 domain, to neural isoforms of ENAH that contain the PPSY motif (By similarity). The phosphorylated form interacts with YWHAB (PubMed:17974916). Interacts (via WW domains) with LATS1 (via PPxY motif 2) (PubMed:18158288). Interacts with LATS2 (PubMed:18158288). Interacts with TEAD1, TEAD2, TEAD3 and TEAD4 (PubMed:18579750, PubMed:20123905, PubMed:20123908). Interacts with TP73 (PubMed:18280240). Interacts with RUNX1 (PubMed:18280240). Interacts with HCK (PubMed:17535448). Interacts (via WW domains) with PTPN14 (via PPxY motif 2); this interaction leads to the cytoplasmic sequestration of YAP1 and inhibits its transcriptional coactivator activity (PubMed:22525271). Interacts (when phosphorylated at Ser-127) with SMAD2, SMAD3 and WWTR1 (By similarity). Interacts with PRRG2 (via cytoplasmic domain) (PubMed:17502622). Interacts (via WW domains) with PRRG4 (via cytoplasmic domain) (PubMed:23873930).
messages: Cytoplasm
messages: Highest expression in ovary and placenta, lowest in skeletal muscle and brain.
messages: Increased expression seen in some liver and prostate cancers. Isoforms lacking the transactivation domain found in striatal neurons of patients with Huntington disease (at protein level).
messages: Interacts (via WW domain 1) with isoform 3 of ERBB4 (via PPxY motif 2).
messages: Nucleus
messages: Phosphorylated by LATS1 and LATS2; leading to cytoplasmic translocation and inactivation (PubMed:18158288, PubMed:20048001). Phosphorylated by ABL1; leading to YAP1 stabilization, enhanced interaction with TP73 and recruitment onto proapoptotic genes; in response to DNA damage (PubMed:18280240). Phosphorylation at Ser-400 and Ser-403 by CK1 is triggered by previous phosphorylation at Ser-397 by LATS proteins and leads to YAP1 ubiquitination by SCF(beta-TRCP) E3 ubiquitin ligase and subsequent degradation (PubMed:20048001). Phosphorylated at Thr-119, Ser-138, Thr-154, Ser-367 and Thr-412 by MAPK8/JNK1 and MAPK9/JNK2, which is required for the regulation of apoptosis by YAP1 (PubMed:21364637).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The first coiled-coil region mediates most of the interaction with TEAD transcription factors.
messages: Transcriptional regulator which can act both as a coactivator and a corepressor and is the critical downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts via ARHGAP18, a Rho GTPase activating protein that suppresses F-actin polymerization (PubMed:25778702). Plays a key role in controlling cell proliferation in response to cell contact. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:18158288). The presence of TEAD transcription factors are required for it to stimulate gene expression, cell growth, anchorage-independent growth, and epithelial mesenchymal transition (EMT) induction (PubMed:18579750). Suppresses ciliogenesis via acting as a transcriptional corepressor of the TEAD4 target genes AURKA and PLK1 (PubMed:25849865). In conjunction with WWTR1, involved in the regulation of TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity).
messages: Ubiquitinated by SCF(beta-TRCP) E3 ubiquitin ligase.

9606:CDX4
gene id: 9606:CDX4
uniprot id: O14627
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Caudal homeobox family.
messages: Nucleus

9606:CCNL1
gene id: 9606:CCNL1
uniprot id: Q9UK58
names: Domain
names: Function
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with human herpes virus 1 (HHV-1) transcriptional regulator ICP22.
messages: Belongs to the cyclin family. Cyclin L subfamily.
messages: CCNL1 is amplified in several HNSCC. May play a critical role in the formation of loco-regional metastases and an unfavorable clinical outcome of HNSCC.
messages: Contains a RS region (arginine-serine dipeptide repeat) within the C-terminal domain which is the hallmark of the SR family of splicing factors. This region probably plays a role in protein-protein interactions.
messages: Interacts with POLR2A via its hyperphosphorylated C-terminal domain (CTD) (By similarity). Interacts with CDK11A, CDK12 and CDK13 (PubMed:11980906, PubMed:18216018). Isoforms 1 and 2, but not isoform 3, interact with CDK11B. May form a ternary complex with CDK11B and casein kinase II (CKII) (PubMed:18216018). Interacts with pre-mRNA-splicing factors, including at least SRSF1, SRSF2 and SRSF7/SLU7 (PubMed:11980906, PubMed:18216018).
messages: Involved in pre-mRNA splicing. Functions in association with cyclin-dependent kinases (CDKs) (PubMed:18216018). Inhibited by the CDK-specific inhibitor CDKN1A/p21 (PubMed:11980906). May play a role in the regulation of RNA polymerase II (pol II). May be a candidate proto-oncogene in head and neck squamous cell carcinomas (HNSCC) (PubMed:12414649, PubMed:15700036).
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus speckle
messages: Probable cloning artifact.
messages: Widely expressed. Overexpression in primary tumors of head and neck squamous cell carcinomas (HNSCC).
messages: nucleoplasm

9606:PRPF38B
gene id: 9606:PRPF38B
uniprot id: Q5VTL8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the PRP38 family.
messages: May be required for pre-mRNA splicing.
messages: Nucleus

9606:NAP1L3
gene id: 9606:NAP1L3
uniprot id: Q8IYV1
uniprot id: Q99457
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the nucleosome assembly protein (NAP) family.
messages: Nucleus

9606:NDC80
gene id: 9606:NDC80
uniprot id: A8K031
uniprot id: O14777
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylated at Lys-53 and Lys-59 by KAT5 during mitosis, promoting robust kinetochore-microtubule attachment (PubMed:30409912). Deacetylated by SIRT1 (PubMed:30409912).
messages: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:9315664, PubMed:12351790, PubMed:14654001, PubMed:14699129, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:16732327, PubMed:30409912). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592, PubMed:30409912). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules (PubMed:25743205, PubMed:23891108).
messages: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity.
messages: Belongs to the NDC80/HEC1 family.
messages: Component of the NDC80 complex, which consists of NDC80/HEC1, CDCA1, SPBC24 and SPBC25. The NDC80 complex is formed by two subcomplexes composed of NDC80/HEC1-CDCA1 and SPBC24-SPBC25. Each subcomplex is formed by parallel interactions through the coiled-coil domains of individual subunits. Formation of a tetrameric complex is mediated by interactions between the C-terminal regions of both subunits of the NDC80/HEC1-CDCA1 subcomplex and the N-terminal regions of both subunits of the SPBC24-SPBC25 complex. The tetrameric NDC80 complex has an elongated rod-like structure with globular domains at either end. Interacts with isoform 1 of NEK2 and ZWINT specifically during mitosis. Interacts with CENPH and MIS12. May interact with AURKB, PSMC2, PSMC5 and SMC1A. May interact with RB1 during G2 phase and mitosis. Interacts with CKAP5 (PubMed:27156448). Interacts with CDT1; leading to kinetochore localization of CDT1 (PubMed:22581055).
messages: Component of the NDC80 complex.
messages: Expression peaks in mitosis.
messages: Nucleus
messages: Phosphorylation begins in S phase of the cell cycle and peaks in mitosis. Phosphorylated by NEK2. Also phosphorylated by AURKA and AURKB.
messages: kinetochore

9606:PTCD3
gene id: 9606:PTCD3
uniprot id: Q96EY7
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundant in testes, skeletal muscle and heart tissue.
messages: Belongs to the mitochondrion-specific ribosomal protein mS39 family.
messages: Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. Associated with the 12S mitochondrial rRNA (12S mt-rRNA).
messages: Mitochondrial RNA-binding protein that has a role in mitochondrial translation.
messages: Mitochondrion
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:LOC102723553
gene id: 9606:LOC102723553
uniprot id: P58511
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in heart, spleen, liver, stomach, muscle, lung, testis, skin, PBL and bone marrow.
messages: Membrane

9606:ITGAX
gene id: 9606:ITGAX
uniprot id: H3BN02
uniprot id: P20702
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the integrin alpha chain family.
messages: Heterodimer of an alpha and a beta subunit. Alpha-X associates with beta-2.
messages: Integrin alpha-X/beta-2 is a receptor for fibrinogen. It recognizes the sequence G-P-R in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis.
messages: Membrane
messages: Predominantly expressed in monocytes and granulocytes.
messages: The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.

9606:CASD1
gene id: 9606:CASD1
uniprot id: Q8WZ77
uniprot id: Q96PB1
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the PC-esterase family. CASD1 subfamily.
messages: Golgi apparatus membrane
messages: Highly expressed in peripheral B lymphocytes.
messages: Membrane
messages: N-glycosylated.
messages: O-acetyltransferase that catalyzes 9-O-acetylation of sialic acids (PubMed:20947662, PubMed:26169044). Sialic acids are sugars at the reducing end of glycoproteins and glycolipids, and are involved in various processes such as cell-cell interactions, host-pathogen recognition (PubMed:20947662, PubMed:26169044).

9606:RRAGD
gene id: 9606:RRAGD
uniprot id: Q9NQL2
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GTR/RAG GTP-binding protein family.
messages: Cytoplasm
messages: Forms a heterodimer with RRAGA in a sequence-independent manner and RRAGB (PubMed:11073942, PubMed:14660641). Heterodimerization stabilizes RRAG proteins (PubMed:11073942, PubMed:14660641, PubMed:25561175, PubMed:25567906). In complex with RRAGB, interacts with RPTOR; this interaction is particularly efficient with GTP-loaded RRAGB and GDP-loaded RRAGC (PubMed:18497260). Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RRAGA/RagA or RRAGB/RagB GDP-bound, RRAGC/RagC or RRAGD/RagD GTP-bound, and Ragulator (By similarity). Interacts with NOL8 (PubMed:14660641). Interacts with SH3BP4; the interaction with this negative regulator is most probably direct, preferentially occurs with the inactive GDP-bound form of RRAGD and is negatively regulated by amino acids (PubMed:22575674). The Rag heterodimer interacts with SLC38A9; the probable amino acid sensor (PubMed:25561175, PubMed:25567906). Interacts with SESN1, SESN2 and SESN3 (PubMed:25259925). The GDP-bound form interacts with TFE3 (By similarity).
messages: Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade (PubMed:20381137, PubMed:24095279). Forms heterodimeric Rag complexes with RRAGA or RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form (PubMed:24095279). In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:20381137, PubMed:24095279). This is a crucial step in the activation of the TOR signaling cascade by amino acids (PubMed:20381137, PubMed:24095279).
messages: In high-amino acid conditions, activated by GTPase activating protein (GAP) FLCN that stimulates RRAGD GTPase activity to turn it into its active GDP-bound form.
messages: Lysosome
messages: Nucleus

9606:ARFGAP1
gene id: 9606:ARFGAP1
uniprot id: Q8N6T3
names: Domain
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity).
messages: Golgi apparatus
messages: Interacts with ARF1. Interacts with the COPI coat proteins, KDELR1 and TMED2. The interaction with TMED2 inhibits the GAP activity (By similarity).
messages: Intron retention.
messages: The region downstream of Arf-GAP domain is essential to GAP activity in vivo. This region may be required for its targeting to Golgi membranes (By similarity).

9606:APELA
gene id: 9606:APELA
uniprot id: P0DMC3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Elabela/Toddler family.
messages: Endogenous ligand for the apelin receptor (APLNR) (PubMed:25639753, PubMed:28137936). Hormone required for mesendodermal differentiation, blood vessels formation and heart morphogenesis during early development and for adult cardiovascular homeostasis (PubMed:25639753, PubMed:28137936). Drives internalization of APLNR. Acts as a motogen by promoting mesendodermal cell migration during gastrulation by binding and activating APLNR. Acts as an early embryonic regulator of cellular movement with a role in migration and development of cardiac progenitor cells. May act as a chemoattractant for the activation of angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis. Positively regulates sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel sprouting. Plays a role in placental vascular development; promotes placental trophoblast invasion and spiral artery remodeling in the uterus. Involved in the regulation of maternal cardiovascular homeostasis to prevent gestational hypertension and for potent cardioprotective functions during heart failure. Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity).
messages: Expressed in the intima of blood vessels (PubMed:28137936). Expressed in endothelial cells in blood vessels in the heart and lung (PubMed:28137936). Expressed in cytotrophoblasts and syncytiotrophoblasts of first-trimester placental tissue and term placentas (at protein level) (PubMed:28663440). Not detected in smooth muscle cells or cardiomyocytes (at protein level) (PubMed:28137936). Expressed in kidney (PubMed:25639753). Expressed in blood vessels (PubMed:28137936). Expressed in embryonic (ESCs) and induced (iPSCs) pluripotent stem cells (PubMed:25639753). Most highly expressed in undifferentiated embryonic stem cell and is rapidly down-regulated during differentiation (PubMed:24316148).
messages: Interacts with APLNR (PubMed:24316148).
messages: Secreted
messages: extracellular space

9606:EHD1
gene id: 9606:EHD1
uniprot id: A0A024R571
uniprot id: B2R5U3
uniprot id: Q9H4M9
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250).
messages: Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.
messages: Cell membrane
messages: Early endosome membrane
messages: Endosome membrane
messages: Highly expressed in testis.
messages: Homooligomer, and heterooligomer with EHD2, EHD3 and EHD4, ATP-binding is required for heterooligomerization (PubMed:16251358, PubMed:17233914, PubMed:18331452). Interacts (via EH domain) with MICALL1 (via NPF1 motif); the interaction is direct and recruits EHD1 to membranes (PubMed:19864458, PubMed:20106972). Interacts with RAB35; the interaction is indirect through MICALL1 and recruits EHD1 to membranes (By similarity). Interacts (via EH domain) with PACSIN2 (via NPF motifs); regulates localization to tubular recycling endosome membranes (PubMed:23596323). Interacts with PACSIN1 (By similarity). Interacts with RAB8A (PubMed:19864458). Interacts with FER1L5 (via second C2 domain) (By similarity). Interacts with MYOF (By similarity). Interacts with ZFYVE20 (PubMed:15020713). Interacts (via EH domain) with RAB11FIP2 (PubMed:16251358).
messages: Membrane
messages: Recycling endosome membrane
messages: The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
messages: cilium membrane

9606:COL1A2
gene id: 9606:COL1A2
uniprot id: P08123
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1.
messages: Belongs to the fibrillar collagen family.
messages: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
messages: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
messages: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Trimers of one alpha 2(I) and two alpha 1(I) chains.
messages: Type I collagen is a member of group I collagen (fibrillar forming collagen).
messages: extracellular matrix

9606:EPHA2
gene id: 9606:EPHA2
uniprot id: A0A024QZA8
uniprot id: P29317
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins.
messages: (Microbial infection) Interacts with Epstein-Barr virus/HHV-4 glycoprotein L/gL and glycoprotein H/gH heterodimer; this interaction facilitates virus internalization and fusion.
messages: (Microbial infection) Interacts with human herpes virus 8/HHV-8 glycoprotein L/gL and glycoprotein H/gH heterodimer; this interaction triggers EPHA2 phosphorylation and endocytosis, allowing virus entry.
messages: Autophosphorylates. Phosphorylated on tyrosine upon binding and activation by EFNA1. Phosphorylated residues Tyr-588 and Tyr-594 are required for binding VAV2 and VAV3 while phosphorylated residues Tyr-735 and Tyr-930 are required for binding PI3-kinase p85 subunit (PIK3R1, PIK3R2 or PIK3R3). These phosphorylated residues are critical for recruitment of VAV2 and VAV3 and PI3-kinase p85 subunit which transduce downstream signaling to activate RAC1 GTPase and cell migration. Dephosphorylation of Tyr-930 by PTPRF prevents the interaction of EPHA2 with NCK1. Phosphorylated at Ser-897 by PKB; serum-induced phosphorylation which targets EPHA2 to the cell leading edge and stimulates cell migration. Phosphorylation by PKB is inhibited by EFNA1-activated EPHA2 which regulates PKB activity via a reciprocal regulatory loop. Phosphorylated at Ser-897 in response to TNF by RPS6KA1 and RPS6KA3; RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630). Phosphorylated at Ser-897 by PKA; blocks cell retraction induced by EPHA2 kinase activity (PubMed:27385333). Dephosphorylated by ACP1.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
messages: Cell membrane
messages: Expressed in brain and glioma tissue and glioma cell lines (at protein level). Expressed most highly in tissues that contain a high proportion of epithelial cells, e.g. skin, intestine, lung, and ovary.
messages: Homodimer. Interacts with SLA. Interacts (phosphorylated form) with VAV2, VAV3 and PI3-kinase p85 subunit (PIK3R1, PIK3R2 or PIK3R3); critical for the EFNA1-induced activation of RAC1 which stimulates cell migration (By similarity). Interacts with INPPL1; regulates activated EPHA2 endocytosis and degradation. Interacts (inactivated form) with PTK2/FAK1 and interacts (EFNA1 ligand-activated form) with PTPN11; regulates integrin-mediated adhesion. Interacts with ARHGEF16, DOCK4 and ELMO2; mediates ligand-independent activation of RAC1 which stimulates cell migration. Interacts with CLDN4; phosphorylates CLDN4 and may regulate tight junctions. Interacts with ACP1. Interacts (via SAM domain) with ANKS1A (via SAM domain). Interacts with CEMIP. Interacts with NCK1; may regulate EPHA2 activity in cell migration and adhesion. Interacts with TIMD4 (PubMed:34067457).
messages: Membrane
messages: Overexpressed in several cancer types and promotes malignancy.
messages: Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by CHIP/STUB1. Ubiquitination is regulated by the HSP90 chaperone and regulates the receptor stability and activity through proteasomal degradation. ANKS1A prevents ubiquitination and degradation (By similarity).
messages: Up-regulated by UV irradiation via a TP53-independent, MAPK-dependent mechanism.
messages: focal adhesion
messages: lamellipodium membrane
messages: ruffle membrane

9606:NUB1
gene id: 9606:NUB1
uniprot id: A0A090N8Q5
uniprot id: Q9Y5A7
names: Caution
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By TNF, IFNG/IFN-gamma and IFNB1/IFN-beta.
messages: Directly interacts with NEDD8 and PSMD4/S5a, a member of the regulatory subunit of the 26S proteasome. Isoform 1 binds to NEDD8 more efficiently than isoform 2. Interacts with AIPL1. The interaction with UBD via UBA domains facilitates the linking of UBD-conjugated target protein to the proteasome complex and accelerates UBD degradation and that of its conjugates.
messages: Nucleus
messages: Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2.
messages: The sequence shown here is derived from an EMBL/GenBank/DDBJ whole genome shotgun (WGS) entry which is preliminary data.
messages: Widely expressed with lowest expression in the pancreas for isoform 1 and in leukocytes, liver, prostate and skeletal muscle for isoform 2.

9606:AWAT1
gene id: 9606:AWAT1
uniprot id: Q58HT5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters (PubMed:15671038). Shows a strong preference for decyl alcohol (C10), with less activity towards C16 and C18 alcohols (PubMed:15671038). Shows a strong preference for saturated acyl-CoAs (PubMed:15671038).
messages: Belongs to the diacylglycerol acyltransferase family.
messages: Endoplasmic reticulum membrane
messages: Predominantly expressed in skin, where it is limited to the sebaceous gland. Expressed in more mature, centrally located cells just before their rupture and sebum release. Also expressed in all tissues except spleen. Expressed at higher level in thymus, prostate and testis.

9606:H2AC1
gene id: 9606:H2AC1
uniprot id: Q96QV6
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the histone H2A family.
messages: Chromosome
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Deiminated on Arg-4 in granulocytes upon calcium entry.
messages: Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.
messages: Nucleus
messages: Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.
messages: Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.

9606:AHDC1
gene id: 9606:AHDC1
uniprot id: Q5TGY3
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
messages: Chromosome
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter chromatin architecture (PubMed:35585237). Interacts with many sequence-specific zinc-finger transcription factors and methyl-CpG-binding proteins to regulate the expression of mesoderm genes that wire surface ectoderm stratification (PubMed:35585237).

9606:GPAT2
gene id: 9606:GPAT2
uniprot id: Q6NUI2
names: Activity Regulation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GPAT/DAPAT family.
messages: Inhibited by N-ethylmaleimide (NEM).
messages: Interacts with PIWIL2.
messages: Mitochondrion outer membrane
messages: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
messages: Transfers an acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate producing a lysophosphatidic acid (LPA), an essential step for the triacylglycerol (TAG) and glycerophospholipids. In vitro also transfers an acyl-group from acyl-ACP to the LPA producing a phosphatidic acid (PA). Prefers arachidonoyl-CoA as the acyl donor. Required for primary processing step during piRNA biosynthesis. Molecular mechanisms by which it promotes piRNA biosynthesis are unclear and do not involve its acyltransferase activity.

9606:SHOC2
gene id: 9606:SHOC2
uniprot id: Q9UQ13
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SHOC2 family.
messages: Cytoplasm
messages: Interacts with M-Ras/MRAS, and RAF1 (PubMed:16630891, PubMed:25137548). Forms a multiprotein complex with Ras (M-Ras/MRAS), Raf (RAF1) and protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC) (PubMed:16630891, PubMed:25137548). Interacts with ERBIN; disrupts the interaction with RAF1 and Ras, leading to prevent activation of the Ras signaling pathway (PubMed:16301319). Specifically binds K-Ras/KRAS, M-Ras/MRAS and N-Ras/NRAS but not H-Ras/HRAS (PubMed:9674433). Interacts with LZTR1 (PubMed:30368668).
messages: Nucleus
messages: Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CHAT
gene id: 9606:CHAT
uniprot id: D3DX95
uniprot id: P28329
names: Disease Annotation
names: Function
names: Similarity
messages: Belongs to the carnitine/choline acetyltransferase family.
messages: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CCNT2
gene id: 9606:CCNT2
uniprot id: O60583
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HIV-2 and SIV Tat. Does not bind efficiently to the transactivation domain of the HIV-1 Tat (PubMed:10364329).
messages: (Microbial infection) Promotes transcriptional activation of early and late herpes simplex virus 1/HHV-1 promoters.
messages: Belongs to the cyclin family. Cyclin C subfamily.
messages: Interacts with CDK9 to form P-TEFb (PubMed:9499409, PubMed:16331689). Interacts with POLR2A (via the C-terminal domain (CTD)); mediates transcriptional activity (PubMed:15563843). Interacts with HEXIM1; mediates formation of a tripartite complex with KPNA2. Interacts with HEXIM2 (PubMed:19883659). Interacts with PKN1; enhances MYOD1-dependent transcription (PubMed:16331689). P-TEFB complex interacts with RB1; promotes phosphorylation of RB1 (PubMed:12037672). P-TEFB complex interacts with MYOD1; promotes the transcriptional activity of MYOD1 through its CDK9-mediated phosphorylation (By similarity). Interacts with MDFI and MDFIC (PubMed:17289077). Interacts with MON1B; down-regulates CCNT2-mediated activation of viral promoters during herpes simplex virus 1/HHV-1 infection (PubMed:21509660).
messages: Nucleus
messages: Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin T) complex, also called positive transcription elongation factor B (P-TEFB), which is proposed to facilitate the transition from abortive to production elongation by phosphorylating the CTD (carboxy-terminal domain) of the large subunit of RNA polymerase II (RNAP II) (PubMed:9499409, PubMed:15563843). The activity of this complex is regulated by binding with 7SK snRNA (PubMed:11713533). Plays a role during muscle differentiation; P-TEFB complex interacts with MYOD1; this tripartite complex promotes the transcriptional activity of MYOD1 through its CDK9-mediated phosphorylation and binds the chromatin of promoters and enhancers of muscle-specific genes; this event correlates with hyperphosphorylation of the CTD domain of RNA pol II (By similarity). In addition, enhances MYOD1-dependent transcription through interaction with PKN1 (PubMed:16331689). Involved in early embryo development (By similarity).
messages: Ubiquitously expressed.
messages: perinuclear region

9606:PALM3
gene id: 9606:PALM3
uniprot id: A6NDB9
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: ATP-binding protein, which may act as a adapter in the Toll-like receptor (TLR) signaling.
messages: Belongs to the paralemmin family.
messages: Cell membrane
messages: Cytoplasm
messages: Interacts with SIGIRR.
messages: Palmitoylated on Cys-667 and Cys-669 and prenylated on Cys-670; which is required for membrane association.
messages: Up-regulated by bacterial lipopolysaccharides (LPS).

9606:USP17L12
gene id: 9606:USP17L12
uniprot id: C9JPN9
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the peptidase C19 family. USP17 subfamily.
messages: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
messages: Endoplasmic reticulum
messages: Nucleus
messages: The RS447 megasatellite DNA is a highly polymorphic conserved tandem repetitive sequence which contains a copy of the USP17 gene. It is present with an interindividual variation in copy number, ranging from 20 to 103, and can be found in the genome on chromosome 4 and chromosome 8. The high similarity between the UPS17-like genes makes it impossible to specifically assign data to a particular gene of the family. Oligonucleotides designed in RNAi experiments are for instance not specific for a given UPS17-like gene.

9606:ST3GAL3
gene id: 9606:ST3GAL3
uniprot id: A0A2R8Y732
uniprot id: Q11203
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 29 family.
messages: Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc.
messages: Golgi stack membrane
messages: Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Membrane
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The soluble form derives from the membrane form by proteolytic processing.

9606:KAT6A
gene id: 9606:KAT6A
uniprot id: A5PKX7
uniprot id: A5PLL3
uniprot id: Q92794
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving KAT6A is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with ASXL2 generates a KAT6A-ASXL2 fusion protein.
messages: Autoacetylation at Lys-604 is required for proper function (By similarity). Autoacetylated.
messages: Belongs to the MYST (SAS/MOZ) family.
messages: Chromosomal aberrations involving KAT6A may be a cause of acute myeloid leukemias. Translocation t(8;16)(p11;p13) with CREBBP (PubMed:8782817). Translocation t(8;22)(p11;q13) with EP300 (PubMed:10824998). KAT6A-CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription (PubMed:11742995). Inversion inv(8)(p11;q13) generates the KAT6A-NCOA2 oncogene, which consists of the N-terminal part of KAT6A and the C-terminal part of NCOA2/TIF2. KAT6A-NCOA2 binds to CREBBP and disrupts its function in transcription activation (PubMed:12676584).
messages: Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts with RUNX1; phosphorylation of RUNX1 enhances the interaction. Interacts with RUNX2. Interacts with p53/TP53. Interacts with PML (isoform PML-4) and this interaction positively regulates its acetylation activity towards p53/TP53.
messages: Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML.
messages: Nucleus
messages: PML body
messages: Phosphorylation at Thr-369 by PKB/AKT1 inhibits its interaction with PML and negatively regulates its acetylation activity towards p53/TP53.
messages: The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nucleolus
messages: nucleoplasm

9606:BCHE
gene id: 9606:BCHE
uniprot id: P06276
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the type-B carboxylesterase/lipase family.
messages: Detected in blood plasma (at protein level). Present in most cells except erythrocytes.
messages: Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.
messages: Homotetramer; disulfide-linked. Dimer of dimers.
messages: Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes irreversible upon aging.
messages: N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CHAMP1
gene id: 9606:CHAMP1
uniprot id: Q96JM3
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Chromosome
messages: Interacts with MAD2L2. Interacts with POGZ, CBX1, CBX3 and CBX5.
messages: Nucleus
messages: Phosphorylated by CDK1. Mitotic phosphorylation is required for the attachment of spindle microtubules to the kinetochore.
messages: Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore.
messages: kinetochore
messages: spindle

9606:ZMIZ1
gene id: 9606:ZMIZ1
uniprot id: Q9ULJ6
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (PubMed:14609956, PubMed:26522984). Also functions as a transcriptional coactivator in the TGF-beta signaling pathway by increasing the activity of the SMAD3/SMAD4 transcriptional complex (PubMed:16777850). Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity). Involved in the regulation of postmitotic positioning of pyramidal neurons in the developing cerebral cortex (PubMed:30639322).
messages: Cytoplasm
messages: Expressed most abundantly in ovary and, at lower levels, in prostate, spleen and testis. Weak expression, if any, in thymus, small intestine, colon and peripheral blood leukocytes.
messages: Interacts with AR, but not with ESR1, NR3C1, PGR, THRB nor VDR. Interacts with NOTCH1 and RBPJ (PubMed:14609956, PubMed:26522984). Interacts with SMARCA4 (By similarity). Interacts (via SP-RING-type domain) with SMAD3 and SMAD4 (via MH2 domain) (PubMed:16777850).
messages: Nucleus
messages: The C-terminal proline-rich domain possesses a significant intrinsic transcriptional activity. This activity is inhibited by the N-terminus in the full-length protein.
messages: The SP-RING-type domain mediates interaction with SMAD3 and SMAD4.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nucleoplasm

9606:ZNF689
gene id: 9606:ZNF689
uniprot id: Q96CS4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:ALB
gene id: 9606:ALB
uniprot id: P02768
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A peptide arising from positions 166 to 174 was originally (PubMed:3087352 and PubMed:2437111) termed neurotensin-related peptide (NRP) or kinetensin and was thought to regulate fat digestion, lipid absorption, and blood flow.
messages: A variant structure of albumin could lead to increased binding of zinc resulting in an asymptomatic augmentation of zinc concentration in the blood. The sequence shown is that of variant albumin A.
messages: Acetylated on Lys-223 by acetylsalicylic acid.
messages: Belongs to the ALB/AFP/VDB family.
messages: Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (PubMed:19021548). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli (PubMed:6234017). Does not prevent iron uptake by the bacterial siderophore aerobactin (PubMed:6234017).
messages: Glycated in diabetic patients.
messages: Interacts with FCGRT; this interaction regulates ALB homeostasis (PubMed:28330995). Interacts with TASOR (By similarity). In plasma, occurs in a covalently-linked complex with chromophore-bound alpha-1-microglobulin with molar ratio 1:2 and 1:1; this interaction does not prevent fatty acid binding to ALB.
messages: Kenitra variant is partially O-glycosylated at Thr-620. It has two new disulfide bonds Cys-600 to Cys-602 and Cys-601 to Cys-606.
messages: Phosphorylated by FAM20C in the extracellular medium.
messages: Plasma.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:VPS26B
gene id: 9606:VPS26B
uniprot id: A0A024R3L9
uniprot id: Q4G0F5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. May be involved in retrograde transport of SORT1 but not of IGF2R. Acts redundantly with VSP26A in SNX-27 mediated endocytic recycling of SLC2A1/GLUT1 (By similarity).
messages: Belongs to the VPS26 family.
messages: Component of the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting VPS subcomplex (VPS,) formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35. The CSC has a highly elongated structure with VPS26 and VPS29 binding independently at opposite distal ends of VPS35 as central platform. The CSC is believed to associate with variable sorting nexins to form functionally distinct retromer complex variants. The originally described retromer complex (also called SNX-BAR retromer) is a pentamer containing the CSC and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity. The CSC associates with SNX3 to form a SNX3-retromer complex. The CSC associates with SNX27, the WASH complex and the SNX-BAR subcomplex to form the SNX27-retromer complex. Interacts with VPS29, VPS35, TBC1D5, GOLPH3, SNX27 (By similarity).
messages: Cytoplasm
messages: Early endosome
messages: Endosome
messages: Late endosome
messages: Membrane

9606:ATXN3
gene id: 9606:ATXN3
uniprot id: A0A0A0MS38
uniprot id: C9JQV6
uniprot id: P54252
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460).
messages: Interacts with STUB1/CHIP (when monoubiquitinated) (By similarity). Interacts with DNA repair proteins RAD23A and RAD23B (PubMed:16020535, PubMed:30455355). Interacts with BECN1 (via its poly-Gln domain) (PubMed:28445460). Interacts with PRKN, UBR2, VCP and tubulin. Short isoform 1 interacts with CASP7 (PubMed:30455355).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Monoubiquitinated N-terminally by UBE2W, possibly leading to activate the deubiquitinating enzyme activity (PubMed:23696636).
messages: Nucleus
messages: Nucleus matrix
messages: The UIM domains bind ubiquitin and interact with various E3 ubiquitin-protein ligase, such as STUB1/CHIP. They are essential to limit the length of ubiquitin chains (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The poly-Gln domain is involved in the interaction with BECN1 and subsequent starvation-induced autophagy (PubMed:28445460).
messages: The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients (PubMed:7874163, PubMed:9274833).
messages: Ubiquitous.

9606:GAB2
gene id: 9606:GAB2
uniprot id: Q9UQC2
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis.
messages: Belongs to the GAB family.
messages: Cell membrane
messages: Cytoplasm
messages: Dephosphorylated by PTPN11.
messages: Interacts with SHC1; may mediate interaction with receptors (By similarity). Interacts with SYK (By similarity). Interacts with PI-3 kinase. Interacts with GRB2 (via SH3 2 domain). Interacts (phosphorylated) with PTPN11. Interacts with TNFRSF11A (via cytoplasmic domain). Interacts (phosphorylated) with 14-3-3 family proteins SFN, YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ and YWHAZ; prevents interaction with GRB2 and attenuates GAB2 signaling. Interacts with HCK.
messages: Phosphorylated on tyrosine residue(s) by the thrombopoietin receptor (TPOR), stem cell factor receptor (SCFR), and T-cell and B-cell antigen receptors, gp130, IL-2R and IL-3R (By similarity). Phosphorylated upon stimulation of TNFRSF11A/RANK by TNFSF11/RANKL (By similarity). Phosphorylated upon EGF stimulation. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.
messages: The PH domain mediates phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,4-bisphosphate binding.
messages: The SH3-binding motifs mediate interaction with SHC1 and GRB2.

9606:RAB2A
gene id: 9606:RAB2A
uniprot id: P61019
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Endoplasmic reticulum membrane
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: Golgi apparatus membrane
messages: Interacts with PRKCI (PubMed:14570876). Interacts with TRIP11 (PubMed:25473115). Interacts (in GTP-bound form) with GARIN1B (By similarity).
messages: Melanosome
messages: Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.
messages: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between active GTP-bound and inactive GDP-bound states. In their active state, drive transport of vesicular carriers from donor organelles to acceptor organelles to regulate the membrane traffic that maintains organelle identity and morphology. Required for protein transport from the endoplasmic reticulum to the Golgi complex. Regulates the compacted morphology of the Golgi.
messages: acrosome

9606:EGR2
gene id: 9606:EGR2
uniprot id: A0A8I5KYI5
uniprot id: P11161
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylated at Lys-247. May be deacetylated by HDAC6, HDAC10 or SIRT1.
messages: Belongs to the EGR C2H2-type zinc-finger protein family.
messages: E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity.
messages: Interacts with HCFC1 (PubMed:14532282). Interacts with WWP2 (PubMed:19651900). Interacts with UBC9 (PubMed:21836637). Interacts with CITED1 (By similarity). Interacts (via phosphorylated form) with SFN (By similarity).
messages: Nucleus
messages: Sequence-specific DNA-binding transcription factor (PubMed:17717711). Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2 (By similarity). Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres (By similarity). Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells (By similarity). Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons (By similarity). May play a role in adipogenesis, possibly by regulating the expression of CEBPB (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. Patients affected by the amyelinating form carry a causative, homozygous deletion encompassing a myelin-specific enhancer of EGR2 (PubMed:22522483).
messages: Ubiquitinated by WWP2 leading to proteasomal degradation.

9606:POU5F2
gene id: 9606:POU5F2
uniprot id: Q8N7G0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the POU transcription factor family. Class-5 subfamily.
messages: Expressed in skeletal and cardiac muscles, brain, heart and lung. Little or no detectable expression found in pancreas, kidney, liver or placenta.
messages: Nucleus
messages: Transcription factor that binds preferentially to the octamer motif (5'-ATGTTAAT-3'). May exert a regulatory function in meiotic events that are required for terminal differentiation of male germ cell (By similarity).

9606:SLC26A1
gene id: 9606:SLC26A1
uniprot id: Q9H2B4
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
messages: Cell membrane
messages: Expressed most abundantly in the kidney and liver, with lower levels in the pancreas, testis, brain, small intestine, colon, and lung.
messages: Mediates sulfate transport with high affinity (PubMed:12713736). Mediates oxalate transport (PubMed:12713736). Mediates bicarbonate transport (By similarity). Does not accept succinate as cosubstrate (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SLC24A2
gene id: 9606:SLC24A2
uniprot id: Q9UI40
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily.
messages: Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:10662833, PubMed:26631410). Required for learming and memory by regulating neuronal Ca(2+), which is essential for the development of synaptic plasticity (By similarity).
messages: Cell membrane

9606:RHOXF2B
gene id: 9606:RHOXF2B
uniprot id: P0C7M4
names: Caution
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the paired-like homeobox family. PEPP subfamily.
messages: Expressed in testis, mainly expressed in germ cells, but also detected in somatic cells such as Sertoli cells, Leydig cells and peritubular cells.
messages: Nucleus
messages: Predominantly expressed in early stage germ cells, type-B spermatogonia and early spermatocytes.
messages: RHOF2 and RHOF2B are arranged in a head-to-head orientation and share high sequence similarity (>99%). They cannot easily be distinguished and are usually analyzed as a single gene.
messages: Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.

9606:DBI
gene id: 9606:DBI
uniprot id: P07108
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ACBP family.
messages: Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor.
messages: Endoplasmic reticulum
messages: Golgi apparatus
messages: Isoform 1 is ubiquitous, with a moderate expression level. Isoform 2 is ubiquitous with high level in liver and adipose tissue. Isoform 3 is ubiquitous with strong expression in adipose tissue and heart.
messages: Monomer.
messages: Predominantly expressed in adipose tissue and hippocampus.

9606:SPDYE2
gene id: 9606:SPDYE2
uniprot id: I6XC90
uniprot id: Q495Y8
names: Similarity
messages: Belongs to the Speedy/Ringo family.

9606:NLE1
gene id: 9606:NLE1
uniprot id: Q9NVX2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with the pre-60S ribosomal particle. Interacts (via WD repeats) with uL18 (By similarity). Interacts (via UBL domain) with MDN1 (via VWFA/MIDAS domain) (PubMed:26601951).
messages: Belongs to the NLE1/RSA4 family.
messages: Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity).
messages: nucleolus

9606:FAM166A
gene id: 9606:FAM166A
uniprot id: Q6J272
names: Similarity
messages: Belongs to the UPF0605 family.

9606:HYAL4
gene id: 9606:HYAL4
uniprot id: Q2M3T9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyl hydrolase 56 family.
messages: Detected in placenta and skeletal muscle.
messages: Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide.
messages: Membrane

9606:PDPK1
gene id: 9606:PDPK1
uniprot id: O15530
names: Activity Regulation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Appears to be expressed ubiquitously. The Tyr-9 phosphorylated form is markedly increased in diseased tissue compared with normal tissue from lung, liver, colon and breast.
messages: Autophosphorylated; autophosphorylation is inhibited by the apoptotic C-terminus cleavage product of PKN2.
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PDPK1 subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Homodimer in its autoinhibited state. Active as monomer. Interacts with NPRL2, PPARG, PAK1, PTK2B, GRB14, PKN1 (via C-terminus), STRAP and IKKB. The Tyr-9 phosphorylated form interacts with SRC, RASA1 and CRK (via their SH2 domains). Interacts with SGK3 in a phosphorylation-dependent manner. The tyrosine-phosphorylated form interacts with PTPN6. The Ser-241 phosphorylated form interacts with YWHAH and YWHAQ. Binds INSR in response to insulin. Interacts (via PH domain) with SMAD3, SMAD4 and SMAD7. Interacts with PKN2; the interaction stimulates PDPK1 autophosphorylation, its PI(3,4,5)P3-dependent kinase activity toward 'Ser-473' of AKT1 but also activates its kinase activity toward PRKCD and PRKCZ.
messages: Homodimerization regulates its activity by maintaining the kinase in an autoinhibitory conformation. NPRL2 down-regulates its activity by interfering with tyrosine phosphorylation at the Tyr-9, Tyr-373 and Tyr-376 residues. The 14-3-3 protein YWHAQ acts as a negative regulator by association with the residues surrounding the Ser-241 residue. STRAP positively regulates its activity by enhancing its autophosphorylation and by stimulating its dissociation from YWHAQ. SMAD2, SMAD3, SMAD4 and SMAD7 also positively regulate its activity by stimulating its dissociation from YWHAQ. Activated by phosphorylation on Tyr-9, Tyr-373 and Tyr-376 by INSR in response to insulin.
messages: Monoubiquitinated in the kinase domain, deubiquitinated by USP4.
messages: Nucleus
messages: Phosphorylation on Ser-241 in the activation loop is required for full activity. PDPK1 itself can autophosphorylate Ser-241, leading to its own activation. Autophosphorylation is inhibited by the apoptotic C-terminus cleavage product of PKN2 (By similarity). Tyr-9 phosphorylation is critical for stabilization of both PDPK1 and the PDPK1/SRC complex via HSP90-mediated protection of PDPK1 degradation. Angiotensin II stimulates the tyrosine phosphorylation of PDPK1 in vascular smooth muscle in a calcium- and SRC-dependent manner. Phosphorylated on Tyr-9, Tyr-373 and Tyr-376 by INSR in response to insulin. Palmitate negatively regulates autophosphorylation at Ser-241 and palmitate-induced phosphorylation at Ser-529 and Ser-501 by PKC/PRKCQ negatively regulates its ability to phosphorylate PKB/AKT1. Phosphorylation at Thr-354 by MELK partially inhibits kinase activity, the inhibition is cooperatively enhanced by phosphorylation at Ser-394 and Ser-398 by MAP3K5.
messages: Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), protein kinase PKN (PKN1 and PKN2). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage. Negatively regulates the TGF-beta-induced signaling by: modulating the association of SMAD3 and SMAD7 with TGF-beta receptor, phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing the nuclear translocation of SMAD3 and SMAD4 and the translocation of SMAD7 from the nucleus to the cytoplasm in response to TGF-beta. Activates PPARG transcriptional activity and promotes adipocyte differentiation. Activates the NF-kappa-B pathway via phosphorylation of IKKB. The tyrosine phosphorylated form is crucial for the regulation of focal adhesions by angiotensin II. Controls proliferation, survival, and growth of developing pancreatic cells. Participates in the regulation of Ca(2+) entry and Ca(2+)-activated K(+) channels of mast cells. Essential for the motility of vascular endothelial cells (ECs) and is involved in the regulation of their chemotaxis. Plays a critical role in cardiac homeostasis by serving as a dual effector for cell survival and beta-adrenergic response. Plays an important role during thymocyte development by regulating the expression of key nutrient receptors on the surface of pre-T cells and mediating Notch-induced cell growth and proliferative responses. Provides negative …
messages: Stimulated by insulin, and the oxidants hydrogen peroxide and peroxovanadate.
messages: The PH domain plays a pivotal role in the localization and nuclear import of PDPK1 and is also essential for its homodimerization.
messages: The PIF-pocket is a small lobe in the catalytic domain required by the enzyme for the binding to the hydrophobic motif of its substrates. It is an allosteric regulatory site that can accommodate small compounds acting as allosteric inhibitors.
messages: focal adhesion

9606:PYM1
gene id: 9606:PYM1
uniprot id: Q9BRP8
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the pym family.
messages: Cytoplasm
messages: Interacts (via N-terminus) with MAGOH and RBM8A; the interaction is direct. Associates (eIF2A-like region) with the 40S ribosomal subunit and the 48S preinitiation complex.
messages: Key regulator of the exon junction complex (EJC), a multiprotein complex that associates immediately upstream of the exon-exon junction on mRNAs and serves as a positional landmark for the intron exon structure of genes and directs post-transcriptional processes in the cytoplasm such as mRNA export, nonsense-mediated mRNA decay (NMD) or translation. Acts as an EJC disassembly factor, allowing translation-dependent EJC removal and recycling by disrupting mature EJC from spliced mRNAs. Its association with the 40S ribosomal subunit probably prevents a translation-independent disassembly of the EJC from spliced mRNAs, by restricting its activity to mRNAs that have been translated. Interferes with NMD and enhances translation of spliced mRNAs, probably by antagonizing EJC functions. May bind RNA; the relevance of RNA-binding remains unclear in vivo, RNA-binding was detected by PubMed:14968132, while PubMed:19410547 did not detect RNA-binding activity independently of the EJC.
messages: The eIF2A-like region shares sequence similarity with eIF2A and mediates the interaction with the 40S ribosomal subunit and the 48S preinitiation complex.
messages: nucleolus
messages: nucleoplasm

9606:LIN7C
gene id: 9606:LIN7C
uniprot id: Q9NUP9
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Basolateral cell membrane
messages: Belongs to the lin-7 family.
messages: Cell junction
messages: Cell membrane
messages: Forms a complex with CASK and APBA1 or CASKIN1 (By similarity). Component of the brain-specific heterotrimeric complex (LIN-10-LIN-2-LIN-7 complex) composed of at least APBA1, CASK, and LIN7, which associates with the motor protein KIF17 to transport vesicles along microtubules (By similarity). Can also interact with other modular proteins containing protein-protein interaction domains like PALS1, PALS2, MPP7, DLG1, DLG2 and DLG3 through its L27 domain. Interacts with DLG4 and GRIN2B as well as CDH1 and CTNNB1, the channels KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain. The association of LIN7A with cadherin and beta-catenin is calcium-dependent, occurs at synaptic junctions and requires the actin cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains. Associates with KIF17 via APBA1. Interacts with HTR4 (By similarity). Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C). Interacts with MAPK12 (By similarity).
messages: Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity). This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells.
messages: Postsynaptic density membrane
messages: The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and the association of LIN7 to membranes.
messages: The PDZ domain regulates endocytosis and recycling of the receptor at the membrane.
messages: The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane.
messages: tight junction

9606:SAMD9L
gene id: 9606:SAMD9L
uniprot id: Q8IVG5
names: Disease Annotation
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Dubious isoform produced through aberrant splice sites.
messages: Early endosome
messages: Interacts with EEA1.
messages: May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. Germline variants in SAMD9L with a suppressive effect on the cell cycle are associated with somatic loss of the chromosome 7 harboring the mutant allele. This results in the deletion of several genes and predisposes to the development of myelodysplastic syndrome and acute myelogenous leukemia.
messages: Widely expressed in adult and fetal tissues. Expressed in the cerebellum (PubMed:35310830). Variable expression in tumors. Down-regulated in breast cancer.

9606:ARL4A
gene id: 9606:ARL4A
uniprot id: P40617
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the small GTPase superfamily. Arf family.
messages: Cell membrane
messages: Cytoplasm
messages: Interacts with CYTH2. Interacts with KPNA2; the interaction is direct. Does not interacts with ARL4A.
messages: Myristoylated.
messages: Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form.
messages: nucleolus

9606:TRIM22
gene id: 9606:TRIM22
uniprot id: Q8IYM9
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with EMCV protease 3C; this interaction leads to viral protease ubiquitination.
messages: (Microbial infection) Interacts with HIV-1 Gag polyprotein; this interaction seems to reduce gag production or virus budding.
messages: Auto-ubiquitinated.
messages: Belongs to the TRIM/RBCC family.
messages: By interferons alpha and beta. Up-regulated by p53/TP53. Dramatically induced by progesterone in MDA-MB-231-derived ABC28 cells and T47D cells.
messages: Cajal body
messages: Cytoplasm
messages: Homotrimer (PubMed:17156811).
messages: Interferon-induced antiviral protein involved in cell innate immunity. The antiviral activity could in part be mediated by TRIM22-dependent ubiquitination of viral proteins. Plays a role in restricting the replication of HIV-1, encephalomyocarditis virus (EMCV) and hepatitis B virus (HBV). Acts as a transcriptional repressor of HBV core promoter. May have E3 ubiquitin-protein ligase activity.
messages: Nucleus
messages: Nucleus speckle
messages: Strongly expressed in peripheral blood leukocytes, spleen, thymus, and ovary. Expressed at basal levels in other tissues.
messages: The C-terminal SPRY domain is required for the transcriptional suppressor activity, probably by mediating correct nuclear localization. Residues 491-494 are essential for nuclear localization and nuclear bodies formation.
messages: The RING domain is essential for antiviral activity and for TRIM22 nuclear bodies (NB) formation but is not necessary for nuclear localization.

9606:NT5C1B-RDH14
gene id: 9606:NT5C1B-RDH14
uniprot id: Q96P26
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activated by ADP.
messages: Belongs to the 5'-nucleotidase type 3 family.
messages: Catalyzes the hydrolysis of nucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, AMP is the major substrate.
messages: Cytoplasm
messages: Highly expressed in testis, placenta and pancreas. Detected at lower levels in heart, kidney, liver and lung.

9606:HOXC13
gene id: 9606:HOXC13
uniprot id: P31276
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Abd-B homeobox family.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).

9606:CCDC134
gene id: 9606:CCDC134
uniprot id: Q9H6E4
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CCDC134 family.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Expressed in cervical gland, cervical squamous epithelium, endometrium, stomach, kidney distal convoluted tubule, spermatogenic cells in testis, mammary gland, liver and striated muscle (at protein level) (PubMed:18087676, PubMed:23070808). Also detected in placenta (PubMed:18087676). Highest expression in testis relative to other tissues (PubMed:18087676). Detected in T cells and dendritic cells; highly expressed in activated CD8(+) T cells, and also expressed at lower levels in CD4(+) T cells (PubMed:25125657).
messages: In extracellular secreted form, promotes proliferation and activation of CD8(+) T cells, suggesting a cytokine-like function (PubMed:25125657). Enhances cytotoxic anti-tumor activity of CD8(+) T cells (PubMed:25125657). May inhibit ERK and JNK signaling activity (PubMed:18087676, PubMed:23070808). May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling (PubMed:23070808). Has a critical role in the regulation of osteogenesis and bone development (PubMed:32181939).
messages: In the nucleus, enhances stability of the PCAF histone acetyltransferase (HAT) complex member TADA2A and thus promotes PCAF-mediated H3K14 and H4K8 HAT activity. May inhibit TADA2A-mediated TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity. May also promote TADA2A-mediated XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage.
messages: Interacts with TADA2A. Associates with the PCAF complex via TADA2A binding.
messages: Nucleus
messages: O-glycosylated, with additional sialic acid modifications.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry. A recurrent variant in the initiation codon has been found in multiple OI22 patients (PubMed:32181939, PubMed:35019224). The variant results in absence of CCDC134 protein in patient fibroblasts and osteoblasts, increased ERK1/2 phosphorylation, decreased OPN and COL1A1 expression and reduced mineralization (PubMed:32181939).

9606:UGT2B11
gene id: 9606:UGT2B11
uniprot id: O75310
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the UDP-glycosyltransferase family.
messages: Endoplasmic reticulum membrane
messages: Microsome membrane
messages: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.
messages: Widely expressed.

9606:PLEKHG3
gene id: 9606:PLEKHG3
uniprot id: A1L390
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
messages: Intron retention. There are two regions of intron retention within the sequence which cause it to shift frame.
messages: Plays a role in controlling cell polarity and cell motility by selectively binding newly polymerized actin and activating RAC1 and CDC42 to enhance local actin polymerization.
messages: cytoskeleton

9606:NXF2B
gene id: 9606:NXF2B
uniprot id: Q9GZY0
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NXF family.
messages: Cytoplasm
messages: Expressed almost exclusively in testis. Also expressed in several cancers.
messages: Interacts with NXT1, NXT2, E1B-AP5, the REF proteins and with nucleoporins, Nup62, Nup153 and Nup214. Interacts with LUZP4.
messages: Involved in the export of mRNA from the nucleus to the cytoplasm.
messages: The C-terminal fragment, containing the TAP domain (also called UBA-like domain) and part of the NTF2-like domain, named the NPC-binding domain, mediates direct interactions with nucleoporin-FG-repeats and is necessary and sufficient for localization of NXF2 to the nuclear rim.
messages: The NTF2 domain heterodimerizes with NXT1 and NXT2. The formation of NXF1/NXT1 heterodimers is required for NXF2-mediated nuclear mRNA export.
messages: The RNA-binding domain is a non-canonical RNP-type domain.
messages: The leucine-rich repeats and the NTF2-domain are essential for the export of mRNA from the nucleus.
messages: The sequence differs from that shown due to either intron retention or a splicing event.
messages: nucleoplasm

9606:ADH1C
gene id: 9606:ADH1C
uniprot id: P00326
names: Cofactor
names: Function
names: Miscellaneous
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Alcohol dehydrogenase. Exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism.
messages: Belongs to the zinc-containing alcohol dehydrogenase family.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Cytoplasm
messages: Dimer of identical or non-identical chains of class I alcohol dehydrogenase: ADH1A, ADH1B, and ADH1C.
messages: There are 7 different ADH's isozymes in human: three belongs to class-I: ADH1A, ADH1B, and ADH1C, one to class-II: ADH4, one to class-III: ADH5, one to class-IV: ADH7 and one to class-V: ADH6.
messages: Two main alleles are known, ADH3*1 or gamma-1 has Arg-272/Ile-350 while ADH3*2 or gamma-2 has Gln-272/Val-350. ADH3*1 is associated with a fast rate of ethanol oxidation and ADH3*2 with a slow rate.

9606:FMN1
gene id: 9606:FMN1
uniprot id: A0A5F9ZHS8
uniprot id: H0YM30
uniprot id: Q68DA7
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the formin homology family. Cappuccino subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in fetal kidney and fetal lung.
messages: Interacts with alpha-catenin and may interact with tubulin.
messages: Nucleus
messages: Phosphorylated on serine and possibly threonine residues.
messages: Plays a role in the formation of adherens junction and the polymerization of linear actin cables.
messages: adherens junction

9606:ORAI2
gene id: 9606:ORAI2
uniprot id: B4DUB4
uniprot id: Q96SN7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Orai family.
messages: Ca(2+) release-activated Ca(2+)-like (CRAC-like) channel subunit which mediates Ca(2+) influx and increase in Ca(2+)-selective current by synergy with the Ca(2+) sensor, STIM1.
messages: Interacts with CRACR2A/EFCAB4B.
messages: Membrane

9606:SMAGP
gene id: 9606:SMAGP
uniprot id: Q0VAQ4
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SMAGP family.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Detected in breast, endometrium, colon and biliary tract. Detected in polarized epithelial structures characterized by cell-cell adhesion (at protein level).
messages: May play a role in epithelial cell-cell contacts. May play a role in tumor invasiveness and metastasis formation.
messages: O-glycosylated. The O-glycan is modified with sialic acid residues.

9606:ABRAXAS1
gene id: 9606:ABRAXAS1
uniprot id: Q6UWZ7
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the FAM175 family. Abraxas subfamily.
messages: Component of the ARISC complex, at least composed of UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. In the complex, interacts directly with UIMC1/RAP80, BRCC3/BRCC36 and BABAM2. Interacts directly (when phosphorylated at Ser-406) with BRCA1. Homodimer. The homodimer interacts directly (when phosphorylated at Ser-404 and Ser-406) with two BRCA1 chains, giving rise to a heterotetramer. Binds polyubiquitin.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX.
messages: Nucleus
messages: Phosphorylation of Ser-406 of the pSXXF motif by ATM or ATR constitutes a specific recognition motif for the BRCT domain of BRCA1 (PubMed:17643121, PubMed:17525340, PubMed:17643122). Ionizing radiation promotes rapid phosphorylation at Ser-404 and Ser-406 by ATM; this promotes recruitment of BRCA1 to sites of DNA damage (PubMed:26778126).

9606:PAGE2B
gene id: 9606:PAGE2B
uniprot id: Q5JRK9
names: Similarity
messages: Belongs to the GAGE family.

9606:SFRP1
gene id: 9606:SFRP1
uniprot id: Q8N474
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the secreted frizzled-related protein (sFRP) family.
messages: Down-regulated in colorectal and breast tumors. Up-regulated in uterine leiomyomas under high estrogenic conditions. Expression, in leiomyomal cells, also increased both under hypoxic and serum deprivation conditions.
messages: Interacts with WNT1, WNT2 and FRZD6. Interacts with WNT4, WNT8 and MYOC (By similarity).
messages: May have therapeutic use in cardiac surgery.
messages: Secreted
messages: Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metanephroi (By similarity). Inhibits WNT1/WNT4-mediated TCF-dependent transcription.
messages: The FZ domain is involved in binding with Wnt ligands.
messages: Widely expressed. Absent from lung, liver and peripheral blood leukocytes. Highest levels in heart and fetal kidney. Also expressed in testis, ovary, fetal brain and lung, leiomyomal cells, myometrial cells and vascular smooth muscle cells. Expressed in foreskin fibroblasts and in keratinocytes.

9606:RIPPLY2
gene id: 9606:RIPPLY2
uniprot id: Q5TAB7
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ripply family.
messages: Nucleus
messages: Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity).
messages: The WRPW motif is required for binding to tle/groucho proteins.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The ripply homology domain is required for transcriptional repression.

9606:DCAKD
gene id: 9606:DCAKD
uniprot id: Q8WVC6
names: Similarity
messages: Belongs to the CoaE family.

9606:GDE1
gene id: 9606:GDE1
uniprot id: A0A024QYU1
uniprot id: Q9NZC3
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycerophosphoryl diester phosphodiesterase family.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Hydrolyzes the phosphodiester bond of glycerophosphodiesters such as glycerophosphoinositol (GroPIns) and glycerophosphoethanolamine (GroPEth), to yield a glycerol phosphate and an alcohol (By similarity). Hydrolyzes glycerophospho-N-acylethanolamines to N-acylethanolamines in the brain and participates in bioactive N-acylethanolamine biosynthesis such as anandamide (an endocannabinoid), N-palmitoylethanolamine (an anti-inflammatory), and N-oleoylethanolamine (an anorexic). In addition, has a lysophospholipase D activity by hydrolyzing N-acyl-lysoplasmenylethanolamine (N-acyl-lysoPlsEt) to N-acylethanolamine. However lysophospholipase D activity is lower than glycerophosphodiester phosphodiesterase activity (By similarity). Has little or no activity towards glycerophosphocholine (By similarity).
messages: Inhibited by EDTA, calcium chloride, and zinc chloride. Enhanced by magnesium chloride (By similarity). Glycerophosphodiester phosphodiesterase activity can be modulated by G-protein signaling pathways (By similarity).
messages: Interacts with PRAF2 (PubMed:16472945). Interacts with RGS16 (By similarity).
messages: N-glycosylated.
messages: Widely expressed.

9606:SMAD9
gene id: 9606:SMAD9
uniprot id: A0A024RDR3
uniprot id: O15198
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the dwarfin/SMAD family.
messages: Cytoplasm
messages: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.
messages: Interaction with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit. Interacts with RANBP3L (PubMed:25755279).
messages: Nucleus
messages: Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).

9606:CRELD2
gene id: 9606:CRELD2
uniprot id: Q6UXH1
names: Developmental Stage
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CRELD family.
messages: Endoplasmic reticulum
messages: Expressed in all fetal tissues tested.
messages: Interacts with CHRNA4 (PubMed:16238698). Component of a complex containing at least CRELD2, MANF, MATN3 and PDIA4 (By similarity).
messages: Minor isoform.
messages: Protein disulfide isomerase (By similarity). Might play a role in the unfolded protein response (By similarity). May regulate transport of alpha4-beta2 neuronal acetylcholine receptor (PubMed:16238698).
messages: Ubiquitously expressed (PubMed:16238698). Highly expressed in skeletal muscle, heart, liver, kidney and placenta (PubMed:16238698).

9606:GLIS1
gene id: 9606:GLIS1
uniprot id: A0A0D9SEX9
uniprot id: Q8NBF1
names: Biotechnology
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as both a repressor and activator of transcription (PubMed:21654807). Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). By controlling the expression of genes involved in cell differentiation inhibits the lineage commitment of multipotent cells (PubMed:21654807). Prevents, for instance, the differentiation of multipotent mesenchymal cells into adipocyte and osteoblast (By similarity).
messages: Belongs to the GLI C2H2-type zinc-finger protein family.
messages: Interacts with KLF4 (PubMed:21654807). Interacts with POU5F1 and/or POU5F1B (PubMed:21654807). Interacts with SOX2 (PubMed:21654807).
messages: Nucleus
messages: The combined transgenic expression of the OSK transcription factors POU5F1/OCT4, SOX2 and KLF4, reprograms differentiated cells into induced pluripotent stem cells/iSPCs. iPSCs exhibit the morphology and properties of embryonic stem/ES cells. The coexpression of GLIS1 can increase the efficiency of OSK-induced pluripotent stem cells/iPSCs production.

9606:LRRC75A
gene id: 9606:LRRC75A
uniprot id: Q8NAA5
names: Similarity
messages: Belongs to the LRRC75 family.

9606:PRUNE1
gene id: 9606:PRUNE1
uniprot id: Q86TP1
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by magnesium ions and inhibited by manganese ions. Inhibited by dipyridamole, moderately sensitive to IBMX and inhibited by vinpocetine.
messages: Belongs to the PPase class C family. Prune subfamily.
messages: Binds 2 manganese ions per subunit.
messages: Cytoplasm
messages: Homooligomer. Able to homodimerize via its C-terminal domain. Interacts with NME1. Interacts with GSK3; at focal adhesion complexes where paxillin and vinculin are colocalized. Interacts with alpha and beta tubulin (PubMed:28334956).
messages: Nucleus
messages: Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis (PubMed:28334956). Involved in the regulation of microtubule polymerization (PubMed:28334956).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed. Seems to be overexpressed in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas.
messages: focal adhesion

9606:COQ7
gene id: 9606:COQ7
uniprot id: Q99807
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the COQ7 family.
messages: Binds 2 iron ions per subunit.
messages: Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis (By similarity). Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides (By similarity). Involved in lifespan determination in a ubiquinone-independent manner (By similarity). Plays a role in modulating mitochondrial stress responses, acting in the nucleus, perhaps via regulating gene expression, independent of its characterized mitochondrial function in ubiquinone biosynthesis (PubMed:25961505).
messages: Chromosome
messages: Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (By similarity). Interacts with COQ8B and COQ6 (PubMed:24270420). Interacts with COQ9 (PubMed:25339443).
messages: Expressed dominantly in heart and skeletal muscle.
messages: Mitochondrion
messages: Mitochondrion inner membrane
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CHN1
gene id: 9606:CHN1
uniprot id: P15882
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Subunit
names: Tissue Specificity
messages: GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.
messages: In neurons in brain regions that are involved in learning and memory processes.
messages: Increases in amount during brain development coincident with synaptogenesis.
messages: Interacts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation.
messages: Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:GGT7
gene id: 9606:GGT7
uniprot id: A0PJJ9
uniprot id: Q9UJ14
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the gamma-glutamyltransferase family.
messages: Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.
messages: Cleaves the gamma-glutamyl peptide bond of glutathione and glutathione conjugates.
messages: Heterodimer composed of the light and heavy chains. The active site is located in the light chain.
messages: Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors.
messages: Interacts with TLCD3A.
messages: Membrane
messages: Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea.

9606:KAZALD1
gene id: 9606:KAZALD1
uniprot id: Q96I82
names: Function
names: Subcellular Location Annotation
messages: Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity).
messages: extracellular matrix

9606:HSPA9
gene id: 9606:HSPA9
uniprot id: A0A384P5G6
uniprot id: P38646
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the heat shock protein 70 family.
messages: Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). May play a role in the control of cell proliferation and cellular aging (By similarity).
messages: Interacts strongly with the intermediate form of FXN and weakly with its mature form (PubMed:17331979, PubMed:26702583). Interacts with HSCB (PubMed:20668094). Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:22114354). Interacts with DNLZ, the interaction is required to prevent self-aggregation (PubMed:23462535). Interacts with TESPA1 (PubMed:23501103). Interacts with PDPN (PubMed:23541579). Interacts with NFU1, NFS1 and ISCU (PubMed:26702583).
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nucleolus

9606:RGS12
gene id: 9606:RGS12
uniprot id: O14924
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Behaves as a cell cycle-dependent transcriptional repressor, promoting inhibition of S-phase DNA synthesis.
messages: Cytoplasm
messages: Interacts with GNAI1 (PubMed:18434541). Interacts with GNAI2 and GNAI3; the interactions are GDP-dependent (By similarity).
messages: Isoform 3 is brain specific.
messages: Nucleus
messages: Nucleus matrix
messages: Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form.
messages: Synapse
messages: The GoLoco domain is necessary for interaction with GNAI1, GNAI2 and GNAI3.
messages: dendrite

9606:SH3BGRL3
gene id: 9606:SH3BGRL3
uniprot id: Q9H299
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SH3BGR family.
messages: Could act as a modulator of glutaredoxin biological activity (Probable). May play a role in cytoskeleton organization (PubMed:34380438).
messages: Homodimer (By similarity). Interacts with MYO1C (via its IQ motifs); the interaction is dependent on calcium and takes place at membrane ruffles (PubMed:34380438).
messages: May be glycosylated.
messages: Nucleus
messages: Ubiquitous (PubMed:11444877, PubMed:11404387). Expressed in heart, kidney and liver (at protein level) (PubMed:11404387). Expressed in brain, lung, spleen and skeletal muscle (PubMed:11404387).
messages: cytosol
messages: ruffle membrane

9606:DNAJC19
gene id: 9606:DNAJC19
uniprot id: Q96DA6
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TIM14 family.
messages: Interacts with PHB2; the interaction associates DNAJC19 with the prohibitin complex. Interacts with TIMM16/PAM16 (By similarity). May be a component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19 (By similarity).
messages: Mitochondrial co-chaperone which forms a complex with prohibitins to regulate cardiolipin remodeling (By similarity). May be a component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity).
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed.

9606:MS4A6A
gene id: 9606:MS4A6A
uniprot id: A0A024R516
uniprot id: A0A024R554
uniprot id: B4DUN6
uniprot id: E9PSA9
uniprot id: Q9H2W1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the MS4A family.
messages: May be involved in signal transduction as a component of a multimeric receptor complex.
messages: Membrane
messages: Variable expression in some B-cell, myelomonocytic, and erythroleukemia cell lines.

9606:TMEM79
gene id: 9606:TMEM79
uniprot id: Q9BSE2
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity).
messages: Defects in TMEM79 may be associated with susceptibility to atopic dermatitis. Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE-mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee.
messages: Expressed in the epidermis of the skin. Expressed in epithelial cells of the outermost layer of the stratum granulosum (SG) and hair follicles (at protein level).
messages: Lysosome
messages: Membrane
messages: trans-Golgi network

9606:M6PR
gene id: 9606:M6PR
uniprot id: P20645
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
messages: Homodimer. Binds GGA1, GGA2 and GGA3.
messages: Lysosome membrane
messages: The extracellular domain is homologous to the repeating units (of approximately 147 AA) of the cation-independent mannose 6-phosphate receptor.
messages: This receptor has optimal binding in the presence of divalent cations.
messages: Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex.

9606:LCA5
gene id: 9606:LCA5
uniprot id: A0A384MDJ7
uniprot id: Q86VQ0
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the LCA5 family.
messages: Interacts with NINL (PubMed:18826961). Interacts with OFD1 (PubMed:19800048). Interacts with FAM161A (PubMed:22940612). Interacts with components of the IFT complex B (PubMed:21606596).
messages: Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.
messages: centrosome
messages: cilium
messages: cilium axoneme
messages: cilium basal body
messages: cytoskeleton

9606:DDX5
gene id: 9606:DDX5
uniprot id: J3KTA4
uniprot id: P17844
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Arg-502 is dimethylated, probably to asymmetric dimethylarginine.
messages: Belongs to the DEAD box helicase family. DDX5/DBP2 subfamily.
messages: Cytoplasm
messages: DDX5 was reported to be a transcriptional coactivator of ESR1. However, this study has been retracted due to concerns of image manipulation.
messages: Identified in the spliceosome C complex (PubMed:11991638). Component of a ribonucleoprotein complex containing mRNAs and RNA-binding proteins including DDX5, HNRNPH2 and SRSF1 as well as splicing regulator ARVCF (PubMed:24644279). Interacts with RBM4; the interaction occurs in an RNA-independent manner. Interacts with AGO1 and AGO2. Interacts with ESR1, AR, EP300, CREBBP, POLR2A, TP53, RUNX2 and HDAC1. Self-associates. Interacts with DDX17. Interacts with BRDT. The large PER complex involved in the repression of transcriptional termination is composed of at least PER2, CDK9, DDX5, DHX9, NCBP1 and POLR2A (active). Interacts with DHX36; this interaction occurs in a RNA-dependent manner (PubMed:18279852). Interacts with NUPR1 (By similarity). Interacts with ERCC6 (PubMed:26030138). Interacts with DDX3X in the cytoplasm; this interaction may be more efficient when both proteins are unphosphorylated (PubMed:22034099).
messages: Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specific manner; the function probably involves association with histone deacetylases, such as HDAC1. As component of a large PER complex is involved in the inhibition of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms.
messages: Nucleus
messages: Nucleus speckle
messages: Polyubiquitinated, leading to proteasomal degradation.
messages: Sumoylated; sumoylation, promoted by PIAS1, promotes interaction with HDAC1 and transcriptional repression activity. Sumoylation also significantly increases stability, and reduces polyubiquitination.
messages: Weakly phosphorylated in the G1/S phase of the cell cycle and much more at G2/M, especially at Thr and Tyr residues.
messages: nucleolus

9606:SLC9B1
gene id: 9606:SLC9B1
uniprot id: A0A140VJQ1
uniprot id: Q4ZJI4
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
messages: Expressed only in the testis.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Membrane
messages: Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility.
messages: flagellum membrane

9606:NPIPB9
gene id: 9606:NPIPB9
uniprot id: F8W1W9
names: Similarity
messages: Belongs to the NPIP family.

9606:MYO9B
gene id: 9606:MYO9B
uniprot id: B0I1T6
uniprot id: Q13459
uniprot id: Q4LE74
names: Caution
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
messages: Detected in peripheral blood leukocytes (at protein level) (PubMed:9490638). Expressed predominantly in peripheral blood leukocytes and at lower levels, in thymus, spleen, testis, prostate, ovary, brain, small intestine and lung.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Interacts (via IQ domains) with CALM (PubMed:9490638). Interacts with RHOA (PubMed:26529257). Interacts (via Rho-GAP domain) with ROBO1; this inhibits the interaction with RHOA and the stimulation of RHOA GTPase activity, and thereby increases the levels of active RHOA (PubMed:26529257).
messages: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions (PubMed:9490638). Also acts as a GTPase activator for RHOA (PubMed:9490638, PubMed:26529257). Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257).
messages: Represents an unconventional myosin. This protein should not be confused with the conventional myosin-9 (MYH9).
messages: The C-terminal sequence from position 1917 onwards appears to be not correctly spliced.
messages: cell cortex
messages: cytoskeleton
messages: perinuclear region

9606:KRTAP2-2
gene id: 9606:KRTAP2-2
uniprot id: Q9BYT5
names: Function
names: Sequence Caution
names: Similarity
names: Subunit
messages: Belongs to the KRTAP type 2 family.
messages: Chimeric cDNA. The N-terminal part is identical to the product of the KRTAP2-3 gene.
messages: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).
messages: Interacts with hair keratins.

9606:LCN12
gene id: 9606:LCN12
uniprot id: A0A384MDV4
uniprot id: Q6JVE5
uniprot id: Q8IW14
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the calycin superfamily. Lipocalin family.
messages: Binds all-trans retinoic acid and may act as a retinoid carrier protein within the epididymis. May play a role in male fertility (By similarity).
messages: Monomer.
messages: Secreted

9606:SPTBN4
gene id: 9606:SPTBN4
uniprot id: Q9H254
names: Disease Annotation
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the spectrin family.
messages: Expressed in skeletal muscle at the sarcolemma and in the muscle capillaries (at protein level) (PubMed:28540413). Abundantly expressed in brain and pancreatic islets (PubMed:11086001).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cell cortex
messages: cytoskeleton

9606:BBLN
gene id: 9606:BBLN
uniprot id: Q9BUW7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the UPF0184 (EST00098) family.
messages: Cell junction
messages: Essential for intermediate filament organization in intestinal cells, interacts with intermediate filament and regulates intestinal lumen morphology.
messages: cytoskeleton

9606:DLEC1
gene id: 9606:DLEC1
uniprot id: Q9Y238
names: Disease Annotation
names: Function
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development of different cancers, including esophageal (ESCR), renal and lung cancers (LNCR).
messages: Essential for spermatogenesis and male fertility (By similarity). May play an important role in sperm head and tail formation (By similarity). May act as a tumor suppressor by inhibiting cell proliferation.
messages: Expressed in all tissues examined. Expression is highest in prostate and testis.
messages: Interacts with alpha- and beta-tubulin (PubMed:33144677). Interacts with BBS2, BBS4, BBS5, MKKS, TCP1, CCT2, CCT3, CCT4, CCT5 and CCT7 (PubMed:33144677).
messages: Intron retention.
messages: Levels of this splice isoform are increased in cancer cell lines and primary cancers.
messages: Levels of this splice isoform may be increased in cancer cell lines and primary cancers.
messages: The gene represented in this entry may be involved in disease pathogenesis. DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development of lung cancer.
messages: The gene represented in this entry may be involved in disease pathogenesis. DLEC1 silencing due to promoter methylation and aberrant transcription may be implicated in the development of esophageal cancer.

9606:ZNF329
gene id: 9606:ZNF329
uniprot id: Q86UD4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:MT1E
gene id: 9606:MT1E
uniprot id: P04732
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the metallothionein superfamily. Type 1 family.
messages: Class I metallothioneins contain 2 metal-binding domains: four divalent ions are chelated within cluster A of the alpha domain and are coordinated via cysteinyl thiolate bridges to 11 cysteine ligands. Cluster B, the corresponding region within the beta domain, can ligate three divalent ions to 9 cysteines.
messages: Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.
messages: Monomer.

9606:NEBL
gene id: 9606:NEBL
uniprot id: O76041
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundantly expressed in cardiac muscle, but not in skeletal or smooth muscle. Localized to Z-lines in cardiac cells and to dense bodies in nonmuscle cells. Isoform 2 is expressed in non-muscle cells such as in fibroblasts.
messages: Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028).
messages: Cytoplasm
messages: Expressed in non-muscle cells. May be transcribed from an upstream promoter active in non-muscle cells.
messages: Isoform 2 interacts with ZYX (Zyxin) (PubMed:15004028). Interacts (via nebulin repeats 1-5) with DESM (via rod region) (PubMed:27733623).

9606:SLC52A3
gene id: 9606:SLC52A3
uniprot id: Q9NQ40
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride. Riboflavin transport is Na(+)-independent at low pH but significantly reduced by Na(+) depletion under neutral pH conditions.
messages: Apical cell membrane
messages: Belongs to the riboflavin transporter family.
messages: Cell membrane
messages: Cytoplasm
messages: It is uncertain whether Met-1 or Met-5 is the initiator.
messages: Nucleus membrane
messages: Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
messages: Predominantly expressed in testis. Highly expressed in small intestine and prostate.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:IRGM
gene id: 9606:IRGM
uniprot id: A1A4Y4
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TRAFAC class dynamin-like GTPase superfamily. IRG family.
messages: Cell membrane
messages: Depletion of IRGM by siRNA favors mycobacteria survival in macrophages.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Golgi apparatus membrane
messages: Not up-regulated by IFNG/IFN-gamma.
messages: Putative GTPase which is required for clearance of acute protozoan and bacterial infections. Functions in innate immune response probably through regulation of autophagy. May regulate pro-inflammatory cytokine production and prevent endotoxemia upon infection. May also play a role in macrophages adhesion and motility (By similarity).
messages: The G5 motif of the IRG-type G domain is missing because the IRGM protein is truncated in anthropoids.
messages: There is a huge difference in terms of sequence and regulation of expression compared to the mouse ortholog and hence, the function might be slightly different.
messages: Widely expressed (at protein level). Expressed in several tissues including colon, small bowel and peripheral blood leukocytes.
messages: autophagosome membrane
messages: phagocytic cup
messages: phagosome membrane

9606:KCNJ14
gene id: 9606:KCNJ14
uniprot id: Q9UNX9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ14 subfamily.
messages: Expressed preferentially in retina.
messages: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium (By similarity).
messages: Membrane

9606:PDE4A
gene id: 9606:PDE4A
uniprot id: P27815
names: Activity Regulation
names: Cofactor
names: Developmental Stage
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily.
messages: Binds 2 divalent metal cations per subunit (PubMed:17727341, Ref.20). Site 2 has a preference for magnesium and/or manganese ions (By similarity).
messages: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions.
messages: Efficiently hydrolyzes cAMP.
messages: Efficiently hydrolyzes cAMP. The phosphodiesterase activity is not affected by calcium, calmodulin or cyclic GMP (cGMP) levels. Does not hydrolyze cGMP.
messages: Expressed at high levels in the heart and small intestine. It is also found in the brain, kidney, spleen, colon, salivary gland, ovary and peripheral blood lymphocytes.
messages: Expressed in fetal brain.
messages: Expressed in lymphoid cell subsets including CD8-positive T cells and T-helper 2 cells. Expressed in dendritic cells.
messages: Expressed predominantly in skeletal muscle and brain and at lower levels in the testis. Found in specific neuronal subpopulations including cortical pyramidal neurons, horn neurons in the spinal cord and Purkinje cells in cerebellum (at protein level).
messages: Highly expressed in liver, stomach, testis, thyroid and adrenal glands and at a lower extent in placenta, kidney, pancreas, ovary, uterus and skin. Expressed in myeloid cell subsets including dendritic cells, monocytes, macrophages, eosinophils and mast cells. Expressed in natural killer cells. Expressed in bronchial smooth muscle.
messages: Hydrolyzes the second messenger 3',5'-cyclic AMP (cAMP), which is a key regulator of many important physiological processes.
messages: Inhibited by rolipram and cilomilast.
messages: Inhibited by rolipram, cilomilast, Ro 20-1724, roflumilast and denbufylline.
messages: Inhibited by rolipram.
messages: Interacts with LYN (via SH3 domain). Interacts with ARRB2.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Probably represents a non-functional splice isoform.
messages: Membrane
messages: Phosphorylated at Ser-119 by PKA.
messages: Proteolytically cleaved by CASP3.
messages: cytosol
messages: perinuclear region
messages: ruffle membrane

9606:MRPL10
gene id: 9606:MRPL10
uniprot id: Q7Z7H8
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the universal ribosomal protein uL10 family.
messages: Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. uL10m contributes a single cysteine residue to a zinc-binding site with mL66.
messages: Mitochondrion

9606:WIPI1
gene id: 9606:WIPI1
uniprot id: Q5MNZ9
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the WD repeat PROPPIN family.
messages: Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:15602573, PubMed:20114074, PubMed:20484055, PubMed:20639694, PubMed:23088497, PubMed:28561066, PubMed:31271352). Plays an important role in starvation- and calcium-mediated autophagy, as well as in mitophagy (PubMed:28561066). Functions downstream of the ULK1 and PI3-kinases that produce phosphatidylinositol 3-phosphate (PtdIns3P) on membranes of the endoplasmic reticulum once activated (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P), and maybe other phosphoinositides including PtdIns3,5P2 and PtdIns5P, and is recruited to phagophore assembly sites at the endoplasmic reticulum membranes (PubMed:28561066, PubMed:31271352, PubMed:33499712). There, it assists WIPI2 in the recruitment of ATG12-ATG5-ATG16L1, a complex that directly controls the elongation of the nascent autophagosomal membrane (PubMed:28561066). Together with WDR45/WIPI4, promotes ATG2 (ATG2A or ATG2B)-mediated lipid transfer by enhancing ATG2-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes (PubMed:31271352). Involved in xenophagy of Staphylococcus aureus (PubMed:22829830). Invading S.aureus cells become entrapped in autophagosome-like WIPI1 positive vesicles targeted for lysosomal degradation (PubMed:22829830). Also plays a distinct role in controlling the transcription of melanogenic enzymes and melanosome maturation, a process that is distinct from starvation-induced autophagy (PubMed:21317285). May also regulate the trafficking of proteins involved in the mannose-6-phosphate receptor (MPR) recycling pathway (PubMed:15020712).
messages: Endosome
messages: Interacts with androgen receptor (AR) and the estrogen receptors ESR1 and ESR2 (PubMed:15602573). Interacts with WIPI2 (PubMed:28561066). Interacts with WDR45 (PubMed:28561066). Interacts with ATG16L1 (PubMed:28561066). May interact with NUDC (PubMed:28561066).
messages: Preautophagosomal structure membrane
messages: The L/FRRG motif is required for recruitment to PtdIns3P.
messages: The N-terminus might form a beta-propeller domain involved in specific binding to phosphatidylinositol 3,5-bisphosphate (PIP2), leading to the association of the protein to the membrane. Association to the membrane can also occur through binding to phosphatidylinositol 3-monophosphate (PI3P).
messages: Ubiquitously expressed. Highly expressed in skeletal muscle, heart, testis, pancreas and placenta. Highly expressed in G361, Sk-mel-28, Sk-mel-13, WM852 and WM451 cells. Up-regulated in a variety of tumor tissues.
messages: clathrin-coated vesicle
messages: cytoskeleton
messages: trans-Golgi network

9606:KSR1
gene id: 9606:KSR1
uniprot id: Q8IVT5
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Although it belongs to the protein kinase superfamily, the ATP-binding motif VAIK has an arginine instead of a lysine residue suggesting that KSR1 cannot bind ATP and therefore lacks protein kinase activity. However, KSR1 is capable of binding ATP (PubMed:29433126). Has protein kinase activity towards MAP2K1 in the presence of RAF1/c-RAF in vitro (By similarity).
messages: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
messages: Cell membrane
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Homodimer (PubMed:29433126). Heterodimerizes (via N-terminus) with BRAF (via N-terminus) in a MAP2K1/MEK1 or MAP2K2/MEK2-dependent manner (PubMed:29433126). Interacts with MAP2K1/MEK1 and MAP2K2/MEK2 (PubMed:10409742, PubMed:29433126). Binding to MAP2K1/MEK1 releases the intramolecular inhibitory interaction between KSR1 N-terminus and kinase domains which is required for the subsequent RSK1 dimerization with BRAF (PubMed:29433126). Identified in a complex with AKAP13, MAP2K1 and BRAF (By similarity). Interacts with AKAP13 and BRAF (PubMed:21102438). Interacts with RAF and MAPK/ERK, in a Ras-dependent manner (By similarity). Interacts with 14-3-3 proteins including YWHAB (By similarity). Interacts with HSP90AA1/HSP90, YWHAE/14-3-3 and CDC37 (PubMed:10409742, PubMed:29433126). The binding of 14-3-3 proteins to phosphorylated KSR1 prevents the membrane localization (By similarity). Interacts with MARK3/C-TAK1 (PubMed:12941695). Interacts with PPP2R1A and PPP2CA (By similarity). Interacts with isoform 1 of VRK2 (PubMed:20679487).
messages: Membrane
messages: Part of a multiprotein signaling complex which promotes phosphorylation of Raf family members and activation of downstream MAP kinases (By similarity). Independently of its kinase activity, acts as MAP2K1/MEK1 and MAP2K2/MEK2-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1 or MAP2K2/MEK2, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 and/or MAP2K2/MEK2 (PubMed:29433126). Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP (By similarity). Its kinase activity is unsure (By similarity). Some protein kinase activity has been detected in vitro, however the physiological relevance of this activity is unknown (By similarity).
messages: Phosphorylated on Ser-311 and, to a higher extent, on Ser-406 by MARK3. Dephosphorylated on Ser-406 by PPP2CA. In resting cells, phosphorylated KSR1 is cytoplasmic and in stimulated cells, dephosphorylated KSR1 is membrane-associated. Phosphorylated by PKA at Ser-888. Phosphorylation at Ser-888 is required for cAMP-dependent activation of MAPK1 and/or MAPK3 (By similarity).
messages: The N-terminal region mediates interaction with BRAF (PubMed:29433126). Also mediates membrane localization (By similarity).
messages: The protein kinase domain is predicted to be catalytically inactive. The domain is sufficient for KSR1 and KSR1-mediated MAP2K1 and MAP2K2 membrane localization. The domain is required but not sufficient for MAP kinase-mediated inhibition of ELK1 phosphorylation (PubMed:10409742).
messages: ruffle membrane

9606:ASPHD1
gene id: 9606:ASPHD1
uniprot id: Q5U4P2
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
messages: Membrane

9606:TOM1L1
gene id: 9606:TOM1L1
uniprot id: O75674
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TOM1 family.
messages: Cytoplasm
messages: Endosome membrane
messages: Golgi stack
messages: Interacts with FYN, GRB2 and PIK3R1 when phosphorylated. Interacts with LYN.
messages: Membrane
messages: Phosphorylated on tyrosines by FYN and LYN.
messages: Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it is phosphorylated. May promote FYN activation, possibly by disrupting intramolecular SH3-dependent interactions (By similarity).

9606:PCDHA12
gene id: 9606:PCDHA12
uniprot id: Q9UN75
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:XPA
gene id: 9606:XPA
uniprot id: P23025
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ATR-dependent phosphorylation of XPA at Ser-196 is important for cell survival in response to UV damage.
messages: Belongs to the XPA family.
messages: Expressed in various cell lines and in skin fibroblasts.
messages: Interacts with GPN1. Interacts with RPA1 and RPA2; the interaction is direct and associates XPA with the RPA complex. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with HERC2.
messages: Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by HERC2 leading to degradation by the proteasome.

9606:TSPAN15
gene id: 9606:TSPAN15
uniprot id: O95858
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the tetraspanin (TM4SF) family.
messages: Cell membrane
messages: Interacts with ADAM10; the interaction influences ADAM10 substrate specificity.
messages: Late endosome membrane
messages: Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26686862, PubMed:30463011). Promotes ADAM10-mediated cleavage of CDH2 (By similarity). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity (PubMed:26686862).

9606:SCGB2B2
gene id: 9606:SCGB2B2
uniprot id: Q4G0G5
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the secretoglobin family.
messages: Secreted

9606:PPP1R16B
gene id: 9606:PPP1R16B
uniprot id: Q96T49
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Cell membrane
messages: Cell projection
messages: Inhibited by TGFB1 (Probable). Down-regulated by LPS (PubMed:21907835).
messages: Interacts with PPP1CA, PPP1CB and MSN. Interacts (via its fourth ankyrin repeat) with the mature dimeric form of RPSA/LAMR1 (PubMed:16263087, PubMed:18586956). Interacts with EEF1A1 (PubMed:26497934). Interacts with PTEN (PubMed:25007873). Interacts with ECE1 (By similarity).
messages: Nucleus
messages: Phosphorylated by PKA and, after PKA priming, by GSK3B. Phosphorylation by GSK3B reduces its association with PP1C and enhances PP1C activity. Dephosphorylation by its associated PP1C results in enhanced association with PP1C, but reduced PP1C activity (By similarity).
messages: Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function (PubMed:18586956). Involved in the regulation of the PI3K/AKT signaling pathway, angiogenesis and endothelial cell proliferation (PubMed:25007873). Regulates angiogenesis and endothelial cell proliferation through the control of ECE1 dephosphorylation, trafficking and activity (By similarity). Protects the endothelial barrier from lipopolysaccharide (LPS)-induced vascular leakage (By similarity). Involved in the regulation of endothelial cell filopodia extension (By similarity). May be a downstream target for TGF-beta1 signaling cascade in endothelial cells (PubMed:16263087, PubMed:18586956). Involved in PKA-mediated moesin dephosphorylation which is important in EC barrier protection against thrombin stimulation (PubMed:18586956). Promotes the interaction of PPP1CA with RPSA/LAMR1 and in turn facilitates the dephosphorylation of RPSA/LAMR1 (PubMed:16263087). Involved in the dephosphorylation of EEF1A1 (PubMed:26497934).

9606:PPFIA4
gene id: 9606:PPFIA4
uniprot id: A0A8J8YUZ5
uniprot id: B3KN22
uniprot id: B4DIS5
uniprot id: O75335
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the liprin family. Liprin-alpha subfamily.
messages: Cell surface
messages: Cytoplasm
messages: Expressed only in the heart, brain, and skeletal muscle.
messages: Forms homodimers and heterodimers with liprins-alpha and liprins-beta. Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS. Interacts with RIMS1 and RIMS2 (By similarity). Interacts with GIT1 and GIT2 (By similarity). Interacts with GRIP1 (By similarity). Interacts with KIF1A (By similarity).
messages: May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates (By similarity).
messages: The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS (By similarity).

9606:LAPTM4B
gene id: 9606:LAPTM4B
uniprot id: Q86VI4
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the LAPTM4/LAPTM5 transporter family.
messages: Cell membrane
messages: Cell projection
messages: Endomembrane system
messages: Endosome membrane
messages: Homooligomer; upon reaching the lysosomes (PubMed:21224396). Interacts with MCOLN1 (PubMed:21224396). Interacts with NEDD4; may play a role in the lysosomal sorting of LAPTM4B; enhances HGS association with NEDD4; mediates inhibition of EGFR degradation (PubMed:22096579, PubMed:25588945). Interacts with PIP5K1C; promotes SNX5 association with LAPTM4B; kinase activity of PIP5K1C is required; interaction is regulated by phosphatidylinositol 4,5-bisphosphate generated by PIP5K1C (PubMed:25588945). Interacts with HGS; promotes HGS ubiquitination (PubMed:25588945). Interacts with SNX5 (PubMed:25588945). Interacts with SLC3A2 and SLC7A5; recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (PubMed:25998567). Interacts with LRRC32; decreases TGFB1 production in regulatory T cells (PubMed:26126825). Interacts with BECN1; competes with EGFR for LAPTM4B binding; regulates EGFR activity (PubMed:28479384). Interacts with EGFR; positively correlates with EGFR activation (PubMed:28479384).
messages: Late endosome membrane
messages: Lysosome membrane
messages: Probable cloning artifact.
messages: Required for optimal lysosomal function (PubMed:21224396). Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation (PubMed:25588945). Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTORC1 activation (PubMed:25998567). Plays a role as negative regulator of TGFB1 production in regulatory T cells (PubMed:26126825). Binds ceramide and facilitates its exit from late endosome in order to control cell death pathways (PubMed:26280656).
messages: Ubiquitinated by NEDD4.
messages: Undergoes proteolytic cleavage following delivery to the lysosomes.
messages: multivesicular body lumen
messages: multivesicular body membrane

9606:LRSAM1
gene id: 9606:LRSAM1
uniprot id: Q6UWE0
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recognition protein that defends the cytoplasm from invasive pathogens (PubMed:23245322). Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy) (PubMed:23245322, PubMed:25484098).
messages: Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue.
messages: Interacts with TSG101 (PubMed:17556548). Interacts with PHF23 (PubMed:25484098). Interacts with FUS (PubMed:27615052).
messages: The LRR domain is necessary and sufficient for localization to bacterial targets.
messages: The PTAP motifs mediate the binding to UEV domains.
messages: The RING domain is required for ubiquitination.
messages: The coiled coil domains interact with the SB domain of TSG101.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitination promoted by PHF23 leads to proteasomal degradation.

9606:VPS33B
gene id: 9606:VPS33B
uniprot id: A0A0S2Z577
uniprot id: B7Z1N4
uniprot id: F5H008
uniprot id: Q9H267
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Dephosphorylated by M.tuberculosis PtpA, which induces the reduction of host phagolysosome fusion in M.tuberculosis-infected macrophages.
messages: (Microbial infection) Interacts with M.tuberculosis PtpA.
messages: According to PubMed:18474358, it is autophosphorylated. However, it is not related with protein kinases, suggesting it is phosphorylated by another protein.
messages: Belongs to the STXBP/unc-18/SEC1 family.
messages: Early endosome
messages: Endosome membrane
messages: Interacts with RAB11A and VIPAS39. Associates with adaptor protein complex 3 (AP-3), clathrin:AP-3 and clathrin:HGS complexes (PubMed:21411634).
messages: Late endosome membrane
messages: Lysosome membrane
messages: May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages (PubMed:18474358). Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity).
messages: Phosphorylated on tyrosine residues.
messages: Recycling endosome
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous; highly expressed in testis and low expression in the lung.
messages: clathrin-coated vesicle

9606:ZNF791
gene id: 9606:ZNF791
uniprot id: Q3KP31
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:SEMA6A
gene id: 9606:SEMA6A
uniprot id: A0A0A0MQU6
uniprot id: Q9H2E6
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Acts as a receptor for P.sordellii toxin TcsL in the in the vascular endothelium.
messages: (Microbial infection) Interacts with P.sordellii toxin TcsL; semaphorins SEMA6A and SEMA6B constitute the major host receptors for TcsL in the vascular endothelium.
messages: Active as a homodimer or oligomer (By similarity). The SEMA6A homodimer interacts with a PLXNA2 homodimer, giving rise to a heterotetramer (By similarity). Interacts with EVL (PubMed:10993894).
messages: Belongs to the semaphorin family.
messages: Cell membrane
messages: Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.

9606:PTPN6
gene id: 9606:PTPN6
uniprot id: P29350
uniprot id: Q53XS4
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily.
messages: Cytoplasm
messages: Isoform 1 is expressed in hematopoietic cells. Isoform 2 is expressed in non-hematopoietic cells.
messages: Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis.
messages: Monomer. Interacts with MTUS1 (By similarity). Interacts with MILR1 (tyrosine-phosphorylated) (By similarity). Interacts with KIT (By similarity). Interacts with SIRPA/PTPNS1 (PubMed:9712903). Interacts with LILRB1 and LILRB2 (PubMed:9285411, PubMed:9842885). Interacts with LILRB4 (PubMed:9151699, PubMed:16493035). Interacts with FCRL2 and FCRL4 (PubMed:11162587, PubMed:14597715). Interacts with FCRL3 and FCRL6 (tyrosine phosphorylated form) (PubMed:20933011, PubMed:11162587, PubMed:19843936). Interacts with CD84 (PubMed:11414741). Interacts with CD300LF (PubMed:15184070). Interacts with CDK2 (PubMed:21262353). Interacts with KIR2DL1; the interaction is enhanced by ARRB2 (PubMed:18604210). Interacts (via SH2 1 domain) with ROS1; the interaction is direct and promotes ROS1 dephosphorylation (PubMed:11266449). Interacts with EGFR; inhibits EGFR-dependent activation of MAPK/ERK (PubMed:21258366). Interacts with LYN (PubMed:10574931). Interacts with the tyrosine phosphorylated form of PDPK1 (PubMed:19591923). Interacts with CEACAM1 (via cytoplasmic domain); this interaction depends on the monomer/dimer equilibrium and is phosphorylation-dependent (By similarity). Interacts with MPIG6B (via ITIM motif) (PubMed:23112346). Interacts with moesin/MSN. Interacts with CLEC12B (via ITIM motif).
messages: Nucleus
messages: Phosphorylated on tyrosine residues. Binding of KITLG/SCF to KIT increases tyrosine phosphorylation (By similarity). Phosphorylation at Tyr-564 enhances phosphatase activity.
messages: The N-terminal SH2 domain functions as an auto-inhibitory domain, blocking the catalytic domain in the ligand-free close conformation.

9606:RNASE3
gene id: 9606:RNASE3
uniprot id: P12724
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the pancreatic ribonuclease family.
messages: Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity, including cytoplasmic membrane depolarization of preferentially Gram-negative, but also Gram-positive strains. Promotes E.coli outer membrane detachment, alteration of the overall cell shape and partial loss of cell content.
messages: Interacts with bacterial lipopolysaccharide (LPS) and lipoteichoic acid (LTA). In vitro interacts with and insert into lipid bilayers composed of dioleoyl phosphatidylcholine and dioleoyl phosphatidylglycerol. In vitro, tends to form amyloid-like aggregates at pH 3, but not at pH 5, nor 7.
messages: Secreted

9606:RUFY1
gene id: 9606:RUFY1
uniprot id: Q96T51
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking.
messages: Broadly expressed, with highest levels in lung, testis, kidney and brain.
messages: Cytoplasm
messages: Early endosome membrane
messages: Interacts with BMX. May interact with SSB. Interacts with RAB4 and RAB5 that have been activated by GTP-binding.
messages: Phosphorylation on Tyr-389 and/or Tyr-400 is required for interaction with BMX and endosomal targeting.
messages: The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions.

9606:FBXL15
gene id: 9606:FBXL15
uniprot id: Q9H469
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the FBXL15 family.
messages: Cytoplasm
messages: Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXL15) composed of CUL1, SKP1, RBX1 and FBXL15.
messages: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SMURF1, thereby acting as a positive regulator of the BMP signaling pathway. Required for dorsal/ventral pattern formation and bone mass maintenance. Also mediates ubiquitination of SMURF2 and WWP2.

9606:DOCK9
gene id: 9606:DOCK9
uniprot id: A0A0A0MT38
uniprot id: A6H8Z6
uniprot id: B3KXE2
uniprot id: B7Z2G6
uniprot id: B9EG73
uniprot id: Q9BZ29
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: 'Zizim' means 'spike' in Hebrew.
messages: Belongs to the DOCK family.
messages: Endomembrane system
messages: Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation.
messages: Homodimer (Probable). Interacts preferentially with nucleotide-depleted CDC42.
messages: Produced by exon skipping that results in a frameshift.
messages: The DOCKER domain is necessary and sufficient for the GEF activity.
messages: Widely expressed, with highest expression in heart and placenta. Expressed at intermediate level in kidney, brain, lung and skeletal muscle.

9606:AHCYL2
gene id: 9606:AHCYL2
uniprot id: Q96HN2
names: Cofactor
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the adenosylhomocysteinase family.
messages: Binds 1 NAD(+) per subunit.
messages: Cytoplasm
messages: Homotetramer (Probable). Forms heteromultimers with AHCYL1 (via the C-terminal region) (PubMed:19220705). Interacts with ITPR1; with lower affinity than AHCYL1 and maybe via ITPR1 (PubMed:19220705). Interacts with SLC4A4 (By similarity). Interacts with ZCCHC4 (PubMed:31799605).
messages: May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705).
messages: Microsome
messages: Phosphorylated during neuronal differentiation at the LISN domain.

9606:CREB1
gene id: 9606:CREB1
uniprot id: B7Z5C6
uniprot id: P16220
uniprot id: Q53X93
uniprot id: Q5U0J5
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HTLV-1 protein Tax.
messages: (Microbial infection) Interacts with hepatitis B virus/HBV protein X.
messages: A CREB1 mutation has been found in a patient with multiple congenital anomalies consisting of agenesis of the corpus callosum, cerebellar hypoplasia, severe neonatal respiratory distress refractory to surfactant, thymus hypoplasia, and thyroid follicular hypoplasia.
messages: Belongs to the bZIP family.
messages: Highly expressed in adult testis and sperm.
messages: Interacts with PPRC1. Binds DNA as a dimer. This dimer is stabilized by magnesium ions. Interacts, through the bZIP domain, with the coactivators TORC1/CRTC1, TORC2/CRTC2 and TORC3/CRTC3. When phosphorylated on Ser-119, binds CREBBP (By similarity). Interacts with CREBL2; regulates CREB1 phosphorylation, stability and transcriptional activity (By similarity). Interacts (phosphorylated form) with TOX3. Interacts with ARRB1. Binds to HIPK2. Interacts with SGK1. Interacts with TSSK4; this interaction facilitates phosphorylation on Ser-119 (PubMed:15964553). Forms a complex with KMT2A and CREBBP (PubMed:23651431, PubMed:14506290, PubMed:14536081, PubMed:15454081, PubMed:15733869, PubMed:15964553, PubMed:16325578, PubMed:16908542, PubMed:20573984, PubMed:21172805) (By similarity). Interacts with TOX4; CREB1 is required for full induction of TOX4-dependent activity and the interaction is increased by cAMP and inhibited by insulin (By similarity).
messages: Nucleus
messages: Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-119 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells.
messages: Stimulated by phosphorylation. Phosphorylation of both Ser-119 and Ser-128 in the SCN regulates the activity of CREB and participates in circadian rhythm generation. Phosphorylation of Ser-119 allows CREBBP binding. In liver, phosphorylation is induced by fasting or glucagon in a circadian fashion (By similarity). CREBL2 positively regulates phosphorylation at Ser-119 thereby stimulating CREB1 transcriptional activity (By similarity). Phosphorylated upon calcium influx by CaMK4 and CaMK2 on Ser-119. CaMK4 is much more potent than CaMK2 in activating CREB. Phosphorylated by CaMK2 on Ser-128. Phosphorylation of Ser-128 blocks CREB-mediated transcription even when Ser-119 is phosphorylated. Phosphorylated by CaMK1 (By similarity). Phosphorylation of Ser-257 by HIPK2 in response to genotoxic stress promotes CREB1 activity, facilitating the recruitment of the coactivator CBP. Phosphorylated at Ser-119 by RPS6KA3, RPS6KA4 and RPS6KA5 in response to mitogenic or stress stimuli. Phosphorylated by TSSK4 on Ser-119 (PubMed:15964553).
messages: Sumoylated with SUMO1. Sumoylation on Lys-290, but not on Lys-271, is required for nuclear localization of this protein. Sumoylation is enhanced under hypoxia, promoting nuclear localization and stabilization.
messages: The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving CREB1 is found in a patient with angiomatoid fibrous histiocytoma. Translocation t(2;22)(q33;q12) with CREB1 generates a EWSR1/CREB1 fusion gene that is most common genetic abnormality in this tumor type.

9606:NEXN
gene id: 9606:NEXN
uniprot id: Q0ZGT2
names: Disease Annotation
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Interacts with F-actin.
messages: Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Z line
messages: adherens junction
messages: cytoskeleton

9606:BVES
gene id: 9606:BVES
uniprot id: Q8NE79
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the popeye family.
messages: Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364). Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury.
messages: Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle.
messages: Homodimer. Homodimerization requires the C-terminus cytoplasmic region. Interacts (via the C-terminus cytoplasmic tail) with TJP1. Interacts (via the C-terminus cytoplasmic tail) with ARHGEF25/GEFT (via the DH domain). Interacts (via the C-terminus cytoplasmic tail) with VAMP3 (By similarity). Interacts with KCNK2; the interaction enhances KCNK2 surface expression and is inhibited by cAMP (By similarity) (PubMed:26642364). Interacts with CAV3 (By similarity).
messages: Lateral cell membrane
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: caveola
messages: sarcolemma
messages: tight junction

9606:STK38
gene id: 9606:STK38
uniprot id: A0A024RD18
uniprot id: Q15208
names: Activity Regulation
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by binding of S100B which releases autoinhibitory N-lobe interactions, enabling ATP to bind and the autophosphorylation of Ser-281. Thr-444 then undergoes calcium-dependent phosphorylation by STK24/MST3. Interactions between phosphorylated Thr-444 and the N-lobe promote additional structural changes that complete the activation of the kinase. Autoinhibition is also released by the binding of MOB1/MOBKL1A and MOB2/HCCA2 to the N-terminal of STK38.
messages: Belongs to the protein kinase superfamily.
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
messages: Cytoplasm
messages: Homodimeric S100B binds two molecules of STK38 (PubMed:14661952). Interacts with MOB1 and MOB2 (PubMed:15067004, PubMed:15197186). Interacts with MAP3K1 and MAP3K2 (via the kinase catalytic domain) (PubMed:17906693). Forms a tripartite complex with MOBKL1B and STK3/MST2 (PubMed:18362890). Interacts with MICAL1; leading to inhibit the protein kinase activity by antagonizing activation by MST1/STK4 (By similarity).
messages: ISGylated.
messages: Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2.
messages: Nucleus
messages: Phosphorylated by STK3/MST2 and this is enhanced by MOBKL1B.
messages: Ubiquitously expressed with highest levels observed in peripheral blood leukocytes.
messages: Was originally thought to be part of the MLL5-L complex, at least composed of KMT2E, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT (PubMed:19377461). However, the corresponding article has been retracted (PubMed:24336203).

9606:PRSS55
gene id: 9606:PRSS55
uniprot id: Q6UWB4
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S1 family.
messages: Cell membrane
messages: Controversial data exist concerning the topology of PRSS55. One study in mouse shows that PRS55 is a GPI-anchored protein (By similarity). An other study does not confirm the GPI-anchor status of PRSS55 (PubMed:18844450). However as a GPI-anchor motif is detected, the possibility of a GPI-anchor instead of a single-pass type I membrane protein is probable.
messages: Only detected in testis. Expressed in spermatogonia, spermatocytes, spermatids, Leydig and Sertoli cells. Expressed in prostate cancer and ovarian cancer (at protein level).
messages: Probable serine protease, which plays a crucial role in the fertility of male mice including sperm migration and sperm-egg interaction.
messages: cytosol

9606:CISD1
gene id: 9606:CISD1
uniprot id: Q9NZ45
names: Cofactor
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CISD protein family.
messages: Binds 1 [2Fe-2S] cluster per subunit. The [2Fe-2S] cluster is redox-active and pH labile and is significantly less stable at pH 4.5 as compared with pH 7.0.
messages: Binds pioglitazone, an anti-diabetes drug. Binding increases the stability of the 2Fe-2S cluster.
messages: Expression is down-regulated by glibenclamide and 5-[(4-carboxyphenyl)methylene]-2-thioxo-3-(3-trifluoromethyl)phenyl-4-thiazolidinone (CFTR(inh)172), and up-regulated by cAMP/isoproterenol/IBMX, components that inhibit and stimulate chloride transport activity respectively.
messages: Expression is reduced in cells derived from cystic fibrosis patients.
messages: Homodimer.
messages: Mitochondrion outer membrane
messages: Plays a key role in regulating maximal capacity for electron transport and oxidative phosphorylation (By similarity). May be involved in Fe-S cluster shuttling and/or in redox reactions.
messages: Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.

9606:ERAP2
gene id: 9606:ERAP2
uniprot id: B2R769
uniprot id: Q6P179
names: Cofactor
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Preferentially hydrolyzes the basic residues Arg and Lys.
messages: Belongs to the peptidase M1 family.
messages: Binds 1 zinc ion per subunit.
messages: By IFNG/IFN-gamma.
messages: Defects in the expression of this gene may cause improper antigen processing, possibly leading to favor tumor escape from the immune surveillance.
messages: Endoplasmic reticulum membrane
messages: Heterodimer with ERAP1.
messages: N-glycosylated.
messages: Ubiquitously expressed. Highly expressed in spleen and leukocytes.

9606:DMTF1
gene id: 9606:DMTF1
uniprot id: D6W5P0
uniprot id: Q9Y222
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DMTF1 family.
messages: Expressed at relatively low levels in colonic mucosa, ovary, peripheral leukocytes, prostate and small intestine, and at higher levels in spleen, testis and thymus. Expressed in multiple regions of the brain and CNS including amygdala, caudate, corpus callosum, hippocampus, substantia nigra and subthalamic nucleus. Isoform 1 is the predominant isoform in monocytes, macrophages and neutrophils, isoform 2 is most strongly expressed in peripheral blood leukocytes and quiescent CD34 positive cells, and isoform 3 is expressed at low levels in all hematopoietic cell types. Expression is frequently reduced in non-small-cell lung carcinomas (NSCLC) due to hemizygous gene deletion, strongly suggesting that this locus is haploinsufficient for tumor suppression. Loss of this locus frequently occurs in tumors which retain wild-type CDKN2A/ARF and p53/TP53 loci. Hemizygous gene deletion has also been observed in leukemic blasts from patients with abnormalities of the long arm of chromosome 7.
messages: Interacts with the D-type cyclins CCND1, CCND2 and CCND3. Interaction with D-type cyclins may modulate transcriptional activation by this protein.
messages: Isoform 2 expression is down-regulated during myeloid differentiation, while the expression of isoform 1 and isoform 3 remain constant.
messages: Nucleus
messages: Phosphorylated by the cyclin-D2/CDK4, cyclin-D3/CDK4 and cyclin-D2/CDK6 complexes and to a lesser extent by the cyclin-D1/CDK4 complex.
messages: Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1.

9606:TAPBP
gene id: 9606:TAPBP
uniprot id: O15533
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Polymorphism
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Due to a partial intron retention.
messages: Endoplasmic reticulum membrane
messages: Heterodimer with PDIA3; disulfide-linked. Obligatory mediator for the interaction between newly assembled MHC class I molecules, calreticulin, PDIA3 and TAP. Up to 4 MHC class I/tapasin complexes bind to 1 TAP (PubMed:19119025, PubMed:21263072, PubMed:26611325). Interacts with HLA-G-B2M complex; this interaction is required for loading of high affinity peptides.
messages: Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading).
messages: Neutrophils, mostly in fully differentiated cells.
messages: Probable cloning artifact.
messages: The 2 alleles of TAPBP; TAPBP*01 (Tapasin*01) (shown here) and TAPBP*02 (Tapasin*02); are in linkage disequilibria with the HLA-DRB1 locus in a Japanese population.
messages: The N-terminus is required for efficient association with MHC class I molecule and for a stable interaction between MHC I and calreticulin. Binding to TAP is mediated by the C-terminal region.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:OR1A1
gene id: 9606:OR1A1
uniprot id: A0A126GWA2
uniprot id: Q9P1Q5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:NPC2
gene id: 9606:NPC2
uniprot id: A0A024R6C0
uniprot id: P61916
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NPC2 family.
messages: Binds cholesterol in a hydrophobic pocket; there are no hydrogen bonds between the sterol and the protein.
messages: Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis.
messages: Down-regulated in response to enterovirus 71 (EV71) infection.
messages: Endoplasmic reticulum
messages: Interacts with NPC1 (via the second lumenal domain) in a cholestrol-dependent manner (PubMed:18772377, PubMed:27238017, PubMed:27551080). Interacts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking (PubMed:19723497). Interacts with DHDDS (PubMed:15110773). Interacts with NEDD4L (via C2 domain) (PubMed:19664597). Interacts with NPC1L1 (PubMed:22095670).
messages: Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:17018531, PubMed:11125141, PubMed:18772377, PubMed:29580834, PubMed:15937921). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:17018531, PubMed:18772377, PubMed:27238017). May bind and mobilize cholesterol that is associated with membranes (PubMed:18823126). NPC2 binds cholesterol with a 1:1 stoichiometry (PubMed:17018531). Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (PubMed:17018531). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity).
messages: Lysosome
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CDY1B
gene id: 9606:CDY1B
uniprot id: Q9Y6F8
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Has histone acetyltransferase activity, with a preference for histone H4.
messages: Interacts (via chromo domain) with histone H3K9me3.
messages: Nucleus
messages: Testis-specific. Detected in spermatids (at protein level).

9606:PPP4R4
gene id: 9606:PPP4R4
uniprot id: Q6NUP7
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Putative regulatory subunit of serine/threonine-protein phosphatase 4.
messages: Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or more regulatory subunits. Component of the PP4 complex PPP4C-PPP4R4.

9606:HENMT1
gene id: 9606:HENMT1
uniprot id: Q5T8I9
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the methyltransferase superfamily. HEN1 family.
messages: Binds 1 Mg(2+) ion per subunit.
messages: Cytoplasm
messages: Methyltransferase that adds a 2'-O-methyl group at the 3'-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. This probably protects the 3'-end of piRNAs from uridylation activity and subsequent degradation. Stabilization of piRNAs is essential for gametogenesis.

9606:RPS19BP1
gene id: 9606:RPS19BP1
uniprot id: A0A024R1T1
uniprot id: Q86WX3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the AROS family.
messages: Citrullinated by PADI4.
messages: Direct regulator of SIRT1. Enhances SIRT1-mediated deacetylation of p53/TP53, thereby participating in inhibition of p53/TP53-mediated transcriptional activity.
messages: Interacts with RPS19 (By similarity). Interacts with SIRT1.
messages: Widely expressed (at protein level).
messages: nucleolus

9606:WSB1
gene id: 9606:WSB1
uniprot id: Q9Y6I7
names: Domain
names: Function
names: Subunit
messages: Interacts with DIO2. Component of the probable ECS(WSB1) E3 ubiquitin ligase complex which contains CUL5, RNF7/RBX2, Elongin BC complex and WSB1. Component of a probable ECS-like E3 ubiquitin-protein ligase complex which contains CUL5, RBX1, Elongin BC complex and WSB1. Interacts with CUL5, RNF7, ELOB and ELOC. Binds to HIPK2 through WD40 repeats.
messages: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.

9606:RBPMS2
gene id: 9606:RBPMS2
uniprot id: Q6ZRY4
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Homodimer (PubMed:25064856). Interacts with EEF2 (PubMed:25064856).
messages: RNA-binding protein involved in the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system (PubMed:25064856). Binds NOG mRNA, the major inhibitor of the bone morphogenetic protein (BMP) pathway. Mediates an increase of NOG mRNA levels, thereby contributing to the negative regulation of BMP signaling pathway and promoting reversible dedifferentiation and proliferation of smooth muscle cells (By similarity).

9606:DNAJC1
gene id: 9606:DNAJC1
uniprot id: Q96KC8
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Endoplasmic reticulum membrane
messages: Interacts (via J domain) with HSPA5. Interacts (via cytosolic domain) with ribosomes (By similarity). Interacts (via SANT 2 domain) with SERPINA3; the interaction delays the formation of the covalent inhibitory complex SERPINA3-chymotrypsin, but does not alter the catalytic activity of SERPINA3. Interacts (via SANT 2 domain) with ITIH4 (via C-terminus); the interaction protects ITIH4 against in vitro cleavage by kallikrein.
messages: May modulate protein synthesis.
messages: Microsome membrane
messages: Nucleus membrane

9606:TIMM29
gene id: 9606:TIMM29
uniprot id: Q9BSF4
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40.
messages: Component of the TIM22 complex, which core is composed of TIMM22, associated with TIMM10 (TIMM10A and/or TIMM10B), TIMM9, AGK and TIMM29 (PubMed:27554484, PubMed:27718247, PubMed:28712724, PubMed:28712726). Interacts with TIMM10B; the interaction is direct (PubMed:27554484). Interacts with TOMM40; linking the TIM22 complex to the TOM complex (PubMed:27554484). Interacts with TIMM22 (when oxidized); the interaction is direct (PubMed:27718247).
messages: Mitochondrion inner membrane

9606:IFITM10
gene id: 9606:IFITM10
uniprot id: A6NMD0
names: Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CD225/Dispanin family.
messages: Cell membrane
messages: It is uncertain whether Met-1 or Met-99 is the initiator.

9606:OR4K2
gene id: 9606:OR4K2
uniprot id: A0A126GVP5
uniprot id: Q8NGD2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:NCKIPSD
gene id: 9606:NCKIPSD
uniprot id: Q9NZQ3
names: Disease Annotation
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving NCKIPSD/AF3p21 is found in therapy-related leukemia. Translocation t(3;11)(p21;q23) with KMT2A/MLL1.
messages: Associates with the intermediate filaments, vimentin and desmin. Binds the first and third SH3 domains of NCK. Binds the proline-rich domains of N-WASP through its SH3 domain (By similarity). Similarly, binds diaphanous protein homolog 1 (DRF1). Binds the SH3 domains of GRB2 through its proline-rich domains. Interacts with Helicobacter pylori toxin vacA. Isoform 4 interacts with FHOD1. Interacts with FASLG. Interacts with TMIGD2.
messages: Found in a brain affected by Alzheimer disease. May be due to intron retention.
messages: Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion. Plays a role in angiogenesis.
messages: Highest expression in heart, brain, skeletal muscle, kidney and liver. Lower levels in placenta, lung, small intestine and leukocytes. Weak expression in colon, thymus and spleen.
messages: Nucleus

9606:TTC14
gene id: 9606:TTC14
uniprot id: Q96N46
names: Miscellaneous
names: Similarity
messages: Belongs to the TTC14 family.
messages: May be due to a competing donor splice site.

9606:HTR5A
gene id: 9606:HTR5A
uniprot id: A4D2N2
uniprot id: P47898
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins.

9606:TRMT2B
gene id: 9606:TRMT2B
uniprot id: A0A024RCF5
uniprot id: Q96GJ1
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Mitochondrial S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine in tRNAs and 12S rRNA (PubMed:31948311, PubMed:34556860). Catalyzes the methylation of uridine at position 54 (m5U54) in all tRNAs (PubMed:31948311). Specifically methylates the uridine in position 429 of 12S rRNA (m5U429) (PubMed:31948311). Does not affect RNA stability or mitochondrial translation (PubMed:31948311).
messages: Mitochondrion

9606:DGKQ
gene id: 9606:DGKQ
uniprot id: A0A140VKC1
uniprot id: P52824
uniprot id: Q59FF7
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Activated by phosphatidylserine.
messages: Belongs to the eukaryotic diacylglycerol kinase family.
messages: Cell membrane
messages: Cytoplasm
messages: Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:9099683, PubMed:11309392, PubMed:22627129). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:11309392, PubMed:17664281, PubMed:26748701). Within the adrenocorticotropic hormone signaling pathway, produces phosphatidic acid which in turn activates NR5A1 and subsequent steroidogenic gene transcription (PubMed:17664281). Also functions downstream of the nerve growth factor signaling pathway being specifically activated in the nucleus by the growth factor (By similarity). Through its diacylglycerol activity also regulates synaptic vesicle endocytosis (PubMed:26748701).
messages: Interacts with RHOA (constitutively activated, GTP-bound); the interaction inhibits DGKQ (PubMed:11309392, PubMed:15164764). Interacts with PRKCE (PubMed:15632189). Interacts with PRKCH (PubMed:15632189). Interacts with PLCB1 (PubMed:12799190). Interacts with NR5A1; the interaction requires both LXXLL motifs in DGKQ and is required for full phosphatidic acid-mediated activation of NR5A1 (PubMed:17664281).
messages: Nucleus
messages: Nucleus matrix
messages: Nucleus speckle
messages: Phosphorylated by PRKCE and PRKCH in vitro.
messages: Synapse
messages: The L-X-X-L-L repeats are both required for binding and phosphatidic acid-mediated activation of the nuclear receptor NR5A1.
messages: cytoskeleton
messages: cytosol

9606:RAVER1
gene id: 9606:RAVER1
uniprot id: Q8IY67
names: Function
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Cooperates with PTBP1 to modulate regulated alternative splicing events. Promotes exon skipping. Cooperates with PTBP1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA (By similarity).
messages: Cytoplasm
messages: Interacts with PTBP1, RAVER2, VCL and ACTN1. Part of a complex containing RAVER1, VCL and ACTN1 (By similarity).
messages: Intron retention.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus
messages: Probable cloning artifact.

9606:DPYSL4
gene id: 9606:DPYSL4
uniprot id: O14531
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family.
messages: Cytoplasm
messages: Homotetramer, and heterotetramer with CRMP1, DPYSL2, DPYSL3 or DPYSL5 (By similarity). Interacts with PLEXA1 (By similarity). Interacts with FLNA (PubMed:25358863).
messages: Lacks most of the conserved residues that are essential for binding the metal cofactor and hence for dihydropyrimidinase activity. Its enzyme activity is therefore unsure.
messages: Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity).

9606:CHTF18
gene id: 9606:CHTF18
uniprot id: Q8WVB6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the activator 1 small subunits family. CTF18 subfamily.
messages: Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated by the presence of primed DNA, replication protein A (RPA) and by proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. Interacts with and stimulates DNA polymerase POLH. During DNA repair synthesis, involved in loading DNA polymerase POLE at the sites of local damage (PubMed:20227374).
messages: Component of the CTF18-RFC complex, which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5 (PubMed:12766176, PubMed:12930902). During assembly of the CTF18-RFC complex, CTF18 may first assemble into a subcomplex with RFC2, RFC3, RFC4 and RFC5. CTF18 then interacts directly with CTF8, which in turn interacts with DCC1 (PubMed:12766176, PubMed:12930902). The CTF18-RFC complex associates with PCNA and with DNA polymerase POLH (PubMed:12766176, PubMed:17545166). The CTF18-RFC complex does not interact with the Rad9/Rad1/Hus1 complex (PubMed:12766176). CTF18 interacts with SMC1A and RAD21 (PubMed:12930902). Interacts with DDX11 (PubMed:18499658).
messages: Nucleus

9606:TXLNB
gene id: 9606:TXLNB
uniprot id: H0UI60
uniprot id: Q8N3L3
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the taxilin family.
messages: Binds to the C-terminal coiled coil region of syntaxin family members STX1A, STX3A and STX4A. Has a preference for STX1A.
messages: Expressed in skeletal muscle.
messages: Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic.

9606:LAIR2
gene id: 9606:LAIR2
uniprot id: Q6ISS4
names: Subcellular Location Annotation
messages: Secreted

9606:B4GALT1
gene id: 9606:B4GALT1
uniprot id: P15291
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 7 family.
messages: Cell membrane
messages: Cell surface
messages: Golgi stack membrane
messages: Homodimer; and heterodimer with alpha-lactalbumin to form lactose synthase. Interacts (via N-terminal cytoplasmic domain) with UBE2Q1 (via N-terminus); the interaction is direct (By similarity).
messages: Secreted
messages: The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.
messages: The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The soluble form derives from the membrane forms by proteolytic processing.
messages: Ubiquitously expressed, but at very low levels in fetal and adult brain.
messages: filopodium

9606:TSR1
gene id: 9606:TSR1
uniprot id: Q2NL82
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. TSR1 subfamily.
messages: Required during maturation of the 40S ribosomal subunit in the nucleolus.
messages: nucleolus

9606:HPCAL1
gene id: 9606:HPCAL1
uniprot id: P37235
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the recoverin family.
messages: May be involved in the calcium-dependent regulation of rhodopsin phosphorylation.
messages: Membrane
messages: Probably binds two or three calcium ions.

9606:FGD3
gene id: 9606:FGD3
uniprot id: A0A024R252
uniprot id: A8K9G1
uniprot id: Q5JSP0
names: Function
names: Subcellular Location Annotation
messages: Cytoplasm
messages: Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape (By similarity).
messages: cytoskeleton

9606:MAN2A1
gene id: 9606:MAN2A1
uniprot id: Q16706
names: Cofactor
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glycosyl hydrolase 38 family.
messages: Binds 1 zinc ion per subunit.
messages: Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway.
messages: Glycosylated.
messages: Golgi apparatus membrane
messages: Homodimer; disulfide-linked.

9606:ATP5ME
gene id: 9606:ATP5ME
uniprot id: P56385
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ATPase e subunit family.
messages: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MK and ATP5MJ (By similarity).
messages: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane.
messages: Mitochondrion
messages: Mitochondrion inner membrane

9606:GPR174
gene id: 9606:GPR174
uniprot id: Q9BXC1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Putative receptor for purines coupled to G-proteins.

9606:HDAC2
gene id: 9606:HDAC2
uniprot id: Q92769
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the histone deacetylase family. HD type 1 subfamily.
messages: Cytoplasm
messages: Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:28497810). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (By similarity). Histone deacetylases act via the formation of large multiprotein complexes (By similarity). Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR (PubMed:12724404). Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development (By similarity). Also deacetylates non-histone targets: deacetylates TSHZ3, thereby regulating its transcriptional repressor activity (PubMed:19343227). May be involved in the transcriptional repression of circadian target genes, such as PER1, mediated by CRY1 through histone deacetylation (By similarity). Involved in MTA1-mediated transcriptional corepression of TFF1 and CDKN1A (PubMed:21965678). In addition to protein deacetylase activity, also acts as protein-lysine deacylase by recognizing other acyl groups: catalyzes removal of (2E)-butenoyl (crotonyl) and 2-hydroxyisobutanoyl (2-hydroxyisobutyryl) acyl groups from lysine residues, leading to protein decrotonylation and de-2-hydroxyisobutyrylation, respectively (PubMed:28497810, PubMed:29192674).
messages: Nucleus
messages: Part of the core histone deacetylase (HDAC) complex composed of HDAC1, HDAC2, RBBP4 and RBBP7 (PubMed:10904264). The core complex associates with MTA2, MBD3, MTA1L1, CHD3 and CHD4 to form the nucleosome remodeling and histone deacetylation (NuRD) complex, or with SIN3, SAP18 and SAP30 to form the SIN3 HDAC complex (PubMed:10904264). Component of a RCOR/GFI/KDM1A/HDAC complex (By similarity). Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B, KDM1A, RCOR1 and PHF21A (PubMed:12493763). The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I (PubMed:12493763). Part of a complex containing the core histones H2A, H2B, H3 and H4, DEK and unphosphorylated DAXX (PubMed:12140263). Part of a complex containing ATR and CHD4 (PubMed:10545197). Forms a heterologous complex at least with YY1 (PubMed:8917507). Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed of DNMT1, DMAP1, PCNA, CAF1 (PubMed:10888872). Component of a mSin3A corepressor complex that contains SIN3A, SAP130, SUDS3, ARID4B, HDAC1 and HDAC2 (PubMed:12724404). Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2 (PubMed:10904264). Part of a complex containing at least CDYL, MIER1, MIER2, HDAC1 and HDAC2 (PubMed:19061646). Component of a histone deacetylase complex containing DNTTIP1, ZNF541, HDAC1 and HDAC2 (PubMed:21573134). Forms a complex comprising APPL1, RUVBL2, APPL2, CTNNB1 and HDAC1 (PubMed:19433865). Interacts with SPHK2 (PubMed:19729656). Interacts directly with GFI1 and GFI1B (By similarity). Interacts with SNW1, HDAC7, PRDM6, SAP30, SETDB1 and SUV39H1 (PubMed:10644367). Interacts with the MACROH2A1 (via the non-histone region) (By similarity). Interacts with ATR, CBFA2T3, DNMT1, SMARCAD1, MINT, HDAC10, HCFC1, NRIP1, KDM4A and PELP1 (PubMed:15927959, PubMed:15456770, PubMed:15060175, PubMed:11331609, PubMed:21549307, PubMed:12670868, PubMed:11533236, PubMed:11739383, PubMed:10888872). Int…
messages: S-nitrosylated by GAPDH. In neurons, S-nitrosylation at Cys-262 and Cys-274 does not affect enzyme activity, but induces HDAC2 release from chromatin. This in turn increases acetylation of histones surrounding neurotrophin-dependent gene promoters and promotes their transcription. In embryonic cortical neurons, S-Nitrosylation regulates dendritic growth and branching.
messages: Widely expressed; lower levels in brain and lung.

9606:SNRPA
gene id: 9606:SNRPA
uniprot id: P09012
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RRM U1 A/B'' family.
messages: Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. U1 snRNP is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. May bind preferentially to the 5'-UGCAC-3' motif on RNAs.
messages: Nucleus
messages: U1 snRNP is composed of the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Interacts with SFPQ; component of a snRNP-free complex with SFPQ.

9606:NBDY
gene id: 9606:NBDY
uniprot id: A0A0U1RRE5
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with mRNA decapping proteins DCP1A, DCP2 and EDC4.
messages: P-body
messages: Promotes dispersal of P-body components and is likely to play a role in the mRNA decapping process.
messages: Was previously thought to be non-coding but has been shown to be translated and functional.

9606:DRAXIN
gene id: 9606:DRAXIN
uniprot id: Q8NBI3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the draxin family.
messages: Chemorepulsive axon guidance protein required for the development of spinal cord and forebrain commissures. Acts as a chemorepulsive guidance protein for commissural axons during development. Able to inhibit or repel neurite outgrowth from dorsal spinal cord. Inhibits the stabilization of cytosolic beta-catenin (CTNNB1) via its interaction with LRP6, thereby acting as an antagonist of Wnt signaling pathway.
messages: Interacts with LRP6.
messages: Secreted

9606:MAGED1
gene id: 9606:MAGED1
uniprot id: Q9Y5V3
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in bone marrow stromal cells from both multiple myeloma patients and healthy donors. Seems to be ubiquitously expressed.
messages: Interacts with DLX5, DLX7 and MSX2 and forms homomultimers. Interacts with UNC5A. Interacts with TRIM28 and PJA1. Interacts with NGFR/p75NTR and RORA.
messages: Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression of core clock genes such as BMAL1 and NFIL3, induced, or NR1D1, repressed.
messages: Nucleus

9606:CTAG1B
gene id: 9606:CTAG1B
uniprot id: P78358
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CTAG/PCC1 family.
messages: Cytoplasm
messages: Expressed in testis and ovary and in a wide variety of cancers. Detected in uterine myometrium. Expressed from 18 weeks until birth in human fetal testis. In the adult testis, is strongly expressed in spermatogonia and in primary spermatocytes, but not in post-meiotic cells or in testicular somatic cells (at protein level).

9606:BTN3A1
gene id: 9606:BTN3A1
uniprot id: O00481
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the immunoglobulin superfamily. BTN/MOG family.
messages: Cell membrane
messages: Detected on T-cells, natural killer cells, dendritic cells and macrophages (at protein level). Ubiquitous. Highly expressed in heart, pancreas and lung, Moderately expressed in placenta, liver and muscle.
messages: Homodimer.
messages: N-glycosylated.
messages: Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as isopentenyl pyrophosphate.

9606:OR5D13
gene id: 9606:OR5D13
uniprot id: Q8NGL4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:SLC51A
gene id: 9606:SLC51A
uniprot id: Q86UW1
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the OST-alpha family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood (PubMed:16317684). Efficiently transports the major species of bile acids (taurocholate) (PubMed:16317684). Taurine conjugates are transported more efficiently across the basolateral membrane than glycine-conjugated bile acids (By similarity). Can also transport steroids such as estrone 3-sulfate and dehydroepiandrosterone 3-sulfate, therefore playing a role in the enterohepatic circulation of sterols (PubMed:16317684). Able to transport eicosanoids such as prostaglandin E2 (By similarity).
messages: Interacts with SLC51B. The Ost-alpha/Ost-beta complex is a heterodimer composed of alpha (SLC51A) and beta (SLC51B) subunit (By similarity).
messages: Positively regulated via NR1H4/FXR in adrenal gland, kidney and intestine.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed with a high expression in ileum. Expressed in testis, colon, liver, small intestine, kidney, ovary and adrenal gland; and at low levels in heart, lung, brain, pituitary, thyroid gland, uterus, prostate, mammary gland and fat.

9606:CFAP20
gene id: 9606:CFAP20
uniprot id: Q9Y6A4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CFAP20 family.
messages: Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia (PubMed:24414207). Required for axonemal microtubules polyglutamylation (PubMed:24414207).
messages: Nucleus
messages: centriole
messages: cilium axoneme
messages: cilium basal body

9606:GRID1
gene id: 9606:GRID1
uniprot id: A8KAN9
uniprot id: Q9ULK0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID1 subfamily.
messages: Cell membrane
messages: Dimer. Interacts (via extracellular N-terminal domain) with CBLN1 (via C1q domain), and more weakly with CBLN2.
messages: Membrane
messages: Postsynaptic cell membrane
messages: Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system.
messages: Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists.

9606:ANGEL2
gene id: 9606:ANGEL2
uniprot id: Q5VTE6
names: Similarity
messages: Belongs to the CCR4/nocturin family.

9606:SOX11
gene id: 9606:SOX11
uniprot id: P35716
names: Developmental Stage
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed primarily in the brain and heart, with low expression in the kidney, pancreas and muscle.
messages: Expressed primarily in the fetal brain, with low expression in the lung, and kidney at 6-7 weeks dpc (PubMed:8666406, PubMed:24886874). Weak expression in the fetal heart and muscle (PubMed:24886874).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor that acts as a transcriptional activator (PubMed:24886874). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity).

9606:CABP5
gene id: 9606:CABP5
uniprot id: Q9NP86
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Inhibits calcium-dependent inactivation of L-type calcium channel and shifts voltage dependence of activation to more depolarized membrane potentials (By similarity). Involved in the transmission of light signals (By similarity). May positively regulate neurotransmitter vesicle endocytosis and exocytosis in a salt-dependent manner (By similarity). May play a role in the extension and network organization of neurites (By similarity).
messages: Interacts with CACNA1C (via C-terminal CDB motif) in a calcium-dependent manner (By similarity). Interacts with STXBP1 (By similarity). Interacts with MYO6 (By similarity).
messages: Retina.

9606:ZNF341
gene id: 9606:ZNF341
uniprot id: Q9BYN7
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Binds DNA and to the STAT3 promoter.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription.

9606:NUP153
gene id: 9606:NUP153
uniprot id: P49790
names: Cofactor
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Binds HIV-2 protein vpx and thereby promotes the nuclear translocation of the lentiviral genome (in vitro).
messages: (Microbial infection) FG repeats mediates interaction with HIV-1 capsid protein p24 (CA).
messages: (Microbial infection) Interacts (via C-terminus) with HIV-1 capsid protein p24 (CA) (via N-terminus).
messages: (Microbial infection) Interacts with Epstein-barr virus BGLF4; this interaction allows BGLF4 nuclear entry.
messages: (Microbial infection) Interacts with HIV-1 caspid protein P24 and thereby promotes the integration of the virus in the nucleus of non-dividing cells (in vitro).
messages: (Microbial infection) Interacts with HIV-1 integrase; this interaction might play a role in nuclear import of HIV pre-integration complex.
messages: (Microbial infection) Interacts with HIV-2 virus protein vpx; this interaction might promote vpx nuclear entry.
messages: (Microbial infection) Interacts with hepatitis B virus capsid protein; this interaction probably plays a role in nuclear import of HBV genome.
messages: Belongs to the NUP153 family.
messages: Binds at least 4 zinc ions per subunit.
messages: Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with TPR, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Mediates TPR anchoring to the nuclear membrane at NPC. The repeat-containing domain may be involved in anchoring other components of the NPC to the pore membrane. Possible DNA-binding subunit of the nuclear pore complex (NPC).
messages: Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
messages: Interacts with RAN; the interaction occurs in a GTP- and GDP-independent manner (By similarity). Part of the nuclear pore complex (NPC). Interacts with TPR (via coiled coil region); the interaction is direct and provides a link between the core structure and the TPR-containing nuclear basket of the nuclear pore complex (NPC). Interacts with HIKESHI, SENP2 and XPO5. Interacts with MCM3AP isoform GANP; this interaction is required for GANP localization at the nuclear pore complex (PubMed:20005110, PubMed:23652018).
messages: Nucleus
messages: Nucleus membrane
messages: O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status.
messages: Phosphorylated in interphase, hyperphosphorylated during mitosis. May play a role in the reversible disassembly of the nuclear pore complex during mitosis (By similarity).
messages: Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains withstand degradation.
messages: nuclear pore complex

9606:POLDIP3
gene id: 9606:POLDIP3
uniprot id: Q9BY77
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts with POLD2. Interacts with NCBP1 and EIF4A3. Associates with the multiprotein exon junction complex (EJC). Interacts with RPS6KB1 (activated). Interacts with ERH. Interacts with THOC2, DDX39B and ZC3H11A; the interactions are ATP-dependent and indicative for an association with the TREX complex.
messages: Is involved in regulation of translation. Is preferentially associated with CBC-bound spliced mRNA-protein complexes during the pioneer round of mRNA translation. Contributes to enhanced translational efficiency of spliced over nonspliced mRNAs. Recruits activated ribosomal protein S6 kinase beta-1 I/RPS6KB1 to newly synthesized mRNA. Involved in nuclear mRNA export; probably mediated by association with the TREX complex.
messages: Nucleus
messages: Nucleus speckle
messages: Phosphorylated at Ser-383 and Ser-385 by RPS6KB1.

9606:GIPC1
gene id: 9606:GIPC1
uniprot id: A0A024R7I0
uniprot id: A0A024R7I1
uniprot id: A8K2I7
uniprot id: O14908
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GIPC family.
messages: Cytoplasm
messages: Interacts with GLUT1 (C-terminus), ACTN1, KIF1B, MYO6, PLEKHG5, SDC4/syndecan-4 and SEMA4C/semaphorin-4C (By similarity). Interacts with RGS19 C-terminus. Interacts with HTLV-I Tax through the PDZ domain.
messages: May be involved in G protein-linked signaling.
messages: Membrane
messages: The disease may be caused by variants affecting the gene represented in this entry. GGC repeat expansions in the 5'-UTR ranging from 73 to 164 were reported in patients, compared with a normal range from 12 to 32 in unaffected individuals. Patient skeletal muscle showed similar protein levels to those of unaffected individuals.
messages: Widely expressed (PubMed:9770488). Expressed in skeletal muscle (at protein level) (PubMed:32413282).

9606:DGKB
gene id: 9606:DGKB
uniprot id: Q9Y6T7
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activated by calcium.
messages: Belongs to the eukaryotic diacylglycerol kinase family.
messages: Cell membrane
messages: Cytoplasm
messages: Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:11719522). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable). Has a higher activity with long-chain diacylglycerols like 1,2-di-(9Z-octadecenoyl)-sn-glycerol compared to 1,2-didecanoyl-sn-glycerol (By similarity). Specifically expressed in brain, it regulates neuron-specific morphological changes including neurite branching and neurite spine formation (By similarity).
messages: Does not associate with membranes but has a diacylglycerol kinase activity.
messages: More ubiquitously expressed but at lower level compared to isoform 1.
messages: Postsynaptic cell membrane
messages: Specifically expressed in brain but also detected in uterus (PubMed:11719522). In adult brain, expressed in the amygdala, caudate nucleus, and hippocampus (PubMed:11719522).

9606:D2HGDH
gene id: 9606:D2HGDH
uniprot id: B3KSR6
uniprot id: B5MCV2
uniprot id: Q8N465
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Activated by zinc and cobalt ions.
messages: Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
messages: Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate (PubMed:15070399, PubMed:15609246, PubMed:16037974, PubMed:20020533, PubMed:33431826). Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC) (PubMed:33431826). Exhibits high activities towards D-2-HG and D-MAL but a very weak activity towards D-LAC (PubMed:33431826).
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MMP16
gene id: 9606:MMP16
uniprot id: P51512
names: Activity Regulation
names: Cofactor
names: Developmental Stage
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase M10A family.
messages: Binds 2 zinc ions per subunit.
messages: Cell membrane
messages: Cell surface
messages: Endopeptidase that degrades various components of the extracellular matrix, such as collagen type III and fibronectin. Activates progelatinase A. Involved in the matrix remodeling of blood vessels. Isoform short cleaves fibronectin and also collagen type III, but at lower rate. It has no effect on type I, II, IV and V collagen. However, upon interaction with CSPG4, it may be involved in degradation and invasion of type I collagen by melanoma cells.
messages: Expressed in heart, brain, placenta, ovary and small intestine. Isoform Short is found in the ovary.
messages: Expressed in tissues undergoing reconstruction. Present in fetal tissues, especially in brain. Expression seems to decline with advanced development.
messages: Interacts with CSPG4 through CSPG4 chondroitin sulfate glycosaminoglycan.
messages: TIMP-2 shows little inhibitory activity compared to TIMP-1. TIMP-1 seems to have less binding affinity than TIMP-2 for the short isoform.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: The precursor is cleaved by a furin endopeptidase.
messages: extracellular matrix

9606:SLAMF9
gene id: 9606:SLAMF9
uniprot id: Q96A28
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expression is predominantly restricted in hematopoietic tissues. Expressed in heart, spleen, liver, intestine, muscle and testis. Expressed in immune cells, including monocytes, dendritic, B- and T-cells. No expression was seen in peripheral blood leukocytes. Expressed in the leukocyte cell line THP-1.
messages: May play a role in the immune response.
messages: Membrane

9606:TBC1D3K
gene id: 9606:TBC1D3K
uniprot id: A0A087X1G2
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
messages: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).
messages: Cell membrane
messages: Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.
messages: TBC1D3 is encoded by a collection of very similar paralogs with multiple copies of each paralog, some human genomes encoding well over 50 copies depending on ethnic origin of the donor.
messages: Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.

9606:MIPEP
gene id: 9606:MIPEP
uniprot id: Q99797
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Activity is divalent cation-dependent. It is stimulated by manganese, magnesium or calcium ions and reversibly inhibited by zinc, cobalt and iron (By similarity).
messages: Belongs to the peptidase M3 family.
messages: Binds 1 zinc ion.
messages: Cleaves proteins, imported into the mitochondrion, to their mature size.
messages: Mitochondrion matrix
messages: Monomer.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PDGFRB
gene id: 9606:PDGFRB
uniprot id: P09619
uniprot id: Q59F04
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving PDGFRB is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with EVT6/TEL. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).
messages: Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-579, and to a lesser degree, at Tyr-581, is important for interaction with SRC family kinases. Phosphorylation at Tyr-740 and Tyr-751 is important for interaction with PIK3R1. Phosphorylation at Tyr-751 is important for interaction with NCK1. Phosphorylation at Tyr-771 and Tyr-857 is important for interaction with RASA1/GAP. Phosphorylation at Tyr-857 is important for efficient phosphorylation of PLCG1 and PTPN11, resulting in increased phosphorylation of AKT1, MAPK1/ERK2 and/or MAPK3/ERK1, PDCD6IP/ALIX and STAM, and in increased cell proliferation. Phosphorylation at Tyr-1009 is important for interaction with PTPN11. Phosphorylation at Tyr-1009 and Tyr-1021 is important for interaction with PLCG1. Phosphorylation at Tyr-1021 is important for interaction with CBL; PLCG1 and CBL compete for the same binding site. Dephosphorylated by PTPRJ at Tyr-751, Tyr-857, Tyr-1009 and Tyr-1021. Dephosphorylated by PTPN2 at Tyr-579 and Tyr-1021.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
messages: Cell membrane
messages: Cytoplasmic vesicle
messages: Interacts with homodimeric PDGFB and PDGFD, and with heterodimers formed by PDGFA and PDGFB. May also interact with homodimeric PDGFC. Monomer in the absence of bound ligand. Interaction with homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD, leads to receptor dimerization, where both PDGFRA homodimers and heterodimers with PDGFRB are observed. Interacts with SH2B2/APS. Interacts directly (tyrosine phosphorylated) with SHB. Interacts (tyrosine phosphorylated) with PIK3R1 and RASA1. Interacts (tyrosine phosphorylated) with CBL. Interacts (tyrosine phosphorylated) with SRC and SRC family kinases. Interacts (tyrosine phosphorylated) with PIK3C2B, maybe indirectly. Interacts (tyrosine phosphorylated) with SHC1, GRB7, GRB10 and NCK1. Interaction with GRB2 is mediated by SHC1. Interacts (via C-terminus) with SLC9A3R1.
messages: Lysosome lumen
messages: Membrane
messages: N-glycosylated.
messages: Present in an inactive conformation in the absence of bound ligand. Binding of PDGFB and/or PDGFD leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with AML. Translocation t(5;14)(q33;q32) with TRIP11 (PubMed:9373237).
messages: The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with JMML. Translocation t(5;17)(q33;p11.2) with SPECC1 (PubMed:15087372).
messages: The gene represented in this entry may be involved in disease pathogenesis. Chromosomal aberrations involving PDGFRB have been found in many instances of chronic myeloproliferative disorder with eosinophilia. Translocation t(5;12) with ETV6 on chromosome 12 creating an PDGFRB-ETV6 fusion protein (PubMed:12181402). Translocation t(5;15)(q33;q22) with TP53BP1 creating a PDGFRB-TP53BP1 fusion protein (PubMed:15492236). Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein (PubMed:12907457). Translocation t(5;6)(q33-34;q23) with CEP85L that fuses the 5'-end of CEP85L (isoform 4) to the 3'-end of PDGFRB (PubMed:21938754).
messages: Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the…
messages: Ubiquitinated. After autophosphorylation, the receptor is polyubiquitinated, leading to its degradation.

9606:CGREF1
gene id: 9606:CGREF1
uniprot id: Q99674
names: Domain
names: Function
names: Induction
names: PTM
names: Polymorphism
names: Subcellular Location Annotation
messages: Both EF-hands are required for function.
messages: By p53/TP53.
messages: Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines.
messages: Probably digested extracellularly by an unknown serine protease generating extremely hydrophobic bioactive peptides.
messages: Secreted
messages: The number of repeats of 17 amino acids in the C-terminal is polymorphic and varies between 3 and 4. The majority of available transcripts lacks one of these repeats. The sequence shown, corresponding to the reference genome (GRCh38/hg38), contains 4 repeats.

9606:HLF
gene id: 9606:HLF
uniprot id: Q16534
names: Disease Annotation
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving HLF is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(17;19)(q22;p13.3) with TCF3.
messages: Accumulates according to a robust circadian rhythm.
messages: Belongs to the bZIP family. PAR subfamily.
messages: Binds DNA specifically as homodimer or heterodimer with other PAR factors.
messages: Highly expressed in liver; lower levels in lung and kidney.
messages: Nucleus

9606:LRRTM3
gene id: 9606:LRRTM3
uniprot id: Q86VH5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the LRRTM family.
messages: Cell membrane
messages: Exhibits a limited synaptogenic activity in vitro, restricted to excitatory presynaptic differentiation (By similarity). May play a role in the development and maintenance of the vertebrate nervous system.
messages: Expressed in neuronal tissues.
messages: Postsynaptic cell membrane

9606:STRIP2
gene id: 9606:STRIP2
uniprot id: Q9ULQ0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the STRIP family.
messages: Component of striatin-interacting phosphatase and kinase (STRIPAK) complex (By similarity). Interacts with CTTNBP2NL.
messages: Cytoplasm
messages: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

9606:FITM2
gene id: 9606:FITM2
uniprot id: Q8N6M3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the FIT family. FIT2 subfamily.
messages: Endoplasmic reticulum membrane
messages: Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4'-phosphopantetheine and adenosine 3',5'-bisphosphate (PubMed:32915949) (By similarity). Preferentially hydrolyzes unsaturated long-chain acyl-CoA substrates such as oleoyl-CoA/(9Z)-octadecenoyl-CoA and arachidonoyl-CoA/(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA in the endoplasmic reticulum (ER) lumen (PubMed:32915949) (By similarity). This catalytic activity is required for maintaining ER structure and for lipid droplets (LDs) biogenesis, which are lipid storage organelles involved in maintaining lipid and energy homeostasis (PubMed:18160536, PubMed:32915949) (By similarity). Directly binds to diacylglycerol (DAGs) and triacylglycerol, which is also important for LD biogenesis (By similarity). May support directional budding of nacent LDs from the ER into the cytosol by reducing DAG levels at sites of LD formation (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987) (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.

9606:STAM
gene id: 9606:STAM
uniprot id: B4DZT2
uniprot id: Q92783
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Plays an important role in Dengue virus entry.
messages: Belongs to the STAM family.
messages: Component of the ESCRT-0 complex composed of STAM or STAM2 and HGS (PubMed:11687594, PubMed:9407053, PubMed:19278655). Probably part of a complex at least composed of HSG, STAM and EPS15 (PubMed:12551915). Found in a complex with HGS and E3 ligase ITCH and DTX3L (PubMed:24790097). Interacts with E3 ligase DTX3L; the interaction brings together STAM and HSG, promotes their recruitment to early endosomes and decreases STAM and HGS ubiquitination by ITCH (PubMed:24790097). Interacts with STAMBP/AMSH (PubMed:10383417). Interacts with PDGFRB (PubMed:20494825). Interacts with LITAF; the interaction is direct (PubMed:23166352). Identified in a complex with HGS and LITAF (PubMed:23166352). Interacts with HAVCR1 (PubMed:29742433).
messages: Cytoplasm
messages: Early endosome membrane
messages: Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes.
messages: Phosphorylated on Tyr-198. Phosphorylated in response to IL2, IL3, IL4, IL7, CSF2/GM-CSF, EGF and PDGFB. Phosphorylated by activated PDGFRB.
messages: The VHS domain mediates high-avidity binding to Lys63-linked and Lys48-linked polyubiquitinated cargos.
messages: Ubiquitinated by ITCH.
messages: Ubiquitously expressed.

9606:PELI3
gene id: 9606:PELI3
uniprot id: A0A024R5B1
uniprot id: A0A024R5I2
uniprot id: Q8N2H9
names: Function
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the pellino family.
messages: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
messages: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation.
messages: Highly expressed in brain, heart and testis, and at lower level in kidney, liver, lung, placenta, small intestine, spleen and stomach. Isoform 1 is not expressed in lung.
messages: Interacts with TRAF6, IRAK1, MAP3K14 and MAP3K7.
messages: Phosphorylated by IRAK1 enhancing its E3 ligase activity.

9606:TBX19
gene id: 9606:TBX19
uniprot id: B3KRD9
uniprot id: O60806
names: Caution
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.

9606:DNAJC24
gene id: 9606:DNAJC24
uniprot id: Q6P3W2
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DPH4 family.
messages: It is uncertain whether Met-1 or Met-2 is the initiator.
messages: Monomer and homooligomer. Iron binding promotes oligomerization.
messages: Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).
messages: The DPH-type metal-binding (MB) domain can bind either zinc or iron ions.
messages: cytoskeleton

9606:APLN
gene id: 9606:APLN
uniprot id: Q9ULZ1
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: (Microbial infection) Endogenous ligand for the apelin receptor (APLNR), an alternative coreceptor with CD4 for HIV-1 infection (PubMed:11090199). Inhibits HIV-1 entry in cells coexpressing CD4 and APLNR (PubMed:11090199). Apelin-36 has a greater inhibitory activity on HIV infection than other synthetic apelin derivatives (PubMed:11090199).
messages: Belongs to the apelin family.
messages: Endogenous ligand for the apelin receptor (APLNR) (PubMed:10525157). Drives internalization of the apelin receptor (By similarity). Apelin-36 dissociates more hardly than (pyroglu)apelin-13 from APLNR (By similarity). Hormone involved in the regulation of cardiac precursor cell movements during gastrulation and heart morphogenesis (By similarity). Has an inhibitory effect on cytokine production in response to T-cell receptor/CD3 cross-linking; the oral intake of apelin in the colostrum and the milk might therefore modulate immune responses in neonates (By similarity). Plays a role in early coronary blood vessels formation (By similarity). Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity). May also have a role in the central control of body fluid homeostasis by influencing vasopressin release and drinking behavior (By similarity).
messages: Expressed in the brain with highest levels in the frontal cortex, thalamus, hypothalamus and midbrain (PubMed:10617103). Secreted by the mammary gland into the colostrum and the milk.
messages: Secreted
messages: Several active peptides may be produced by proteolytic processing of the peptide precursor.
messages: extracellular space

9606:FAN1
gene id: 9606:FAN1
uniprot id: Q9Y2M0
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the FAN1 family.
messages: Binds 2 magnesium or manganese ions per subunit.
messages: Interacts with FANCD2 (when monoubiquitinated). Interacts with FANCI, MLH1, MLH3 and PMS2.
messages: Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).
messages: Nucleus
messages: Schizophrenia and autism. Schizophrenia is a severe psychiatric disorder characterized by positive, negative, and cognitive symptoms, and it is associated with increased mortality and severely reduced fecundity. Autim is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. Disease susceptibility may be associated with variants affecting the gene represented in this entry.
messages: The KEN box and D-box are required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated ubiquitination.
messages: The UBZ4-type zinc finger specifically binds monoubiquitinated FANCD2.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated and degraded during mitotic exit by the APC/C-Cdh1 complex.

9606:ACOT7
gene id: 9606:ACOT7
uniprot id: O00154
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Both HotDog ACOT-type hydrolase domains are required for efficient activity.
messages: Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:10578051). Preferentially hydrolyzes palmitoyl-CoA, but has a broad specificity acting on other fatty acyl-CoAs with chain-lengths of C8-C18 (PubMed:10578051). May play an important physiological function in brain (PubMed:10578051).
messages: Homohexamer.
messages: Isoform 4 is expressed exclusively in brain.
messages: Major isoform.
messages: Mitochondrion
messages: cytosol

9606:SDR39U1
gene id: 9606:SDR39U1
uniprot id: Q9NRG7
names: Function
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Tissue Specificity
messages: Belongs to the NAD(P)-dependent epimerase/dehydratase family. SDR39U1 subfamily.
messages: Despite its name, it shares more sequence similarity with the sugar epimerase family than with the short-chain dehydrogenases/reductases (SDR) family.
messages: Expressed in adrenal gland.
messages: Intron retention at the N-terminus.
messages: Putative NADP-dependent oxidoreductase.

9606:SOX15
gene id: 9606:SOX15
uniprot id: O60248
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with HAND1; the interaction enhances HAND1-induced differentiation of trophoblast giant cells (By similarity). Interacts with POU5F1 (OCT3/4); binds synergistically with POU5F1 to DNA (By similarity). Interacts with FHL3; the interaction recruits the transcriptional coactivator FHL3 to the FOXK1 promoter (By similarity).
messages: Nucleus
messages: Transcription factor that binds to DNA at the 5'-AACAATG-3' consensus sequence (By similarity). Acts as a transcriptional activator and repressor (By similarity). Binds synergistically with POU5F1 (OCT3/4) to gene promoters (By similarity). Binds to the FOXK1 promoter and recruits FHL3, resulting in transcriptional activation of FOXK1 which leads to myoblast proliferation (By similarity). Acts as an inhibitor of myoblast differentiation via transcriptional repression which leads to down-regulation of the muscle-specific genes MYOD and MYOG (By similarity). Involved in trophoblast giant cell differentiation via enhancement of HAND1 transcriptional activity (By similarity). Regulates transcription of HRC via binding to it proximal enhancer region (By similarity). Involved in skeletal muscle regeneration (By similarity). Also plays a role in the development of myogenic precursor cells (By similarity).
messages: Widely expressed in fetal and adult tissues examined, highest level found in fetal spinal cord and adult brain and testis.

9606:TSPY4
gene id: 9606:TSPY4
uniprot id: A6NEC3
uniprot id: P0CV99
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the nucleosome assembly protein (NAP) family.
messages: Cytoplasm
messages: Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. 35 tandemly repeated gene copies on Yp11 originating from one individual have been reported (PubMed:12815422).
messages: May be involved in sperm differentiation and proliferation.
messages: Nucleus

9606:RHEB
gene id: 9606:RHEB
uniprot id: Q15382
names: Activity Regulation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activates the protein kinase activity of mTORC1, and thereby plays a role in the regulation of apoptosis. Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Has low intrinsic GTPase activity.
messages: Alternates between an inactive form bound to GDP and an active form bound to GTP. Inactivated by TSC1-TSC2 via the GTPase activating protein (GAP) domain of TSC2.
messages: Belongs to the small GTPase superfamily. Rheb family.
messages: Binds to mTORC1 in a guanyl nucleotide-independent manner. Interacts directly with MTOR, MLST8 and RPTOR. Interacts with TSC2. Interacts (when prenylated) with PDE6D; this promotes release from membranes.
messages: Endomembrane system
messages: Endoplasmic reticulum membrane
messages: Farnesylation is important for efficiently activating mTORC1-mediated signaling.
messages: Golgi apparatus membrane
messages: Phosphorylation by MAPKAPK5 impairs GTP-binding and inactivation.
messages: The conserved catalytic Gln-64 found in other Ras-like GTPases seems not to be involved in GTP hydrolysis in RHEB.
messages: Ubiquitous. Highest levels observed in skeletal and cardiac muscle.
messages: cytosol

9606:CFAP61
gene id: 9606:CFAP61
uniprot id: Q8NHU2
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
messages: Created from a fragment entry and may await further characterization.
messages: May regulate cilium motility through its role in the assembly of the axonemal radial spokes.
messages: cilium axoneme

9606:DMRTC1
gene id: 9606:DMRTC1
uniprot id: A0A024R4F7
uniprot id: Q5HYR2
names: Caution
names: Similarity
names: Tissue Specificity
messages: Although related to other DMRT proteins, it does not contain a canonical DM DNA-binding domain.
messages: Belongs to the DMRT family.
messages: Predominantly expressed in kidney, pancreas, ovary and testis. Detected in brain and in many other tissues.

9606:CCDC68
gene id: 9606:CCDC68
uniprot id: Q9H2F9
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092).
messages: Expressed in bone marrow, colon, small intestine, spleen, testis, trachea and cutaneous T-cell lymphoma (CTCL).
messages: Interacts with CEP170 (PubMed:28422092).
messages: centriole

9606:CISD3
gene id: 9606:CISD3
uniprot id: P0C7P0
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CISD protein family.
messages: Binds 2 [2Fe-2S] clusters per subunit.
messages: Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function.
messages: Mitochondrion
messages: Monomer.

9606:ODAM
gene id: 9606:ODAM
uniprot id: A1E959
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ODAM family.
messages: Cytoplasm
messages: Expressed in the junctional epithelium of healthy teeth. In periodontitis, absent in the pocket epithelium of the diseased periodontium but is detected in the gingival crevicular fluid.
messages: Interacts (via C-terminus) with ARHGEF5.
messages: Nucleus
messages: O-glycosylated.
messages: ODAM protein is the unique constituent of calcifying epithelial odontogenic tumors (CEOTs), also known as Pindborg tumors. CEOTs are benign but locally aggressive pathologic entities arising mainly in the mandible and commonly associated with an unerupted or embedded tooth. They are characterized by the presence of squamous-cell proliferation, calcification, and, notably, amyloid deposits.
messages: Secreted
messages: Tooth-associated epithelia protein that probably plays a role in odontogenesis, the complex process that results in the initiation and generation of the tooth. May be incorporated in the enamel matrix at the end of mineralization process. Involved in the induction of RHOA activity via interaction with ARHGEF and expression of downstream factors such as ROCK. Plays a role in attachment of the junctional epithelium to the tooth surface.

9606:EIF2B1
gene id: 9606:EIF2B1
uniprot id: Q14232
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
messages: Belongs to the eIF-2B alpha/beta/delta subunits family.
messages: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
messages: Complex of five different subunits; alpha, beta, gamma, delta and epsilon.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PCLO
gene id: 9606:PCLO
uniprot id: Q9Y6V0
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds 3 Ca(2+) ions per C2 domain.
messages: C2 domain 1 is involved in binding calcium and phospholipids. Calcium binds with low affinity but with high specificity and induces a large conformational change.
messages: Interacts with BSN, ERC2/CAST1, RIMS1 and UNC13A (By similarity). Interacts (via C-terminus) with TRIO (via N-terminus) (By similarity). Interacts with CTBP1 (By similarity). Interacts with SIAH1; this interaction negatively regulates SIAH1 E3 ligase activity (By similarity). Directly interacts with GIT1 and GIT2 (By similarity).
messages: Moderately expressed in the developing cerebral cortex.
messages: Presynaptic active zone
messages: Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (By similarity). After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (By similarity). At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). Organizes as well the readily releasable pool of synaptic vesicles and safeguards a fraction of them to be not immediately available for action potential-induced release (By similarity). Functions also in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy (By similarity). Mediates also synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TMEM91
gene id: 9606:TMEM91
uniprot id: Q6ZNR0
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CD225/Dispanin family.
messages: Membrane

9606:IRF7
gene id: 9606:IRF7
uniprot id: A0A024RCA2
uniprot id: B4E1B1
uniprot id: M9RSF4
uniprot id: Q92985
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: 'Lys-48'-linked polyubiquitination and subsequent proteasomal degradation is NMI-dependent in response to Sendai virus infection.
messages: 'Lys-63'-linked ubiquitination by NEURL3 promotes IRF7 activation.
messages: (Microbial infection) Cleaved and inactivated by the protease 3C of enterovirus 71 allowing the virus to disrupt the host type I interferon production.
messages: (Microbial infection) Cleaved and inactivated by the protease 3C of human enterovirus 68D (EV68) allowing the virus to disrupt the host type I interferon production.
messages: (Microbial infection) Interacts with Epstein-Barr virus LF2 and LMP1.
messages: (Microbial infection) Interacts with Seneca Valley virus protease 3C; this interaction is involved in the suppression of IRF7 expression and phosphorylation by the virus.
messages: (Microbial infection) Interacts with ebolavirus VP35; this interaction mediates the sumoylation of IRF7 and contributes to the viral inhibition of IFN-type I production.
messages: (Microbial infection) Interacts with herpes virus 8/HHV-8 protein vIRF-4; this interaction prevents IRF7 dimerization and subsequent activation (PubMed:28342865).
messages: (Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein HBZ.
messages: (Microbial infection) Interacts with human herpes virus 8/HHV-8 proteins ORF45 and vIRF-1.
messages: (Microbial infection) Interacts with rotavirus A NSP1; this interaction leads to the proteasome-dependent degradation of IRF7.
messages: (Microbial infection) Interacts with severe fever with thrombocytopenia syndrome virus (SFTSV) NSs; this interaction sequesters IRF7 in NSs-induced cytoplasmic inclusion bodies.
messages: Acetylation inhibits its DNA-binding ability and activity.
messages: Belongs to the IRF family.
messages: By type I interferon (IFN) and viruses.
messages: Cytoplasm
messages: Expressed predominantly in spleen, thymus and peripheral blood leukocytes.
messages: In response to a viral infection, phosphorylated on Ser-477 and Ser-479 by TBK1 and IKBKE1. Phosphorylation, and subsequent activation is inhibited by vaccinia virus protein E3. In TLR7- and TLR9-mediated signaling pathway, phosphorylated by IRAK1.
messages: In the absence of viral infection, maintained as a monomer in an autoinhibited state and phosphorylation disrupts this autoinhibition leading to the liberation of the DNA-binding and dimerization activities and its nuclear localization where it can activate type I IFN and ISG genes.
messages: Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses (PubMed:28342865). Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:17574024, PubMed:32972995). Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88-independent pathway and the TLR-activated, MyD88-dependent pathway. Induces transcription of ubiquitin hydrolase USP25 mRNA in response to lipopolysaccharide (LPS) or viral infection in a type I IFN-dependent manner (By similarity). Required during both the early and late phases of the IFN gene induction but is more critical for the late than for the early phase. Exists in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, becomes phosphorylated by IKBKE and TBK1 kinases. This induces a conformational change, leading to its dimerization and nuclear localization where along with other coactivators it can activate transcription of the type I IFN and ISG genes. Can also play a role in regulating adaptive immune responses by inducing PSMB9/LMP2 expression, either directly or through induction of IRF1. Binds to the Q promoter (Qp) of EBV nuclear antigen 1 a (EBNA1) and may play a role in the regulation of EBV latency. Can activate distinct gene expression programs in macrophages and regulate the anti-tumor properties of primary macrophages (By similarity) (PubMed:11073981, PubMed:12374802, PubMed:15361868, PubMed:17404045).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Monomer. Homodimer; phosphorylation-induced. Heterodimer with IRF3 (PubMed:17574024). Interacts with TICAM1 and TICAM2. Interacts with MYD88 and TRAF6. Interacts with TRIM35 (PubMed:25907537, PubMed:11073981, PubMed:11314014, PubMed:14517278, PubMed:14739303, PubMed:15361868, PubMed:15492225). Interacts with NMI; the interaction is direct and leads to the inhibition of IRF7-mediated type I IFN production (By similarity).
messages: Nucleus
messages: Sumoylated by TRIM28, which inhibits its transactivation activity.
messages: TRAF6-mediated ubiquitination is required for IRF7 activation (By similarity). TRIM35 mediates IRF7 'Lys-48'-linked polyubiquitination and subsequent proteasomal degradation (PubMed:25907537). Ubiquitinated by UBE3C, leading to its degradation (PubMed:21167755).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:C1QL1
gene id: 9606:C1QL1
uniprot id: O75973
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in brainstem.
messages: Interacts with ADGRB3. Forms heterooligomers with C1QL4, when proteins are coexpressed; this interaction does not occur after secretion.
messages: May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity).
messages: Secreted

9606:RAD50
gene id: 9606:RAD50
uniprot id: A5D6Y3
uniprot id: Q92878
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with herpes simplex virus 1 protein UL12 (PubMed:20943970).
messages: Belongs to the SMC family. RAD50 subfamily.
messages: Binds 1 zinc ion per homodimer.
messages: Chromosome
messages: Component of the MRN complex composed of two heterodimers RAD50/MRE11 associated with a single NBN (PubMed:8756642, PubMed:9590181, PubMed:9705271, PubMed:10839544, PubMed:26215093). As part of the MRN complex, interacts with MCM8 and MCM9; the interaction recruits the complex to DNA repair sites (PubMed:26215093). Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11 and NBN (PubMed:10783165). Found in a complex with TERF2 (PubMed:10888888). Interacts with RINT1 (PubMed:11096100). Interacts with BRCA1 via its N-terminal domain (PubMed:10426999). Interacts with DCLRE1C/Artemis (PubMed:15456891, PubMed:15723659). Interacts with MRNIP (PubMed:27568553). Interacts with CYREN (via XLF motif) (By similarity).
messages: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).
messages: Contaminating sequence. Potential poly-A sequence.
messages: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.
messages: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule, thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain, interact with the MRE11 homodimer (By similarity).
messages: telomere

9606:OR5A2
gene id: 9606:OR5A2
uniprot id: A0A126GVD5
uniprot id: Q8NGI9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:SEPTIN8
gene id: 9606:SEPTIN8
uniprot id: A6NFQ9
uniprot id: B7ZVZ1
uniprot id: Q92599
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
messages: Cytoplasm
messages: Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion (PubMed:15116257). Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity).
messages: Filament-forming cytoskeletal GTPase.
messages: KIAA0202a differs from KIAA0202c at the level of the 3'-UTR.
messages: Presynapse
messages: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By similarity). Interacts with CDK14 (PubMed:12098780). Interacts with SEPTIN5 (PubMed:12909369). Interacts with SEPTIN7 (By similarity). Interacts with SEPTIN4 (PubMed:15116257). Interacts with VAMP2; the interaction inhibits interaction of VAMP2 with SYP (By similarity). Interacts with STX1A (By similarity).
messages: Septins polymerize into heterooligomeric protein complexes that form filaments.
messages: Stabilizes BACE1 protein levels and promotes the sorting and accumulation of BACE1 to the recycling or endosomal compartments, modulating the beta-amyloidogenic processing of APP.
messages: Synapse
messages: Widely expressed, including in brain, heart and platelets; most abundant in aorta. Isoform 2 is expressed at low levels in specific brain areas, such as occipital pole, frontal lobe, temporal lobe and putamen. Isoform 1 and 3 are highly expressed in specific brain areas, such as occipital pole, frontal lobe, temporal lobe and putamen. Isoform 2 is highly expressed in prostate, testis and ovary. Isoform 1 and isoform 3 are expressed at low levels in prostate, testis and ovary.
messages: axon
messages: cytoskeleton
messages: synaptic vesicle membrane

9606:NAPEPLD
gene id: 9606:NAPEPLD
uniprot id: Q6IQ20
names: Activity Regulation
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by divalent cations (PubMed:16527816). Activated by bile acids and their conjugates, except for lithocholic acid which is rather inhibitory. Binding of deoxycholic acid favors the selective release of anandamide and likely other unsatured long FAEs (PubMed:27571266, PubMed:25684574). Inhibited by phosphatidylethanolamines (PubMed:25684574).
messages: Belongs to the NAPE-PLD family.
messages: Binds 2 zinc divalent cations per subunit.
messages: D-type phospholipase that hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce bioactive N-acylethanolamines/fatty acid ethanolamides (NAEs/FAEs) and phosphatidic acid (PubMed:14634025, PubMed:16527816, PubMed:27571266, PubMed:25684574). Cleaves the terminal phosphodiester bond of diacyl- and alkenylacyl-NAPEs, primarily playing a role in the generation of long-chain saturated and monounsaturated NAEs in the brain (By similarity). May control NAPE homeostasis in dopaminergic neuron membranes and regulate neuron survival, partly through RAC1 activation (By similarity). As a regulator of lipid metabolism in the adipose tissue, mediates the crosstalk between adipocytes, gut microbiota and immune cells to control body temperature and weight. In particular, regulates energy homeostasis by promoting cold-induced brown or beige adipocyte differentiation program to generate heat from fatty acids and glucose. Has limited D-type phospholipase activity toward N-acyl lyso-NAPEs (By similarity).
messages: Early endosome membrane
messages: Golgi apparatus membrane
messages: Homodimer. Bile acids promote the assembly of inactive monomers into an active dimer and enable catalysis.
messages: Nucleus envelope
messages: Widely expressed. Highest expression in brain, kidney and testis (at protein level). Expressed in adipose tissue (at protein level).
messages: nucleoplasm

9606:PRELID1
gene id: 9606:PRELID1
uniprot id: Q9Y255
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Forms a complex with TRIAP1 in the mitochondrion intermembrane space. Interacts with OPA1 and AIFM1.
messages: Highly expressed in fetal liver; less expressed in fetal brain, lung, and kidney. At the adult stage, expression is drastically reduced in the liver but highly expressed in the spleen, brain, lung, lymph nodes and peripheral blood leukocytes.
messages: Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Regulates the mitochondrial apoptotic pathway in primary Th cells. Regulates Th cell differentiation by down-regulating STAT6 thereby reducing IL-4-induced Th2 cell number. May be important for the development of vital and immunocompetent organs.
messages: Mitochondrion
messages: Mitochondrion intermembrane space
messages: Up-regulated in response to activation in primary T helper cells.

9606:CD86
gene id: 9606:CD86
uniprot id: P42081
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for adenovirus subgroup B.
messages: (Microbial infection) Interacts with Orthopoxvirus OPG038/M2 protein, inhibiting the interaction with CTLA4 and CD28.
messages: (Microbial infection) Interacts with adenovirus subgroup b fiber protein.
messages: Cell membrane
messages: Expressed by activated B-lymphocytes and monocytes.
messages: Homodimer. Interacts with MARCH8. Interacts (via cytoplasmic domain) with PHB1 and PHB2; the interactions increases after priming with CD40 (By similarity).
messages: Interferes with the formation of CD86 clusters, and thus acts as a negative regulator of T-cell activation.
messages: Polyubiquitinated; which is promoted by MARCH8 and results in endocytosis and lysosomal degradation.
messages: Receptor involved in the costimulatory signal essential for T-lymphocyte proliferation and interleukin-2 production, by binding CD28 or CTLA-4. May play a critical role in the early events of T-cell activation and costimulation of naive T-cells, such as deciding between immunity and anergy that is made by T-cells within 24 hours after activation (PubMed:7527824). Also involved in the regulation of B cells function, plays a role in regulating the level of IgG(1) produced. Upon CD40 engagement, activates NF-kappa-B signaling pathway via phospholipase C and protein kinase C activation (By similarity).

9606:KIF11
gene id: 9606:KIF11
uniprot id: P52732
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A subset of this protein primarily localized at the spindle pole is phosphorylated by NEK6 during mitosis; phosphorylation is required for mitotic function.
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily.
messages: Cytoplasm
messages: Interacts with the thyroid hormone receptor in the presence of thyroid hormone. Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5. Interacts (via C-terminus) with the kinase NEK6 in both interphase and mitosis. Interacts with RARRES1 and AGBL2 (PubMed:21303978).
messages: Motor protein required for establishing a bipolar spindle during mitosis (PubMed:19001501). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769).
messages: Phosphorylated exclusively on serine during S phase, but on both serine and Thr-926 during mitosis, so controlling the association of KIF11 with the spindle apparatus (probably during early prophase).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: spindle pole

9606:OR6K6
gene id: 9606:OR6K6
uniprot id: Q8NGW6
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: It is uncertain whether Met-1 or Met-25 is the initiator.
messages: Odorant receptor.

9606:SPATA31A6
gene id: 9606:SPATA31A6
uniprot id: Q5VVP1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SPATA31 family.
messages: May play a role in spermatogenesis.
messages: Membrane

9606:ZDHHC3
gene id: 9606:ZDHHC3
uniprot id: F8W6M3
uniprot id: Q9NYG2
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autopalmitoylated.
messages: Belongs to the DHHC palmitoyltransferase family.
messages: Golgi apparatus membrane
messages: Golgi-localized palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates (PubMed:19001095, PubMed:21926431, PubMed:22240897, PubMed:23034182, PubMed:22314500). Has no stringent fatty acid selectivity and in addition to palmitate can also transfer onto target proteins myristate from tetradecanoyl-CoA and stearate from octadecanoyl-CoA (By similarity). Plays an important role in G protein-coupled receptor signaling pathways involving GNAQ and potentially other heterotrimeric G proteins by regulating their dynamic association with the plasma membrane (PubMed:19001095). Palmitoylates ITGA6 and ITGB4, thereby regulating the alpha-6/beta-4 integrin localization, expression and function in cell adhesion to laminin (PubMed:22314500). Plays a role in the TRAIL-activated apoptotic signaling pathway most probably through the palmitoylation and localization to the plasma membrane of TNFRSF10A (PubMed:22240897). In the brain, by palmitoylating the gamma subunit GABRG2 of GABA(A) receptors and regulating their postsynaptic accumulation, plays a role in synaptic GABAergic inhibitory function and GABAergic innervation. Palmitoylates the neuronal protein GAP43 which is also involved in the formation of GABAergic synapses. Palmitoylates NCDN thereby regulating its association with endosome membranes. Probably palmitoylates PRCD and is involved in its proper localization within the photoreceptor. Could mediate the palmitoylation of NCAM1 and regulate neurite outgrowth. Could palmitoylate DNAJC5 and regulate its localization to Golgi membranes. Also constitutively palmitoylates DLG4. May also palmitoylate SNAP25. Could palmitoylate the glutamate receptors GRIA1 and GRIA2 but this has not been confirmed in vivo (By similarity). Could also palmitoylate the D(2) dopamine receptor DRD2 (PubMed:26535572).
messages: May also function as a calcium transporter.
messages: Membrane
messages: Monomer. Homooligomers. The monomeric form has a higher catalytic activity. Forms heterooligomers with ZDHHC7 (By similarity). Interacts with TNFRSF10A (PubMed:22240897).
messages: Phosphorylation by FGFR1 and SRC probably regulates the palmitoyltransferase activity.
messages: The DHHC domain is required for palmitoyltransferase activity.
messages: Widely expressed with significant expression in heart, lung, liver, skeletal muscle, kidney, testis, thymus, small intestine and leukocyte.

9606:KLHDC3
gene id: 9606:KLHDC3
uniprot id: Q9BQ90
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of a CRL2 E3 ubiquitin-protein ligase complex, also named ECS (Elongin BC-CUL2/5-SOCS-box protein) complex, composed of CUL2, Elongin BC (ELOB and ELOC), RBX1 and substrate-specific adapter KLHDC3.
messages: Cytoplasm
messages: Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:29779948, PubMed:29775578). The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms (PubMed:29779948, PubMed:29775578). The CRL2(KLHDC3) complex specifically recognizes proteins with a glycine (Gly) at the C-terminus, leading to their ubiquitination and degradation: recognizes the C-terminal -Arg-(Xaa)n-Arg-Gly, -Arg-(Xaa)n-Lys-Gly, and -Arg-(Xaa)n-Gln-Gly degrons (PubMed:29779948, PubMed:29775578). The CRL2(KLHDC3) complex mediates ubiquitination and degradation of truncated SELENOV and SEPHS2 selenoproteins produced by failed UGA/Sec decoding, which end with a glycine (PubMed:26138980). May be involved in meiotic recombination process (PubMed:12606021).

9606:OR1L1
gene id: 9606:OR1L1
uniprot id: A0A0B4J1S0
uniprot id: Q8NH94
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: It is uncertain whether Met-1 or Met-51 is the initiator.
messages: Membrane
messages: Odorant receptor.

9606:UGT1A1
gene id: 9606:UGT1A1
uniprot id: P22309
uniprot id: Q5DT03
names: Disease Annotation
names: Function
names: Miscellaneous
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the UDP-glycosyltransferase family.
messages: Endoplasmic reticulum membrane
messages: Expressed in liver, colon and small intestine. Not expressed in kidney, esophagus and skin.
messages: Expressed in liver, colon, small intestine and kidney. Not expressed in esophagus and skin.
messages: Genetic variation in UGT1A1 defines the bilirubin serum levels quantitative trait locus 1 (BILIQTL1) [MIM:601816]. Variation in serum bilirubin is associated with altered cardiovascular disease risk and drug metabolism.
messages: Homodimer (PubMed:17179145). Homooligomer (Probable). Interacts with UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10 to form heterodimers (PubMed:17179145). Isoform 1 interacts with isoform 2/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 2 (PubMed:17187418, PubMed:20610558). Isoform 1 also interacts with respective i2 isoforms of UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10 (PubMed:20610558).
messages: Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1.
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry. The defect has been ascribed to various breast milk substances, but the component or combination of components that is responsible remains unclear. Defects of UGT1A1 are an underlying cause of the prolonged unconjugated hyperbilirubinemia associated with breast milk. One or more components in the milk may trigger the jaundice in infants who have such mutations. Mutations are identical to those detected in patients with Gilbert syndrome, a risk factor of neonatal non-physiologic hyperbilirubinemia and a genetic factor in fasting hyperbilirubinemia.
messages: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:15472229, PubMed:18004206, PubMed:18004212, PubMed:18719240, PubMed:19830808, PubMed:23288867). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:12181437, PubMed:18004206, PubMed:18004212). Catalyzes the glucuronidation of endogenous estrogen hormones such as estradiol, estrone and estriol (PubMed:15472229, PubMed:18719240, PubMed:23288867). Involved in the glucuronidation of bilirubin, a degradation product occurring in the normal catabolic pathway that breaks down heme in vertebrates (PubMed:17187418, PubMed:18004206, PubMed:19830808). Also catalyzes the glucuronidation the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087, PubMed:19545173). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist losartan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Involved in the biotransformation of 7-ethyl-10-hydroxycamptothecin (SN-38), the pharmacologically active metabolite of the anticancer drug irinotecan (PubMed:12181437, PubMed:18004212, PubMed:20610558).
messages: UGT1A1 isoform is part of the UGT1A complex locus which displays alternative use of promoters, first exons and terminal exons. The locus is defined by 13 first exons, which are alternatively spliced to 3 other common exons and 2 alternative terminal exons 5. From the 27 possible mRNA isoforms, 9 produce functionally active polypeptides (UGT1A1, 1A3, 1A4, 1A5, 1A6, 1A7, 1A8, 1A9 and 1A10) called isoforms 1 (i1). Use of an alternative exon 5 (5b) as terminal exon is leading to 9 additional alternatively spliced products termed isoforms i2 and which lack transferase activity.
messages: perinuclear region

9606:INSR
gene id: 9606:INSR
uniprot id: P06213
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated in response to insulin. Autophosphorylation activates the kinase activity. PTPN1, PTPRE and PTPRF dephosphorylate important tyrosine residues, thereby reducing INSR activity. Inhibited by ENPP1. GRB10 and GRB14 inhibit the catalytic activity of the INSR, they block access of substrates to the activated receptor. SOCS1 and SOCS3 act as negative regulators of INSR activity, they bind to the activated INRS and interfere with the phosphorylation of INSR substrates.
messages: After being transported from the endoplasmic reticulum to the Golgi apparatus, the single glycosylated precursor is further glycosylated and then cleaved, followed by its transport to the plasma membrane.
messages: Autophosphorylated on tyrosine residues in response to insulin. Phosphorylation of Tyr-999 is required for binding to IRS1, SHC1 and STAT5B. Dephosphorylated by PTPRE at Tyr-999, Tyr-1185, Tyr-1189 and Tyr-1190. Dephosphorylated by PTPRF and PTPN1. Dephosphorylated by PTPN2; down-regulates insulin-induced signaling.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
messages: Cell membrane
messages: Isoform Long and isoform Short are predominantly expressed in tissue targets of insulin metabolic effects: liver, adipose tissue and skeletal muscle but are also expressed in the peripheral nerve, kidney, pulmonary alveoli, pancreatic acini, placenta vascular endothelium, fibroblasts, monocytes, granulocytes, erythrocytes and skin. Isoform Short is preferentially expressed in fetal cells such as fetal fibroblasts, muscle, liver and kidney. Found as a hybrid receptor with IGF1R in muscle, heart, kidney, adipose tissue, skeletal muscle, hepatoma, fibroblasts, spleen and placenta (at protein level). Overexpressed in several tumors, including breast, colon, lung, ovary, and thyroid carcinomas.
messages: Late endosome
messages: Lysosome
messages: Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3, 4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth, survival and ce…
messages: Tetramer of 2 alpha and 2 beta chains linked by disulfide bonds. The alpha chains carry the insulin-binding regions, while the beta chains carry the kinase domain. Forms a hybrid receptor with IGF1R, the hybrid is a tetramer consisting of 1 alpha chain and 1 beta chain of INSR and 1 alpha chain and 1 beta chain of IGF1R. Interacts with SORBS1 but dissociates from it following insulin stimulation. Binds SH2B2. Activated form of INSR interacts (via Tyr-999) with the PTB/PID domains of IRS1 and SHC1. The sequences surrounding the phosphorylated NPXY motif contribute differentially to either IRS1 or SHC1 recognition. Interacts (via tyrosines in the C-terminus) with IRS2 (via PTB domain and 591-786 AA); the 591-786 would be the primary anchor of IRS2 to INSR while the PTB domain would have a stabilizing action on the interaction with INSR. Interacts with the SH2 domains of the 85 kDa regulatory subunit of PI3K (PIK3R1) in vitro, when autophosphorylated on tyrosine residues. Interacts with SOCS7. Interacts (via the phosphorylated Tyr-999), with SOCS3. Interacts (via the phosphorylated Tyr-1185, Tyr-1189, Tyr-1190) with SOCS1. Interacts with CAV2 (tyrosine-phosphorylated form); the interaction is increased with 'Tyr-27'phosphorylation of CAV2 (By similarity). Interacts with ARRB2 (By similarity). Interacts with GRB10; this interaction blocks the association between IRS1/IRS2 and INSR, significantly reduces insulin-stimulated tyrosine phosphorylation of IRS1 and IRS2 and thus decreases insulin signaling. Interacts with GRB7. Interacts with PDPK1. Interacts (via Tyr-1190) with GRB14 (via BPS domain); this interaction protects the tyrosines in the activation loop from dephosphorylation, but promotes dephosphorylation of Tyr-999, this results in decreased interaction with, and phosphorylation of, IRS1. Interacts (via subunit alpha) with ENPP1 (via 485-599 AA); this interaction blocks autophosphorylation. Interacts with PTPRE; this interaction is dependent of Tyr-1185, Tyr-1189…
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry may be involved in disease pathogenesis.
messages: The tetrameric insulin receptor binds insulin via non-identical regions from two alpha chains, primarily via the C-terminal region of the first INSR alpha chain. Residues from the leucine-rich N-terminus of the other INSR alpha chain also contribute to this insulin binding site. A secondary insulin-binding site is formed by residues at the junction of fibronectin type-III domain 1 and 2.

9606:OR6P1
gene id: 9606:OR6P1
uniprot id: A0A126GV72
uniprot id: Q8NGX9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:HGD
gene id: 9606:HGD
uniprot id: B3KW64
uniprot id: Q93099
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the homogentisate dioxygenase family.
messages: Catalyzes the conversion of homogentisate to maleylacetoacetate.
messages: Highest expression in the prostate, small intestine, colon, kidney and liver.
messages: Homohexamer arranged as a dimer of trimers.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:VIPR2
gene id: 9606:VIPR2
uniprot id: P41587
uniprot id: X5D7Q6
uniprot id: X5DP12
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 2 family.
messages: Cell membrane
messages: Expressed in CD4+ T-cells, but not in CD8+ T-cells. Expressed in the T-cell lines Jurkat, Peer, MOLT-4, HSB, YT and SUP-T1, but not in the T-cell lines HARRIS and HuT 78.
messages: Membrane
messages: This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C.

9606:LRP6
gene id: 9606:LRP6
uniprot id: O75581
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the LDLR family.
messages: Cell membrane
messages: Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Required for posterior patterning of the epiblast during gastrulation (By similarity).
messages: Decreased levels on WNT3A stimulation.
messages: Dual phosphorylation of cytoplasmic PPPSP motifs sequentially by GSK3 and CK1 is required for AXIN1-binding, and subsequent stabilization and activation of beta-catenin via preventing GSK3-mediated phosphorylation of beta-catenin. Phosphorylated, in vitro, by GRK5/6 within and outside the PPPSP motifs. Phosphorylation at Ser-1490 by CDK14 during G2/M phase leads to regulation of the Wnt signaling pathway during the cell cycle. Phosphorylation by GSK3B is induced by RPSO1 binding and inhibited by DKK1. Phosphorylated, in vitro, by casein kinase I on Thr-1479.
messages: Endoplasmic reticulum
messages: Homodimer; disulfide-linked. Forms phosphorylated oligomer aggregates on Wnt-signaling. Forms a WNT-signaling complex formed of a WNT protein, a FZD protein and LRP5 or LRP6. Interacts (via the extracellular domain) with WNT1; the interaction is enhanced by prior formation of the Wnt/Fzd complex. Interacts (via the beta-propeller regions 3 and 4) with WNT3A. Interacts (via the beta-propeller regions 1 and 2) with WNT9B. Interacts with FZD5; the interaction forms a coreceptor complex for Wnt signaling and is inhibited by DKK1 and DRAXIN. Interacts (via beta propeller region) with DKK1; the interaction inhibits FZD5/LRP6 complex formation. Interacts with DKK2. Interacts with C1orf187/DRAXIN; the interaction inhibits Wnt signaling (By similarity). Interacts (via the phosphorylated PPPSP motifs) with AXIN1; the interaction recruits the AXIN1/GSK3B complex to cell surface LRP6 signalsomes. Interacts with GRB10; the interaction prevents AXIN1 binding, thus negatively regulating the Wnt signaling pathway (By similarity). Interacts (via the extracellular domain) with RSPO1; the interaction activates Wnt/beta-catenin signaling. Interacts (via the extracellular domain) with RSPO3 (via the cysteine rich domain); the interaction activates Wnt/beta-catenin signaling. Interacts (via the beta-propeller regions 1 and 2) with SOST; the interaction competes with DKK1 for binding for inhibiting beta-catenin signaling. Interacts with MESD; the interaction prevents the formation of LRP6 aggregates and targets LRP6 to the plasma membrane (By similarity). Interacts (via the cytoplasmic domain) with CSNKIE; the interaction phosphorylates LRP6, binds AXIN1 and inhibits AXIN1/GSK3B-mediated phosphorylation of beta-catenin. Interacts with MACF1. Interacts with DAB2; the interaction involves LRP6 phosphorylation by CK2 and sequesters LRP6 towards clathrin-mediated endocytosis. Interacts with TMEM198. Interacts with CAPRIN2; the interaction promotes LRP6 phosphorylation at Ser-1490 (PubMed:1876…
messages: Membrane raft
messages: Mono-ubiquitinated which retains LRP6 in the endoplasmic reticulum. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
messages: N-glycosylation is required for cell surface location.
messages: Palmitoylation on the two sites near the transmembrane domain leads to release of LRP6 from the endoplasmic reticulum.
messages: The PPPSP motifs play a central role in signal transduction by being phosphorylated, leading to activate the Wnt signaling pathway.
messages: The YWTD-EGF-like domains 1 and 2 are required for the interaction with Wnt-frizzled complex. The YWTD-EGF-like domains 3 and 4 are required for the interaction with DKK1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Undergoes gamma-secretase-dependent regulated intramembrane proteolysis (RIP). The extracellular domain is first released by shedding, and then, through the action of gamma-secretase, the intracellular domain (ICD) is released into the cytoplasm where it is free to bind to GSK3B and to activate canonical Wnt signaling.
messages: Widely coexpressed with LRP5 during embryogenesis and in adult tissues.

9606:NID1
gene id: 9606:NID1
uniprot id: P14543
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with FBLN1 and LGALS3BP (By similarity). Interacts with PLXDC1.
messages: N- and O-glycosylated.
messages: Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell-extracellular matrix interactions.
messages: basement membrane

9606:GJB2
gene id: 9606:GJB2
uniprot id: H9U1J4
uniprot id: P29033
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A connexon is composed of a hexamer of connexins.
messages: A hemichannel or connexon is composed of a hexamer of connexins. A functional gap junction is formed by the apposition of two hemichannels (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Interacts with CNST (PubMed:19864490). Forms heteromeric channels with GJB4 (By similarity).
messages: Belongs to the connexin family. Beta-type (group I) subfamily.
messages: Cell membrane
messages: Membrane
messages: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
messages: Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:21094651, PubMed:16849369, PubMed:19384972).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The role of Thr-34 and Ile-37 variants in deafness was unclear (PubMed:9139825, PubMed:9422505, PubMed:14694360, PubMed:17935238 and PubMed:16849369). However, their pathogenicity has been definitely confirmed (PubMed:31160754).
messages: gap junction

9606:CT47A5
gene id: 9606:CT47A5
uniprot id: Q5JQC4
names: Tissue Specificity
messages: Strongly expressed in testis, low expression in placenta, and very low expression in brain.

9606:FOXK1
gene id: 9606:FOXK1
uniprot id: P85037
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed both developing and adult tissues (PubMed:15289879). In adults, significant expression is seen in tumors of the brain, colon and lymph node (PubMed:15289879).
messages: Interacts with SIN3A and SIN3B (via PAH2) to form a complex which represses transcription (By similarity). Component of SIN3A-, but not SIN3B-, containing multiprotein complexes (By similarity). Interacts with FOXO4 and MEF2C; both interactions inhibit FOXO4 and MEF2C transactivation activity (By similarity). Interacts (when phosphorylated) with YWHAE/14-3-3-epsilon; promotes sequestration in the cytoplasm and leads to impaired ability to bind DNA (By similarity). Interacts with FHL2 (By similarity). Interacts with SRF (PubMed:17670796). Interacts with DVL2 and DVL3; the interaction induces DVL2 nuclear translocation (PubMed:25805136). Interacts with BAP1 (when phosphorylated) (PubMed:25451922).
messages: Nucleus
messages: Phosphorylation by GSK3 (GSK3A or GSK3B) promotes interaction with YWHAE/14-3-3-epsilon and retention in the cytoplasm. In response to mTORC1 signaling, phosphorylation by GSK3 is prevented, leading to translocation to the nucleus.
messages: Transcriptional regulator involved in different processes such as glucose metabolism, aerobic glycolysis, muscle cell differentiation and autophagy (By similarity). Recognizes and binds the forkhead DNA sequence motif (5'-GTAAACA-3') and can both act as a transcription activator or repressor, depending on the context (PubMed:17670796). Together with FOXK2, acts as a key regulator of metabolic reprogramming towards aerobic glycolysis, a process in which glucose is converted to lactate in the presence of oxygen (By similarity). Acts by promoting expression of enzymes for glycolysis (such as hexokinase-2 (HK2), phosphofructokinase, pyruvate kinase (PKLR) and lactate dehydrogenase), while suppressing further oxidation of pyruvate in the mitochondria by up-regulating pyruvate dehydrogenase kinases PDK1 and PDK4 (By similarity). Probably plays a role in gluconeogenesis during overnight fasting, when lactate from white adipose tissue and muscle is the main substrate (By similarity). Involved in mTORC1-mediated metabolic reprogramming: in response to mTORC1 signaling, translocates into the nucleus and regulates the expression of genes associated with glycolysis and downstream anabolic pathways, such as HIF1A, thereby regulating glucose metabolism (By similarity). Together with FOXK2, acts as a negative regulator of autophagy in skeletal muscle: in response to starvation, enters the nucleus, binds the promoters of autophagy genes and represses their expression, preventing proteolysis of skeletal muscle proteins (By similarity). Acts as a transcriptional regulator of the myogenic progenitor cell population in skeletal muscle (By similarity). Binds to the upstream enhancer region (CCAC box) of myoglobin (MB) gene, regulating the myogenic progenitor cell population (By similarity). Promotes muscle progenitor cell proliferation by repressing the transcriptional activity of FOXO4, thereby inhibiting myogenic differentiation (By similarity). Involved in remodeling processes of adu…

9606:GBE1
gene id: 9606:GBE1
uniprot id: Q04446
uniprot id: Q59ET0
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the glycosyl hydrolase 13 family. GlgB subfamily.
messages: Binds its carbohydrate substrate close to the active site, but also via regions close to the N-terminus; this may result in increased affinity and therefore increased catalytic efficiency.
messages: Monomer.
messages: Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
messages: Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CD300LF
gene id: 9606:CD300LF
uniprot id: Q8TDQ1
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as an inhibitory receptor for myeloid cells and mast cells (PubMed:15549731). Positively regulates the phagocytosis of apoptotic cells (efferocytosis) via phosphatidylserine (PS) recognition; recognizes and binds PS as a ligand which is expressed on the surface of apoptotic cells. Plays an important role in the maintenance of immune homeostasis, by promoting macrophage-mediated efferocytosis and by inhibiting dendritic cell-mediated efferocytosis (By similarity). Negatively regulates Fc epsilon receptor-dependent mast cell activation and allergic responses via binding to ceramide and sphingomyelin which act as ligands (PubMed:24035150). May act as a coreceptor for interleukin 4 (IL-4). Associates with and regulates IL-4 receptor alpha-mediated responses by augmenting IL-4- and IL-13-induced signaling (By similarity). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 and TRIF through activation of PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:22043923). Inhibits osteoclast formation. Induces macrophage cell death upon engagement (By similarity).
messages: Belongs to the CD300 family.
messages: Cell membrane
messages: Highly expressed in spleen, peripheral blood leukocyte and monocyte, and lung. Weakly expressed in thymus, heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, prostate, testis, ovary, small intestine or colon. Expressed selectively in monocytes and monocyte-related cells.
messages: Interacts with PTPN6/SHP-1 in a tyrosine phosphorylation dependent manner (PubMed:15184070, PubMed:15549731). Interacts with IL4R (By similarity).
messages: Phosphorylated on tyrosine.

9606:LRP5
gene id: 9606:LRP5
uniprot id: O75197
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:15778503, PubMed:11719191, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass (PubMed:11719191). Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs (PubMed:11336703, PubMed:25920554, PubMed:24706814, PubMed:14731402). Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development (PubMed:27228167, PubMed:16252235). Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity).
messages: Belongs to the LDLR family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Endoplasmic reticulum
messages: Genetic variations in LRP5 define the bone mineral density quantitative trait locus 1 (BMND1) [MIM:601884]. Variance in bone mineral density influences bone mass and contributes to size determination in the general population.
messages: Homodimer; disulfide-linked. Forms phosphorylated oligomer aggregates on Wnt-signaling (By similarity). Component of a Wnt-signaling complex that contains a WNT protein, a FZD protein and LRP5 or LRP6. Interacts with FZD8; the interaction is formed on WNT-binding and signaling (PubMed:11448771). Interacts (via the phosphorylated PPPSP motif domains) with AXIN1; the interaction prevents inhibition of beta-catenin phosphorylation and signaling and is enhanced in the presence of GSK3B and WNT1 or WNT3A (PubMed:11336703, PubMed:14731402). Interacts (via beta-propeller regions 3 and 4) with DKK1; the interaction, enhanced by MESD and/or KREMEN, inhibits beta-catenin signaling by preventing GSK3-mediated phosphorylation of the PPPSP motifs and subsequent, AXIN1 binding (PubMed:11448771, PubMed:15778503, PubMed:19746449). Interacts with MESD; the interaction prevents the formation of LRP5 aggregates, targets LRP5 to the plasma membrane and, when complexed with KREMEN2, increases DKK1 binding (PubMed:17488095, PubMed:19746449, PubMed:15143163). Interacts with CSNK1E (PubMed:16513652). Interacts with SOST; the interaction antagonizes canonical Wnt signaling (PubMed:15778503, PubMed:15908424). Interacts with APCDD1 (PubMed:20393562). Interacts with CAPRIN2 (PubMed:18762581).
messages: LRP5 variations may act as a disease modifier in autosomal dominant polycystic kidney disease (ADPKD) in patients who have causative mutations in PKD1. May contribute to the disease phenotype heterogeneity and hepatic cystogenesis.
messages: Membrane
messages: Phosphorylation of cytoplasmic PPPSP motifs regulates the signal transduction of the Wnt signaling pathway through acting as a docking site for AXIN1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed, with the highest level of expression in the liver and in aorta.

9606:PSMA7
gene id: 9606:PSMA7
uniprot id: A0A0K0K1K4
uniprot id: O14818
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HIV-1 TAT protein.
messages: (Microbial infection) Interacts with hepatitis B virus X protein (HBX).
messages: Belongs to the peptidase T1A family.
messages: Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Inhibits the transactivation function of HIF-1A under both normoxic and hypoxia-mimicking conditions. The interaction with EMAP2 increases the proteasome-mediated HIF-1A degradation under the hypoxic conditions. Plays a role in hepatitis C virus internal ribosome entry site-mediated translation. Mediates nuclear translocation of the androgen receptor (AR) and thereby enhances androgen-mediated transactivation. Promotes MAVS degradation and thereby negatively regulates MAVS-mediated innate immune response.
messages: Cytoplasm
messages: Down-regulated by the ribozyme Rz3'X. Up-regulated in colorectal cancer tissues.
messages: Nucleus
messages: Phosphorylation by ABL1 or ABL2 leads to an inhibition of proteasomal activity and cell cycle transition blocks.
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits (PubMed:25599644, PubMed:26133119, PubMed:27342858, PubMed:27428775, PubMed:27493187, PubMed:34711951). The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings (PubMed:25599644, PubMed:26133119, PubMed:27342858, PubMed:27428775, PubMed:27493187, PubMed:34711951). The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits (PubMed:25599644, PubMed:26133119, PubMed:27342858, PubMed:27428775, PubMed:27493187, PubMed:34711951). The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7 (PubMed:25599644, PubMed:26133119, PubMed:27342858, PubMed:27428775, PubMed:27493187, PubMed:34711951). PSMA7 interacts directly with the PSMG1-PSMG2 heterodimer which promotes 20S proteasome assembly (PubMed:16251969). Interacts with HIF1A (PubMed:11389899). Interacts with RAB7A (PubMed:14998988). Interacts with PRKN (PubMed:15987638). Interacts with ABL1 and ABL2 (PubMed:16678104). Interacts with EMAP2 (PubMed:19362550). Interacts with MAVS (PubMed:19734229).
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits.

9606:APCS
gene id: 9606:APCS
uniprot id: P02743
uniprot id: V9HWP0
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the pentraxin family.
messages: Binds 2 calcium ions per subunit.
messages: Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin.
messages: Found in serum and urine.
messages: Homopentamer. Pentaxin (or pentraxin) have a discoid arrangement of 5 non-covalently bound subunits.
messages: Homopentamer. Pentraxin (or pentaxin) have a discoid arrangement of 5 non-covalently bound subunits.
messages: N-glycosylated with a complex biantennary oligosaccharide chain with a sialic acid at the end (disialo-SAP). Monosialo-SAP as well as asioalo-SAP are also detected (PubMed:15174148).
messages: SAP is a precursor of amyloid component P which is found in basement membrane and associated with amyloid deposits.
messages: Secreted

9606:OR2M7
gene id: 9606:OR2M7
uniprot id: A0A126GVZ1
uniprot id: Q8NG81
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:B3GNTL1
gene id: 9606:B3GNTL1
uniprot id: Q67FW5
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 2 family.
messages: Putative glycosyltransferase.
messages: Widely expressed. Highly expressed in adult pancreas. Expressed at moderate level in kidney, spleen, thymus, prostate, testis and ovary. Weakly expressed in small intestine, colon, peripheral blood leukocyte and liver.

9606:TMEM63B
gene id: 9606:TMEM63B
uniprot id: Q5T3F8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Acts as an osmosensitive calcium-permeable cation channel (By similarity). Mechanosensitive ion channel that converts mechanical stimuli into a flow of ion (By similarity).
messages: Belongs to the CSC1 (TC 1.A.17) family.
messages: Cell membrane

9606:B3GAT3
gene id: 9606:B3GAT3
uniprot id: G3V150
uniprot id: O94766
uniprot id: Q5U676
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 43 family.
messages: Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).
messages: Golgi apparatus membrane
messages: Homodimer; disulfide-linked. Interacts with PXYLP1; the interaction increases the 2-phosphoxylose phosphatase activity of PXYLP1 during completion of linkage region formation in a B3GAT3-mediated manner.
messages: Inhibited by EDTA.
messages: Membrane
messages: N-glycosylated.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous (but weakly expressed in all tissues examined).
messages: cis-Golgi network

9606:PCDHGA2
gene id: 9606:PCDHGA2
uniprot id: Q9Y5H1
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:SLF1
gene id: 9606:SLF1
uniprot id: Q9BQI6
names: Domain
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: BRCT domains are necessary for its targeting to ionizing radiation-induced nuclear foci.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Interacts (via N-terminus) with SLF2; this interaction links RAD18 to the SMC5-SMC6 complex (PubMed:25931565). Interacts (via BRCT domains) with RAD18; this interaction occurs in a SLF2-independent manner (PubMed:25931565). Interacts with SMC6 (PubMed:25931565). Interacts (via BRCT domains) with RAD18 (via C-terminus and phosphorylated form); this interaction is required for efficient repair of UV-induced DNA damage (By similarity).
messages: Nucleus
messages: Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of SLF2 and the SMC5-SMC6 complex to DNA lesions (PubMed:25931565).
messages: centrosome

9606:FCN1
gene id: 9606:FCN1
uniprot id: O00602
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ficolin lectin family.
messages: Cell membrane
messages: Extracellular lectin functioning as a pattern-recognition receptor in innate immunity. Binds the sugar moieties of pathogen-associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8 (PubMed:21037097). Binds preferentially to 9-O-acetylated 2-6-linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage.
messages: Homotrimer (PubMed:17897951). Interacts with elastin/ELN. Interacts (via Fibrinogen C-terminal domain) with FFAR2. Interacts with CRP; may regulate monocyte activation by FCN1.
messages: Peripheral blood leukocytes, monocytes and granulocytes. Also detected in spleen, lung, and thymus, may be due to the presence of tissue macrophages or trapped blood in these tissues. Not detected on lymphocytes.
messages: Secreted
messages: The fibrinogen C-terminal domain mediates calcium-dependent binding to carbohydrates and tethering to the cell surface in monocytes and granulocytes. The domain undergoes a conformational switch at pH under 6.2, and looses its carbohydrate-binding ability.

9606:UCHL5
gene id: 9606:UCHL5
uniprot id: Q9Y5K5
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Activated by ADRM1. Inhibited by interaction with NFRKB.
messages: Belongs to the peptidase C12 family.
messages: Component of the 19S (PA700) regulatory complex of the 26S proteasome. Interacts with ADRM1 and NFRKB; in vitro ADRM1 and NFRKB compete for interaction with UCHL5. Component of the INO80 complex; specifically part of a complex module associated with N-terminus of INO80.
messages: Cytoplasm
messages: Nucleus
messages: Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1.

9606:SPRR3
gene id: 9606:SPRR3
uniprot id: Q9UBC9
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the cornifin (SPRR) family.
messages: Cross-linked envelope protein of keratinocytes.
messages: Cytoplasm
messages: During squamous differentiation of epidermal keratinocytes.

9606:VAMP4
gene id: 9606:VAMP4
uniprot id: O75379
uniprot id: Q6IAZ3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the synaptobrevin family.
messages: Identified in a complex containing STX6, STX12, VAMP4 and VTI1A (By similarity). Interacts with BAIAP3; this interaction is increased in the presence of calcium (PubMed:28626000).
messages: Involved in the pathway that functions to remove an inhibitor (probably synaptotagmin-4) of calcium-triggered exocytosis during the maturation of secretory granules. May be a marker for this sorting pathway that is critical for remodeling the secretory response of granule.
messages: Membrane
messages: trans-Golgi network membrane

9606:C1GALT1C1
gene id: 9606:C1GALT1C1
uniprot id: Q96EU7
names: Caution
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.
messages: Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
messages: Defects in C1GALT1C1 in Ag104A cell line create a tumor-specific glycopeptidic neo-epitope. This epitope induces a high-affinity, highly specific, syngeneic monoclonal antibody. This is caused by the abolition of function of a glycosyltransferase, disrupting O-glycan Core 1 synthesis.
messages: Membrane
messages: Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.
messages: Was originally (PubMed:12361956) assigned to be a glycosyltransferase. However, it was later shown (Ref.2 and PubMed:12464682) that it has no transferase activity and rather acts as a chaperone.

9606:VPS37D
gene id: 9606:VPS37D
uniprot id: Q86XT2
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the VPS37 family.
messages: Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry. Interacts with TSG101 and MVB12A. Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and UBAP1 in a 1:1:1:1 stoichiometry.
messages: Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.
messages: Late endosome membrane
messages: VPS37D is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

9606:KDM8
gene id: 9606:KDM8
uniprot id: Q8N371
names: Caution
names: Cofactor
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Bifunctional enzyme that acts both as an endopeptidase and 2-oxoglutarate-dependent monooxygenase (PubMed:28847961, PubMed:29459673, PubMed:28982940, PubMed:29563586). Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate 'tailless nucleosomes', which may trigger transcription elongation (PubMed:28847961, PubMed:29459673, PubMed:28982940). Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4. After initial cleavage, continues to digest histones tails via its aminopeptidase activity (PubMed:28847961, PubMed:29459673). Upon DNA damage, cleaves the N-terminal tail of histone H3 at monomethylated lysine residues, preferably at monomethylated 'Lys-9' (H3K9me1). The histone variant H3F3A is the major target for cleavage (PubMed:28982940). Additionnally, acts as Fe(2+) and 2-oxoglutarate-dependent monooxygenase, catalyzing (R)-stereospecific hydroxylation at C-3 of 'Arg-137' of RPS6 and 'Arg-141' of RCCD1, but the biological significance of this activity remains to be established (PubMed:29563586). Regulates mitosis through different mechanisms: Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with RCCD1. Possibly together with RCCD1, is involved in proper mitotic spindle organization and chromosome segregation (PubMed:24981860). Negatively regulates cell cycle repressor CDKN1A/p21, which controls G1/S phase transition (PubMed:24740926). Required for G2/M phase cell cycle progression. Regulates expression of CCNA1/cyclin-A1, leading to cancer cell proliferation (PubMed:20457893). Also, plays a role in regulating alpha-tubulin acetylation and cytoskeletal microtubule stability involved in epithelial to mesenchymal transition (PubMed:28455245). Regulates the circadian gene expression in the liver (By similarity). Represses the transcriptional acti…
messages: Binds 1 Fe(2+) ion per subunit.
messages: Can form homodimers (via JmjC domain) (PubMed:24100311, PubMed:28982940). Found in a complex with RCCD1 (PubMed:24981860). Interacts (via N-terminus) with RCCD1 (via N-terminus); this interaction stimulates H3K36me3 and H3K36me2 demethylation (PubMed:28455245, PubMed:24981860). Interacts (via JmjC domain) with H3C1 (PubMed:28982940). Interacts with FBXL3 and PSMD2 (By similarity). Interacts with CRY1 in a FBXL3-dependent manner (By similarity).
messages: Chromosome
messages: Nucleus
messages: The demethylase activity of JMJD5 is controversial. Demethylase activity toward H3K36me2 was observed in vivo and in vitro (PubMed:20457893). In addition, demethylase activity toward H3K36me3 when in a complex with RCCD1 has been observed (PubMed:24981860). In contrast, in other studies, JMJD5 was shown not to display any demethylase activity toward methylated H3K36 nor toward other methyllysines in the N-terminal tails of H3 and H4 in vitro (PubMed:28982940, PubMed:22851697, PubMed:24100311).
messages: Up-regulated upon starvation, DNA replication stress, UV treatment and by camptothecin and etoposide treatment.
messages: Weakly expressed in most cells. Highly expressed in breast cancer cells (PubMed:20457893). Expressed in embryonic stem cells (PubMed:24740926).

9606:PNPT1
gene id: 9606:PNPT1
uniprot id: Q8TCS8
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the polyribonucleotide nucleotidyltransferase family.
messages: Cytoplasm
messages: Homotrimer; in free form (PubMed:19509288). Homooligomer (PubMed:19509288). Component of the mitochondrial degradosome (mtEXO) complex which is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1 (PubMed:19509288, PubMed:29967381). As part of the mitochondrial degradosome complex, interacts with GRSF1 in an RNA-dependent manner; the interaction enhances the activity of the complex (PubMed:29967381). Interacts with TCL1A; the interaction has no effect on PNPT1 exonuclease activity (PubMed:16934922).
messages: Mitochondrion intermembrane space
messages: Mitochondrion matrix
messages: RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). Required for correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the mRNA and protein levels. In the cytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221, preferentially. Also plays a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNA.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated in cells upon senescence and terminal differentiation. Up-regulated after treatment with IFNB1/IFN-beta.

9606:INTS9
gene id: 9606:INTS9
uniprot id: Q9NV88
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Although strongly related to RNA-specific endonuclease proteins, it lacks the HXHXDH motif that binds zinc and participates in the catalytic center. Its function as endonuclease is therefore unsure.
messages: Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. INTS9 subfamily.
messages: Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L and INTS12 (PubMed:16239144). Interacts with ESRRB, ESRRB is probably not a core component of the multiprotein complex Integrator and this association is a bridge for the interaction with the multiprotein complex Integrator; attracts the transcriptional machinery (By similarity).
messages: Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).
messages: Nucleus

9606:HAUS3
gene id: 9606:HAUS3
uniprot id: Q68CZ6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the HAUS3 family.
messages: Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Interacts with EML3 (phosphorylated at 'Thr-881') (PubMed:30723163).
messages: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.
messages: centrosome
messages: spindle

9606:OR2G6
gene id: 9606:OR2G6
uniprot id: A0A126GW53
uniprot id: Q5TZ20
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:DPH2
gene id: 9606:DPH2
uniprot id: B3KRB8
uniprot id: Q9BQC3
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the DPH1/DPH2 family. DPH2 subfamily.
messages: Binds 1 [4Fe-4S] cluster per subunit. The cluster facilitates the reduction of the catalytic iron-sulfur cluster in the DPH1 subunit.
messages: Component of the 2-(3-amino-3-carboxypropyl)histidine synthase complex composed of DPH1, DPH2, DPH3 and a NADH-dependent reductase (By similarity). Interacts with DPH1 (By similarity).
messages: Defects in DPH2 may be the cause of diphthamide-deficiency syndrome (PubMed:32576952). Affected individuals may present with infantile macrocephaly, developmental delay, short stature, dysmorphic craniofacial features, and congenital heart disease (PubMed:32576952).
messages: Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:32576952). DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase (By similarity). Facilitates the reduction of the catalytic iron-sulfur cluster found in the DPH1 subunit (By similarity).
messages: Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2. DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase. Facilitates the reduction of the catalytic iron-sulfur cluster found in the DPH1 subunit.
messages: Strongly expressed in skeletal muscle. Moderately expressed in heart, small intestine, liver, pancreas, testis and colon. Weakly expressed in brain, placenta, kidney, spleen, thymus, prostate, ovary and lymphocytes.

9606:CFHR5
gene id: 9606:CFHR5
uniprot id: Q9BXR6
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype.
messages: Expressed by the liver and secreted in plasma.
messages: Head-to-tail homodimer and heterodimer with CFHR1 or CFHR2. Binds C3b in vitro.
messages: Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SLC7A1
gene id: 9606:SLC7A1
uniprot id: A0A024RDQ9
uniprot id: P30825
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
messages: Cell membrane
messages: High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues.
messages: Interacts with TM4SF5; the interaction is negatively regulated by arginine (PubMed:30956113). Forms tissue-specific complexes with ASL, ASS1 and nitric oxide synthase NOS1 or NOS3; the complex regulates cell-autonomous L-arginine synthesis and citrulline recycling while channeling extracellular L-arginine to nitric oxide synthesis pathway (By similarity).
messages: Membrane
messages: Ubiquitous.

9606:MAD2L1BP
gene id: 9606:MAD2L1BP
uniprot id: Q15013
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MAD2L1BP family.
messages: During the cell cycle, levels increase and then remain constant until late mitosis after which they drop.
messages: Interacts with MAD2L1.
messages: May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex.
messages: Nucleus
messages: spindle

9606:PRR4
gene id: 9606:PRR4
uniprot id: Q16378
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Abundantly expressed in lacrimal gland where it is found in the acinar cells but not in the intralobular ducts. Also found in the submandibular gland, the parotid and sublingual glands.
messages: Secreted

9606:KIAA1549L
gene id: 9606:KIAA1549L
uniprot id: Q6ZVL6
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the UPF0606 family.
messages: Membrane

9606:RTL10
gene id: 9606:RTL10
uniprot id: Q7L3V2
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Could induce apoptosis in a BH3 domain-dependent manner. The direct interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity.
messages: Interacts (via BH3 domain) with VDAC1. Interacts with pro-survival Bcl-2 family members, BCL2, BCL2L1 isoform Bcl-X(L), MCL1, BCL2A1 and BCL2L2. Interacts with BAX and BAK1.
messages: Mitochondrion
messages: The BH3 motif is required for pro-apoptotic activity and for interaction with pro-survival Bcl-2 family members.
messages: Ubiquitously expressed.

9606:PLPPR5
gene id: 9606:PLPPR5
uniprot id: Q32ZL2
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the PA-phosphatase related phosphoesterase family.
messages: Cell membrane
messages: Has most probably no lipid phosphatase activity (By similarity). Critical residues that support the reaction mechanism in active members of that protein family, including the residues of the active site acting respectively as proton donor and nucleophile, are not conserved.
messages: Induces filopodia formation and promotes neurite growth in a CDC42-independent manner; impedes neurite growth inhibitory-mediated axonal retraction.
messages: Isoform 1 is expressed in brain, lung, kidney and colon. Isoform 2 is expressed in placenta, skeletal muscle and kidney.

9606:NME2
gene id: 9606:NME2
uniprot id: F6XY72
uniprot id: P22392
uniprot id: Q6FHN3
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Based on a naturally occurring readthrough transcript which produces an NME1-NME2 fusion protein.
messages: Belongs to the NDK family.
messages: Cytoplasm
messages: Hexamer of two different chains: A and B (A6, A5B, A4B2, A3B3, A2B4, AB5, B6) (PubMed:1851158). Interacts with CAPN8 (By similarity). Interacts with AKAP13 (PubMed:15249197). Interacts ITGB1BP1 (via C-terminal domain region) (PubMed:11919189). Interacts with BCL2L10 (PubMed:17532299).
messages: Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (By similarity). Negatively regulates Rho activity by interacting with AKAP13/LBC (PubMed:15249197). Acts as a transcriptional activator of the MYC gene; binds DNA non-specifically (PubMed:8392752, PubMed:19435876). Binds to both single-stranded guanine- and cytosine-rich strands within the nuclease hypersensitive element (NHE) III(1) region of the MYC gene promoter. Does not bind to duplex NHE III(1) (PubMed:19435876). Has G-quadruplex (G4) DNA-binding activity, which is independent of its nucleotide-binding and kinase activity. Binds both folded and unfolded G4 with similar low nanomolar affinities. Stabilizes folded G4s regardless of whether they are prefolded or not (PubMed:25679041). Exhibits histidine protein kinase activity (PubMed:20946858).
messages: Nucleus
messages: Ubiquitously expressed.
messages: lamellipodium
messages: perinuclear region
messages: ruffle

9606:CSTF1
gene id: 9606:CSTF1
uniprot id: Q05048
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Homodimer (PubMed:10669729). The CSTF complex is composed of CSTF1 (50 kDa subunit), CSTF2 (64 kDa subunit) and CSTF3 (77 kDa subunit) (PubMed:10669729). Interacts (via repeats WD) directly with CSTF3 (PubMed:10669729). Interacts (via repeat WD6) with BARD1 (PubMed:10477523). Interacts with ERCC6 (PubMed:26030138).
messages: N-terminus mediates homodimerization.
messages: Nucleus
messages: One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs (PubMed:10669729). May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA (PubMed:10669729).
messages: The N-terminus is blocked.

9606:CD6
gene id: 9606:CD6
uniprot id: P30203
uniprot id: Q6AZ88
uniprot id: Q8N4Q7
names: Caution
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: After T-cell activation, becomes hyperphosphorylated on Ser and Thr residues and phosphorylated on Tyr residues.
messages: Cell adhesion molecule that mediates cell-cell contacts and regulates T-cell responses via its interaction with ALCAM/CD166 (PubMed:15048703, PubMed:15294938, PubMed:16352806, PubMed:16914752, PubMed:24945728, PubMed:24584089). Contributes to signaling cascades triggered by activation of the TCR/CD3 complex (PubMed:24584089). Functions as costimulatory molecule; promotes T-cell activation and proliferation (PubMed:15294938, PubMed:16352806, PubMed:16914752). Contributes to the formation and maturation of the immunological synapse (PubMed:15294938, PubMed:16352806). Functions as calcium-dependent pattern receptor that binds and aggregates both Gram-positive and Gram-negative bacteria. Binds both lipopolysaccharide (LPS) from Gram-negative bacteria and lipoteichoic acid from Gram-positive bacteria (PubMed:17601777). LPS binding leads to the activation of signaling cascades and down-stream MAP kinases (PubMed:17601777). Mediates activation of the inflammatory response and the secretion of pro-inflammatory cytokines in response to LPS (PubMed:17601777).
messages: Cell membrane
messages: Detected on thymocytes (PubMed:15294938). Detected on peripheral blood T-cells (PubMed:15048703, PubMed:16352806). Detected on natural killer (NK) cells (PubMed:16352806). Soluble CD6 is detected in blood serum (at protein level) (PubMed:17601777). Detected in spleen, thymus, appendix, lymph node and peripheral blood leukocytes (PubMed:9013954). Expressed by thymocytes, mature T-cells, a subset of B-cells known as B-1 cells, and by some cells in the brain.
messages: Glycosylated.
messages: Interacts (via extracellular domain) with ALCAM/CD166 (via extracellular domain) (PubMed:15048703, PubMed:16352806, PubMed:16914752, PubMed:24945728, PubMed:26146185). Interacts with the TCR/CD3 complex subunit CD3E (PubMed:15294938). Interacts (via tyrosine phosphorylated C-terminus) with LCP2 (via SH2 domain) (PubMed:16914752). Interacts with VAV1 (By similarity). Interacts (via glycosylated extracellular domain) with LGALS1 and LGALS3 (PubMed:24945728). Interaction with LGALS1 or LGALS3 inhibits interaction with ALCAM (PubMed:24945728).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Lacks the third SRCR domain and doesn't bind ALCAM/CD166. Doesn't localize to the immunological synapse.
messages: Lacks the third SRCR domain and doesn't bind ALCAM/CD166. Doesn't localize to the immunological synapse. Constitutes the only expressed species in a small percentage of T-cells.
messages: Secreted

9606:CD164
gene id: 9606:CD164
uniprot id: D6R9B4
uniprot id: Q04900
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CD164 family.
messages: Cell membrane
messages: Endosome membrane
messages: Highly N- and O-glycosylated; contains sialic acid.
messages: Homodimer (isoform 4). Interacts with CXCR4.
messages: Isoform 1 and isoform 3 are expressed in hematopoietic and non-hematopoietic tissues. Isoform 1 is expressed by prostate cancer tumors and prostate cancer cell lines. The expression is greater in bone metastases than in primary tumors. Expression in osseous metastasis is greater than that in soft tissue metastasis. Isoform 2 is expressed in the small intestine, colon, lung, thyroid and in colorectal and pancreatic adenocarcinoma. Isoform 4 is expressed by both hematopoietic progenitor cells and bone marrow stromal cells.
messages: Lysosome membrane
messages: Membrane
messages: Secreted
messages: Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The motif Ser-Gly may serve as the site of attachment of a glycosaminoglycan side chain.
messages: Up-regulated by CXCL12 in prostate cancer cell lines.

9606:MTPN
gene id: 9606:MTPN
uniprot id: P58546
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the myotrophin family.
messages: Cytoplasm
messages: Interacts with RELA (By similarity). Interacts with the heterodimer formed by CAPZA1 and CAPZB.
messages: Nucleus
messages: Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy.
messages: This protein is produced by a bicistronic gene which also produces the MPD6 protein from a non-overlapping reading frame. MPD6 belongs to a group of cryptic antigens without conventional genomic structure. It is encoded by a cryptic open reading frame located in the 3'-untranslated region of MTPN.
messages: Ubiquitous.
messages: Up-regulated in heart left ventricle of patients with severe coronary artery disease and history of myocardial ischemia. Up-regulated in heart left ventricle of patients with dilated cardiomyopathy.
messages: perinuclear region

9606:ZNF446
gene id: 9606:ZNF446
uniprot id: Q8NDK2
uniprot id: Q9NWS9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:NAT14
gene id: 9606:NAT14
uniprot id: Q8WUY8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the camello family.
messages: Expressed in K-562 and HeLa cell lines and in brain.
messages: May act as a transcription factor that regulates the expression of coproporphyrinogen oxidase by binding to a promoter regulatory element.
messages: Membrane
messages: Probable acetyltransferase.

9606:POLR3F
gene id: 9606:POLR3F
uniprot id: Q05DB8
uniprot id: Q9H1D9
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eukaryotic RPC34/RPC39 RNA polymerase subunit family.
messages: Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits. RPC3/POLR3C, RPC6/POLR3F and RPC7/POLR3G form a Pol III subcomplex (By similarity). Directly interacts with POLR3C (PubMed:21358628). Interacts with TBP and TFIIIB90 and GTF3C4 (By similarity) (PubMed:10523658). Interacts with MAF1 (PubMed:18377933). As part of the RNA polymerase III (Pol III) complex, interacts with PKP2 (PubMed:11416169).
messages: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.
messages: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct RNA Pol III binding to the TFIIIB-DNA complex. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses, including varicella zoster virus (PubMed:30211253). Acts as nuclear and cytosolic DNA sensor detecting AT-rich DNA, involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. Preferentially binds double-stranded DNA (dsDNA) (PubMed:21358628).
messages: Nucleus
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:DAB2IP
gene id: 9606:DAB2IP
uniprot id: Q5VWQ8
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving DAB2IP is found in a patient with acute myeloid leukemia (AML). Translocation t(9;11)(q34;q23) with KMT2A/MLL1. May give rise to a KMT2A/MLL1-DAB2IP fusion protein lacking the PH domain (PubMed:14978793).
messages: Cell membrane
messages: Cytoplasm
messages: Down-regulated in prostate cancer and medulloblastoma.
messages: Expressed in endothelial and vascular smooth muscle cells (VSMCs). Expressed in prostate epithelial but poorly in prostate cancer cells. Poorly expressed in medulloblastoma cells compared to cerebellar precursor proliferating progenitor cells (at protein level). Low expression in prostate. Down-regulated in prostate cancer.
messages: Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Also plays a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status in response to pro-inflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs) proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B signaling pathways in endothe…
messages: In response to TNF-alpha-induction, phosphorylated at Ser-728; phosphorylation leads to a conformational change, and thus, increases its association with 14-3-3 proteins, MAP3K5, RIPK1 and TRAF2 in endothelial cells; also stimulates regulatory p85 subunit sequestring and PI3K-p85 complex activity inhibition.
messages: Membrane
messages: On plasma membrane, exists in an inactive form complexed with TNFR1; in response to TNF-alpha, dissociates from TNFR1 complex, translocates to cytoplasm and forms part of an intracellular signaling complex comprising TRADD, RIPK1, TRAF2 and MAP3K5. Interacts with DAB1. Interacts (via NPXY motif) with DAB2 (via PID domain). Interacts (via PH domain) with ERN1 (By similarity). Part of a cytoplasmic complex made of HIPK1, DAB2IP and MAP3K5 in response to TNF-alpha; this complex formation promotes MAP3K5-JNK activation and subsequent apoptosis. Interacts (via N-terminal domain) with JAK2; the interaction occurs in a IFNG/IFN-gamma-dependent manner and inhibits JAK2 autophosphorylation activity. Interacts (via C2 domain) with GSK3B; the interaction stimulates GSK3B kinase activation. Interacts (via C2 domain) with PPP2CA. Interacts (via proline-rich motif) with a regulatory p85 subunit (via SH3 domain) of the PI3K complex; the interaction inhibits the PI3K-AKT complex activity in a TNF-alpha-dependent manner in prostate cancer (PCa) cells. Interacts with AKT1; the interaction is increased in a TNF-alpha-induced manner. Interacts (via C2 domain and active form preferentially) with KDR/VEGFR2 (tyrosine-phosphorylated active form preferentially); the interaction occurs at the late phase of VEGFA response and inhibits KDR/VEGFR2 activity. Interacts (via N-terminus C2 domain) with MAP3K5 ('Ser-966' dephosphorylated form preferentially); the interaction occurs in a TNF-alpha-induced manner. Interacts (via Ras-GAP domain) with the catalytic subunit of protein phosphatase PP2A; the interaction occurs in resting endothelial cells, is further enhanced by TNF-alpha stimulation and is required to bridge PP2A to MAP3K5. Interacts (via C-terminus PER domain) with TRAF2 (via zinc fingers); the interaction occurs in a TNF-alpha-dependent manner. Interacts with 14-3-3 proteins; the interaction occurs in a TNF-alpha-dependent manner. Interacts (via Ras-GAP domain) with RIPK1 (via kinase d…
messages: The C2 and Ras-GAP domains constitutively bind to MAP3K5 and facilitate the release of 14-3-3 proteins from MAP3K5. The PH and Ras-GAP domains, but not the NPXY motif, are crucial for its cell membrane localization and neuronal migration function. The PH domain is necessary but not sufficient to activate the JNK signaling pathway through ERN1 (By similarity). Exists in a closed inactive form by an intramolecular interaction between the N- and the C-terminal domains. The proline-rich motif is critical both for PI3K-AKT activity inhibition and MAP3K5 activation. The PH and C2 domains are necessary for the binding to phosphatidylinositol phosphate. The Ras-GAP domain is necessary for its tumor-suppressive function.
messages: The DAB2IP gene is found epigenetically silenced in numerous aggressive cancers, like prostate cancers and medulloblastoma tumors. Epigenetic suppression of DAB2IP by EZH2 is a major mechanism of DAB2IP inactivation in human prostate cancer and increases metastatic potential (PubMed:20154697, PubMed:22696229).
messages: dendrite

9606:SFT2D3
gene id: 9606:SFT2D3
uniprot id: Q587I9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SFT2 family.
messages: May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex.
messages: Membrane

9606:ITPK1
gene id: 9606:ITPK1
uniprot id: A0A024R6H3
uniprot id: Q13572
names: Caution
names: Cofactor
names: Function
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Acetylation by EP300 and CREBBP destabilizes ITPK1, and down-regulates enzymatic activity. Deacetylated by SIRT1.
messages: Belongs to the ITPK1 family.
messages: Binds 2 magnesium ions per subunit.
messages: Expressed in brain > heart > skeletal muscle = kidney = pancreas = liver = placenta > lung. In brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal cord, occipital lobe, frontal lobe, temporal lobe and putamen.
messages: Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3 (PubMed:11042108, PubMed:8662638). Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5 (PubMed:11042108). This reaction is thought to have regulatory importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential molecule in the hexakisphosphate (InsP6) pathway (PubMed:11042108, PubMed:8662638). Also acts as an inositol polyphosphate phosphatase that dephosphorylates Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4 (PubMed:17616525, PubMed:11909533). May also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in the presence of ADP and magnesium (PubMed:11909533). Probably acts as the rate-limiting enzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death domain (PubMed:11909533, PubMed:12925536, PubMed:17616525). Plays an important role in MLKL-mediated necroptosis. Produces highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which bind to MLKL mediating the release of an N-terminal auto-inhibitory region leading to its activation. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:17616525).
messages: Monomer. Interacts with GPS1/COPS1.
messages: PubMed:11533064 detected some protein kinase activity and ability to phosphorylate transcription factors c-jun/JUN and ATF2. However, PubMed:15762844 showed that it does not have protein kinase activity.

9606:CDC42SE1
gene id: 9606:CDC42SE1
uniprot id: Q9NRR8
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CDC42SE/SPEC family.
messages: Cell membrane
messages: Interacts with CDC42 (in GTP-bound form). Interacts weakly with RAC1 and not at all with RHOA.
messages: Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages.
messages: The CRIB domain mediates interaction with CDC42.
messages: Widely expressed. Expressed at higher level in T-lymphocytes, dendritic and whole blood cells.
messages: cytoskeleton

9606:MYO19
gene id: 9606:MYO19
uniprot id: A0A024R0S9
uniprot id: B4E218
uniprot id: B7Z1T7
uniprot id: Q96H55
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane (PubMed:19932026, PubMed:23568824, PubMed:25447992). Motor protein that moves towards the plus-end of actin filaments (By similarity). Required for mitochondrial inheritance during mitosis (PubMed:25447992). May be involved in mitochondrial transport or positioning (PubMed:23568824).
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Mitochondrion outer membrane
messages: Myosin is a hexamer of 2 heavy chains and 4 light chains: interacts with myosin light chains MYL9 and MYL12B.
messages: The MyMOMA (MYO19-specific mitochondrial outer membrane-association) region mediates association with the mitochondrion outer membrane via electrostatic interaction.
messages: Widely expressed in multiple tissues and cell lines.
messages: cytoskeleton

9606:KCTD7
gene id: 9606:KCTD7
uniprot id: Q96MP8
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cell membrane
messages: Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral problems. The syndrome is considered to be an immune-mediated disorder and may be tumor-associated or idiopathic. OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and subsequent development of generalized epilepsy (PubMed:22638565).
messages: Interacts with CUL3.
messages: May be involved in the control of excitability of cortical neurons.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol

9606:IGFN1
gene id: 9606:IGFN1
uniprot id: Q86VF2
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in skeletal muscle.
messages: Interacts with FLNC (By similarity). Interacts with KY.
messages: Nucleus
messages: Z line

9606:KLHL41
gene id: 9606:KLHL41
uniprot id: O60662
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Interacts with NRAP. Interacts with LASP1. Part of a complex that contains CUL3, RBX1 and KLHL41.
messages: Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells.
messages: M line
messages: Sarcomeric muscle.
messages: Sarcoplasmic reticulum membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination.
messages: cytoskeleton
messages: pseudopodium
messages: ruffle

9606:EEFSEC
gene id: 9606:EEFSEC
uniprot id: P57772
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. SelB subfamily.
messages: Cytoplasm
messages: Nucleus
messages: Translation factor necessary for the incorporation of selenocysteine into proteins. It probably replaces EF-Tu for the insertion of selenocysteine directed by the UGA codon. SelB binds GTP and GDP.

9606:EEF1AKMT3
gene id: 9606:EEF1AKMT3
uniprot id: Q96AZ1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the methyltransferase superfamily. METTL21 family.
messages: Cytoplasm
messages: Interacts with members of the heat shock protein 70 and 90 families and of the TCP-1 chaperonin family, as well as with HSPD1, STIP1 and tubulin; at least some of these proteins may be methylation substrates.
messages: Protein-lysine methyltransferase that selectively mono-, di- and trimethylates 'Lys-165' of the translation elongation factors EEF1A1 and EEF1A2 in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation.
messages: centrosome

9606:CHST3
gene id: 9606:CHST3
uniprot id: Q7LGC8
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
messages: Golgi apparatus membrane
messages: N-glycosylated.
messages: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin (PubMed:9714738, PubMed:9883891, PubMed:15215498). Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices (PubMed:9714738). Catalyzes with a lower efficiency the sulfation of Gal residues of keratan sulfate, another glycosaminoglycan (PubMed:9714738). Can also catalyze the sulfation of the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides (By similarity). May play a role in the maintenance of naive T-lymphocytes in the spleen (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix.

9606:IQCA1L
gene id: 9606:IQCA1L
uniprot id: A6NCM1
names: Similarity
messages: Belongs to the AAA ATPase family.

9606:RAB6A
gene id: 9606:RAB6A
uniprot id: P20340
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with human cytomegalovirus protein UL32.
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Golgi apparatus membrane
messages: Interacts (GTP-bound) with DYNLRB1; the interaction is direct (PubMed:18044744). Interacts with BICD1 (PubMed:12447383). Interacts with BICD2; the interaction is direct (PubMed:12447383, PubMed:25962623, PubMed:20386726, PubMed:23664119). Interacts (GTP-bound) with VPS13B (PubMed:25492866).
messages: Interacts with BICD1 (PubMed:12447383). Interacts (GDP-bound) with DYNLRB1; the interaction is direct (PubMed:18044744). Interacts (GTP-bound) with VPS13B (PubMed:25492866).
messages: Interacts with BICDL1; leads to its accumulation in the pericentrosomal region (By similarity). Interacts with SCYL1BP1 (PubMed:18997784). Interacts with VSP52 (PubMed:15878329). Interacts with RABGAP1 (PubMed:10202141). Interacts with GCC2 (via its GRIP domain) (PubMed:18243103). Interacts with RAB6IP1 (via its RUN 1 domain) (PubMed:19141279). Interacts with TMF1 (PubMed:17698061). Interacts with PIFO (PubMed:20643351). Interacts (GTP-bound) with APBA1/MINT1 isoform 2, also called Mint1_826, but not with isoform 1 (PubMed:23737971). Interacts with RIC1; the interaction is direct with a preference for RAB6A-GDP (PubMed:23091056). Interacts with RGP1; the interaction is direct with a preference for RAB6A-GDP (PubMed:23091056).
messages: Prenylated.
messages: Regulator of COPI-independent retrograde transport from the Golgi apparatus towards the endoplasmic reticulum (ER) (PubMed:25962623). Has a low GTPase activity (PubMed:25962623). Recruits VPS13B to the Golgi membrane (PubMed:25492866). Plays a role in neuron projection development (Probable).
messages: Ubiquitous.
messages: acrosome membrane

9606:LCK
gene id: 9606:LCK
uniprot id: A0A0S2Z3Y8
uniprot id: E9PJ92
uniprot id: P06239
uniprot id: Q573B4
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HIV-1 Nef through its SH3 domain.
messages: (Microbial infection) Interacts with herpes simplex virus 1 UL46; this interaction activates LCK.
messages: A chromosomal aberration involving LCK is found in leukemias. Translocation t(1;7)(p34;q34) with TCRB.
messages: Autophosphorylated on Tyr-394, increasing enzymatic activity, this site is dephosphorylated by PTN22. Phosphorylated on Tyr-505 by CSK, decreasing activity. Dephosphorylated by PTPRC/CD45. Dephosphorylation at Tyr-394 by PTPN2 negatively regulates T-cell receptor signaling.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily.
messages: Binds to the cytoplasmic domain of cell surface receptors, such as AXL, CD2, CD4, CD5, CD8, CD44, CD45 and CD122. Also binds to effector molecules, such as PI4K, VAV1, RASA1, FYB1 and to other protein kinases including CDK1, RAF1, ZAP70 and SYK. Binds to phosphatidylinositol 3'-kinase (PI3K) from T-lymphocytes through its SH3 domain and to the tyrosine phosphorylated form of KHDRBS1/p70 through its SH2 domain. This interaction inhibits its tyrosine-kinase activity. Interacts with SQSTM1. Interacts with phosphorylated LIME1. Interacts with CBLB and PTPRH. Interacts with RUNX3. Forms a signaling complex with EPHA1, PTK2B and PI3-KINASE; upon activation by EFNA1 which may regulate T-lymphocyte migration. Associates with ZAP70 and RHOH; these interactions allow LCK-mediated RHOH and CD3 subunit phosphorylation in the presence of functional ZAP70. Interacts with UNC119; this interaction plays a crucial role in activation of LCK. Interacts with CEACAM1 (via cytoplasmic domain); mediates CEACAM1 phosphorylation resulting in PTPN6 recruitment that dephosphorylates TCR stimulation-induced CD247 and ZAP70 (PubMed:18424730). Interacts with CD160. Interacts with CD48 (PubMed:12007789).
messages: Cell membrane
messages: Expressed specifically in lymphoid cells.
messages: Membrane
messages: Myristoylation is required prior to palmitoylation.
messages: Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells. Plays a key role in T-cell antigen receptor (TCR)-linked signal transduction pathways. Constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors. Association of the TCR with a peptide antigen-bound MHC complex facilitates the interaction of CD4 and CD8 with MHC class II and class I molecules, respectively, thereby recruiting the associated LCK protein to the vicinity of the TCR/CD3 complex. LCK then phosphorylates tyrosine residues within the immunoreceptor tyrosine-based activation motifs (ITAM) of the cytoplasmic tails of the TCR-gamma chains and CD3 subunits, initiating the TCR/CD3 signaling pathway. Once stimulated, the TCR recruits the tyrosine kinase ZAP70, that becomes phosphorylated and activated by LCK. Following this, a large number of signaling molecules are recruited, ultimately leading to lymphokine production. LCK also contributes to signaling by other receptor molecules. Associates directly with the cytoplasmic tail of CD2, which leads to hyperphosphorylation and activation of LCK. Also plays a role in the IL2 receptor-linked signaling pathway that controls the T-cell proliferative response. Binding of IL2 to its receptor results in increased activity of LCK. Is expressed at all stages of thymocyte development and is required for the regulation of maturation events that are governed by both pre-TCR and mature alpha beta TCR. Phosphorylates other substrates including RUNX3, PTK2B/PYK2, the microtubule-associated protein MAPT, RHOH or TYROBP. Interacts with FYB2 (PubMed:27335501).
messages: Palmitoylation regulates association with the plasma membrane and could be mediated by ZDHHC2.
messages: The SH2 domain mediates interaction with SQSTM1. Interaction is regulated by Ser-59 phosphorylation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The relative activities of the inhibitory tyrosine-protein kinase CSK and the activating tyrosine-protein phosphatase PTPRC/CD45 determine the level of LCK activity. These interactions allow rapid and efficient activation of LCK in response to TCR stimulation.
messages: cytosol

9606:ATP13A1
gene id: 9606:ATP13A1
uniprot id: A0A024R7N2
uniprot id: Q9HD20
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
messages: Contains a large substrate-binding pocket that recognizes alpha-helical transmembranes, which alternately faces the endoplasmic reticulum lumen and cytosol, while remaining accessible to the lipid bilayer through a lateral opening. The translocase alternates between two conformations: inward-open (E1) and outward-open (E2) states. Undergoes a series of conformational changes with ATP-binding, phosphorylation of the Asp active site and subsequent dephosphorylation in a Post-Albers cycle (i.e., E1 -> E1-ATP -> E1P-ADP -> E1P -> E2P -> E2-Pi -> E1). A substrate transmembrane helix with a short, preferentially positively charged lumenal segment binds to the outward-open pocket and the E2P-to-E1 transition flips the transmembrane by a switch from the outward-open to inward-open conformation.
messages: Endoplasmic reticulum membrane
messages: Endoplasmic reticulum translocase required to remove mitochondrial transmembrane proteins mistargeted to the endoplasmic reticulum (PubMed:32973005). Acts as a dislocase that mediates the ATP-dependent extraction of mislocalized mitochondrial transmembrane proteins from the endoplasmic reticulum membrane (PubMed:32973005). Specifically binds mitochondrial tail-anchored transmembrane proteins: has an atypically large substrate-binding pocket that recognizes and binds moderately hydrophobic transmembranes with short hydrophilic lumenal domains (PubMed:32973005).
messages: Membrane
messages: Was initially thought to mediate manganese transport (PubMed:24392018). However, it was later shown to specifically bind moderately hydrophobic transmembrane with short hydrophilic lumenal domains that misinsert into the endoplasmic reticulum (PubMed:32973005).

9606:CDKL2
gene id: 9606:CDKL2
uniprot id: A0A140VJG1
uniprot id: Q92772
names: Domain
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
messages: Cytoplasm
messages: Expressed in testis and kidney, and at lower level in brain and lung.
messages: Nucleus
messages: The [NKR]KIAxRE motif seems to be a cyclin-binding region.

9606:ABCA5
gene id: 9606:ABCA5
uniprot id: Q8WWZ7
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ABC transporter superfamily. ABCA family.
messages: Cell membrane
messages: Cholesterol efflux transporter in macrophages that is responsible for APOAI/high-density lipoproteins (HDL) formation at the plasma membrane under high cholesterol levels and participates in reverse cholesterol transport (PubMed:25125465). May play a role in the processing of autolysosomes (By similarity).
messages: Expressed in fetal liver, kidney and brain.
messages: Golgi apparatus membrane
messages: Late endosome membrane
messages: Lysosome membrane
messages: N-glycosylated.
messages: Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. Expressed in both the epithelial and mesenchymal compartments, present within the outer root sheath (ORS) of the hair follicle as well as dermal sheath (PubMed:24831815). Expressed in multiple regions of the brain, including the hippocampus, superior frontal and inferior temporal cortices (PubMed:25125465). Strongly expressed in neurons and moderately in microglia, with only weak expression in astrocytes and oligodendrocytes (PubMed:25125465).

9606:ADAM9
gene id: 9606:ADAM9
uniprot id: Q13443
names: Activity Regulation
names: Caution
names: Cofactor
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds 1 zinc ion per subunit.
messages: Cell membrane
messages: Cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of cells via interactions with integrins.
messages: Has sometimes been referred to as ADAM-12.
messages: Interacts with SH3GL2 and SNX9 through its cytoplasmic tail (PubMed:10531379). Interacts with ITGA6.
messages: May act as alpha-secretase for amyloid precursor protein (APP).
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Phosphorylation is induced in vitro by phorbol-12-myristate-13-acetate (PMA).
messages: Proteolytically cleaved in the trans-Golgi network before it reaches the plasma membrane to generate a mature protein. The removal of the pro-domain occurs via cleavage at two different sites. Processed most likely by a pro-protein convertase such as furin, at the boundary between the pro-domain and the catalytic domain. An additional upstream cleavage pro-protein convertase site (Arg-56/Glu-57) has an important role in the activation of ADAM9.
messages: Secreted
messages: Synthesized as an inactive form which is proteolytically cleaved to generate an active enzyme. Processing at the upstream site is particularly important for activation of the proenzyme, whereas processing at the boundary between the pro-domain and the catalytic domain does not appear to be essential. Inhibited by hydroxamic acid-based inhibitors.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Expressed in chondrocytes. Isoform 2 is highly expressed in liver and heart.

9606:BEND5
gene id: 9606:BEND5
uniprot id: Q7L4P6
names: Domain
names: Function
messages: Acts as a transcriptional repressor (PubMed:23468431).
messages: The BEN domain mediates DNA-binding.

9606:SURF6
gene id: 9606:SURF6
uniprot id: O75683
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SURF6 family.
messages: Binds to both DNA and RNA in vitro, with a stronger binding capacity for RNA. May represent a nucleolar constitutive protein involved in ribosomal biosynthesis or assembly (By similarity).
messages: nucleolus
messages: nucleoplasm

9606:TMEM244
gene id: 9606:TMEM244
uniprot id: Q5VVB8
names: Subcellular Location Annotation
messages: Membrane

9606:EGFLAM
gene id: 9606:EGFLAM
uniprot id: Q63HQ2
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with DAG1 alpha-dystroglycan.
messages: Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity).
messages: O-glycosylated; contains chondroitin sulfate and heparan sulfate.
messages: Presynaptic active zone
messages: Synaptic cleft
messages: Unlikely isoform. Aberrant splice sites.
messages: extracellular matrix

9606:SREBF1
gene id: 9606:SREBF1
uniprot id: P36956
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SREBP family.
messages: COPII-coated vesicle membrane
messages: Efficient DNA binding of the soluble transcription factor fragment requires dimerization with another bHLH protein (PubMed:8402897). Interacts with CEBPA, the interaction produces a transcriptional synergy (By similarity). Interacts with LMNA (By similarity).
messages: Endoplasmic reticulum membrane
messages: Expressed in a wide variety of tissues, most abundant in liver and adrenal gland (PubMed:8402897). In fetal tissues lung and liver shows highest expression (PubMed:8402897).
messages: Forms a tight complex with SCAP, the SCAP-SREBP complex, in the endoplasmic reticulum membrane.
messages: Golgi apparatus membrane
messages: Intron retention.
messages: Isoform expressed only in select tissues, which has higher transcriptional activity compared to SREBP-1C (By similarity). Able to stimulate both lipogenic and cholesterogenic gene expression (PubMed:12177166, PubMed:32497488). Has a role in the nutritional regulation of fatty acids and triglycerides in lipogenic organs such as the liver (By similarity). Required for innate immune response in macrophages by regulating lipid metabolism (By similarity).
messages: Key transcription factor that regulates expression of genes involved in cholesterol biosynthesis and lipid homeostasis (PubMed:8402897, PubMed:12177166, PubMed:32322062). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3') (PubMed:8402897, PubMed:12177166). Regulates the promoters of genes involved in cholesterol biosynthesis and the LDL receptor (LDLR) pathway of sterol regulation (PubMed:8402897, PubMed:12177166, PubMed:32322062).
messages: Nucleus
messages: Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene expression (By similarity). Phosphorylation at Ser-402 by SIK1 represses activity possibly by inhibiting DNA-binding (By similarity).
messages: Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 1), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity).
messages: Predominant isoform expressed in most tissues, which has weaker transcriptional activity compared to isoform SREBP-1A (By similarity). Primarily controls expression of lipogenic gene (PubMed:12177166). Strongly activates global lipid synthesis in rapidly growing cells (By similarity).
messages: Predominantly expressed in liver and adipose tissues (PubMed:8402897). Also expressed in kidney, brain, white fat, and muscle (PubMed:8402897).
messages: Predominates in hepatoma cell lines (PubMed:8402897). Also expressed in kidney, brain, white fat, and muscle (PubMed:8402897).
messages: Processed in the Golgi apparatus, releasing the protein from the membrane (PubMed:8626610, PubMed:32322062). At low cholesterol the SCAP-SREBP complex is recruited into COPII vesicles for export from the endoplasmic reticulum (PubMed:8626610, PubMed:32322062). In the Golgi, complex SREBPs are cleaved sequentially by site-1 (MBTPS1, S1P) and site-2 (MBTPS2, S2P) protease (PubMed:8626610, PubMed:32322062). The first cleavage by site-1 protease occurs within the luminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain, releasing the transcription factor from the Golgi membrane (PubMed:32322062).
messages: The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
messages: The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated; the nuclear form has a rapid turnover and is rapidly ubiquitinated and degraded by the proteasome in the nucleus.

9606:RNF225
gene id: 9606:RNF225
uniprot id: M0QZC1
names: Subcellular Location Annotation
messages: Membrane

9606:CHST13
gene id: 9606:CHST13
uniprot id: Q8NET6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sulfotransferase 2 family.
messages: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Transfers sulfate to the C4 hydroxyl of beta1,4-linked GalNAc that is substituted with a beta-linked glucuronic acid at the C-3 hydroxyl. No activity toward dermatan.
messages: Golgi apparatus membrane
messages: Highly expressed in adult liver. Expressed at lower level in kidney, lymph nodes and fetal kidney.

9606:SMIM11
gene id: 9606:SMIM11
uniprot id: P58511
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in heart, spleen, liver, stomach, muscle, lung, testis, skin, PBL and bone marrow.
messages: Membrane

9606:SPRY3
gene id: 9606:SPRY3
uniprot id: O43610
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the sprouty family.
messages: By FGF signaling (PubMed:9458049). Repressed by microRNA-143-3P, which results in activation of MAPK signaling and promotion of excess accumulation of extracellular matrix. May thereby play a role in myocardial fibrosis (PubMed:30878395).
messages: Cytoplasm
messages: Inhibits neurite branching, arbor length and neurite complexity (By similarity). Inhibits EGF-mediated p42/44 ERK signaling (By similarity). Negatively regulates the MAPK cascade, resulting in a reduction of extracellular matrix protein accumulation (PubMed:30878395). May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis (PubMed:9458049).
messages: Interacts with TESK1 (PubMed:17974561). Interacts with USP11 (PubMed:29293652). Interacts with CAV1 (via C-terminus) (By similarity).
messages: The gene coding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes.
messages: Widely expressed; particularly in the fetal tissues. Expressed in the brain with expression the highest in Purkinje cells in the cerebellum (at protein level) (PubMed:26089202). Expressed in the myocardium of the heart (PubMed:30878395).

9606:COQ8A
gene id: 9606:COQ8A
uniprot id: Q8NI60
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adopts an atypical protein kinase-like fold: while it adopts a core fold similar to that of well-characterized protein kinase-like domains, a number of features are positioned to inhibit the kinase activity: (1) an atypical AAAS motif in an alanine-rich (A-rich) loop that replaces the canonical glycine-rich (G-rich) nucleotide-binding loop and limits ATP binding by establishing an unusual selectivity for ADP and (2) an N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket (PubMed:25498144). Nucleotide-binding opens the substrate binding pocket and flips the active site from inside the hydrophobic core into a catalytically competent, solvent-exposed posture (PubMed:27499294).
messages: Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25498144, PubMed:21296186, PubMed:25540914, PubMed:27499294). Its substrate specificity is unclear: does not show any protein kinase activity (PubMed:25498144, PubMed:27499294). Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (PubMed:25498144, PubMed:27499294). Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144).
messages: Autoinhibited by the N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket. Nucleotide-binding relieves inhibition (PubMed:27499294).
messages: Belongs to the protein kinase superfamily. ADCK protein kinase family.
messages: By p53/TP53.
messages: Homodimer; homodimerizes via its transmembrane region (PubMed:25216398). Interacts with the multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (PubMed:27499294, PubMed:27499296).
messages: Membrane
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle.

9606:COMMD9
gene id: 9606:COMMD9
uniprot id: Q9P000
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasmic vesicle
messages: Interacts with RELB and NFKB1/p105 (PubMed:15799966). Interacts with CCDC22, CCDC93, SCNN1B, CUL1 (PubMed:21778237, PubMed:23563313, PubMed:23637203, PubMed:25355947, PubMed:28892079).
messages: May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203).
messages: Nucleus
messages: Ubiquitous.

9606:ACTN2
gene id: 9606:ACTN2
uniprot id: P35609
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the alpha-actinin family.
messages: Expressed in both skeletal and cardiac muscle.
messages: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
messages: Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2. Interacts with DST isoform 1 (via N-terminus). Interacts with PARVB. Interacts with SYNPO2.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by FBXL22, leading to proteasomal degradation.
messages: Z line

9606:ERICH6
gene id: 9606:ERICH6
uniprot id: Q7L0X2
names: Similarity
messages: Belongs to the ERICH6 family.

9606:RECQL
gene id: 9606:RECQL
uniprot id: A0A024RAV2
uniprot id: P46063
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the helicase family. RecQ subfamily.
messages: DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction.
messages: High expression in heart, lung, skeletal muscle and kidney, low expression in brain.
messages: Interacts with EXO1 (PubMed:15886194). Interacts with MLH1.
messages: Nucleus

9606:PDE6C
gene id: 9606:PDE6C
uniprot id: P51160
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.
messages: Belongs to the cyclic nucleotide phosphodiesterase family.
messages: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.
messages: Cell membrane
messages: Composed of two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SF3A3
gene id: 9606:SF3A3
uniprot id: B4DW90
uniprot id: Q12874
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SF3A3 family.
messages: Component of splicing factor SF3A which is composed of three subunits; SF3A3/SAP61, SF3A2/SAP62 and SF3A1/SAP114 (PubMed:8022796, PubMed:10882114, PubMed:11533230, PubMed:21349847). SF3A1 functions as scaffold that interacts directly with both SF3A2 and SF3A3 (PubMed:11533230, PubMed:21349847, PubMed:17098193). SF3A associates with the splicing factor SF3B and a 12S RNA unit to form the mature 17S U2 small nuclear ribonucleoprotein complex (17S U2 snRNP) (PubMed:10882114, PubMed:11533230, PubMed:17098193). Identified in the spliceosome 'E' complex, a precursor of the spliceosome 'A' complex (PubMed:10882114). Identified in the spliceosome 'A' and 'B' complexes (PubMed:8022796, PubMed:10882114, PubMed:29360106, PubMed:30315277). Identified in the spliceosome 'C' complex (PubMed:11991638).
messages: Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex (PubMed:8022796, PubMed:10882114, PubMed:11533230). Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes (PubMed:29360106, PubMed:30315277).
messages: Nucleus
messages: Nucleus speckle
messages: Ubiquitous.

9606:GLB1
gene id: 9606:GLB1
uniprot id: B7Z6Q5
uniprot id: P16278
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyl hydrolase 35 family.
messages: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
messages: Detected in placenta (at protein level) (PubMed:8383699). Detected in fibroblasts and testis (PubMed:2511208).
messages: Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers.
messages: Homodimer (PubMed:22128166). May form higher multimers (Probable).
messages: Lysosome
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: perinuclear region

9606:RIT2
gene id: 9606:RIT2
uniprot id: Q99578
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. Ras family.
messages: Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator.
messages: Cell membrane
messages: Interacts with AFDN, the C-terminal domain of RALGDS and RLF, but not with RIN1 and PIK3CA. RLF binds exclusively to the active GTP-bound form (By similarity). Binds calmodulin. Interacts with PLXNB3. Interacts with POU4F1 (via N-terminus); the interaction controls POU4F1 transactivation activity on some neuronal target genes (By similarity).
messages: Neuron-specific.
messages: Nucleus
messages: Shows rapid uncatalyzed guanine nucleotide dissociation rates, which are much faster than those of most Ras subfamily members.

9606:IZUMO1R
gene id: 9606:IZUMO1R
uniprot id: A6ND01
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the folate receptor family.
messages: Cell membrane
messages: Gene prediction based on similarity to orthologs.
messages: Monomer (PubMed:27309808). Interacts with IZUMO1; the interaction is direct. IZUMO1 and IZUMO1R/JUNO form a complex with 1:1 stoichiometry (PubMed:24739963, PubMed:27309818, PubMed:27309808).
messages: Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Does not bind folate.
messages: The protein is rapidly cleaved following fertilization, being only weakly detectable in zona-intact fertilized eggs at telophase II and undetectable at the pronuclear stage. Sheding is probably required to block to polyspermy and ensuring egg fusion with a single sperm.

9606:PPM1D
gene id: 9606:PPM1D
uniprot id: A0A0S2Z4M2
uniprot id: O15297
names: Cofactor
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the PP2C family.
messages: Binds 2 magnesium or manganese ions per subunit.
messages: By p53/TP53.
messages: Disease susceptibility may be associated with variants affecting the gene represented in this entry.
messages: Expressed in fetal and adult brain. Also detected in fetal liver and skeletal muscle, but not in their adult counterparts.
messages: Interacts with CHEK1 and CHEK2; dephosphorylates them. Interacts with MAPK14 (PubMed:21283629).
messages: Involved in the negative regulation of p53 expression (PubMed:23242139). Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol

9606:EVA1B
gene id: 9606:EVA1B
uniprot id: Q9NVM1
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the EVA1 family.
messages: Membrane

9606:SDK2
gene id: 9606:SDK2
uniprot id: Q58EX2
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions.
messages: Belongs to the sidekick family.
messages: Cell membrane
messages: Homodimer; mediates homophilic interactions to promote cell adhesion. Interacts (via PDZ-binding motif) with MAGI1, MAGI2, DLG2, DLG3 and DLG4.
messages: Synapse
messages: the PDZ-binding motif mediates interaction with PDZ domain-containing proteins MAGI1, MAGI2, DLG2, DLG3 and DLG4 and is required for is required for synaptic localization in photoreceptors.

9606:UBXN11
gene id: 9606:UBXN11
uniprot id: Q5T124
names: Function
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with GNA12, GNA13, RND1, RND2 and RND3.
messages: May be involved in the reorganization of actin cytoskeleton mediated by RND1, RND2 and RND3. Promotes RHOA activation mediated by GNA12 and GNA13 (By similarity).
messages: The number of repeats is polymorphic and varies from 1 to 4.
messages: cytoskeleton

9606:FBXO30
gene id: 9606:FBXO30
uniprot id: Q8TB52
names: Function
names: PTM
names: Sequence Caution
names: Subunit
messages: Auto-ubiquitinated.
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: May be neddylated. Neddylation may be required for E3 ligase activity (By similarity).
messages: Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with SKP1, CUL1 and RBX1/ROC1 (By similarity).
messages: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation.

9606:GPR35
gene id: 9606:GPR35
uniprot id: A8K2J1
uniprot id: B2RA17
uniprot id: Q9HC97
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acts as a receptor for kynurenic acid, an intermediate in the tryptophan metabolic pathway. The activity of this receptor is mediated by G-proteins that elicit calcium mobilization and inositol phosphate production through G(qi/o) proteins.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Predominantly expressed in immune and gastrointestinal tissues.

9606:CCSAP
gene id: 9606:CCSAP
uniprot id: Q6IQ19
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with microtubules; the association occurs on polyglutamylated tubulin (PubMed:22493317, PubMed:26562023).
messages: Belongs to the CCSAP family.
messages: Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle (PubMed:26562023). May play a role in embryonic development. May be required for proper cilia beating (By similarity).
messages: axon
messages: centriole
messages: centrosome
messages: cilium
messages: cilium axoneme
messages: cilium basal body
messages: cytoskeleton
messages: spindle

9606:TRH
gene id: 9606:TRH
uniprot id: P20396
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: As a component of the hypothalamic-pituitary-thyroid axis, it controls the secretion of thyroid-stimulating hormone (TSH) and is involved in thyroid hormone synthesis regulation. It also operates as modulator of hair growth. It promotes hair-shaft elongation, prolongs the hair cycle growth phase (anagen) and antagonizes its termination (catagen) by TGFB2. It stimulates proliferation and inhibits apoptosis of hair matrix keratinocytes.
messages: Belongs to the TRH family.
messages: Hypothalamus. Expressed in the hair follicle epithelium (at protein level).
messages: Secreted

9606:CD84
gene id: 9606:CD84
uniprot id: Q9UIB8
names: Developmental Stage
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Expression is slightly increased in naive B-cells after the first dividion. By contrast, expression on memory B-cells decreased with each successive division.
messages: Homodimer; via its extracellular domain. Forms a head to tail dimer with a CD48 molecule from another cell. Interacts with SH2 domain-containing proteins SH2D1A/SAP and SH2D1B/EAT-2. Interacts with tyrosine-protein phosphatases PTPN6/SHP-1 and PTPN11//SHP-2 via its phosphorylated cytoplasmic domain, and this interaction is blocked by SH2D1A. Interacts (via phosphorylated ITSM 1 and 2) with INPP5D/SHIP1.
messages: N-glycosylated.
messages: Phosphorylated by tyrosine-protein kinase LCK on tyrosine residues following ligation induced by agonist monoclonal antibody. The association with SH2D1A is dependent of tyrosine phosphorylation of its cytoplasmic domain. Phosphorylated on Tyr-296 and Tyr-316 following platelet aggregation. Phosphorylated on tyrosine residues upon high affinity immunoglobulin epsilon receptor aggregation in mast cells.
messages: Predominantly expressed in hematopoietic tissues, such as lymph node, spleen and peripheral leukocytes. Expressed in macrophages, B-cells, monocytes, platelets, thymocytes, T-cells and dendritic cells. Highly expressed in memory T-cells. Expressed in mast cells.
messages: Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Can mediate natural killer (NK) cell cytotoxicity dependent on SH2D1A and SH2D1B (By similarity). Increases proliferative responses of activated T-cells and SH2D1A/SAP does not seem be required for this process. Homophilic interactions enhance interferon gamma/IFNG secretion in lymphocytes and induce platelet stimulation via a SH2D1A-dependent pathway. May serve as a marker for hematopoietic progenitor cells (PubMed:11564780, PubMed:12115647. PubMed:12928397, PubMed:12962726, PubMed:16037392) Required for a prolonged T-cell:B-cell contact, optimal T follicular helper function, and germinal center formation. In germinal centers involved in maintaining B-cell tolerance and in preventing autoimmunity (By similarity). In mast cells negatively regulates high affinity immunoglobulin epsilon receptor signaling; independent of SH2D1A and SH2D1B but implicating FES and PTPN6/SHP-1 (PubMed:22068234). In macrophages enhances LPS-induced MAPK phosphorylation and NF-kappaB activation and modulates LPS-induced cytokine secretion; involving ITSM 2 (By similarity). Positively regulates macroautophagy in primary dendritic cells via stabilization of IRF8; inhibits TRIM21-mediated proteasomal degradation of IRF8 (PubMed:29434592).
messages: The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain-containingbinding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. A 'three-pronged' mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3).

9606:LYVE1
gene id: 9606:LYVE1
uniprot id: B2R672
uniprot id: Q9Y5Y7
names: Caution
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Homodimer; disulfide-linked. Interacts with PDGFB and IGFBP3. Forms a transient ternary complex with PDGFB and PDGFRB in TGN (By similarity).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as a hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes (PubMed:10037799). Binds to pericelluar hyaluronan matrices deposited on the surface of leukocytes and facilitates cell adhesion and migration through lymphatic endothelium (PubMed:26823460).
messages: Mainly expressed in endothelial cells lining lymphatic vessels.
messages: O-glycosylated.

9606:DNASE1
gene id: 9606:DNASE1
uniprot id: P24855
names: Cofactor
names: Disease Annotation
names: Function
names: Pharmaceutical
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: At least 6 alleles of DNASE1 are known: DNASE1*1 to DNASE1*6. The sequence shown is that of DNASE1*2.
messages: Available under the name Pulmozyme (Genentech). Used to reduce the viscosity of cystic fibrosis sputum by hydrolyzing the extracellular DNA released by degenerating leukocytes that accumulate in response to infection.
messages: Belongs to the DNase I family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. Neutrophil extracellular traps (NETs) are impaired in patients suffering from SLE (PubMed:20439745). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (PubMed:20439745).
messages: Divalent metal cations. Prefers Ca(2+) or Mg(2+).
messages: Nucleus envelope
messages: Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.
messages: Secreted
messages: Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:2251263, PubMed:11241278, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity). Among other functions, seems to be involved in cell death by apoptosis (PubMed:11241278). Binds specifically to G-actin and blocks actin polymerization (By similarity). Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity).
messages: Zymogen granule

9606:GRPEL2
gene id: 9606:GRPEL2
uniprot id: Q8TAA5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GrpE family.
messages: Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins. Stimulates ATPase activity of mt-HSP70. May also serve to modulate the interconversion of oligomeric (inactive) and monomeric (active) forms of mt-HSP70 (By similarity).
messages: Mitochondrion matrix
messages: Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19.

9606:ARV1
gene id: 9606:ARV1
uniprot id: A0A024R3V6
uniprot id: Q9H2C2
names: Disease Annotation
names: Function
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ARV1 family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Endoplasmic reticulum membrane
messages: Mediator of sterol homeostasis involved in sterol uptake, trafficking and distribution into membranes.
messages: Membrane
messages: Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous. Highly expressed in liver and adipose.
messages: When transfected in S.cerevisiae, it can complement the absence of yeast of ARV1 protein, suggesting a conserved role in sphingolipid metabolism.

9606:TEX10
gene id: 9606:TEX10
uniprot id: A0A024R169
uniprot id: Q9NXF1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the IPI1/TEX10 family.
messages: Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the 5FMC complex, at least composed of PELP1, LAS1L, TEX10, WDR18 and SENP3; the complex interacts with methylated CHTOP and ZNF148. Component of the PELP1 complex, composed of at least PELP1, TEX10 and WDR18. The complex interacts with pre-60S ribosome particles (PubMed:21326211).
messages: Cytoplasm
messages: Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit (PubMed:21326211).
messages: nucleolus
messages: nucleoplasm

9606:HAUS2
gene id: 9606:HAUS2
uniprot id: Q9NVX0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the HAUS2 family.
messages: Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Interacts with EML3 (phosphorylated at 'Thr-881') (PubMed:30723163).
messages: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.
messages: centrosome
messages: spindle

9606:SLC10A1
gene id: 9606:SLC10A1
uniprot id: B2RA41
uniprot id: Q14973
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for hepatitis B virus.
messages: (Microbial infection) Interacts with hepatitis B virus large envelope protein.
messages: As a major transporter of conjugated bile salts from plasma into the hepatocyte, it plays a key role in the enterohepatic circulation of bile salts necessary for the solubilization and absorption of dietary fat and fat-soluble vitamins (PubMed:8132774, PubMed:14660639, PubMed:24867799, PubMed:34060352). It is strictly dependent on the extracellular presence of sodium (PubMed:8132774, PubMed:14660639, PubMed:24867799, PubMed:34060352). It exhibits broad substrate specificity and transports various bile acids, such as taurocholate, cholate, as well as non-bile acid organic compounds, such as estrone sulfate (PubMed:14660639, PubMed:34060352). Works collaboratively with the ileal transporter (NTCP2), the organic solute transporter (OST), and the bile salt export pump (BSEP), to ensure efficacious biological recycling of bile acids during enterohepatic circulation (PubMed:33222321).
messages: Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.
messages: Cell membrane
messages: Expressed in liver (PubMed:11031103, PubMed:12409283). Expressed in placental trophoblasts (PubMed:12409283).
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:P2RX4
gene id: 9606:P2RX4
uniprot id: Q99571
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the P2X receptor family.
messages: Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with P2X7 (via C-terminus); this interaction is functional only in the presence of ATP (PubMed:26456657). Interacts with AP1M2 (By similarity).
messages: Membrane
messages: Receptor for extracellularly released ATP acting as a ligand-gated ion channel that plays multiple role in immunity and central nervous system physiology (PubMed:35165166). Plays a key role in initial steps of T-cell activation and Ca(2+) microdomain formation (By similarity). Participates also in basal T-cell activity without TCR/CD3 stimulation (By similarity). Promotes the differentiation and activation of Th17 cells via expression of retinoic acid-related orphan receptor C/RORC (PubMed:35165166). Upon activation, drives microglia motility via the PI3K/Akt pathway (By similarity).

9606:SLAIN2
gene id: 9606:SLAIN2
uniprot id: A0A024R9T6
uniprot id: Q9P270
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SLAIN motif-containing family.
messages: Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Promotes cytoplasmic microtubule nucleation and elongation. Required for normal structure of the microtubule cytoskeleton during interphase.
messages: Interacts with CLIP1, CLIP2, CKAP5, CLASP1, MAPRE1 and MAPRE3.
messages: Is highly phosphorylated during mitosis, but not during interphase. The highly phosphorylated form does not localize at microtubule plus ends and does not interact with MAPRE1 or CKAP5.
messages: The N-terminus forms a two-stranded coiled coil.
messages: Widely expressed with highest levels in adult liver, testis and ovary, and lowest levels in adult pancreas and spleen and in fetal brain.
messages: cytoskeleton

9606:ITK
gene id: 9606:ITK
uniprot id: Q08881
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
messages: Binds 1 zinc ion per subunit.
messages: Cytoplasm
messages: Homooligomerizes; this association negatively regulates kinase activity (By similarity). Interacts with PPIA/CYPA; this interaction regulates TCR signal strength via a proline-directed conformational switch in ITK. Interacts with THEMIS (By similarity). Interacts with FASLG. Interacts with VAV1; this interaction is important for VAV1 localization and TCR-induced actin polarization. Interacts with TBX21 (By similarity).
messages: Nucleus
messages: Phosphorylated at Tyr-512 in the activation loop of the kinase domain by LCK. Subsequent autophosphorylation at Tyr-180 leads to the kinase activation. The autophosphorylated Tyr-180 lies within the substrate binding sequence of the SH3 domain.
messages: T-cell lines and natural killer cell lines.
messages: The N-terminal PH domain allows ITK to be recruited to the plasma membrane by an activated PI3 kinase. This domain contains also a proline-rich region (PRR). The adjoining domain is a SH3 domain, which binds to PRR (from itself or from other proteins). Next, a SH2 domain is required for binding tyrosine-phosphorylated substrates. In the C-terminal region, the kinase domain is required for tyrosine phosphorylation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Through a myriad of surface receptors including the TCR/CD3 signaling complex, coreceptors, or chemokine receptors.
messages: Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the activation of this lipase and subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. Phosphorylates 2 essential adapter proteins: the linker for activation of T-cells/LAT protein and LCP2. Then, a large number of signaling molecules such as VAV1 are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation (PubMed:12186560, PubMed:12682224, PubMed:21725281). Required for TCR-mediated calcium response in gamma-delta T-cells, may also be involved in the modulation of the transcriptomic signature in the Vgamma2-positive subset of immature gamma-delta T-cells (By similarity). Phosphorylates TBX21 at 'Tyr-530' and mediates its interaction with GATA3 (By similarity).
messages: Ubiquitinated.

9606:PARVA
gene id: 9606:PARVA
uniprot id: Q9NVD7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the parvin family.
messages: Cell membrane
messages: Interacts with TGFB1I1 (By similarity). Interacts with LIMS1 (via LD motifs) (PubMed:11331308). Interacts with ARHGAP31 (PubMed:16860736). Interacts with the actin cytoskeleton (PubMed:11331308). Interacts (via C-terminus) with ILK (PubMed:11331308, PubMed:15284246, PubMed:15817463, PubMed:20005845). Interacts (via C-terminus) with TESK1 (via C-terminus); the interaction inhibits TESK1 kinase activity (PubMed:15817463). Interacts with PXN/PAXILLIN (via LD motif 4) (PubMed:15817463, PubMed:18508764, PubMed:18940607).
messages: Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishment of cell polarity, cell adhesion, cell spreading, and directed cell migration.
messages: Widely expressed, with highest levels in heart, skeletal muscle, kidney and liver.
messages: Z line
messages: cytoskeleton
messages: focal adhesion

9606:ADAM7
gene id: 9606:ADAM7
uniprot id: A0A384MTL6
uniprot id: Q9H2U9
names: Caution
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Has been found to be frequently mutated in melanoma. ADAM7 mutations may play a role in melanoma progression and metastasis.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein (By similarity).
messages: Membrane
messages: Not detected in healthy melanocytes. Expressed in melanoma cells.

9606:ESCO1
gene id: 9606:ESCO1
uniprot id: A0A024RC19
uniprot id: Q5FWF5
names: Caution
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15958495, PubMed:18614053). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3 (PubMed:18614053).
messages: Belongs to the acetyltransferase family. ECO subfamily.
messages: Chromosome
messages: It is uncertain whether Met-1 or Met-2 is the initiator.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus
messages: Phosphorylated during mitosis, when associated with chromosomes.
messages: The N-terminal region seems to be responsible for association with chromosomes, thus excluding any involvement of the Zn finger in this process.
messages: The subunit structure is controversial. Monomer (PubMed:27803161). Homodimer (PubMed:27112597).
messages: Widely expressed. Expressed in heart, brain, liver, placenta, lung, kidney and pancreas. Highly expressed in muscle.
messages: Wrong choice of frame.

9606:CKAP5
gene id: 9606:CKAP5
uniprot id: Q14008
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TOG/XMAP215 family.
messages: Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Acts as processive microtubule polymerase. Promotes cytoplasmic microtubule nucleation and elongation. Plays a major role in organizing spindle poles. In spindle formation protects kinetochore microtubules from depolymerization by KIF2C and has an essential role in centrosomal microtubule assembly independently of KIF2C activity. Contributes to centrosome integrity. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Enhances the strength of NDC80 complex-mediated kinetochore-tip microtubule attachments (PubMed:27156448).
messages: Contaminating sequence. Potential poly-A sequence.
messages: Interacts with TACC1 (PubMed:11903063). Interacts with SLAIN2 and SLAIN1 (PubMed:21646404). Interacts with HNRNPA2B1 (PubMed:15703215). Interacts with TACC3 independently of clathrin (PubMed:25596274). Interacts with TACC3 and clathrin forming the TACC3/ch-TOG/clathrin complex located at spindle inter-microtubules bridges (PubMed:21297582, PubMed:23532825). Interacts with NDC80; indicative for an association with the NDC80 complex (PubMed:27156448).
messages: Overexpressed in hepatomas and colonic tumors. Also expressed in skeletal muscle, brain, heart, placenta, lung, liver, kidney and pancreas. Expression is elevated in the brain; highly expressed in the Purkinje cell bodies of the cerebellum.
messages: The TOG (tumor overexpressed gene) domains are arranged in a N-terminal pentameric array with each domain composed of six (for the most part non-canonical) HEAT repeats forming a oblong paddle-like structure. Intra-HEAT loops are positioned along a face of the TOG domain and bind to a single alpha/beta-tubulin heterodimer. The TOG domains in the array seem to be structurally and functionally polarized. Differential functions may range from microtubule (MT) lattice binding and/or free tubulin heterodimer binding to potentiating stable incorporation of tubulin into the MT lattice.
messages: centrosome
messages: kinetochore
messages: spindle
messages: spindle pole

9606:APBA2
gene id: 9606:APBA2
uniprot id: Q99767
names: Domain
names: Function
names: Subunit
names: Tissue Specificity
messages: Brain.
messages: Composed of an N-terminal domain that binds STXBP1, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the amyloid-beta precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
messages: Part of a multimeric complex containing STXBP1 and syntaxin-1. Binds to the cytoplasmic domain of amyloid-beta protein, and to the nuclear factor NF-kappa-B/p65 via its PDZ domain. Interacts with the N-terminal domain of NECAB3.
messages: Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta.

9606:EHF
gene id: 9606:EHF
uniprot id: Q9NZC4
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ETS family.
messages: By IL1B/interleukin-1 beta and TNF in bronchial smooth muscle cells and fibroblasts. By IL10/interleukin-10 and IFNG/IFN-gamma in monocyte-derived dendritic cells.
messages: Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, prostate, and lung. Weakly expressed in kidney and colon. Not detected in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, testis, ovary, small intestine or peripheral blood leukocytes.
messages: Nucleus
messages: The PNT domain acts as a transcriptional activator.
messages: Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene.

9606:EPHA6
gene id: 9606:EPHA6
uniprot id: A0A0B4J1T8
uniprot id: Q9UF33
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
messages: Expressed in brain and testis.
messages: Heterotetramer upon binding of the ligand. The heterotetramer is composed of an ephrin dimer and a receptor dimer. Oligomerization is probably required to induce biological responses (By similarity). Interacts (via SAM domain) with ANKS1A (via SAM domain) (By similarity).
messages: Membrane
messages: Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity).

9606:MED21
gene id: 9606:MED21
uniprot id: A0A024RAW0
uniprot id: Q13503
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Mediator complex subunit 21 family.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
messages: Component of the Mediator complex.
messages: Interacts with PPARG (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with THRA in a ligand-dependent fashion.
messages: Nucleus

9606:AHSP
gene id: 9606:AHSP
uniprot id: Q9NZD4
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia.
messages: Belongs to the AHSP family.
messages: By GATA1 during erythroid maturation.
messages: Cytoplasm
messages: Expressed in blood and bone marrow.
messages: Monomer. Forms a heterodimer with free alpha-hemoglobin. Does not bind beta-hemoglobin nor alpha(2)beta(2) hemoglobin A.

9606:INO80E
gene id: 9606:INO80E
uniprot id: Q8NBZ0
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the N-terminus of INO80.
messages: Nucleus
messages: Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.

9606:RNF7
gene id: 9606:RNF7
uniprot id: Q9UBF6
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RING-box family.
messages: By 1,10-phenanthroline.
messages: Cytoplasm
messages: Expressed in heart, liver, skeletal muscle and pancreas. At very low levels expressed in brain, placenta and lung.
messages: Inactive.
messages: Nucleus
messages: Phosphorylation by CK2 is required for efficient degradation of NFKBIA and CDKN1B.
messages: Probable component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription (PubMed:10851089). CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (By similarity). Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme to the complex and brings it into close proximity to the substrate. Promotes the neddylation of CUL5 via its interaction with UBE2F. May play a role in protecting cells from apoptosis induced by redox agents.
messages: Probable part of SCF complexes, which consist of SKP1, CUL1, RNF7/RBX2 and a F-box protein. Interacts (preferentially) with CUL5. Also interacts (with lower preference) with CUL1, CUL2, CUL3, CUL4A and CUL4B. Interacts with UBE2F. Interacts with CSNK2B, the interaction is not affected by phosphorylation by CK2. May also interact with DCUN1D1, DCUN1D2, DCUN1D3, DCUN1D4 and DCUN1D5 (PubMed:26906416).
messages: The RING-type zinc finger domain is essential for ubiquitin ligase activity. It coordinates an additional third zinc ion.

9606:ELAC1
gene id: 9606:ELAC1
uniprot id: Q9H777
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RNase Z family.
messages: Binds 2 Zn(2+) ions.
messages: Homodimer.
messages: Nucleus
messages: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
messages: Zinc phosphodiesterase, which displays some tRNA 3'-processing endonuclease activity. Probably involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA.
messages: cytosol

9606:TRAPPC13
gene id: 9606:TRAPPC13
uniprot id: A5PLN9
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subunit
messages: Belongs to the TRAPPC13 family.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Part of the multisubunit TRAPP (transport protein particle) complex.
messages: Wrong choice of CDS.

9606:STEAP1
gene id: 9606:STEAP1
uniprot id: Q9UHE8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the STEAP family.
messages: Endosome membrane
messages: Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor.
messages: Ubiquitously expressed. Highly expressed in prostate tumors.

9606:KIAA0319
gene id: 9606:KIAA0319
uniprot id: Q5VV43
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Early endosome membrane
messages: Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain.
messages: Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis.
messages: Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.
messages: N-glycosylated.
messages: O-glycosylated.
messages: Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.

9606:UBE2K
gene id: 9606:UBE2K
uniprot id: P61086
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam cell formation by the suppression of apoptosis of lipid-bearing macrophages through ubiquitination and subsequence degradation of p53/TP53. Proposed to be involved in ubiquitination and proteolytic processing of NF-kappa-B; in vitro supports ubiquitination of NFKB1. In case of infection by cytomegaloviruses may be involved in the US11-dependent degradation of MHC class I heavy chains following their export from the ER to the cytosol. In case of viral infections may be involved in the HPV E7 protein-dependent degradation of RB1.
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: By aggregated low-density lipoprotein.
messages: Cytoplasm
messages: Expressed in all tissues tested, including spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocytes, T-lymphocytes, monocytes, granulocytes and bone marrow mononuclear cells. Highly expressed in brain, with highest levels found in cortex and striatum and at lower levels in cerebellum and brainstem.
messages: Interacts with RNF138/NARF. Interacts with BRCA1.
messages: May be inactive.
messages: Sumoylation at Lys-14 impairs catalytic activity.

9606:PHF2
gene id: 9606:PHF2
uniprot id: O75151
names: Activity Regulation
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the JHDM1 histone demethylase family. JHDM1D subfamily.
messages: Component of the PHF2-ARID5B complex, at least composed of PHF2 and ARID5B (PubMed:21532585). Interacts with HNF4A and NR1H4 (PubMed:21532585). Interacts with RELA (By similarity).
messages: Enzymatically inactive by itself, and become active following phosphorylation by PKA.
messages: In contrast to the related histone demethylases JHDM1D and PHF8, the conserved active His in position 321 is replaced by a Tyr. However, the presence of a Tyr residue neither affects binding to the catalytic iron nor abolishes demethylase activity (PubMed:21167174).
messages: Lysine demethylase that demethylates both histones and non-histone proteins (PubMed:20129925, PubMed:21167174, PubMed:21532585). Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B and mediates demethylation of methylated ARID5B (PubMed:21532585). Demethylation of ARID5B leads to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes (PubMed:21532585). The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. PHF2 is recruited to trimethylated 'Lys-4' of histone H3 (H3K4me3) at rDNA promoters and promotes expression of rDNA (PubMed:21532585). Involved in the activation of toll-like receptor 4 (TLR4)-target inflammatory genes in macrophages by catalyzing the demethylation of trimethylated histone H4 lysine 20 (H4K20me3) at the gene promoters (By similarity).
messages: Phosphorylated by PKA on specific serine residues, leading to the formation of an active lysine demethylase complex.
messages: The PHD-type zinc finger mediates the binding to H3K4me2 and H3K4me3.
messages: Widely expressed, including in liver (at protein level).
messages: kinetochore
messages: nucleolus

9606:FAM120B
gene id: 9606:FAM120B
uniprot id: A0A0D9SEJ5
uniprot id: B4DG54
uniprot id: B4DSS4
uniprot id: F5GY05
uniprot id: Q96EK7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the constitutive coactivator of PPAR-gamma family.
messages: Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity).
messages: Interacts with ESR1 and RXRA. Interacts with PPARG; in a ligand-independent manner (By similarity).
messages: Nucleus
messages: Widely expressed.

9606:FAM110C
gene id: 9606:FAM110C
uniprot id: Q1W6H9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the FAM110 family.
messages: Detected in stomach, thyroid, trachea, adrenal gland and testis, and at low levels in prostate, ovary, intestine, colon, spinal cord and lymph node.
messages: Interacts with AKT1; the interaction is transient and follows AKT1 activation. Interacts with PPP2CA and alpha-tubulin.
messages: May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway.
messages: Nucleus
messages: centrosome
messages: cytoskeleton
messages: spindle pole

9606:MN1
gene id: 9606:MN1
uniprot id: Q10571
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving MN1 may be a cause of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with ETV6.
messages: Defects in MN1 involved in the development of meningiomas, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man.
messages: Interacts with PBX1, PKNOX1, ZBTB24, E2F7, RING1.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable).
messages: Widely expressed in fetal and adult tissues. Highest expression is observed in fetal brain and skeletal muscle, and adult skeletal muscle.

9606:HGSNAT
gene id: 9606:HGSNAT
uniprot id: Q68CP4
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A signal sequence is predicted but has been shown not to be cleaved in the reticulum endoplasmic.
messages: Glycosylated.
messages: Homooligomer. Homooligomerization is necessary for enzyme activity.
messages: Intralysosomal proteolytic cleavage is faster and enzymatic activity higher than isoform 2.
messages: Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.
messages: Lysosome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme.
messages: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.

9606:GJB7
gene id: 9606:GJB7
uniprot id: Q6PEY0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A connexon is composed of a hexamer of connexins.
messages: Belongs to the connexin family. Beta-type (group I) subfamily.
messages: Cell membrane
messages: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
messages: Weakly expressed in placenta.
messages: gap junction

9606:RADIL
gene id: 9606:RADIL
uniprot id: Q96JH8
names: Function
names: Similarity
names: Subunit
messages: Belongs to the RADIL family.
messages: Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development.
messages: Interacts with RAP1A; in a GTP-dependent manner. Does not interact with members of the Ras family (PubMed:17704304). Interacts (via PDZ domain) with KIF14; is recruited to the microtubule network restricting its interaction with activated RAP1A (PubMed:23209302).

9606:MANSC1
gene id: 9606:MANSC1
uniprot id: Q9H8J5
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Membrane
messages: Widely expressed.

9606:TACC3
gene id: 9606:TACC3
uniprot id: Q9Y6A5
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TACC family.
messages: Cytoplasm
messages: Interacts with microtubules. Interacts with CKAP5 independently of clathrin. Interacts with CKAP5 and clathrin forming the TACC3/ch-TOG/clathrin complex located at spindle inter-microtubules bridges; TACC3 (phosphorylated at Ser-558 by AURKA) and CLTC are proposed to form a composite microtubule interaction surface (PubMed:21297582, PubMed:23918938, PubMed:25596274). Interacts with CCDC100/CEP120. The coiled coil C-terminal region interacts with AH receptor nuclear translocator protein (ARNT) and ARNT2 (By similarity). Interacts with GCN5L2 and PCAF (PubMed:14767476).
messages: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:21297582, PubMed:23532825). May be involved in the control of cell growth and differentiation. May contribute to cancer (PubMed:14767476).
messages: Up-regulated in various cancer cell lines.
messages: centrosome
messages: spindle
messages: spindle pole

9606:PLOD1
gene id: 9606:PLOD1
uniprot id: Q02809
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Homodimer (By similarity). Identified in a complex with P3H3 and P3H4 (By similarity).
messages: Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:8621606, PubMed:10686424, PubMed:15854030). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable).
messages: Rough endoplasmic reticulum membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NLRP9
gene id: 9606:NLRP9
uniprot id: Q7RTR0
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. NLRP9 inflammasome activation may be initiated by DHX9 interaction with viral double-stranded RNA (dsRNA), preferentially to short dsRNA segments.
messages: Belongs to the NLRP family.
messages: Cytoplasm
messages: Expressed in ileum intestinal epithelial cells. Not detected in peripheral blood mononuclear cells (PubMed:28636595). Expressed in cerebral endothelial cells and, at much lower levels, in brain pericytes (PubMed:28432035).
messages: In brain pericytes, up-regulated at the mRNA level in response to oxidative stress.
messages: Inflammasome
messages: Sensor component of NLRP9 inflammasomes. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens, such as rotavirus, and play critical roles in innate immunity and inflammation. The core of NLRP9 inflammasomes consists of a signal sensor component (NLRP9), an adapter (ASC/PYCARD), which recruits an effector pro-inflammatory caspase (CASP1). Within the complex, NLRP9 and PYCARD interact via their respective DAPIN/pyrin domains. This interaction initiates speck formation (nucleation) which greatly enhances further addition of soluble PYCARD molecules to the speck in a prion-like polymerization process. Clustered PYCARD nucleates the formation of CASP1 filaments through the interaction of their respective CARD domains, acting as a platform for CASP1 polymerization. CASP1 filament formation increases local enzyme concentration, resulting in trans-autocleavage and activation. Active CASP1 then processes IL1B and IL18 precursors, leading to the release of mature cytokines in the extracellular milieu and inflammatory response (PubMed:28636595). Interacts with DHX9 upon rotavirus infection; this interaction may trigger inflammasome activation and inflammatory response (PubMed:28636595).

9606:NXPH1
gene id: 9606:NXPH1
uniprot id: P58417
uniprot id: Q3LID8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the neurexophilin family.
messages: May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.
messages: May be signaling molecules that resemble neuropeptides.
messages: Secreted

9606:CRPPA
gene id: 9606:CRPPA
uniprot id: A0A140VJM1
uniprot id: A4D126
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the IspD/TarI cytidylyltransferase family. IspD subfamily.
messages: Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:27130732, PubMed:26687144, PubMed:26923585). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).
messages: Homodimer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed, with high expression in brain.
messages: cytosol

9606:GTF2H2C
gene id: 9606:GTF2H2C
uniprot id: Q6P1K8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the GTF2H2 family.
messages: Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.
messages: Nucleus

9606:AQP8
gene id: 9606:AQP8
uniprot id: O94778
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
messages: Belongs to the MIP/aquaporin (TC 1.A.8) family.
messages: Detected in the sperm midpiece (at protein level) (PubMed:28042826). Expressed only in pancreas and colon.
messages: Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea.
messages: Mitochondrion membrane

9606:MAP2K7
gene id: 9606:MAP2K7
uniprot id: O14733
names: Activity Regulation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by phosphorylation by specific MAP kinase kinase kinases such as MAP3K1/MEKK1, MAP3K3/MEKK3, MAP3K11/MLK3 and MAP3K12/DLK.
messages: Activated by phosphorylation on Ser-271 and Thr-275 by MAP kinase kinase kinases (MAP3Ks).
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily.
messages: Cytoplasm
messages: Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4/MKK4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The monophosphorylation of JNKs on the Thr residue is sufficient to increase JNK activity indicating that MAP2K7/MKK7 is important to trigger JNK activity, while the additional phosphorylation of the Tyr residue by MAP2K4/MKK4 ensures optimal JNK activation. Has a specific role in JNK signal transduction pathway activated by pro-inflammatory cytokines. The MKK/JNK signaling pathway is also involved in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Part of a non-canonical MAPK signaling pathway, composed of the upstream MAP3K12 kinase and downstream MAP kinases MAPK1/ERK2 and MAPK3/ERK1, that enhances the AP-1-mediated transcription of APP in response to APOE (PubMed:28111074).
messages: Interacts with isoform 1 of VRK2. Interacts (via its D domain) with its substrates MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3 (By similarity). Interacts (via its DVD domain) with MAP3Ks activators like MAP3K5/ASK1 and MAP3K1/MEKK1 (By similarity). Interacts with MAPK8IP1/JIP1, MAPK8IP2/JIP2 and MAPK8IP3/JIP3 scaffold proteins. Interacts with RASSF7, the interaction promotes phosphorylation. Found in a complex with SH3RF1, RAC1, MAP3K11/MLK3, MAPK8IP1/JIP1 and MAPK8/JNK1. Found in a complex with SH3RF1, RAC2, MAP3K7/TAK1, MAPK8IP1/JIP1, MAPK8/JNK1 and MAPK9/JNK2 (By similarity).
messages: May be due to intron retention.
messages: Nucleus
messages: The D domain (residues 37-57) contains a conserved docking site and is required for the binding to MAPK substrates.
messages: The DVD domain (residues 377-400) contains a conserved docking site and is found in the mammalian MAP kinase kinases (MAP2Ks). The DVD sites bind to their specific upstream MAP kinase kinase kinases (MAP3Ks) and are essential for activation.
messages: Ubiquitous; with highest level of expression in skeletal muscle. Isoform 3 is found at low levels in placenta, fetal liver, and skeletal muscle.

9606:RHBDF2
gene id: 9606:RHBDF2
uniprot id: Q6PJF5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase S54 family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Found in the epidermis and esophageal epithelium.
messages: Interacts with EGF (By similarity). Interacts (via cytoplasmic N-terminus) with FRMD8/iTAP; this interaction leads to mutual protein stabilization (PubMed:29897333, PubMed:29897336). Interacts with ADAM17/TACE (PubMed:29897333, PubMed:29897336).
messages: Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:IGFL2
gene id: 9606:IGFL2
uniprot id: Q6UWQ7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the IGFL family.
messages: Detected in cerebellum, heart, placenta, spleen, stomach, testis and thymus.
messages: Potential ligand of the IGFLR1 cell membrane receptor.
messages: Secreted

9606:IFT88
gene id: 9606:IFT88
uniprot id: Q13099
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88 (By similarity). Interacts with IFT20, IFT22, HSPB11, IFT27, IFT52, TRAF3IP1, IFT74, IFT80 and IFT81 (By similarity). Interacts with IFT172 (By similarity). Interacts with IFT57 (By similarity). Interacts with IFT46 (By similarity). Interacts with TTC30B (By similarity). Interacts with C2CD3 (By similarity). Interacts with ENTR1 (via N-terminus) (PubMed:27767179). Interacts with LRRC56 (PubMed:30388400). Interacts with DZIP1 (By similarity).
messages: Cytoplasm
messages: Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas.
messages: Positively regulates primary cilium biogenesis (PubMed:17604723). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment.
messages: centriole
messages: centrosome
messages: cilium
messages: cilium basal body
messages: flagellum

9606:XPNPEP1
gene id: 9606:XPNPEP1
uniprot id: Q5T6H7
uniprot id: Q9NQW7
names: Activity Regulation
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase M24B family.
messages: Binds 2 manganese ions per subunit.
messages: Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro.
messages: Cytoplasm
messages: Expressed in all tissues tested, including pancreas, heart, muscle, kidney, liver, lung and brain. Highest levels in pancreas.
messages: Homodimer.
messages: Inhibited by apstatin and the metal ion chelators EDTA and 1,10-phenanthroline. Partially inhibited by dithiothreitol. Not inhibited by enalaprilat or amastatin.

9606:GABRP
gene id: 9606:GABRP
uniprot id: B4DTP4
uniprot id: E7EWG0
uniprot id: O00591
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family.
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRP sub-subfamily.
messages: Cell membrane
messages: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.
messages: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth class of subunit: Rho form homomeric GABA receptors that do not appear to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also bind this complex.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Most abundant in the uterus, also expressed in lung, thymus and prostate.
messages: Postsynaptic cell membrane

9606:MLF2
gene id: 9606:MLF2
uniprot id: A8K1F4
uniprot id: Q15773
uniprot id: Q5U0N1
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the MLF family.
messages: Cytoplasm
messages: Nucleus
messages: Ubiquitously expressed.

9606:FABP5
gene id: 9606:FABP5
uniprot id: E7DVW5
uniprot id: Q01469
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
messages: Cytoplasm
messages: Forms a beta-barrel structure that accommodates the hydrophobic ligand in its interior.
messages: Intracellular carrier for long-chain fatty acids and related active lipids, such as endocannabinoids, that regulate the metabolism and actions of the ligands they bind. In addition to the cytosolic transport, selectively delivers specific fatty acids from the cytosol to the nucleus, wherein they activate nuclear receptors (PubMed:22170058, PubMed:21395585). Delivers retinoic acid to the nuclear receptor peroxisome proliferator-activated receptor delta; which promotes proliferation and survival. May also serve as a synaptic carrier of endocannabinoid at central synapses and thus controls retrograde endocannabinoid signaling. Modulates inflammation by regulating PTGES induction via NF-kappa-B activation, and prostaglandin E2 (PGE2) biosynthesis during inflammation (By similarity). May be involved in keratinocyte differentiation (PubMed:8092987).
messages: Keratinocytes; highly expressed in psoriatic skin (PubMed:8092987). Expressed in brain gray matter (PubMed:21395585).
messages: Monomer. Homodimer.
messages: Nucleus
messages: Postsynaptic density
messages: Secreted
messages: Synapse
messages: While mouse FABP5 is found only in the monomeric form, human FABP5 can exist as a monomer as well as a domain-swapped dimer.

9606:CTTNBP2NL
gene id: 9606:CTTNBP2NL
uniprot id: Q9P2B4
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with CTTN/cortactin; this interaction may redistribute CTTN to stress fibers (By similarity). May form homomers. May interact with MOB4, PPP2R1A, PPP2CB, STK24, STK25, STK26, STRN4, STRIP1 and STRIP2.
messages: Regulates lamellipodial actin dynamics in a CTTN-dependent manner.
messages: lamellipodium
messages: stress fiber

9606:HCRTR2
gene id: 9606:HCRTR2
uniprot id: O43614
uniprot id: S4X0W3
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Nonselective, high-affinity receptor for both orexin-A and orexin-B neuropeptides (PubMed:9491897, PubMed:26950369). Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding (PubMed:9491897, PubMed:26950369).
messages: The N-terminal region is required for orexin signaling.

9606:HMX2
gene id: 9606:HMX2
uniprot id: A2RU54
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the HMX homeobox family.
messages: Nucleus
messages: Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.

9606:CTNND2
gene id: 9606:CTNND2
uniprot id: B4DJU1
uniprot id: B4DRK2
uniprot id: E7EPC8
uniprot id: Q9UQB3
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the beta-catenin family.
messages: Binds to E-cadherin at a juxtamembrane site within the cytoplasmic domain (By similarity). Interacts with PDZD2 (By similarity). Interacts with ZBTB33 (By similarity). Binds to PSEN1 (PubMed:10037471) (PubMed:10208590) (PubMed:9223106). Interacts with ARHGEF28 (PubMed:17993462). Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain) (PubMed:19706687). Interacts with CDK5 (By similarity). Interacts with CTNNB1 (PubMed:25807484). Interacts with GSK3A and GSK3B (PubMed:19706605). Interacts with DNM2 (PubMed:22022388). Interacts with CCDC85B (PubMed:25009281).
messages: Defects in CTNND2, including deleterious missense and copy number variants (CNVs) are involved in autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.
messages: Expressed in brain; highest expression is observed in fetal brain (PubMed:25807484).
messages: Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.
messages: Nucleus
messages: O-glycosylated.
messages: Perikaryon
messages: Phosphorylated by CDK5 (By similarity). Phosphorylated by GSK3B (PubMed:19706605).
messages: adherens junction
messages: dendrite

9606:ACOT4
gene id: 9606:ACOT4
uniprot id: Q8N9L9
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the C/M/P thioester hydrolase family.
messages: Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:16940157). Functions as a peroxisomal succinyl-coenzyme A thioesterase that can also hydrolyze glutaryl-CoA and long chain saturated acyl-CoAs (PubMed:16940157).
messages: Compared to mouse peroxisomal succinyl-coenzyme A thioesterase/ACOT4, the human enzyme has a broad substrate specificity overlapping the activity of three mouse acyl-coenzyme A thioesterases, providing an explanation for the unexpectedly low number of acyl-coenzyme A thioesterase genes in the human genome.
messages: Peroxisome
messages: Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle.

9606:ATG5
gene id: 9606:ATG5
uniprot id: A9UGY9
uniprot id: Q9H1Y0
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts transiently interacts with hepatitis C virus (HCV) protein NS5B during HCV infection.
messages: (Microbial infection) Interacts with S.flexneri IcsA; bacterial IcsB inhibits this interaction.
messages: (Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).
messages: Acetylated by EP300.
messages: Belongs to the ATG5 family.
messages: By apoptotic stimuli.
messages: Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane.
messages: Conjugated with ATG12.
messages: Cytoplasm
messages: Forms a conjugate with ATG12 (PubMed:12207896, PubMed:11825910, PubMed:17709747, PubMed:26812546). The ATG5-ATG12 conjugate forms a complex with several units of ATG16L1. Forms an 800-kDa complex composed of ATG12-ATG5 and ATG16L2 (By similarity). Interacts with TECPR1; the interaction is direct and does not take place when ATG16L1 is associated with the ATG5-ATG12 conjugate (PubMed:21575909, PubMed:22342342). Interacts with DHX58/RIG-1, IFIH1/MDA5 and MAVS/IPS-1 in monomeric form as well as in ATG12-ATG5 conjugate form. The interaction with MAVS is further enhanced upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Interacts with ATG3 (PubMed:12207896, PubMed:11825910). Interacts with ATG7 and ATG10 (By similarity). Interacts with FADD (PubMed:15778222). Interacts with Bassoon/BSN; this interaction is important for the regulation of presynaptic autophagy (By similarity). Interacts with ATG16L2 (By similarity).
messages: Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
messages: May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
messages: Preautophagosomal structure membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous. The mRNA is present at similar levels in viable and apoptotic cells, whereas the protein is dramatically highly expressed in apoptotic cells.

9606:SAA2-SAA4
gene id: 9606:SAA2-SAA4
uniprot id: A0A096LPE2
names: Similarity
messages: Belongs to the SAA family.

9606:SLC7A6OS
gene id: 9606:SLC7A6OS
uniprot id: Q96CW6
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the IWR1/SLC7A6OS family.
messages: Cytoplasm
messages: Directs RNA polymerase II nuclear import.
messages: Nucleus
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: When transfected to S.cerevisiae cells, able to partially restore polymerase II mislocalization and cellular shape in IWR1 mutant cells.

9606:SNX11
gene id: 9606:SNX11
uniprot id: Q9Y5W9
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the sorting nexin family.
messages: Endosome
messages: Membrane
messages: Monomer.
messages: Phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes.
messages: The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.

9606:ZNF609
gene id: 9606:ZNF609
uniprot id: O15014
names: Function
names: Induction
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts (via N-terminus) with NIPBL. Interacts with the multiprotein complex Integrator.
messages: Involved in the regulation of myoblast proliferation during myogenesis.
messages: Isoform 1: Expressed in myoblasts and myotubes. Isoform 2: Expressed in myoblasts and myotubes, with a preference in undifferentiated myoblasts.
messages: Isoform 1: Up-regulated during neuronal differentiation in retinoic acid-treated SH-SY5Y cells (PubMed:25921068). Isoform 2: Down-regulated during myogenesis (PubMed:28344082).
messages: Nucleus
messages: Produced by a back-splicing reaction which joins the 5'-splice site of the first coding exon with the 3'-splice site of the upstream intron resulting in a circular RNA, called circ-ZNF609. The translation starts with the same initiator methionine as that of the linear transcript encoding isoform 1. The stop codon is created upon circularization.
messages: Transcription factor, which activates RAG1, and possibly RAG2, transcription. Through the regulation of RAG1/2 expression, may regulate thymocyte maturation. Along with NIPBL and the multiprotein complex Integrator, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others.

9606:KRT31
gene id: 9606:KRT31
uniprot id: Q15323
names: Miscellaneous
names: Similarity
names: Tissue Specificity
messages: Belongs to the intermediate filament family.
messages: Present in scalp but not in hairless skin. Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla.
messages: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

9606:MAK16
gene id: 9606:MAK16
uniprot id: Q9BXY0
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the MAK16 family.
messages: nucleolus

9606:DDB1
gene id: 9606:DDB1
uniprot id: Q16531
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with Simian virus 5 protein V.
messages: (Microbial infection) Interacts with hepatitis B virus protein HBX; the viral protein contains a short helical motif that competes for the same binding site as the N-terminal helical motif found in endogenous DCAF proteins.
messages: (Microbial infection) Interacts with human cytomegalovirus protein UL145; this interaction promotes STAT2 degradation.
messages: Acetylated, promoting interaction with CUL4 (CUL4A or CUL4B) and subsequent formation of DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes (PubMed:28886238). Deacetylation by SIRT7 impairs the interaction with CUL4 (CUL4A or CUL4B) and formation of DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes (PubMed:28886238).
messages: Belongs to the DDB1 family.
messages: Component of the UV-DDB complex which includes DDB1 and DDB2; the heterodimer dimerizes to give rise to a heterotetramer when bound to damaged DNA (PubMed:9632823, PubMed:16223728, PubMed:16527807, PubMed:19109893, PubMed:22822215). The UV-DDB complex interacts with monoubiquitinated histone H2A and binds to XPC via the DDB2 subunit (PubMed:16473935). Component of numerous DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which consist of a core of DDB1, CUL4A or CUL4B and RBX1 (PubMed:11673459, PubMed:12732143, PubMed:15882621, PubMed:16678110, PubMed:18593899, PubMed:28886238, PubMed:28437394, PubMed:28302793, PubMed:31693891, PubMed:31686031, PubMed:31819272, PubMed:31693911). DDB1 may recruit specific substrate targeting subunits to the DCX complex (PubMed:11673459, PubMed:12732143, PubMed:15882621, PubMed:18593899, PubMed:28886238). These substrate targeting subunits are generally known as DCAF (DDB1- and CUL4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins (PubMed:17079684, PubMed:16949367, PubMed:18606781, PubMed:19608861, PubMed:16964240, PubMed:19966799). Interacts with AMBRA1, ATG16L1, BTRC, CRBN, DCAF1, DCAF4, DCAF5, DCAF6, DCAF7, DCAF8, DCAF9, DCAF10, DCAF11, DCAF12, DCAF15, DCAF16, DCAF17, DDA1, DET1, DTL, ERCC8, FBXW5, FBXW8, GRWD1, KATNB1, NLE1, NUP43, PAFAH1B1, PHIP, PWP1, RBBP4, RBBP5, RBBP7, COP1, SNRNP40, DCAF1, WDR5, WDR5B, WDR12, WDR26, WDR39, WDR42, WDR53, WDR59, WDR61, WSB1, WSB2, LRWD1 and WDTC1 (PubMed:14739464, PubMed:17079684, PubMed:16949367, PubMed:17041588, PubMed:18606781, PubMed:22935713, PubMed:23478445, PubMed:22118460, PubMed:25043012, PubMed:25108355). DCX complexes may associate with the COP9 signalosome, and this inhibits the E3 ubiquitin-protein ligase activity of the complex (PubMed:15448697, PubMed:16260596). Interacts with NF2, TSC1 and TSC2 (PubMed:18332868, PubMed:18381890). Interacts with AGO1 and AGO2 (PubMed:17932509). Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1…
messages: Cytoplasm
messages: Nucleus
messages: Phosphorylated by ABL1.
messages: Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:15448697, PubMed:14739464, PubMed:16260596, PubMed:16482215, PubMed:17079684, PubMed:16407242, PubMed:16407252, PubMed:16940174). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). Also functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:25043012, PubMed:25108355, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460, PubMed:28886238). The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1 (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:25043012, PubMed:25108355, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460). DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16678110, PubMed:17041588, PubMed:16473935, PubMed:18593899). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:17041588, PubMed:16473935, PubMed:18593899). DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-bi…
messages: The core of the protein consists of three WD40 beta-propeller domains.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by CUL4A. Subsequently degraded by ubiquitin-dependent proteolysis.

9606:MTMR4
gene id: 9606:MTMR4
uniprot id: Q9NYA4
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
messages: Cytoplasm
messages: Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3).
messages: Expressed in brain, heart, kidney, spleen, liver, colon, testis, muscle, placenta, thyroid gland, pancreas, ovary, prostate, skin, peripheral blood, and bone marrow.
messages: Expressed in fetal brain and fetal liver.
messages: Membrane

9606:CBLN2
gene id: 9606:CBLN2
uniprot id: Q8IUK8
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a synaptic organizer in specific subsets of neurons in the brain (By similarity). Essential for long-term maintenance but not establishment of excitatory synapses (By similarity).
messages: Homohexamer; disulfide-linked homotrimers. The trimers are assembled via the globular C1q domains. The trimers associate via N-terminal cysteine residues to form disulfide-linked hexamers. May form homooligomers or heterooligomers with CBLN1 and CBLN3 prior to secretion. Once secreted, does not interact with other CBLN family members. Interacts with GRID2, and more weakly with GRID1. Interacts with NRXN1 and NRXN2 long and short isoforms produced by alternative promoter usage. Weakly interacts with NRXN3 short isoform and not at all with NRXN3 long isoform (By similarity).
messages: Secreted

9606:USP33
gene id: 9606:USP33
uniprot id: Q8TEY7
names: Developmental Stage
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C19 family. USP20/USP33 subfamily.
messages: Deubiquitinating enzyme involved in various processes such as centrosome duplication, cellular migration and beta-2 adrenergic receptor/ADRB2 recycling. Involved in regulation of centrosome duplication by mediating deubiquitination of CCP110 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate. Involved in cell migration via its interaction with intracellular domain of ROBO1, leading to regulate the Slit signaling. Plays a role in commissural axon guidance cross the ventral midline of the neural tube in a Slit-dependent manner, possibly by mediating the deubiquitination of ROBO1. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination of beta-arrestins (ARRB1 and ARRB2) and beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains.
messages: Golgi apparatus
messages: Increased expression in S and early G2 phases and lower levels in late G2 and M phases.
messages: Interacts with VHL, leading to its ubiquitination and subsequent degradation (PubMed:11739384). Interacts with ARRB1 and ARRB2 (PubMed:19363159). Interacts with ADRB2 (PubMed:19424180). Interacts with DIO2 (PubMed:12865408). Interacts with ROBO1. Interacts with SELENBP1; in a selenium-dependent manner (PubMed:19118533). Interacts with CCP110 (PubMed:23486064). Interacts with ADRB2 (PubMed:23166351).
messages: The UBP-type zinc finger binds 3 zinc ions. However, it does not bind ubiquitin, probably because the conserved Arg in position 86 is replaced by a Glu residue.
messages: Ubiquitinated via a VHL-dependent pathway for proteasomal degradation.
messages: Widely expressed.
messages: centrosome
messages: perinuclear region

9606:CAMKK2
gene id: 9606:CAMKK2
uniprot id: A0A024RBQ3
uniprot id: Q96RR4
names: Activity Regulation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by Ca(2+)/calmodulin. Binding of calmodulin may relieve intrasteric autoinhibition. Autophosphorylation does not alter activity or regulation by Ca(2+)/calmodulin. In part, activity is independent on Ca(2+)/calmodulin (By similarity).
messages: Autophosphorylated and phosphorylated by PKA. Each isoform may show a different pattern of phosphorylation.
messages: Belongs to the protein kinase superfamily.
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Isoform 1, isoform 2 and isoform 3 phosphorylate CAMK1 and CAMK4. Isoform 3 phosphorylates CAMK1D. Isoform 4, isoform 5 and isoform 6 lacking part of the calmodulin-binding domain are inactive. Efficiently phosphorylates 5'-AMP-activated protein kinase (AMPK) trimer, including that consisting of PRKAA1, PRKAB1 and PRKAG1. This phosphorylation is stimulated in response to Ca(2+) signals (By similarity). Seems to be involved in hippocampal activation of CREB1 (By similarity). May play a role in neurite growth. Isoform 3 may promote neurite elongation, while isoform 1 may promoter neurite branching.
messages: Cytoplasm
messages: Inactive. Does not activate CAMK1 and CAMK4.
messages: Interacts with calmodulin.
messages: Intron retention.
messages: Major isoform.
messages: Nucleus
messages: The RP domain (arginine/proline-rich) is involved in the recognition of CAMKI and CAMK4 as substrates.
messages: The autoinhibitory domain overlaps with the calmodulin binding region and may be involved in intrasteric autoinhibition.
messages: Ubiquitously expressed with higher levels in the brain. Intermediate levels are detected in spleen, prostate, thyroid and leukocytes. The lowest level is in lung.
messages: Up-regulated by PKA pathway.
messages: neuron projection

9606:SKA3
gene id: 9606:SKA3
uniprot id: Q8IX90
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SKA3 family.
messages: Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:19289083, PubMed:19360002, PubMed:23085020). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083, PubMed:19360002). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). In the complex, it mediates the microtubule-stimulated oligomerization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020).
messages: Component of the SKA1 complex, composed of SKA1, SKA2 and SKA3 (PubMed:19289083, PubMed:19360002). The core SKA1 complex is composed of 2 SKA1-SKA2 heterodimers, each heterodimer interacting with a molecule of the SKA3 homodimer (PubMed:19289083, PubMed:19360002). The core SKA1 complex associates with microtubules and forms oligomeric assemblies (PubMed:19289083, PubMed:19360002, PubMed:23085020). Interacts with SKA1; the interaction is direct (PubMed:19289083, PubMed:23085020).
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: kinetochore
messages: spindle

9606:FRMD3
gene id: 9606:FRMD3
uniprot id: A2A2Y4
names: Developmental Stage
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in skeletal muscle, lower levels in thymus and brain.
messages: Membrane
messages: Ovary-specific.
messages: Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.

9606:DST
gene id: 9606:DST
uniprot id: B4DSS9
uniprot id: E9PHM6
uniprot id: F6QMI7
uniprot id: Q03001
uniprot id: Q6P0N6
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Contaminating sequence. Sequence of unknown origin in the C-terminal part.
messages: Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity).
messages: Endoplasmic reticulum membrane
messages: H zone
messages: Homodimer. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Interacts with the neuronal intermediate filament protein, PRPH. Interacts with DES. Interacts with SYNE3 (By similarity). Isoform 1 and isoform 6 can homodimerize (via N-terminus). Isoform 1 interacts (via N-terminus) with ACTN2. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Isoform 3 interacts (via N-terminus) with COL17A1 (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ITGB4 isoform beta-4a (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ERBIN (via C-terminus). Isoform 3 associates (via C-terminal) with KRT5-KRT14 (via rod region) intermediate filaments of keratins. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with TMIGD2. Isoform 9 interacts with TMEM108 (By similarity).
messages: Incomplete sequence.
messages: Incomplete sequence. Transmembrane protein (helical transmembrane domain from amino acid 18 to 38).
messages: Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes.
messages: Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermediate filaments proteins and most likely involves recognition sites located in the rod domain of these keratins.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Membrane
messages: Nucleus
messages: Nucleus envelope
messages: Plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.
messages: Probably myristoylated on Gly-2. Probably S-palmitoylated on Cys-5 and Cys-7.
messages: Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.
messages: Required for bundling actin filaments around the nucleus.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
messages: Z line
messages: axon
messages: cell cortex
messages: cytoskeleton
messages: hemidesmosome
messages: stress fiber

9606:ITGA7
gene id: 9606:ITGA7
uniprot id: Q13683
uniprot id: Q4LE35
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A 70 kDa form is created by proteolytic cleavage. Cleavage is elevated during myogenic differentiation and the cleaved form enhances cell adhesion and spreading on laminin.
messages: ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes.
messages: Belongs to the integrin alpha chain family.
messages: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-7 associates with beta-1. Interacts with COMP (By similarity). Interacts (via C-terminus intracellular tail region) with CIB1; the interaction is stabilized/increased in a calcium- and magnesium-dependent manner.
messages: In renewing intestinal epithelium, expression of isoforms containing segment B correlates with the onset of enterocytic differentiation.
messages: Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells.
messages: Isoforms containing segment A are predominantly expressed in skeletal muscle. Isoforms containing segment B are abundantly expressed in skeletal muscle, moderately in cardiac muscle, small intestine, colon, ovary and prostate and weakly in lung and testes. Isoforms containing segment X2D are expressed at low levels in fetal and adult skeletal muscle and in cardiac muscle, but are not detected in myoblasts and myotubes. In muscle fibers isoforms containing segment A and B are expressed at myotendinous and neuromuscular junctions; isoforms containing segment C are expressed at neuromuscular junctions and at extrasynaptic sites. Isoforms containing segments X1 or X2 or, at low levels, X1X2 are expressed in fetal and adult skeletal muscle (myoblasts and myotubes) and cardiac muscle.
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CFTR
gene id: 9606:CFTR
uniprot id: A0A024R730
uniprot id: P13569
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF).
messages: Apical cell membrane
messages: Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily.
messages: Binds and hydrolyzes ATP via the two cytoplasmic ABC transporter nucleotide-binding domains (PubMed:15284228). The two ATP-binding domains interact with each other, forming a head-to-tail dimer (PubMed:17036051). Normal ATPase activity requires interaction between the two domains (PubMed:15284228). The first ABC transporter nucleotide-binding domain has no ATPase activity by itself (By similarity).
messages: Cell membrane
messages: Early endosome membrane
messages: Endoplasmic reticulum membrane
messages: Endosome membrane
messages: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731, PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and ca…
messages: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer.
messages: Exon 9 splicing depends upon 2 polymorphic tracts within intron 8, a T(n) tract and TG(n) tract, where the number of T and/or TG repeats affect the extent of correct splicing of exon 9. Low numbers of T residues and high numbers of TG repeats give rise to less efficient splicing. Transcripts that lack exon 9 sequences fail to mature. Causes congenital bilateral absence of the vas deferens (CBAVD).
messages: Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level) (PubMed:22207244, PubMed:15716351). Detected in pancreatic intercalated ducts in the exocrine tissue, on epithelial cells in intralobular striated ducts in sublingual salivary glands, on apical membranes of crypt cells throughout the small and large intestine, and on the reabsorptive duct in eccrine sweat glands (PubMed:1284548, PubMed:28130590). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected in nasal and bronchial superficial epithelium (PubMed:15716351). Expressed by the central cells on the sebaceous glands, dermal adipocytes and, at lower levels, by epithelial cells (PubMed:28130590).
messages: Monomer; does not require oligomerization for channel activity (PubMed:11524016). May form oligomers in the membrane (PubMed:11524016). Interacts with SLC26A3, SLC26A6 and SHANK2 (By similarity). Interacts with SLC9A3R1 and MYO6 (PubMed:12403779, PubMed:15247260, PubMed:11304524). Interacts (via C-terminus) with GOPC (via PDZ domain); this promotes CFTR internalization and thereby decreases channel activity (PubMed:11707463, PubMed:16331976). Interacts with SLC4A7 through SLC9A3R1 (PubMed:12403779). Found in a complex with MYO5B and RAB11A (PubMed:17462998). Interacts with ANO1 (PubMed:22178883). Interacts with SLC26A8 (PubMed:22121115). Interacts with AHCYL1; the interaction increases CFTR activity (By similarity). Interacts with CSE1L (PubMed:20933420). The core-glycosylated form interacts with GORASP2 (via PDZ GRASP-type 1 domain) in respone to ER stress (PubMed:21884936). Interacts with MARCHF2; the interaction leads to CFTR ubiqtuitination and degradation (PubMed:23818989).
messages: N-glycosylated.
messages: Nucleus
messages: Phosphorylated; cAMP treatment promotes phosphorylation and activates the channel (PubMed:12588899, PubMed:17036051, PubMed:8910473). Dephosphorylation decreases the ATPase activity (in vitro) (PubMed:8910473). Phosphorylation at PKA sites activates the channel (PubMed:10792060, PubMed:12519745, PubMed:12588899, PubMed:25330774). Phosphorylation at PKC sites enhances the response to phosphorylation by PKA (PubMed:12588899). Phosphorylated by AMPK; this inhibits channel activity (PubMed:12519745).
messages: Recycling endosome membrane
messages: The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex.
messages: The R region is intrinsically disordered (PubMed:10792060, PubMed:17660831). It mediates channel activation when it is phosphorylated, but not in the absence of phosphorylation (PubMed:10792060).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. There is some evidence that the functional defect caused by the most common variant Phe-508 DEL can be corrected by the binding to the snake phospholipase A2 crotoxin basic subunit CB. This toxin both disrupts the Phe-508 DEL-cytokeratin 8 complex, allowing for the escape from degradation, and increases the chloride channel current (PubMed:27241308).
messages: Ubiquitinated, leading to its degradation in the lysosome (PubMed:19398555, PubMed:23818989). Deubiquitination by USP10 in early endosomes enhances its endocytic recycling to the cell membrane (PubMed:19398555). Ubiquitinated by RNF185 during ER stress (PubMed:24019521). Ubiquitinated by MARCHF2 (PubMed:23818989).

9606:PALM2AKAP2
gene id: 9606:PALM2AKAP2
uniprot id: Q8IXS6
uniprot id: Q9Y2D5
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein.
messages: Belongs to the paralemmin family.
messages: Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity).
messages: Cell membrane
messages: Expressed in infantile heart and muscle, and fibroblasts.
messages: The RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.

9606:SLC39A4
gene id: 9606:SLC39A4
uniprot id: Q6P5W5
uniprot id: Q9NX22
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ZIP transporter (TC 2.A.5) family.
messages: Cell membrane
messages: Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum.
messages: Membrane
messages: Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity).
messages: Recycling endosome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CAMKV
gene id: 9606:CAMKV
uniprot id: Q8NCB2
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Does not appear to have detectable kinase activity.
messages: Interacts with calmodulin, in the presence of calcium.
messages: The protein kinase domain is predicted to be catalytically inactive.

9606:RAG2
gene id: 9606:RAG2
uniprot id: P55895
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RAG2 family.
messages: Cells of the B- and T-lymphocyte lineages.
messages: Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or HMGB2.
messages: Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In the RAG complex, RAG2 is not the catalytic component but is required for all known catalytic activities mediated by RAG1. It probably acts as a sensor of chromatin state that recruits the RAG complex to H3K4me3 (By similarity).
messages: Nucleus
messages: The atypical PHD-type zinc finger recognizes and binds histone H3 trimethylated on 'Lys-4' (H3K4me3). The presence Tyr-445 instead of a carboxylate in classical PHD-type zinc fingers results in an enhanced binding to H3K4me3 in presence of dimethylated on 'Arg-2' (H3R2me2) rather than inhibited. The atypical PHD-type zinc finger also binds various phosphoinositides, such as phosphatidylinositol 3,4-bisphosphate binding (PtdIns(3,4)P2), phosphatidylinositol 3,5-bisphosphate binding (PtdIns(3,5)P2), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate binding (PtdIns(3,4,5)P3) (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:EXOSC1
gene id: 9606:EXOSC1
uniprot id: B1AMU3
uniprot id: Q9Y3B2
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CSL4 family.
messages: Component of the RNA exosome complex (PubMed:29906447). Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Interacts with EXOSC5, EXOSC7 and EXOSC10. Interacts with DDX60.
messages: Cytoplasm
messages: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC1 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC6 and EXOSC8.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nucleolus

9606:GK
gene id: 9606:GK
uniprot id: A0A8I5KXY7
uniprot id: B4DH54
uniprot id: P32189
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the FGGY kinase family.
messages: Cytoplasm
messages: Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver.
messages: Key enzyme in the regulation of glycerol uptake and metabolism.
messages: Mitochondrion outer membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ALG9
gene id: 9606:ALG9
uniprot id: Q9H6U8
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder.
messages: Belongs to the glycosyltransferase 22 family.
messages: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.
messages: Endoplasmic reticulum membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed; with highest levels in heart, liver and pancreas.

9606:HS3ST3A1
gene id: 9606:HS3ST3A1
uniprot id: Q9Y663
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sulfotransferase 1 family.
messages: Golgi apparatus membrane
messages: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate (PubMed:10520990, PubMed:9988768, PubMed:10608887, PubMed:15304505). Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2 (PubMed:10520990, PubMed:9988768, PubMed:15304505). The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry (PubMed:10520990). Unlike HS3ST1/3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate (PubMed:10520990).
messages: Ubiquitous. Most abundant in heart and placenta, followed by liver and kidney.

9606:STXBP2
gene id: 9606:STXBP2
uniprot id: Q15833
uniprot id: Q53GF4
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the STXBP/unc-18/SEC1 family.
messages: Interacts with STX1A, STX2 and STX3 (By similarity). Interacts with STX11.
messages: Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells.
messages: Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:HOATZ
gene id: 9606:HOATZ
uniprot id: Q6PI97
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the HOATZ family.
messages: Cytoplasm
messages: Required for motile ciliogenesis and flagellar genesis by mediating the maturation of the glycolytic enzyme ENO4.
messages: cilium

9606:PSG8
gene id: 9606:PSG8
uniprot id: Q9UQ74
names: Developmental Stage
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the immunoglobulin superfamily. CEA family.
messages: PSBG are produced in high quantity during pregnancy.
messages: Secreted

9606:H2AC17
gene id: 9606:H2AC17
uniprot id: A4FTV9
uniprot id: P0C0S8
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the histone H2A family.
messages: Chromosome
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Deiminated on Arg-4 in granulocytes upon calcium entry.
messages: Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.
messages: Nucleus
messages: Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.
messages: Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.

9606:SVBP
gene id: 9606:SVBP
uniprot id: Q8N300
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SVBP family.
messages: Cytoplasm
messages: Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin (PubMed:29146869, PubMed:31270470, PubMed:31235911, PubMed:31324789, PubMed:31171830, PubMed:31235910). This activity is critical for spindle function and accurate chromosome segregation during mitosis since microtuble detyronisation regulates mitotic spindle length and postioning (PubMed:31171830). Also required to enhance the solubility and secretion of VASH1 and VASH2 (PubMed:20736312, PubMed:27879017, PubMed:30607023). Plays a role in axon and excitatory synapse formation (PubMed:31235911).
messages: Interacts with VASH1 and VASH2.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton

9606:C1GALT1
gene id: 9606:C1GALT1
uniprot id: A0A024RA32
uniprot id: Q9NS00
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN.
messages: Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
messages: Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development.
messages: Homodimer; disulfide-linked (By similarity). Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity.
messages: Membrane
messages: Widely expressed. Highly expressed in kidney, heart, placenta and liver.

9606:LMX1B
gene id: 9606:LMX1B
uniprot id: B7ZLH2
uniprot id: O60663
uniprot id: Q6ISE0
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
messages: Interacts with DHX9 (PubMed:23308148).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor involved in the regulation of podocyte-expressed genes (PubMed:24042019, PubMed:28059119). Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.

9606:REV3L
gene id: 9606:REV3L
uniprot id: O60673
names: Cofactor
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DNA polymerase type-B family.
messages: Binds 1 [4Fe-4S] cluster.
messages: Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function.
messages: Heterodimer with MAD2L2. This dimer forms the minimal DNA polymerase zeta complex (Pol-zeta2), with REV3L bearing DNA polymerase catalytic activity, although its activity is very low in this context. Component of the tetrameric Pol-zeta complex (Pol-zeta4), which consists of REV3L, MAD2L2, POLD2 and POLD3; Pol-zeta4 is the fully active form of DNA polymerase zeta.
messages: Its C-terminal part could serve as the catalytic domain during nucleotide polymerization, while its N-terminal part could provide sites for protein-protein interactions with other factors during translesion DNA synthesis.
messages: Nucleus
messages: The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
messages: Ubiquitously expressed.

9606:CRAT
gene id: 9606:CRAT
uniprot id: P43155
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the carnitine/choline acetyltransferase family.
messages: Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation (PubMed:15099582, PubMed:29395073). Responsible for the synthesis of short- and branched-chain acylcarnitines (PubMed:23485643). Active towards some branched-chain amino acid oxidation pathway (BCAAO) intermediates (PubMed:23485643). Trans-2-enoyl-CoAs and 2-methylacyl-CoAs are poor substrates (PubMed:23485643).
messages: Endoplasmic reticulum
messages: Mitochondrion
messages: Mitochondrion inner membrane
messages: Monomer.
messages: Mostly in skeletal muscle, less in heart, liver and pancreas, only weakly detectable in brain, placenta, lung and kidney.
messages: Peroxisome
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NR2E1
gene id: 9606:NR2E1
uniprot id: B6ZGT9
uniprot id: Q9Y466
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the nuclear hormone receptor family.
messages: Belongs to the nuclear hormone receptor family. NR2 subfamily.
messages: Brain specific. Present in all brain sections tested, highest levels in the caudate nucleus and hippocampus, weakest levels in the thalamus.
messages: Monomer. Interacts with ATN1; the interaction represses the transcription.
messages: Nucleus
messages: Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved in retinoic acid receptor (RAR) regulation in retinal cells.

9606:SPG11
gene id: 9606:SPG11
uniprot id: Q96JI7
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in all structures of brain, with a high expression in cerebellum. Expressed in cortical projection neurons.
messages: Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26.
messages: May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: axon
messages: cytosol
messages: dendrite

9606:SCGB1A1
gene id: 9606:SCGB1A1
uniprot id: A0A0S2Z4R6
uniprot id: P11684
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Antiparallel homodimer; disulfide-linked (PubMed:7664082). Interaction with LMBR1L has been observed in PubMed:16423471, but not in PubMed:23964685 (PubMed:16423471, PubMed:23964685).
messages: Belongs to the secretoglobin family.
messages: Binds phosphatidylcholine, phosphatidylinositol, polychlorinated biphenyls (PCB) and weakly progesterone, potent inhibitor of phospholipase A2.
messages: Club cells (nonciliated cells of the surface epithelium of the pulmonary airways).
messages: Secreted

9606:ETNK2
gene id: 9606:ETNK2
uniprot id: Q9NVF9
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the choline/ethanolamine kinase family.
messages: Expressed in kidney, liver, ovary, testis and prostate.
messages: Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity).

9606:ZNF391
gene id: 9606:ZNF391
uniprot id: Q9UJN7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:PLIN5
gene id: 9606:PLIN5
uniprot id: Q00G26
names: Function
names: Induction
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the perilipin family.
messages: Cytoplasm
messages: Expressed in skeletal muscle, liver, heart and kidney.
messages: Homooligomer. Interacts with PNPLA2; prevents interaction of PNPLA2 with ABHD5. Interacts with ABHD5; targets ABHD5 to lipid droplets and promotes interaction of ABHD5 with PNPLA2. Interacts with LIPE (By similarity).
messages: Increased by endurance and sprint interval training.
messages: Lipid droplet
messages: Lipid droplet-associated protein that maintains the balance between lipogenesis and lipolysis and also regulates fatty acid oxidation in oxidative tissues. Recruits mitochondria to the surface of lipid droplets and is involved in lipid droplet homeostasis by regulating both the storage of fatty acids in the form of triglycerides and the release of fatty acids for mitochondrial fatty acid oxidation. In lipid droplet triacylglycerol hydrolysis, plays a role as a scaffolding protein for three major key lipolytic players: ABHD5, PNPLA2 and LIPE. Reduces the triacylglycerol hydrolase activity of PNPLA2 by recruiting and sequestering PNPLA2 to lipid droplets. Phosphorylation by PKA enables lipolysis probably by promoting release of ABHD5 from the perilipin scaffold and by facilitating interaction of ABHD5 with PNPLA2. Also increases lipolysis through interaction with LIPE and upon PKA-mediated phosphorylation of LIPE (By similarity).
messages: Mitochondrion
messages: Phosphorylated by PKA. Phosphorylated on serine in skeletal muscle at rest or upon lipolytic stimulation (By similarity).
messages: Probable cloning artifact.

9606:DEFB110
gene id: 9606:DEFB110
uniprot id: Q30KQ9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the beta-defensin family.
messages: Has antibacterial activity.
messages: Secreted

9606:LCN2
gene id: 9606:LCN2
uniprot id: P80188
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the calycin superfamily. Lipocalin family.
messages: Cytoplasmic granule lumen
messages: Cytoplasmic vesicle lumen
messages: Detected in neutrophils (at protein level) (PubMed:7683678, PubMed:8298140). Expressed in bone marrow and in tissues that are prone to exposure to microorganism. High expression is found in bone marrow as well as in uterus, prostate, salivary gland, stomach, appendix, colon, trachea and lung. Not found in the small intestine or peripheral blood leukocytes.
messages: Expression is activated by the oncoprotein BCR-ABL; BCR-ABL misregulates expression via the JAK/STAT pathway and binding of STAT5A to the promoter.
messages: Iron-trafficking protein involved in multiple processes such as apoptosis, innate immunity and renal development (PubMed:12453413, PubMed:27780864, PubMed:20581821). Binds iron through association with 2,3-dihydroxybenzoic acid (2,3-DHBA), a siderophore that shares structural similarities with bacterial enterobactin, and delivers or removes iron from the cell, depending on the context. Iron-bound form (holo-24p3) is internalized following binding to the SLC22A17 (24p3R) receptor, leading to release of iron and subsequent increase of intracellular iron concentration. In contrast, association of the iron-free form (apo-24p3) with the SLC22A17 (24p3R) receptor is followed by association with an intracellular siderophore, iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration. Involved in apoptosis due to interleukin-3 (IL3) deprivation: iron-loaded form increases intracellular iron concentration without promoting apoptosis, while iron-free form decreases intracellular iron levels, inducing expression of the proapoptotic protein BCL2L11/BIM, resulting in apoptosis (By similarity). Involved in innate immunity; limits bacterial proliferation by sequestering iron bound to microbial siderophores, such as enterobactin (PubMed:27780864). Can also bind siderophores from M.tuberculosis (PubMed:15642259, PubMed:21978368).
messages: Monomer (PubMed:7683678, PubMed:1281792). Homodimer; disulfide-linked (PubMed:7683678). Heterodimer; disulfide-linked with MMP9 (PubMed:7683678).
messages: Secreted

9606:COQ9
gene id: 9606:COQ9
uniprot id: A0A024R6U3
uniprot id: O75208
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the COQ9 family.
messages: Homodimer. Interacts with COQ7.
messages: Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration.
messages: Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.
messages: Mitochondrion
messages: Structurally similar to the bacterial FadR protein (fatty acid metabolism regulator protein).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:H3C14
gene id: 9606:H3C14
uniprot id: Q71DI3
names: Caution
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability.
messages: Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.
messages: Belongs to the histone H3 family.
messages: Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.
messages: Chromosome
messages: Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Dopaminylated by TGM2 at Gln-6 (H3Q5dop) in ventral tegmental area (VTA) neurons (PubMed:32273471). H3Q5dop mediates neurotransmission-independent role of nuclear dopamine by regulating relapse-related transcriptional plasticity in the reward system (By similarity).
messages: Expressed during S phase, then expression strongly decreases as cell division slows down during the process of differentiation.
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression.
messages: Methylation at Lys-5 (H3K4me), Lys-37 (H3K36me) and Lys-80 (H3K79me) are linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at 'Lys-120'. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication.
messages: Monoubiquitinated by RAG1 in lymphoid cells, monoubiquitination is required for V(D)J recombination. Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins.
messages: Nucleus
messages: Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 or isoform M2 of PKM (PKM2) is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin.
messages: Serine ADP-ribosylation by PARP1 or PARP2 constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802, PubMed:34874266). Serine ADP-ribosylation at Ser-11 (H3S10ADPr) promotes recruitment of CHD1L (PubMed:34874266). H3S10ADPr is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac) (PubMed:30257210).
messages: Serotonylated by TGM2 at Gln-6 (H3Q5ser) during serotonergic neuron differentiation (PubMed:30867594). H3Q5ser is associated with trimethylation of Lys-5 (H3K4me3) and enhances general transcription factor IID (TFIID) complex-binding to H3K4me3, thereby facilitating transcription (PubMed:30867594).
messages: Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes (PubMed:29211711). It gives a specific tag for epigenetic transcription activation (PubMed:29211711). Desuccinylation at Lys-123 (H3K122succ) by SIRT7 in response to DNA damage promotes chromatin condensation and double-strand breaks (DSBs) repair (PubMed:27436229).
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. During nucleosome assembly the chaperone ASF1A interacts with the histone H3-H4 heterodimer. Interacts with DNAJC9, CHAF1A and CHAF1B (PubMed:33857403).
messages: The original paper reporting lysine deamination at Lys-5 by LOXL2 has been retracted due to inappropriate manipulation of figure data (PubMed:22483618, PubMed:27392148). However, this modification was confirmed in a subsequent publication (PubMed:27735137).

9606:CMTM5
gene id: 9606:CMTM5
uniprot id: Q96DZ9
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the chemokine-like factor family.
messages: Highly expressed in the brain.
messages: Membrane

9606:FIP1L1
gene id: 9606:FIP1L1
uniprot id: Q6UN15
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving FIP1L1 is found in some cases of hypereosinophilic syndrome. Interstitial chromosomal deletion del(4)(q12q12) causes the fusion of FIP1L1 and PDGFRA (FIP1L1-PDGFRA).
messages: Belongs to the FIP1 family.
messages: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex.
messages: Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1. Found in a complex with CPSF1, FIP1L1 and PAPOLA. Interacts with CPSF1, CPSF4, CSTF2 and CSTF3 (PubMed:14749727). Interacts with AHCYL1 (when phosphorylated); the interaction is direct and associates AHCYL1 with the CPSF complex and RNA (PubMed:19224921). Interacts with NUDT21/CPSF5; this interaction occurs in a RNA sequence-specific manner (PubMed:15937220). Interacts (preferentially via unphosphorylated form and Arg/Glu/Asp-rich domain) with CPSF6 (via Arg/Ser-rich domain); this interaction mediates, at least in part, the interaction between the CFIm and CPSF complexes and may be inhibited by CPSF6 hyper-phosphorylation (PubMed:29276085). Interacts (preferentially via unphosphorylated form and Arg/Asp/Glu-rich domain) with CPSF7 (via Arg/Ser-rich domain); this interaction mediates, at least in part, the interaction between the CFIm and CPSF complexes and may be inhibited by CPSF7 hyper-phosphorylation (PubMed:29276085). Interacts with PAPOLA; the interaction seems to be increased by the interaction with AHCYL1 (By similarity).
messages: Intron retention.
messages: Nucleus

9606:NUPR2
gene id: 9606:NUPR2
uniprot id: A6NF83
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
messages: Acts as a transcriptional repressor by inhibiting gene expression at the NUPR1 promoter in a p53/TP53-dependent manner in cancer cells (PubMed:25899918). Involved in the G1 cell cycle arrest, and in a decrease in cell viability and cell proliferation (PubMed:25899918). Plays a role as a negative regulator of the protumoral factor NUPR1 (PubMed:25899918).
messages: Belongs to the NUPR family.
messages: Nucleus
messages: Up-regulated by p53/TP53 in cancer cells (PubMed:25899918). Up-regulated by DNA damage stimulus or starvation (PubMed:25899918).

9606:SLC6A2
gene id: 9606:SLC6A2
uniprot id: A0A024R6T9
uniprot id: H3BRE9
uniprot id: P23975
names: Activity Regulation
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family.
messages: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily.
messages: Cell membrane
messages: Inhibited by mazindol, desipramine, nomifensine and nortriptyline.
messages: Interacts with PRKCABP.
messages: Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline) (PubMed:2008212, PubMed:8125921). Can also mediate sodium- and chloride-dependent transport of dopamine (PubMed:8125921, PubMed:11093780).
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This protein is the target of psychomotor stimulants such as amphetamines or cocaine.

9606:FBXO7
gene id: 9606:FBXO7
uniprot id: Q9Y3I1
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interact (via N-terminal region) with PINK1.
messages: Interacts (via the N-terminal Ubl domain) with PRKN (PubMed:23933751). Interact (via N-terminal region) with PINK1 (PubMed:23933751).
messages: Mitochondrion
messages: Nucleus
messages: Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO7) formed of CUL1, SKP1, RBX1 and FBXO7. Interacts via its C-terminal proline-rich region with DLGAP5. Interacts with BIRC2. Interacts with CDK6 and promotes its interaction with D-type cyclin. Interacts with PSMF1.
messages: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The proline-rich region is important for protein-protein interactions.
messages: The ubiquitin-like region mediates interaction with PRKN.
messages: cytosol

9606:DLEU7
gene id: 9606:DLEU7
uniprot id: Q6UYE1
names: Developmental Stage
names: Tissue Specificity
messages: Expressed in the fetal brain, liver and kidney.
messages: Ubiquitous.

9606:SETD5
gene id: 9606:SETD5
uniprot id: Q9C0A6
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion.
messages: Chromosome
messages: Interacts with components of the PAF1 complex (PAF1C) such as LEO1, CTR9 and CDC73. Interacts with NCOR1. Interacts with HDAC3.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:STAU1
gene id: 9606:STAU1
uniprot id: O95793
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Ebola virus NP, VP30 and VP35.
messages: (Microbial infection) Interacts with HERV-K rec and gag proteins.
messages: (Microbial infection) Interacts with HIV-1 GAG polyprotein.
messages: (Microbial infection) Interacts with influenza virus NS1 protein.
messages: (Microbial infection) Plays a role in virus particles production of many viruses including of HIV-1, HERV-K, ebola virus and influenza virus. Acts by interacting with various viral proteins involved in particle budding process.
messages: Binds double-stranded RNA (regardless of the sequence) and tubulin. May play a role in specific positioning of mRNAs at given sites in the cell by cross-linking cytoskeletal and RNA components, and in stimulating their translation at the site.
messages: Binds tubulin. Binds with low affinity single-stranded RNA or DNA homopolymers. Interacts with CASC3 in an RNA-dependent manner (By similarity). Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1.
messages: Cytoplasm
messages: One of the DRDB could be involved in RER binding.
messages: Rough endoplasmic reticulum
messages: The C-terminal contains the tubulin binding domain (TBD).
messages: Widely expressed. Expressed in brain, pancreas, heart, skeletal muscles, liver, lung, kidney and placenta.

9606:ATG12
gene id: 9606:ATG12
uniprot id: O94817
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) May act as a proviral factor. In association with ATG5, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for the initiation of HCV replication, but not required once infection is established (PubMed:19666601).
messages: Acetylated by EP300.
messages: Belongs to the ATG12 family.
messages: Cytoplasm
messages: Expression is induced by mitochondrial DNA deletions, chloramphenicol and nicotinamide.
messages: Forms a conjugate with ATG5 (PubMed:11096062, PubMed:12207896, PubMed:11825910, PubMed:17709747, PubMed:26812546, PubMed:23202584). The ATG12-ATG5 conjugate forms a complex with several units of ATG16L1 (PubMed:23202584). Forms an 800-kDa complex composed of ATG12-ATG5 and ATG16L2 (By similarity). Interacts with DHX58/RIG-1, IFIH1/MDA5 and MAVS/IPS-1 in monomeric form as well as in ATG12-ATG5 conjugate. The interaction with MAVS is further enhanced upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Interacts with ATG3 and ATG7 (PubMed:11096062, PubMed:12207896, PubMed:11825910, PubMed:23202584). Interacts with ATG10 (By similarity). Interacts with TECPR1 (PubMed:22342342). Interacts with SH3BGRL (PubMed:34870550).
messages: Preautophagosomal structure membrane
messages: Shares weak sequence similarity with ubiquitin family, but contains an 'ubiquitin superfold' and the C-terminal Gly is required for isopeptide linkage.
messages: Small amount of ATG5-ATG12 conjugate is enough to perform normal autophagy.
messages: Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes.
messages: Ubiquitous.

9606:ANKK1
gene id: 9606:ANKK1
uniprot id: Q8NFD2
names: Similarity
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
messages: Highly expressed in brain and weakly expressed in placenta and spinal cord.

9606:DYSF
gene id: 9606:DYSF
uniprot id: O75923
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: All seven C2 domains associate with lipid membranes in a calcium-dependent manner. Domains C2 1 and 3 have the highest affinity for calcium, the C2 domain 1 seems to be largely unstructured in the absence of bound ligands. The C2 domain 1 from isoform 14 does not bind calcium in the absence of bound phospholipid (PubMed:24239457, PubMed:24461013).
messages: Belongs to the ferlin family.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas.
messages: Expression in limb tissue from 5-6 weeks embryos; persists throughout development.
messages: Interacts with CACNA1S. Interacts with ANXA1; the interaction is Ca(2+)- and injury state-dependent. Interacts with ANXA2; the interaction is Ca(2+)- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation (By similarity). Interacts with RIPOR2; this interaction occurs during early myogenic differentiation (PubMed:24687993). Interacts with CAV3 and PARVB. Interacts with AHNAK; the interaction is direct and Ca(2+)-independent. Interacts with AHNAK2; the interaction is direct and Ca(2+)-independent.
messages: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).
messages: Produced by alternative promoter usage.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: sarcolemma

9606:NACA2
gene id: 9606:NACA2
uniprot id: Q9H009
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NAC-alpha family.
messages: Cytoplasm
messages: Expressed specifically in testis and skeletal muscle.
messages: NACAL arose from a recent (40-63 million-year-old), anthropoid primate-specific retroduplication of NACA.
messages: Nucleus
messages: Part of the nascent polypeptide-associated complex (NAC), consisting of NACA and BTF3. NAC associates with ribosomes through the BTF3 subunit. Both subunits can contact nascent polypeptide chains (By similarity).
messages: Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity).

9606:STT3B
gene id: 9606:STT3B
uniprot id: Q8TCJ2
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the STT3 family.
messages: Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (By similarity). STT3B is present in a small subset of OST complexes and mediates both cotranslational and post-translational N-glycosylation of target proteins: STT3B-containing complexes are required for efficient post-translational glycosylation and while they are less competent than STT3A-containing complexes for cotranslational glycosylation, they have the ability to mediate glycosylation of some nascent sites that are not accessible for STT3A. STT3B-containing complexes also act post-translationally and mediate modification of skipped glycosylation sites in unfolded proteins. Plays a role in ER-associated degradation (ERAD) pathway that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins by mediating N-glycosylation of unfolded proteins, which are then recognized by the ERAD pathway and targeted for degradation. Mediates glycosylation of the disease variant AMYL-TTR 'Asp-38' of TTR at 'Asn-118', leading to its degradation (PubMed:19167329, PubMed:22607976).
messages: Component of the oligosaccharyltransferase (OST) complex (PubMed:31831667). OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits (PubMed:31831667). OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity).
messages: Despite low primary sequence conservation between eukaryotic catalytic subunits and bacterial and archaeal single subunit OSTs (ssOST), structural comparison revealed several common motifs at spatially equivalent positions, like the DXD motif 1 on the external loop 1 and the DXD motif 2 on the external loop 2 involved in binding of the metal ion cofactor and the carboxamide group of the acceptor asparagine, the conserved Glu residue of the TIXE/SVSE motif on the external loop 5 involved in catalysis, as well as the WWDYG and the DK/MI motifs in the globular domain that define the binding pocket for the +2 Ser/Thr of the acceptor sequon. In bacterial ssOSTs, an Arg residue was found to interact with a negatively charged side chain at the -2 position of the sequon. This Arg is conserved in bacterial enzymes and correlates with an extended sequon requirement (Asp-X-Asn-X-Ser/Thr) for bacterial N-glycosylation.
messages: Endoplasmic reticulum
messages: Endoplasmic reticulum membrane
messages: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. Expressed in skin fibroblasts (at protein level).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:UNC119
gene id: 9606:UNC119
uniprot id: K7EN86
uniprot id: Q13432
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundantly expressed in retina, in photoreceptor synapses and inner segments. Expressed in a much lesser extent in several other tissues.
messages: According to some authors, acts by extracting target proteins from membranes (PubMed:21642972). According to a another report, rather acts by targeting proteins to membranes (PubMed:22085962).
messages: Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that captures N-terminally myristoylated target peptides (PubMed:21642972). Phe residues within the hydrophobic beta sandwich are required for myristate binding (PubMed:22085962).
messages: Belongs to the PDE6D/unc-119 family.
messages: Defects in UNC119 may be a cause of cone-rod dystrophy. A mutation was found in a 57-year-old woman with late-onset cone-rod dystrophy: from 40 year old, the patient suffered from poor night vision, defective color vision and light-sensitivity. At 57 year old, she displayed reduced visual acuity, myopa, macular atrophy and pericentral ring scotomas. The disease was caused by a heterozygous mutation causing premature termination and truncated UNC119 protein with dominant-negative effect.
messages: Interacts with CABP4; in the absence of calcium (By similarity). Interacts with DNM1; leading to a decrease of DNM1 GTPase activity (By similarity). May interact with GTP-bound ARL1. Interacts with ARL2 and ARL3 (GTP-bound forms); this promotes the release of myyristoylated cargo proteins (PubMed:22960633, PubMed:30945270). Found in a complex with ARL3, RP2 and UNC119; RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated). Interacts with MACIR; interaction only takes place when UNC119 is not liganded with myristoylated proteins. Interacts with LCK; this interaction plays a crucial role in activation of LCK. Interacts with FYN. Interacts with RAB11A; in a cell cycle-dependent manner. Interacts with LYN (via SH2 and SH3 domains); leading to LYN activation. Found in a complex with ABL1, ABL2, CRK and UNC119; leading to the inhibition of CRK phosphorylation by ABL kinases. Interacts with CD44; leading to Shigella invasion. Interacts with KLHL18 (via kelch repeats) (PubMed:31696965). Interacts with PPP3CA, PPP3CB and PPP3CC (By similarity).
messages: Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.
messages: Phosphorylation suppresses its interaction with KLHL18 and down-regulates its KLHL18-mediated degradation (PubMed:31696965). Phosphorylated more under light conditions than dark conditions (PubMed:31696965). Dephosphorylated by calcineurin (PubMed:31696965).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome
messages: spindle
messages: spindle pole

9606:LFNG
gene id: 9606:LFNG
uniprot id: Q8NES3
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: A soluble form may be derived from the membrane form by proteolytic processing.
messages: Belongs to the glycosyltransferase 31 family.
messages: Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity).
messages: Golgi apparatus membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:FOXD4
gene id: 9606:FOXD4
uniprot id: Q12950
names: Subcellular Location Annotation
messages: Nucleus

9606:TPH2
gene id: 9606:TPH2
uniprot id: Q8IWU9
names: Disease Annotation
names: RNA Editing
names: Similarity
names: Tissue Specificity
messages: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
messages: Brain specific.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. Naturally occurring variants of TPH2 with impaired enzyme activity could cause deficiency of serotonin production and result in an increased risk of developing behavioral disorders.
messages: Modulates the kinetic properties of both isoforms.

9606:RCL1
gene id: 9606:RCL1
uniprot id: Q5VZU3
uniprot id: Q9Y2P8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the RNA 3'-terminal cyclase family. Type 2 subfamily.
messages: Does not have cyclase activity. Plays a role in 40S-ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA (By similarity).
messages: Does not have cyclase activity. Plays a role in 40S-ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA.
messages: nucleolus

9606:MMP11
gene id: 9606:MMP11
uniprot id: B3KQS8
uniprot id: P24347
names: Cofactor
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase M10A family.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Binds 2 Zn(2+) ions per subunit.
messages: May play an important role in the progression of epithelial malignancies.
messages: Specifically expressed in stromal cells of breast carcinomas.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: The precursor is cleaved by a furin endopeptidase.
messages: extracellular matrix

9606:TFAP2E
gene id: 9606:TFAP2E
uniprot id: Q6VUC0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the AP-2 family.
messages: Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity).
messages: Expressed in skin, primary keratinocytes, immortalized keratinocytes, and HeLa cell line.
messages: Nucleus
messages: Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity).

9606:S1PR3
gene id: 9606:S1PR3
uniprot id: Q99500
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in all tissues, but most abundantly in heart, placenta, kidney, and liver.
messages: Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis.

9606:C6orf120
gene id: 9606:C6orf120
uniprot id: B4DJ79
uniprot id: Q7Z4R8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the UPF0669 family.
messages: Mainly expressed in hepatocytes and some weak expression in germinal center cells of lymph nodes.
messages: May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes.
messages: Secreted

9606:ITGA10
gene id: 9606:ITGA10
uniprot id: B4E282
uniprot id: O75578
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the integrin alpha chain family.
messages: Heterodimer of an alpha and a beta subunit. Alpha-10 associates with beta-1.
messages: Integrin alpha-10/beta-1 is a receptor for collagen.
messages: Membrane
messages: The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
messages: Widely expressed with highest expression in muscle and heart. Found in articular cartilage.

9606:FGF20
gene id: 9606:FGF20
uniprot id: A0A7U3L649
uniprot id: Q9NP95
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the heparin-binding growth factors family.
messages: Homodimer. Interacts with FGFR2 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.
messages: It is uncertain whether variants in this gene are associated with Parkinson disease. Some authors mention association with the disease (PubMed:18252210). In contrast, some others do not observe any association (PubMed:19133659).
messages: Neurotrophic factor that regulates central nervous development and function.
messages: Predominantly expressed in the cerebellum.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:BANF1
gene id: 9606:BANF1
uniprot id: A0A024R5H0
uniprot id: O75531
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Exploited by retroviruses for inhibiting self-destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome (PubMed:9465049, PubMed:11005805, PubMed:16680152). EMD and BAF are cooperative cofactors of HIV-1 infection (PubMed:16680152). Association of EMD with the viral DNA requires the presence of BAF and viral integrase (PubMed:16680152). The association of viral DNA with chromatin requires the presence of BAF and EMD (PubMed:16680152).
messages: (Microbial infection) Interacts with HIV-1 pre-integration complex in cytoplasm by binding to viral matrix protein and Gag polyprotein.
messages: (Microbial infection) Phosphorylated at the N-terminus by vaccinia virus (VacV) B1 kinase, leading to BANF1 relocalization to the cytoplasm, loss of dimerization and impaired DNA binding activity (PubMed:24600006, PubMed:16495336). Hyperphosphorylation is linked to the loss of ability to suppress vaccinia virus replication (PubMed:24600006).
messages: (Microbial infection) Phosphorylated by poxvirus B1 kinase (VPK1) on serine and threonine residues, leading to BANF1 relocalization to the cytoplasm, loss of dimerization and impaired DNA binding activity.
messages: Belongs to the BAF family.
messages: Chromosome
messages: Cytoplasm
messages: Has a helix-hairpin-helix (HhH) structural motif conserved among proteins that bind non-specifically to DNA.
messages: Homodimer (PubMed:16337940, PubMed:22399800, PubMed:28841419). Heterodimerizes with BANF2 (PubMed:16337940). Interacts with ANKLE2/LEM4, leading to decreased phosphorylation by VRK1 and promoting dephosphorylation by protein phosphatase 2A (PP2A) (PubMed:22770216). Binds non-specifically to double-stranded DNA, and is found as a hexamer or dodecamer upon DNA binding. Binds to LEM domain-containing nuclear proteins such as LEMD3/MAN1, TMPO/LAP2 and EMD (emerin) (PubMed:11792822, PubMed:15681850). Interacts with ANKLE1 (via LEM domain); the interaction may favor BANF1 dimerization (PubMed:22399800). Interacts with CRX and LMNA (lamin-A). Binds linker histone H1.1 and core histones H3 (PubMed:16203725). Interacts with LEMD2 (via LEM domain) (PubMed:32494070). Interacts with PARP1; interaction takes place in response to oxidative DNA damage (PubMed:31796734).
messages: LEM domain proteins bind centrally on the BAF dimer.
messages: Non-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA (PubMed:10908652, PubMed:11792822, PubMed:12163470, PubMed:18005698, PubMed:25991860, PubMed:28841419, PubMed:31796734, PubMed:32792394). Contains two non-specific double-stranded DNA (dsDNA)-binding sites which promote DNA cross-bridging (PubMed:9465049). Plays a key role in nuclear membrane reformation at the end of mitosis by driving formation of a single nucleus in a spindle-independent manner (PubMed:28841419). Transiently cross-bridges anaphase chromosomes via its ability to bridge distant DNA sites, leading to the formation of a dense chromatin network at the chromosome ensemble surface that limits membranes to the surface (PubMed:28841419). Also acts as a negative regulator of innate immune activation by restricting CGAS activity toward self-DNA upon acute loss of nuclear membrane integrity (PubMed:32792394). Outcompetes CGAS for DNA-binding, thereby preventing CGAS activation and subsequent damaging autoinflammatory responses (PubMed:32792394). Also involved in DNA damage response: interacts with PARP1 in response to oxidative stress, thereby inhibiting the ADP-ribosyltransferase activity of PARP1 (PubMed:31796734). Involved in the recognition of exogenous dsDNA in the cytosol: associates with exogenous dsDNA immediately after its appearance in the cytosol at endosome breakdown and is required to avoid autophagy (PubMed:25991860). In case of poxvirus infection, has an antiviral activity by blocking viral DNA replication (PubMed:18005698).
messages: Nucleus
messages: Nucleus envelope
messages: Ser-4 is the major site of phosphorylation as compared to Thr-2 and Thr-3. Phosphorylation on Thr-2; Thr-3 and Ser-4 disrupts its ability to bind DNA and reduces its ability to bind LEM domain-containing proteins. Non phosphorylated BAF seems to enhance binding between EMD and LMNA. Dephosphorylated by protein phosphatase 2A (PP2A) following interaction with ANKLE2/LEM4 during mitotic exit, leading to mitotic nuclear envelope reassembly.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Expressed in colon, brain, heart, kidney, liver, lung, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen and testis. Not detected in thymus and peripheral blood leukocytes.

9606:CHIC1
gene id: 9606:CHIC1
uniprot id: Q5VXU3
names: Caution
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CHIC family.
messages: Cell membrane
messages: Cytoplasmic vesicle
messages: Equally expressed in various parts of the brain.
messages: It is uncertain whether Met-1 or Met-8 is the initiator.
messages: Palmitoylated.

9606:DNAAF4
gene id: 9606:DNAAF4
uniprot id: A0A0S2Z5Z4
uniprot id: Q8WXU2
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. A chromosomal aberration involving DNAAF4 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).
messages: Dynein axonemal particle
messages: Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a fraction of cortical neurons and white matter glial cells.
messages: Interacts with ZMYND10 (PubMed:29601588). Interacts with ESR1 and ESR2 (PubMed:19423554). Interacts with STUB1 (PubMed:19423554). Interacts with DNAAF2 (PubMed:23872636). Interacts with CCT3, CCT4, CCT5 and CCT8 (By similarity). Interacts with DNAAF6/PIH1D3 (PubMed:28041644).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: neuron projection

9606:OR8D4
gene id: 9606:OR8D4
uniprot id: Q8NGM9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:TMPRSS12
gene id: 9606:TMPRSS12
uniprot id: Q86WS5
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S1 family.
messages: In testis, expressed in spermatocytes and spermatids. Expressed in colorectal cancer (at protein level).
messages: Membrane

9606:FOXQ1
gene id: 9606:FOXQ1
uniprot id: Q9C009
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed predominantly in the stomach, trachea, bladder and salivary gland.
messages: Nucleus
messages: Plays a role in hair follicle differentiation.

9606:F2RL2
gene id: 9606:F2RL2
uniprot id: O00254
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Highest expression in the megakaryocytes of the bone marrow, lower in mature megakaryocytes, in platelets and in a variety of other tissues such as heart and gut.
messages: Interacts with INSC/inscuteable and probably GPSM2.
messages: Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis.

9606:CSK
gene id: 9606:CSK
uniprot id: A8K3B6
uniprot id: B2R6Q4
uniprot id: P41240
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSK subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in lung and macrophages.
messages: Homodimer (via SH3-domain) (PubMed:19888460). Interacts with PTPN22 (PubMed:15208781). Interacts with phosphorylated SIT1, PAG1, LIME1 and TGFB1I1; these interactions serve to recruit CSK to the membrane where it can phosphorylate and inhibit Src-family kinases (PubMed:11433379, PubMed:10790433, PubMed:14610046, PubMed:10838081). Interacts with SRCIN1 (PubMed:17525734). Interacts with RHOH (PubMed:20851766). Interacts (via SH2 domain) with SCIMP; this interaction is dependent on phosphorylation of SCIMP 'Tyr-107' (PubMed:21930792). Interacts (via SH2 domain) with PRAG1 (when phosphorylated at 'Tyr-391'); this interaction prevents translocation of CSK from the cytoplasm to the membrane leading to increased activity of CSK (By similarity). Interacts with LRRK1 (PubMed:23526378).
messages: Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN, CSK or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T-cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK.
messages: Phosphorylated at Ser-364 by PKA, leading to increased activity. Autophosphorylated.
messages: The architecture of this protein is similar to that of Src-family kinases (SFKs) with one N-terminal SH3 domain, one SH2 domain, and a C-terminal kinase domain.

9606:RNF185
gene id: 9606:RNF185
uniprot id: Q96GF1
names: Domain
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating 'Lys-63'-linked polyubiquitination of BNIP1 (PubMed:21931693). Acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation (PubMed:27485036). Protects cells from ER stress-induced apoptosis (PubMed:27485036). Responsible for the cotranslational ubiquitination and degradation of CFTR in the ERAD pathway (PubMed:24019521). Also acts as a regulator of the innate antiviral response by catalyzing 'Lys-27'-linked polyubiquitination of CGAS at 'Lys-173' and 'Lys-384', thereby promoting CGAS cyclic GMP-AMP synthase activity (PubMed:28273161). Preferentially associates with the E2 enzymes UBE2J1 and UBE2J2 (PubMed:24019521).
messages: Endoplasmic reticulum membrane
messages: Interacts with ATG5 and BNIP1.
messages: Mitochondrion outer membrane
messages: The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity.
messages: Ubiquitously expressed.
messages: Up-regulated by unfolded protein response (UPR) and endoplasmic reticulum (ER) stress triggered by thapsigargin or tunicamycin.

9606:BMP2K
gene id: 9606:BMP2K
uniprot id: Q9NSY1
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Autophosphorylated.
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: May be involved in osteoblast differentiation.
messages: Nucleus

9606:HNRNPK
gene id: 9606:HNRNPK
uniprot id: B4DUQ1
uniprot id: P61978
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HCV core protein (PubMed:9651361).
messages: Arg-296 and Arg-299 are dimethylated, probably to asymmetric dimethylarginine.
messages: By DNA damage, including ionizing radiations and phleomycin treatment or UV irradiation. This induction requires ATM kinase activity (ionizing radiations and phleomycin) or ATR activity (UV irradiation). Up-regulation is due to protein stabilization. Constitutive protein levels are controlled by MDM2-mediated ubiquitination and degradation via the proteasome pathway.
messages: Cytoplasm
messages: Interacts with RBM42 and ZIK1 (By similarity). Interacts with BRDT (By similarity). Identified in the spliceosome C complex (PubMed:11991638). Interacts with ANKRD28 (PubMed:16564677). Interacts with ASFV p30 protein (PubMed:18775702). Interacts with DDX1 (PubMed:12183465). Interacts with MDM2; this interaction leads to ubiquitination and proteasomal degradation (PubMed:16360036). Interacts with p53/TP53 (PubMed:16360036). Interacts with IVNS1ABP (PubMed:23825951). Interacts with PPIA/CYPA (PubMed:25678563). Part of a transcription inhibitory ribonucleoprotein complex composed at least of the circular RNA circZNF827, ZNF827 and HNRNPL (PubMed:33174841).
messages: O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner.
messages: One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction (By similarity). As far as transcription repression is concerned, acts by interacting with long intergenic RNA p21 (lincRNA-p21), a non-coding RNA induced by p53/TP53. This interaction is necessary for the induction of apoptosis, but not cell cycle arrest. As part of a ribonucleoprotein complex composed at least of ZNF827, HNRNPL and the circular RNA circZNF827 that nucleates the complex on chromatin, may negatively regulate the transcription of genes involved in neuronal differentiation (PubMed:33174841).
messages: Sumoylated by CBX4. Sumoylation is increased upon DNA damage, such as that produced by doxorubicin, etoposide, UV light and camptothecin, due to enhanced CBX4 phosphorylation by HIPK2 under these conditions.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by MDM2. Doxorubicin treatment does not affect monoubiquitination, but slightly decreases HNRNPK poly-ubiquitination.
messages: nucleoplasm
messages: podosome

9606:CENPO
gene id: 9606:CENPO
uniprot id: Q9BU64
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CENP-O/MCM21 family.
messages: Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Modulates the kinetochore-bound levels of NDC80 complex.
messages: Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU.
messages: Nucleus
messages: centromere
messages: kinetochore

9606:WASHC3
gene id: 9606:WASHC3
uniprot id: F5GWI9
uniprot id: F5GZ97
uniprot id: Q9Y3C0
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting.
messages: Belongs to the CCDC53 family.
messages: Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. The WASH core complex associates via WASHC2 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex.
messages: Early endosome
messages: One study reported a nucleation-promoting factor (NPF) activity towards the Arp2/3 complex using partially purified samples of the WASH complex (PubMed:19922875). In another study, the in vitro reconstituted and purified recombinant WASH core complex, consisting of WASHC3, WASHC4, WASHC5, WASHC1 and the N-terminal residues 1-356 of WASHC2, did not show activity toward Arp2/3 complex (PubMed:20498093).

9606:KLK15
gene id: 9606:KLK15
uniprot id: Q9H2R5
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S1 family. Kallikrein subfamily.
messages: Highest expression in the thyroid gland. Also expressed in the prostate, salivary, and adrenal glands and in the colon testis and kidney.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Protease whose physiological substrate is not yet known.
messages: Secreted

9606:NOP56
gene id: 9606:NOP56
uniprot id: O00567
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NOP5/NOP56 family.
messages: Cytoplasm
messages: Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs.
messages: Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with TCOF1 in an RNA-independent manner. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles; the core proteins SNU13, NOP56, NOP58 and FBL assemble stepwise onto the snoRNA. Interacts NOP1 and NOP58. Interacts with NUFIP1, RUVBL1 and RUVBL2; RUVBL1:RUVBL2 seem to bridge the association of NOP56 with NUFIP1.
messages: The disease is caused by variants affecting the gene represented in this entry. Caused by large hexanucleotide CGCCTG repeat expansions within intron 1. These expansions induce RNA foci and sequester the RNA-binding protein SRSF2. In addition, the transcription of MIR1292, a microRNA gene located just 19 bp 3' of the GGCCTG repeat, is significantly decreased.
messages: nucleolus
messages: nucleoplasm

9606:FBXL22
gene id: 9606:FBXL22
uniprot id: Q6P050
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Directly interacts with SKP1 and CUL1.
messages: Enriched in cardiac muscle.
messages: It is uncertain whether Met-1 or Met-7 is the initiator.
messages: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC).
messages: Z line

9606:TMCC1
gene id: 9606:TMCC1
uniprot id: E9PC87
uniprot id: O94876
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TEX28 family.
messages: Endoplasmic reticulum membrane
messages: Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission (PubMed:30220460). Localizes to contact sites between the endoplasmic reticulum and endosomes and acts by promoting recruitment of the endoplasmic reticulum to endosome tubules for fission (PubMed:30220460). Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane (PubMed:30220460).
messages: May form homodimers and heterodimers with TMCC2 or TMCC3 via the coiled-coil domains (PubMed:24454821). Interacts with ribosomal proteins RPL4 and RPS6 (PubMed:24454821).

9606:ZSCAN18
gene id: 9606:ZSCAN18
uniprot id: A0A024R4T0
uniprot id: Q8TBC5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:ICE1
gene id: 9606:ICE1
uniprot id: Q9Y2F5
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Aberrant splicing.
messages: Belongs to the ICE1 family.
messages: Cajal body
messages: Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies (PubMed:23932780).
messages: Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts (via N-terminus domain) with ELL. Interacts (via C-terminus domain) with ICE2 and ZC3H8.
messages: Nucleus
messages: The N-termimus domain is necessary and sufficient for its targeting to subnuclear cajal and histone locus bodies.

9606:BAAT
gene id: 9606:BAAT
uniprot id: Q14032
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the C/M/P thioester hydrolase family.
messages: Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12810727, PubMed:8034703, PubMed:2037576, PubMed:12239217). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727). This conjugation (or amidation) plays several important biological roles in that it promotes the secretion of BAs and cholesterol into bile and increases the detergent properties of BAs in the intestine, which facilitates lipid and vitamin absorption (PubMed:12810727). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids (PubMed:12810727, PubMed:8034703, PubMed:12239217). In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs (PubMed:12810727).
messages: Expressed in the gallbladder mucosa and pancreas (PubMed:2037576, PubMed:12810727). Expressed in hepatocytes (at protein level) (PubMed:2037576, PubMed:12810727, PubMed:23415802).
messages: Monomer.
messages: Peroxisome
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytosol

9606:BCL3
gene id: 9606:BCL3
uniprot id: P20749
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving BCL3 may be a cause of B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(14;19)(q32;q13.1) with immunoglobulin gene regions.
messages: Activated by phosphorylation.
messages: Component of a complex consisting of the NF-kappa-B p52-p52 homodimer and BCL3. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Interacts with N4BP2, COPS5 and PIR. Interacts with CYLD (By similarity).
messages: Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity).
messages: Cytoplasm
messages: It is uncertain whether Met-1 or Met-9 is the initiator.
messages: Nucleus
messages: Polyubiquitinated. Ubiquitination via 'Lys-63'-linked ubiquitin chains is required for nuclear accumulation. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains. Deubiquitination by CYLD prevents nuclear accumulation (By similarity).
messages: perinuclear region

9606:RFPL4A
gene id: 9606:RFPL4A
uniprot id: A6NLU0
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts with PSMB1, UBE2A and CCNB1.
messages: Nucleus

9606:OR5B3
gene id: 9606:OR5B3
uniprot id: A0A126GVH3
uniprot id: Q8NH48
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:RAD21L1
gene id: 9606:RAD21L1
uniprot id: Q9H4I0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the rad21 family.
messages: Chromosome
messages: Component of some meiotic cohesin complex composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain, RAD21L which link them, and STAG3.
messages: Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination between homologous chromosomes during prophase I (By similarity).
messages: Nucleus

9606:LMCD1
gene id: 9606:LMCD1
uniprot id: Q9NZU5
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in the heart (at protein level). Expressed in many tissues with highest abundance in skeletal muscle.
messages: Interacts with GATA1 and GATA4 (By similarity). Interacts with beta-dystroglycan. Interacts with GATA6.
messages: Nucleus
messages: The LIM zinc-binding domains and the Cys-rich region mediate interaction with GATA6.
messages: Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6-mediated trans activation of lung- and cardiac tissue-specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway.

9606:PTX3
gene id: 9606:PTX3
uniprot id: P26022
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with SARS coronavirus-2/SARS-CoV-2 Nucleoprotein and Spike protein homotrimer.
messages: By IL1B/interleukin-1 beta and TNF.
messages: Glycosylated.
messages: Homooctamer; disulfide-linked (PubMed:18223257). Binds to C1q (By similarity).
messages: Plays a role in the regulation of innate resistance to pathogens, inflammatory reactions, possibly clearance of self-components and female fertility.
messages: Secreted

9606:RIOK3
gene id: 9606:RIOK3
uniprot id: B0YJ89
uniprot id: B4E1Q4
uniprot id: O14730
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylated (in vitro).
messages: Belongs to the protein kinase superfamily. RIO-type Ser/Thr kinase family.
messages: Cytoplasm
messages: Interacts with CASP10 (PubMed:19557502). Interacts with IRF3; RIOK3 probably mediates the interaction of TBK1 with IRF3 (PubMed:24807708). Associated with 40S pre-ribosomal particles.
messages: Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses.
messages: Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses. May act as an adapter protein essential for the recruitment of TBK1 to IRF3 (PubMed:24807708). Phosphorylates IFIH1 on 'Ser-828' interfering with IFIH1 filament assembly on long dsRNA and resulting in attenuated IFIH1-signaling (PubMed:25865883). Can inhibit CASP10 isoform 7-mediated activation of the NF-kappaB signaling pathway (PubMed:19557502). May play a role in the biogenesis of the 40S ribosomal subunit. Involved in the processing of 21S pre-rRNA to the mature 18S rRNA (PubMed:22418843).
messages: Widely expressed.

9606:FPR3
gene id: 9606:FPR3
uniprot id: P25089
uniprot id: Q6L5J4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Detected in various tissues with highest expression in lung.
messages: Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Acts as a receptor for humanin (PubMed:15465011).

9606:RPN1
gene id: 9606:RPN1
uniprot id: P04843
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the OST1 family.
messages: Component of the oligosaccharyltransferase (OST) complex (PubMed:31831667). OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits (PubMed:23606741, PubMed:25135935, PubMed:31831667). STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Interacts with TMEM35A/NACHO (By similarity).
messages: Endoplasmic reticulum
messages: Endoplasmic reticulum membrane
messages: Expressed in all tissues tested.
messages: Melanosome
messages: Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity.
messages: Ufmylated by UFL1 in response to endoplasmic reticulum stress, promoting reticulophagy of endoplasmic reticulum sheets.

9606:DEFB124
gene id: 9606:DEFB124
uniprot id: Q8NES8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the beta-defensin family.
messages: Has antibacterial activity.
messages: Secreted

9606:ESD
gene id: 9606:ESD
uniprot id: A0A140VJJ2
uniprot id: P10768
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the esterase D family.
messages: Cytoplasm
messages: Cytoplasmic vesicle
messages: Homodimer.
messages: Serine hydrolase involved in the detoxification of formaldehyde.
messages: There are two major electrophoretic isotypes. The sequence of the ESD*1 variant is shown (PubMed:12721789, PubMed:7907313).

9606:SEC16A
gene id: 9606:SEC16A
uniprot id: A0A8I5KPG1
uniprot id: F1T0I1
uniprot id: O15027
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:17005010, PubMed:17428803, PubMed:21768384, PubMed:22355596). Mediates the recruitment of MIA3/TANGO to ERES (PubMed:28442536). Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane (PubMed:28067262). Positively regulates the protein stability of E3 ubiquitin-protein ligases RNF152 and RNF183 and the ER localization of RNF183 (PubMed:29300766). Acts as a RAB10 effector in the regulation of insulin-induced SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the cell membrane in adipocytes (By similarity).
messages: Belongs to the SEC16 family.
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Membrane
messages: Microsome membrane
messages: Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus.
messages: SEC16A and SEC16B are each present in multiple copies in a heteromeric complex (PubMed:17192411, PubMed:22355596). Interacts with SEC23A (PubMed:17192411, PubMed:17428803). Interacts with RNF183 and RNF152 (PubMed:29300766). Interacts with LRRK2 (via ROC domain) (PubMed:25201882). Interacts with SEC13 (PubMed:25201882, PubMed:19638414, PubMed:17428803). Interacts with RAB10 (By similarity). Interacts with MIA3 (PubMed:28442536). Interacts with GORASP2 in response to ER stress (PubMed:28067262).
messages: SEC16A and SEC16B are each present in multiple copies in a heteromeric complex.
messages: Ubiquitous. Expressed at higher levels in the pancreas.
messages: cytosol
messages: perinuclear region

9606:CNPY1
gene id: 9606:CNPY1
uniprot id: Q3B7I2
names: Similarity
messages: Belongs to the canopy family.

9606:GPR32
gene id: 9606:GPR32
uniprot id: H9NIL6
uniprot id: O75388
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Orphan receptor.

9606:CETN1
gene id: 9606:CETN1
uniprot id: A0A140VJG3
uniprot id: Q12798
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the centrin family.
messages: Binds two moles of calcium per mole of protein.
messages: Monomer (By similarity). Interacts with PIFO (PubMed:20643351).
messages: Plays a fundamental role in microtubule-organizing center structure and function (PubMed:8175926). Plays a role in sperm cilia formation (By similarity).
messages: centrosome
messages: cilium

9606:ITGA11
gene id: 9606:ITGA11
uniprot id: Q9UKX5
names: Developmental Stage
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: According to PubMed:10464311, highest levels of expression in uterus and heart, intermediate levels in skeletal muscle and intermediate to low levels in pancreas, kidney and placenta. According to PubMed:10486209, also found in brain, colon, lung, small intestine, stomach, testis, salivary glands, thyroid glands and prostate. Very low levels in peripheral blood lymphocytes, fetal brain and fetal liver.
messages: Belongs to the integrin alpha chain family.
messages: Heterodimer of an alpha and a beta subunit. Alpha-11 associates with beta-1. Interacts with RAB21.
messages: Integrin alpha-11/beta-1 is a receptor for collagen.
messages: Membrane
messages: Strongly up-regulated in differentiating fetal muscle cells (in vitro).
messages: The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.

9606:H4C1
gene id: 9606:H4C1
uniprot id: B2R4R0
uniprot id: P62805
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation at Lys-6 (H4K5ac), Lys-9 (H4K8ac), Lys-13 (H4K12ac) and Lys-17 (H4K16ac) occurs in coding regions of the genome but not in heterochromatin.
messages: Belongs to the histone H4 family.
messages: Butyrylation of histones marks active promoters and competes with histone acetylation.
messages: Chromosomal aberrations involving HISTONE H4 is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;6)(q27;p21), with BCL6.
messages: Chromosome
messages: Citrullination at Arg-4 (H4R3ci) by PADI4 impairs methylation.
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Glutarylation at Lys-92 (H4K91glu) destabilizes nucleosomes by promoting dissociation of the H2A-H2B dimers from nucleosomes.
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Monomethylated, dimethylated or trimethylated at Lys-21 (H4K20me1, H4K20me2, H4K20me3) (PubMed:12086618, PubMed:15964846, PubMed:17967882). Monomethylation is performed by KMT5A/SET8 (PubMed:15964846). Dimethylation and trimethylation is performed by KMT5B and KMT5C and induces gene silencing (By similarity). Monomethylated at Lys-13 (H4K12me1) by N6AMT1; H4K12me1 modification is present at the promoters of numerous genes encoding cell cycle regulators (PubMed:31061526).
messages: Monomethylation and asymmetric dimethylation at Arg-4 (H4R3me1 and H4R3me2a, respectively) by PRMT1 favors acetylation at Lys-9 (H4K8ac) and Lys-13 (H4K12ac). Demethylation is performed by JMJD6. Symmetric dimethylation on Arg-4 (H4R3me2s) by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
messages: Nucleus
messages: Phosphorylated by PAK2 at Ser-48 (H4S47ph). This phosphorylation increases the association of H3.3-H4 with the histone chaperone HIRA, thus promoting nucleosome assembly of H3.3-H4 and inhibiting nucleosome assembly of H3.1-H4.
messages: Sumoylated, which is associated with transcriptional repression.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED1 is caused by variants in H4C3.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED2 is caused by variants in H4C11.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED3 is caused by variants in H4C5.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED4 is caused by variants in H4C9.
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA (By similarity). Found in a co-chaperone complex with DNJC9, MCM2 and histone H3.3-H4 dimers (PubMed:33857403). Within the complex, interacts with DNJC9 (via C-terminus); the interaction is direct (PubMed:33857403).
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
messages: Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins. Monoubiquitinated at Lys-92 of histone H4 (H4K91ub1) in response to DNA damage. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 Lys-21 methylation (H4K20me).
messages: Ufmylated; monofmylated by UFL1 at Lys-32 (H4K31Ufm1) in response to DNA damage.

9606:ZCWPW2
gene id: 9606:ZCWPW2
uniprot id: Q504Y3
names: Domain
names: Function
messages: Histone methylation reader which binds to non-methylated (H3K4me0), monomethylated (H3K4me1), dimethylated (H3K4me2) and trimethylated (H3K4me3) 'Lys-4' on histone H3 (PubMed:26933034). The order of binding preference is H3K4me3 > H3K4me2 > H3K4me1 > H3K4me0 (PubMed:26933034).
messages: The CW-TYPE zinc finger mediates its binding to trimethylated histone H3K4me3.

9606:NDUFAF2
gene id: 9606:NDUFAF2
uniprot id: A0A0S2Z5U1
uniprot id: Q8N183
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371).
messages: Belongs to the complex I NDUFA12 subunit family.
messages: By MYC. Direct transcriptional target of MYC.
messages: Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:STK32B
gene id: 9606:STK32B
uniprot id: B2R9M8
uniprot id: Q9NY57
names: Miscellaneous
names: Similarity
messages: Belongs to the protein kinase superfamily.
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: It is unsure whether Met-1 or Met-3 is the initiator.

9606:LRRC26
gene id: 9606:LRRC26
uniprot id: Q2I0M4
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Required for the conversion of BK alpha channels from a high-voltage to a low-voltage activated channel type in non-excitable cells. These are characterized by negative membrane voltages and constant low levels of calcium.
messages: Cell membrane
messages: Interacts with KCNMA1.
messages: Isoform 1 is expressed highly in normal prostate and salivary gland, very weakly in colon, pancreas, and intestine, and not at all in other tissues. Isoform 1 is expressed highly in many cancer cell lines and in breast cancer, pancreatic cancer and colon cancer. Isoform 2 is expressed in cancer cell lines.
messages: The transmembrane domain is necessary for interaction with KCNMA1.
messages: Translation initiates from a UGC codon. It is unsure whether the initiator amino acid is a modified cysteine or a methionine. Could also be the result of a proteolytic cleavage from a longer precursor.
messages: cytoskeleton

9606:WFDC9
gene id: 9606:WFDC9
uniprot id: Q8NEX5
names: Miscellaneous
names: Subcellular Location Annotation
messages: Although this protein was isolated in a region containing several WAP proteins and was defined as a WAP protein, it does not contain a classical WAP domain.
messages: Secreted

9606:OR6C76
gene id: 9606:OR6C76
uniprot id: A0A126GW16
uniprot id: A6NM76
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:OR9A4
gene id: 9606:OR9A4
uniprot id: A0A126GVB1
uniprot id: Q8NGU2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:IREB2
gene id: 9606:IREB2
uniprot id: D3DW85
uniprot id: P48200
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the aconitase/IPM isomerase family.
messages: Binds 1 [4Fe-4S] cluster per subunit. [4Fe-4S]-binding affects RNA-binding activity, thereby inhibiting activity of the protein.
messages: Cytoplasm
messages: Interacts with RBCK1 isoform 1 and isoform 2 only in iron-rich conditions (PubMed:12629548). Interacts (when associated with the 4Fe-4S) with FBXL5 (PubMed:19762596, PubMed:19762597). Interacts with CIAO1 and CIAO2A (PubMed:23891004).
messages: RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'-UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated and degraded by the proteasome in presence of high level of iron and oxygen. Ubiquitinated by a SCF complex containing FBXL5. Upon iron and oxygen depletion FBXL5 is degraded, preventing ubiquitination and allowing its RNA-binding activity.

9606:PDSS2
gene id: 9606:PDSS2
uniprot id: B4DKU5
uniprot id: B4DWD3
uniprot id: Q86YH6
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the FPP/GGPP synthase family.
messages: Heterotetramer composed of 2 PDSS1/DPS1 and 2 PDSS2/DLP1 subunits.
messages: Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the side chain of ubiquinone (PubMed:16262699). Supplies nona and decaprenyl diphosphate, the precursors for the side chain of the isoprenoid quinones ubiquinone-9 (Q9) and ubiquinone-10 (Q10) respectively (PubMed:16262699). The enzyme adds isopentenyl diphosphate molecules sequentially to farnesyl diphosphate with trans stereochemistry (PubMed:16262699). May play a role during cerebellar development (By similarity). May regulate mitochondrial respiratory chain function (By similarity).
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SAT1
gene id: 9606:SAT1
uniprot id: A0A384NQ10
uniprot id: P21673
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the acetyltransferase family.
messages: Enzyme which catalyzes the acetylation of polyamines (PubMed:15283699, PubMed:16455797, PubMed:17516632). Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine (PubMed:17516632). This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines (PubMed:16455797). Also involved in the regulation of polyamine transport out of cells (PubMed:16455797). Also acts on 1,3-diaminopropane and 1,5-diaminopentane (PubMed:16455797, PubMed:17516632).
messages: Homodimer.
messages: Overexpression of SAT1 and the consequent putrescine accumulation might play a role in the pathogenesis of keratosis follicularis spinulosa decalvans.
messages: cytosol

9606:PNCK
gene id: 9606:PNCK
uniprot id: Q6P2M8
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Activated by Ca(2+)/calmodulin.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
messages: Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates CREB1 and SYN1/synapsin I. Phosphorylates and activates CAMK1 (By similarity).
messages: Cytoplasm
messages: Nucleus
messages: Phosphorylated by CAMKK1.

9606:POU4F1
gene id: 9606:POU4F1
uniprot id: Q01851
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have antiapoptotic effect on neuronal cells.
messages: Belongs to the POU transcription factor family. Class-4 subfamily.
messages: Cytoplasm
messages: Expressed in the brain and the retina. Present in the developing brain, spinal cord and eye.
messages: Expression peaks early in embryogenesis (day 13.5) and is undetectable 14 days after birth.
messages: Interacts (via N-terminus) with RIT2; the interaction controls POU4F1 transactivation activity on some neuronal target genes. Isoform 1 interacts with POU4F2; this interaction inhibits both POU4F1 DNA-binding and transcriptional activities. Isoform 1 interacts (C-terminus) with ESR1 (via DNA-binding domain); this interaction decreases the estrogen receptor ESR1 transcriptional activity in a DNA- and ligand 17-beta-estradiol-independent manner.
messages: Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protects neuronal cells from apoptosis (via the N-terminal domain). Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. Stimulates the binding affinity of the nuclear estrogene receptor ESR1 to DNA estrogen response element (ERE), and hence modulates ESR1-induced transcriptional activity. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site.
messages: Nucleus
messages: The C-terminal domain is able to act as both DNA-binding domain and a transcriptional activator. The N-terminal domain is also required for transactivation activity on some target genes acting as a discrete activation domain. Neurite outgrowth and expression of genes required for synapse formation are primarily dependent on the C-terminal domain, however the N-terminal domain is required for maximal induction.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:KIRREL2
gene id: 9606:KIRREL2
uniprot id: Q6UWL6
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant splicing.
messages: Belongs to the immunoglobulin superfamily.
messages: Cell membrane
messages: Highly expressed in beta-cells of the pancreatic islets.
messages: Homodimer. Interacts with NPHS2/podocin (via the C-terminus). Interacts with NPHS1 (via the Ig-like domains). Interacts with FYN.
messages: May regulate basal insulin secretion.
messages: N-glycosylated.
messages: The extracellular domain is cleaved leading to the generation of a soluble fragment and a membrane-bound C-terminal fragment, which is further cleaved by gamma-secretase.

9606:TMOD2
gene id: 9606:TMOD2
uniprot id: Q9NZR1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the tropomodulin family.
messages: Binds to the N-terminus of tropomyosin and to actin.
messages: Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity).
messages: Neuronal-tissue specific.
messages: cytoskeleton

9606:C16orf82
gene id: 9606:C16orf82
uniprot id: Q7Z2V1
names: Tissue Specificity
messages: Preferentially expressed in teratocarcinoma rather than in normal testis.

9606:LRRC75B
gene id: 9606:LRRC75B
uniprot id: Q2VPJ9
names: Similarity
messages: Belongs to the LRRC75 family.

9606:TTC30A
gene id: 9606:TTC30A
uniprot id: Q86WT1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TTC30/dfy-1/fleer family.
messages: Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip.
messages: cilium

9606:DNAJB5
gene id: 9606:DNAJB5
uniprot id: O75953
names: Induction
names: Sequence Caution
messages: Expressed under normal conditions, its expression can further be increased after various stress treatments.
messages: Unlikely isoform. Aberrant splice sites.

9606:LOC102723475
gene id: 9606:LOC102723475
uniprot id: A0A087WTH5
names: Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the potassium channel KCNE family.
messages: Membrane
messages: Product of a dubious gene prediction. The corresponding gene is on a region of chromosome 21 that is known to be an artifactual duplication of another chromosome 21 region in the GRCh38 assembly. This entry may represent an artifactual copy of AC P15382.

9606:ABCA13
gene id: 9606:ABCA13
uniprot id: Q86UQ4
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ABC transporter superfamily.
messages: Cytoplasmic vesicle membrane
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: May mediate the cholesterol and gangliosides transport from the plasma membrane to intracellular vesicles in an ATP hydrolysis dependent manner, thus playing a role in their internalization by endocytic retrograde transport and may also participate in the endocytosis of synaptic vesicle in cortical neurons.
messages: Significantly expressed in the bone marrow, trachea, testis, thyroid and lung as well as in skin fibroblasts.

9606:KRTAP12-3
gene id: 9606:KRTAP12-3
uniprot id: P60328
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the KRTAP type 12 family.
messages: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
messages: Interacts with hair keratins.
messages: Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.

9606:DNAAF2
gene id: 9606:DNAAF2
uniprot id: Q9NVR5
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the PIH1 family. Kintoun subfamily.
messages: Cytoplasm
messages: Dynein axonemal particle
messages: Interacts with CFAP300 (PubMed:29727693). Interacts with DNAAF4 (PubMed:23872636). Interacts with DNAAF6/PIH1D3 (PubMed:28041644). Interacts with DNAI2 and HSPA1A (By similarity).
messages: May be due to exon skipping.
messages: Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SETD2
gene id: 9606:SETD2
uniprot id: Q9BYW2
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression.
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
messages: Chromosome
messages: Contaminating sequence. Potential poly-A sequence.
messages: Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565…
messages: May be automethylated.
messages: Nucleus
messages: Specifically inhibited by sinefungin derivatives. N-propyl sinefungin (Pr-SNF) interacts preferentially with SETD2.
messages: Specifically interacts with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A): binds to CTD heptad repeats doubly phosphorylated on 'Ser-2' and 'Ser-5' of each heptad (PubMed:16118227, PubMed:16314571). Interacts with HTT (PubMed:11461154, PubMed:9700202, PubMed:10958656). Interacts with IWS1 (PubMed:19141475). Interacts with p53/TP53; leading to regulate p53/TP53 target genes (PubMed:18585004). Component of a complex with HNRNPL (PubMed:19332550). Interacts with TUBA1A; the interaction is independent on alpha-tubulin acetylation on 'Lys-40' (PubMed:27518565). Interacts with STAT1 (PubMed:28753426).
messages: The catalytic SET domain binds histone H3 (PubMed:27474439, PubMed:28256625). It is also able to bind oncogenic histone H3 K36M/I found in a number of cancer types, in which histone H3 'Lys-36' is replaced by a Met or an Ile residue. When binding the oncogenic variant histone H3 K36M/I, the SET domain undergoes dramatic conformational change to accommodate the histone H3 peptide, leading to sequester and inhibit SETD2 activity and block global H3K36 methylation (PubMed:27474439, PubMed:28256625).
messages: The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry. Defects of SETD2 are associated with loss of DNA methylation at non-promoter regions (PubMed:23792563). SETD2 defects lead to aberrant and reduced nucleosome compaction and chromatin association of key replication proteins, such as MCM7 and DNA polymerase delta, leading to hinder replication fork progression and prevent loading of RAD51 homologous recombination repair factor at DNA breaks (PubMed:25728682).
messages: The low charge region mediates the transcriptional activation activity.
messages: Ubiquitously expressed.

9606:BRSK1
gene id: 9606:BRSK1
uniprot id: Q8TDC3
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activated by phosphorylation on Thr-189 by STK11/LKB1.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
messages: Cytoplasm
messages: Nucleus
messages: Phosphorylated at Thr-189 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Not phosphorylated at Thr-189 by CaMKK2. In contrast, it is phosphorylated and activated by CaMKK1. May be inactivated via dephosphorylation of Thr-189 by PP2C.
messages: Presynaptic active zone
messages: Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. In neurons, localizes to synaptic vesicles and plays a role in neurotransmitter release, possibly by phosphorylating RIMS1. Also acts as a positive regulator of centrosome duplication by mediating phosphorylation of gamma-tubulin (TUBG1 and TUBG2) at 'Ser-131', leading to translocation of gamma-tubulin and its associated proteins to the centrosome. Involved in the UV-induced DNA damage checkpoint response, probably by inhibiting CDK1 activity through phosphorylation and activation of WEE1, and inhibition of CDC25B and CDC25C.
messages: Synapse
messages: Widely expressed, with highest levels in brain and testis. Protein levels remain constant throughout the cell cycle.
messages: centrosome
messages: synaptic vesicle

9606:SYT6
gene id: 9606:SYT6
uniprot id: Q5T7P8
names: Cofactor
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the synaptotagmin family.
messages: Binds 3 Ca(2+) ions per subunit. The ions are bound to the C2 domains.
messages: Cell membrane
messages: Isoform 1: Homodimer; disulfide-linked via the cysteine motif. Isoform 1: Can also form heterodimers with SYT3, SYT7, SYT9 and SYT10. Isoform 1: Interacts with STX1A, STX1B and STX2; the interaction is Ca(2+)-dependent. Isoform 2: Is not able to form homodimer and heterodimers.
messages: May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. May mediate Ca(2+)-regulation of exocytosis in acrosomal reaction in sperm (By similarity).
messages: Membrane
messages: The cysteine motif mediates homo- or heterodimer formation via formation of disulfide bonds.
messages: cytosol
messages: synaptic vesicle membrane

9606:FRMD8
gene id: 9606:FRMD8
uniprot id: Q9BZ67
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Interacts with iRhom1/RHBDF1 and iRhom2/RHBDF2 (via cytoplasmic N-termini); this interaction leads to mutual protein stabilization (PubMed:29897333). Interacts with ADAM17; this interaction is indirect and mediated by iRhom proteins (PubMed:29897333, PubMed:29897336). Interacts with LRP6; this interaction affects LRP6-binding to AXIN1 (PubMed:19572019).
messages: Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface (PubMed:29897333, PubMed:29897336). Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6 (PubMed:19572019).
messages: Widely expressed, with high expression in heart and spleen.
messages: cytosol

9606:SI
gene id: 9606:SI
uniprot id: P14410
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Belongs to the glycosyl hydrolase 31 family.
messages: Expressed in the poorly differentiated crypt cells of the small intestine as well as in the mature villous cells. Expressed at very low levels in the colon.
messages: Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides.
messages: Sulfated.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The precursor is proteolytically cleaved when exposed to pancreatic proteases in the intestinal lumen.
messages: The resulting sucrase and isomaltase subunits stay associated with one another in a complex by non-covalent linkages.
messages: There is a high degree of homology between the isomaltase and sucrase portions (41% of amino acid identity) indicating that this protein is evolved by partial gene duplication.

9606:SDAD1
gene id: 9606:SDAD1
uniprot id: B4DT66
uniprot id: E7EW05
uniprot id: Q9NVU7
names: Function
names: Miscellaneous
names: Polymorphism
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SDA1 family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: DAZL and PUM2 bind its 3'-UTR mRNA, suggesting that these proteins may regulate its translation.
messages: Highly expressed in testis, kidney, spleen, brain and fetal tissues. Also expressed at lower level in heart, lung, liver, small intestine, ovary, uterus, mammary gland and placenta.
messages: Required for 60S pre-ribosomal subunits export to the cytoplasm.
messages: Variations in SDAD1 may be a cause of susceptibility to seasonal allergic rhinitis (SAR). SAR is a common allergic disorder characterized by episodes of sneezing, rhinorrhea, and swelling of the nasal mucosa.
messages: nucleolus

9606:TRIM58
gene id: 9606:TRIM58
uniprot id: Q8NG06
names: Domain
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the TRIM/RBCC family.
messages: E3 ubiquitin ligase induced during late erythropoiesis. Directly binds and ubiquitinates the intermediate chain of the microtubule motor dynein (DYNC1LI1/DYNC1LI2), stimulating the degradation of the dynein holoprotein complex. May participate in the erythroblast enucleation process through regulation of nuclear polarization.
messages: Expressed in erythroblasts.
messages: The RING finger is required for ubiquitin ligase activity.

9606:BRAF
gene id: 9606:BRAF
uniprot id: P15056
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation.
messages: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Brain and testis.
messages: Cell membrane
messages: Cytoplasm
messages: Defects in BRAF are found in a wide range of cancers.
messages: In quiescent cells, maintained in an inactive state via an intramolecular interaction between the protein kinase and N-terminal domains. Following mitogen-mediated cell activation, binds via its RGB domain to active HRAS (GTP-bound) which releases the inhibitory intramolecular interaction between the two domains. This allows the MAP2K1-mediated dimerization of KSR1 or KSR2, and BRAF which activates BRAF.
messages: Methylation at Arg-671 decreases stability and kinase activity.
messages: Monomer. Homodimer. Heterodimerizes with RAF1, and the heterodimer possesses a highly increased kinase activity compared to the respective homodimers or monomers. Heterodimerization is mitogen-regulated and enhanced by 14-3-3 proteins. MAPK1/ERK2 activation can induce a negative feedback that promotes the dissociation of the heterodimer by phosphorylating BRAF at Thr-753. Heterodimerizes (via N-terminus) with KSR1 (via N-terminus) or KSR2 (via N-terminus) in a MAP2K1-dependent manner (PubMed:29433126). Interacts with MAP2K1 and MAP2K2 (PubMed:29433126). Found in a complex with at least BRAF, HRAS, MAP2K1, MAPK3 and RGS14. Interacts with RIT1. Interacts (via N-terminus) with RGS14 (via RBD domains); the interaction mediates the formation of a ternary complex with RAF1, a ternary complex inhibited by GNAI1 (By similarity). Interacts with DGKH (PubMed:19710016). Interacts with PRMT5 (PubMed:21917714). Interacts with KSR2 (PubMed:21441910). Interacts with AKAP13, MAP2K1 and KSR1. Identified in a complex with AKAP13, MAP2K1 and KSR1 (PubMed:21102438). Interacts with FNIP1 and FNIP2 (PubMed:27353360).
messages: Nucleus
messages: Phosphorylation at Ser-365 by SGK1 inhibits its activity.
messages: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry is involved in disease pathogenesis.
messages: Ubiquitinated by RNF149; which leads to proteasomal degradation. Polyubiquitinated at Lys-578 in response to EGF.

9606:SLCO1B3
gene id: 9606:SLCO1B3
uniprot id: B3KP78
uniprot id: Q9NPD5
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A conserved histidine residue in the third TMD (His-115) may play an essential role in the pH sensitivity of SLCO1B3/OATP1B3-mediated substrate transport.
messages: Basolateral cell membrane
messages: Belongs to the organo anion transporter (TC 2.A.60) family.
messages: Cell membrane
messages: Highly expressed in liver, in particular at the basolateral membrane of hepatocytes near the central vein (PubMed:10779507). Expressed in liver (at protein level) (PubMed:15159445). Expressed in the placenta (PubMed:12409283). Not detected in other tissues (PubMed:10779507).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Mediates the Na(+)-independent uptake of organic anions (PubMed:15159445, PubMed:17412826, PubMed:10779507). Shows broad substrate specificity, can transport both organic anions such as bile acid taurocholate (cholyltaurine) and conjugated steroids (17-beta-glucuronosyl estradiol, dehydroepiandrosterone sulfate (DHEAS), and estrone 3-sulfate), as well as eicosanoid leukotriene C4, prostaglandin E2 and L-thyroxine (T4) (PubMed:15159445, PubMed:17412826, PubMed:10779507, PubMed:12568656, PubMed:11159893, PubMed:19129463). Hydrogencarbonate/HCO3(-) acts as the probable counteranion that exchanges for organic anions (PubMed:19129463). Shows a pH-sensitive substrate specificity towards sulfated steroids, taurocholate and T4 which may be ascribed to the protonation state of the binding site and leads to a stimulation of substrate transport in an acidic microenvironment (PubMed:19129463). Involved in the clearance of bile acids and organic anions from the liver (PubMed:22232210). Can take up bilirubin glucuronides from plasma into the liver, contributing to the detoxification-enhancing liver-blood shuttling loop (PubMed:22232210). Transports coproporphyrin I and III, by-products of heme synthesis, and may be involved in their hepatic disposition (PubMed:26383540). Can transport HMG-CoA reductase inhibitors (also known as statins) such as pitavastatin, a clinically important class of hypolipidemic drugs (PubMed:15159445). May play an important role in plasma and tissue distribution of the structurally diverse chemotherapeutic drugs methotrexate and paclitaxel (PubMed:23243220). May also transport antihypertension agents, such as the angiotensin-converting enzyme (ACE) inhibitor prodrug enalapril, and the highly selective angiotensin II AT1-receptor antagonist valsartan, in the liver (PubMed:16627748, PubMed:16624871).
messages: Membrane
messages: N-glycosylated.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PLA2G4F
gene id: 9606:PLA2G4F
uniprot id: A5PKZ7
uniprot id: Q68DD2
names: Activity Regulation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Expressed in myocardium (at protein level).
messages: Has calcium-dependent phospholipase and lysophospholipase activities with a potential role in membrane lipid remodeling and biosynthesis of lipid mediators (PubMed:29158256). Preferentially hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity) (PubMed:29158256). Selectively hydrolyzes sn-2 arachidonoyl group from membrane phospholipids, providing the precursor for eicosanoid biosynthesis (PubMed:29158256). In myocardial mitochondria, plays a major role in arachidonate release that is metabolically channeled to the formation of cardioprotective eicosanoids, epoxyeicosatrienoates (EETs) (PubMed:29158256).
messages: Mitochondrion
messages: Stimulated by cytosolic Ca(2+).
messages: The N-terminal C2 domain associates with lipid membranes upon calcium binding.
messages: The N-terminal C2 domain associates with lipid membranes upon calcium binding. It modulates enzyme activity by presenting the active site to its substrate in response to elevations of cytosolic Ca(2+) (By similarity).
messages: cytosol

9606:SMDT1
gene id: 9606:SMDT1
uniprot id: Q9H4I9
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A publication reports an opposite topology (PubMed:26774479). However, 3 different articles, 2 in human and one in mouse, confirm the topology shown in this entry (PubMed:27099988, PubMed:27642048).
messages: Belongs to the SMDT1/EMRE family.
messages: Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1 (PubMed:24231807). Interacts (via the transmembrane region) with MCU (via the first transmembrane region); the interaction is direct (PubMed:27099988). Interacts (via the poly-Asp region) with MICU1 (via polybasic region); the interaction is direct (PubMed:27099988). Interacts (via its C-terminal poly-Asp tail) with MCUR1; the interaction is direct (PubMed:27184846). Unprocessed form interacts (via transit peptide) with MAIP1 (PubMed:27642048).
messages: Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria (PubMed:24231807, PubMed:26774479, PubMed:27099988). Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU (PubMed:24231807). Plays a central role in regulating the uniplex complex response to intracellular calcium signaling (PubMed:27099988). Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling (PubMed:27099988).
messages: Mitochondrion inner membrane
messages: The GXXXX[G/A/S] motif at the C-terminal part of the transmembrane region mediates interaction with MCU and is required to activate the calcium-conducting pore in the uniporter complex.
messages: The poly-Asp region at the C-terminus mediates interaction with the polybasic region of MICU1.
messages: Undergoes proteolytic degradation in neurons: degraded by AFG3L2 before SMDT1/EMRE assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048).

9606:TSBP1
gene id: 9606:TSBP1
uniprot id: Q5SRN2
names: Subcellular Location Annotation
messages: Membrane

9606:SYK
gene id: 9606:SYK
uniprot id: A0A024R244
uniprot id: A0A024R273
uniprot id: P43405
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Epstein-Barr virus LMP2A.
messages: Autoinhibited. Intramolecular binding of the interdomains A and B (also called linker region) to parts of the catalytic domain keep the catalytic center in an inactive conformation. The phosphorylation of the interdomains or the binding of the SH2 domains with dually phosphorylated ITAM domains on transmembrane proteins disrupt those intramolecular interactions allowing the kinase domain to adopt an active conformation. The phosphorylation of SYK and of the ITAM domains which is responsible for SYK activation is essentially mediated by SRC subfamily kinases, like LYN, upon transmembrane receptors engagement. May also be negatively regulated by PTPN6 through dephosphorylation. Downstream signaling adapters and intermediates like BLNK or RHOH may mediate positive and/or negative feedback regulation. Negatively regulated by CBL and CBLB through ubiquitination and probable degradation. Phosphorylates SH3BP2 which in turn may regulate SYK through LYN (By similarity).
messages: Autophosphorylated. Phosphorylated on tyrosine residues by LYN following receptors engagement. Phosphorylation on Tyr-323 creates a binding site for CBL, an adapter protein that serves as a negative regulator of BCR-stimulated calcium ion signaling. Phosphorylation at Tyr-348 creates a binding site for VAV1. Phosphorylation on Tyr-348 and Tyr-352 enhances the phosphorylation and activation of phospholipase C-gamma and the early phase of calcium ion mobilization via a phosphoinositide 3-kinase-independent pathway (By similarity). Phosphorylated on tyrosine residues in response to IL15 (PubMed:15123770). Phosphorylation on Ser-297 is very common, it peaks 5 minutes after BCR stimulation, and creates a binding site for YWHAG. Phosphorylation at Tyr-630 creates a binding site for BLNK. Dephosphorylated by PTPN6.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. SYK/ZAP-70 subfamily.
messages: Cell membrane
messages: Interacts with LYN; phosphorylates SYK (By similarity). Interacts with RHOH (phosphorylated); regulates mast cells activation (By similarity). Interacts with NFAM1 (phosphorylated); probably involved in BCR signaling (By similarity). Interacts with VAV1 (via SH2 domain); phosphorylates VAV1 upon BCR activation. Interacts with GAB2 (phosphorylated); probably involved in IgE Fc receptor signaling (By similarity). Interacts (via its SH2 domains) with CD79A (via its phosphorylated ITAM domain); the interaction stimulates SYK autophosphorylation and activation (By similarity). Interacts with FCRL3 (PubMed:19843936, PubMed:11162587). Interacts (via SH2 domains) with FCER1G (via ITAM domain); activates SYK and mediates neutrophils and macrophages integrin-mediated activation (By similarity). Interaction with FCER1G in basophils triggers IL3-induced IL4 production (By similarity). Interacts with ITGB2 and FGR; involved in ITGB2 downstream signaling (By similarity). Interacts with ITGB3; upon activation by ITGB3 promotes platelet adhesion. Interacts (via SH2 domains) with TYROBP (via ITAM domain); involved in neutrophils and macrophages integrin-mediated activation (By similarity). Interacts with MSN and SELPLG; mediates the selectin-dependent activation of SYK by SELPLG. Interacts with BLNK (via SH2 domain). Interacts (via the second SH2 domain) with USP25 (via C-terminus); phosphorylates USP25 and regulates USP25 intracellular levels. Interacts (via SH2 domains) with CLEC1B (dimer). Interacts with CLEC7A; participates in leukocyte activation in presence of fungal pathogens. Interacts (phosphorylated) with SLA; may regulate SYK through CBL recruitment. Interacts with YWHAG; attenuates BCR-induced membrane translocation and activation of SYK. Interacts (via SH2 domains) with GCSAM; the interaction increases after B-cell receptor stimulation, resulting in enhanced SYK autophosphorylation and activity. Interacts with TNS2; leading to the phosphorylation of SYK (PubMed:22019427…
messages: Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development (PubMed:33782605). Assembles into signaling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine-phosphorylated ITAM domains. The association with the receptor can also be indirect and mediated by adapter proteins containing ITAM or partial hemITAM domains. The phosphorylation of the ITAM domains is generally mediated by SRC subfamily kinases upon engagement of the receptor. More rarely signal transduction via SYK could be ITAM-independent. Direct downstream effectors phosphorylated by SYK include VAV1, PLCG1, PI-3-kinase, LCP2 and BLNK. Initially identified as essential in B-cell receptor (BCR) signaling, it is necessary for the maturation of B-cells most probably at the pro-B to pre-B transition. Activated upon BCR engagement, it phosphorylates and activates BLNK an adapter linking the activated BCR to downstream signaling adapters and effectors. It also phosphorylates and activates PLCG1 and the PKC signaling pathway. It also phosphorylates BTK and regulates its activity in B-cell antigen receptor (BCR)-coupled signaling. In addition to its function downstream of BCR also plays a role in T-cell receptor signaling. Plays also a crucial role in the innate immune response to fungal, bacterial and viral pathogens. It is for instance activated by the membrane lectin CLEC7A. Upon stimulation by fungal proteins, CLEC7A together with SYK activates immune cells inducing the production of ROS. Also activates the inflammasome and NF-kappa-B-mediated transcription of chemokines and cytokines in presence of pathogens. Regulates neutrophil degranulation and phagocytosi…
messages: The SH2 domains mediate the interaction of SYK with the phosphorylated ITAM domains of transmembrane proteins. Some proteins like CLEC1B have a partial ITAM domain (also called hemITAM) containing a single YxxL motif. The interaction with SYK requires CLEC1B homodimerization.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by CBLB after BCR activation; which promotes proteasomal degradation.
messages: Widely expressed in hematopoietic cells (at protein level) (PubMed:8163536). Expressed in neutrophils (at protein level) (PubMed:15123770). Within the B-cell compartment, expressed from pro- and pre-B cells to plasma cells (PubMed:8163536).
messages: cytosol

9606:SERPINE3
gene id: 9606:SERPINE3
uniprot id: A8MV23
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the serpin family.
messages: Probable serine protease inhibitor.
messages: Secreted

9606:ZNF358
gene id: 9606:ZNF358
uniprot id: Q9NW07
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:MANSC4
gene id: 9606:MANSC4
uniprot id: A6NHS7
names: Subcellular Location Annotation
messages: Membrane

9606:STARD3
gene id: 9606:STARD3
uniprot id: Q14849
names: Caution
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the STARD3 family.
messages: Expressed in retina.
messages: Homodimer (PubMed:15718238, PubMed:16709157). Interacts (via the MENTAL domain) with STARD3NL (PubMed:15718238, PubMed:16709157). Interacts (via FFAT motif) with VAPA (PubMed:24105263, PubMed:28377464). Interacts (via FFAT motif) with VAPB (PubMed:24105263, PubMed:28377464). Interacts (via FFAT motif) with MOSPD2 (via MSP domain) (PubMed:29858488).
messages: Late endosome membrane
messages: Not regulated by increases in total cholesterol content, or by marked alterations in cholesterol flux.
messages: STARD3 was reported to function in cholesterol transport to the mitochondria or to the cell membrane (PubMed:12070139, PubMed:19965586). Other reports however showed that it mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:28377464). Discrepancies may be due to the different cell type used and the cellular physiological state (PubMed:28377464).
messages: Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464). Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263, PubMed:28377464). Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes (PubMed:28377464). May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane (PubMed:12070139, PubMed:19965586). However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:28377464). Does not activate transcriptional cholesterol sensing (PubMed:28377464). Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina (PubMed:21322544).
messages: The FFAT motif mediates interaction with VAPA, VAPB and MOSPD2.
messages: The MENTAL domain anchors the protein in endosome membranes and exposes the START domain in the cytosol (PubMed:11053434). It binds cholesterol and mediates homotypic as well as heterotypic interactions between STARD3 and STARD3NL (PubMed:15718238, PubMed:16709157).
messages: The START domain mediates lipid-transfer between membranes. It contains a hydrophobic cavity able to accommodate one lipid molecule, thereby serving as a 'hydrophobic bridge' across the aqueous gap between donor and acceptor organelle membranes.

9606:MYO7B
gene id: 9606:MYO7B
uniprot id: Q6PIF6
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
messages: Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. May link the complex to the actin core bundle of microvilli (Probable).
messages: Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5 (PubMed:24725409, PubMed:26812018). Interacts with CDHR2 (PubMed:24725409). Interacts with CDHR5 (PubMed:24725409). Interacts with USH1C (PubMed:24725409, PubMed:26812017, PubMed:26812018). Interacts with ANKS4B; requires initial interaction with USH1C (PubMed:26812018).
messages: Represents an unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7).
messages: cytoskeleton
messages: microvillus

9606:CEP120
gene id: 9606:CEP120
uniprot id: Q8N960
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CEP120 family.
messages: Interacts with TACC2, TACC3, CCDC52, TALPID3.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome

9606:DPYSL3
gene id: 9606:DPYSL3
uniprot id: A0A140VK07
uniprot id: Q14195
uniprot id: Q6DEN2
uniprot id: Q8IXW6
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family.
messages: Cytoplasm
messages: Homotetramer, and heterotetramer with CRMP1, DPYSL2, DPYSL4 or DPYSL5 (By similarity). Interacts with synaptic vesicle protein 2 and SH3A domain of intersectin (By similarity). Interacts with FLNA (PubMed:25358863).
messages: Lacks most of the conserved residues that are essential for binding the metal cofactor and hence for dihydropyrimidinase activity. Its enzyme activity is therefore unsure.
messages: Mainly expressed in heart and skeletal muscle. Also strongly expressed in fetal brain and spinal cord.
messages: Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity).
messages: Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration.
messages: Phosphorylation on Ser-522 by DYRK2 promotes subsequent phosphorylation on Thr-509, Thr-514 and Ser-518 by GSK3.
messages: growth cone

9606:PAFAH2
gene id: 9606:PAFAH2
uniprot id: Q99487
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the serine esterase family.
messages: Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex.
messages: Catalyzes the hydrolyze of the acetyl group at the sn-2 position of platelet-activating factor (PAF) and its analogs, leading to their inactivation (PubMed:9494101). Hydrolyzes propionyl and butyroyl moieties approximately half as effectively as PAF (By similarity). Also catalyzes transacetylation of the acetyl group from platelet-activating factor (PAF) to lysoplasmalogen and to sphingosine, producing plasmalogen analogs of PAF and N-acetylsphingosine (C2-ceramide) respectively. Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position (By similarity).
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Inhibited by phenylmethanesulfonyl fluoride, 3,4,dichloroisocoumarin, diisopropyl fluorophosphate (DFP) and diethyl p-nitrophenyl phosphate (DENP).
messages: Membrane
messages: Monomer.

9606:SLC35F5
gene id: 9606:SLC35F5
uniprot id: Q8WV83
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SLC35F solute transporter family.
messages: Expressed in colorectal cancer cells.
messages: Membrane
messages: Putative solute transporter.

9606:ZNF672
gene id: 9606:ZNF672
uniprot id: Q499Z4
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Non-canonical splice intron-exon junction.
messages: Nucleus

9606:ZNF211
gene id: 9606:ZNF211
uniprot id: Q13398
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:DENND3
gene id: 9606:DENND3
uniprot id: A2RUS2
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Forms oligomers. Interacts with 6 of the 7 known isoforms of 14-3-3 proteins.
messages: Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form (PubMed:20937701). Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the degradation of the transferrin receptor and of the amino acid transporter PAT4 (PubMed:20937701). Starvation also induces phosphorylation at Tyr-858, which leads to up-regulated GEF activity and initiates autophagy (By similarity).
messages: Inactive DENND3 is found in a closed conformation, in which the linker region interacts with the DENN domain. Phosphorylation of Tyr-858 in the linker region intereferes with this interaction leading to an open conformation and enhances the GEF activity of the protein towards RAB12.

9606:TRIM65
gene id: 9606:TRIM65
uniprot id: Q6PJ69
names: Similarity
messages: Belongs to the TRIM/RBCC family.

9606:SEPHS2
gene id: 9606:SEPHS2
uniprot id: Q99611
names: Cofactor
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Belongs to the selenophosphate synthase 1 family. Class I subfamily.
messages: Binds 1 Mg(2+) ion per monomer.
messages: Homodimer.
messages: Synthesizes selenophosphate from selenide and ATP.
messages: Truncated SEPHS2 proteins produced by failed UGA/Sec decoding are ubiquitinated by the CRL2(KLHDC3) complex, which recognizes the glycine (Gly) at the C-terminus of truncated SEPHS2 proteins.

9606:RNF183
gene id: 9606:RNF183
uniprot id: Q96D59
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:29507230). Triggers apoptosis in response to prolonged ER stress by mediating the polyubiquitination and subsequent proteasomal degradation of BCL2L1 (PubMed:29507230). May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849).
messages: Autoubiquitinated (in vitro).
messages: Endoplasmic reticulum
messages: Endoplasmic reticulum membrane
messages: Interacts with FATE1 (PubMed:26567849). Interacts with SEC16A (By similarity). Interacts with BCL2L1 (PubMed:29507230).
messages: Kidney and testis.
messages: Lysosome membrane
messages: Up-regulated by ER stress in an ERN1-dependent manner.
messages: cis-Golgi network membrane

9606:SFXN2
gene id: 9606:SFXN2
uniprot id: A0A0C4DGR6
uniprot id: Q96NB2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sideroflexin family.
messages: Membrane
messages: Mitochondrial amino-acid transporter that mediates transport of serine into mitochondria (PubMed:30442778). Involved in mitochondrial iron homeostasis by regulating heme biosynthesis (PubMed:30570704).
messages: Mitochondrion inner membrane
messages: Mitochondrion outer membrane
messages: Widely expressed, highest levels in kidney, liver, and pancreas.

9606:SLC2A7
gene id: 9606:SLC2A7
uniprot id: Q6PXP3
names: Activity Regulation
names: Caution
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: According to some reports, mediates transmembrane transport of glucose and fructose (PubMed:15033637, PubMed:16186102, PubMed:29548810). However, another group could not confirm transporter activity for glucose or fructose (PubMed:28083649).
messages: Apical cell membrane
messages: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
messages: Cell membrane
messages: Expressed in small intestine and colon (PubMed:15033637). Weakly expressed in testis and prostate (PubMed:15033637).
messages: Expression is increased in presence of fructose.
messages: Glucose and fructose transport are inhibited by the flavonoid apigenin.
messages: Probable sugar transporter (PubMed:28083649). Even if its physiological substrate is subject to discussion, it is able to transport glucose and fructose (PubMed:29548810, PubMed:28083649, PubMed:16186102). Does not transport galactose, 2-deoxy-d-glucose and xylose (PubMed:15033637).

9606:PTPRZ1
gene id: 9606:PTPRZ1
uniprot id: P23471
names: Caution
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein-tyrosine phosphatase family. Receptor class 5 subfamily.
messages: Cell membrane
messages: Contaminating sequence. The N-terminus may be contaminated with vector sequence.
messages: Protein tyrosine phosphatase that negatively regulates oligodendrocyte precursor proliferation in the embryonic spinal cord. Required for normal differentiation of the precursor cells into mature, fully myelinating oligodendrocytes. May play a role in protecting oligondendrocytes against apoptosis. May play a role in the establishment of contextual memory, probably via the dephosphorylation of proteins that are part of important signaling cascades (By similarity).
messages: Secreted
messages: Specifically expressed in the central nervous system, where it is localized in the Purkinje cell layer of the cerebellum, the dentate gyrus, and the subependymal layer of the anterior horn of the lateral ventricle. Developmentally regulated in the brain.
messages: The carbonic-anhydrase like domain interacts with CNTN1 (contactin) (PubMed:20133774). Interacts with PTN (PubMed:16814777). Interaction with PTN promotes formation of homooligomers; oligomerization impairs phosphatase activity (By similarity). Interacts (via chondroitin sulfate chains) with MDK (via C-terminal); this interaction is inhibited by PTN; this interaction promotes neuronal migration (By similarity).
messages: The human genome was initially thought to contain 2 genes for PTPRZ: PTPRZ1 (on chr 7) and PTPRZ2 (on chr 1). However, PTPRZ2 probably does not exist and corresponds to PTPRZ1.
messages: Was termed (PubMed:8387522 and PubMed:2170109) RPTPase beta.

9606:MISP
gene id: 9606:MISP
uniprot id: Q8IVT2
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with F-actin. Interacts with DCTN1; this interaction regulates DCTN1 distribution at the cell cortex. Interacts with PTK2/FAK and MAPRE1.
messages: Belongs to the MISP family.
messages: Phosphorylated by CDK1 and PLK1. CDK1 is the priming kinase for PLK1 phosphorylation. Phosphorylation by PLK1 is required for proper spindle orientation at metaphase.
messages: Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus.
messages: Regulated in a cell-cycle dependent manner. Weakly expressed in G1 and S phases. Expression increases in G2/M phases and persisting until the end of mitosis (at protein level).
messages: cell cortex
messages: cytoskeleton
messages: focal adhesion

9606:KLK8
gene id: 9606:KLK8
uniprot id: O60259
names: Activity Regulation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase S1 family. Kallikrein subfamily.
messages: Cytoplasm
messages: Expressed at high levels in serum, ascites fluid and tumor cytosol of advanced stage ovarian cancer patients and may serve as a marker of ovarian cancer.
messages: Inhibited by a range of serine protease inhibitors including antipain, aprotinin, leupeptin, benzamidine and soybean trypsin inhibitor.
messages: Interacts with SPINK9.
messages: Isoform 1 is predominantly expressed in the pancreas. Isoform 2 is expressed in adult brain and hippocampus. Isoform 1 and isoform 2 are found in fetal brain and placenta. Detected in salivary gland, uterus, thymus, breast, testis and kidney but not in spleen, liver, lung or normal ovarian tissue. Displays an 11.5-fold increase in Alzheimer disease hippocampus compared to controls and is overexpressed in some ovarian carcinomas. Expressed at low levels in normal skin while high levels are found in psoriasis vulgaris, seborrheic keratosis, lichen planus and squamous cell carcinoma skin samples. Expressed in the keratinocytes.
messages: Produced as a result of a human-specific mutation which is not found in other primates.
messages: Secreted
messages: Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal cord injury.

9606:FBXO40
gene id: 9606:FBXO40
uniprot id: Q9UH90
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Directly interacts with SKP1 and CUL1.
messages: Expressed only in heart and skeletal muscle.
messages: Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis.
messages: The expression decreases in the dystrophic muscle of Limb-girdle muscular dystrophy (LGMD) patient.

9606:GALNT8
gene id: 9606:GALNT8
uniprot id: Q9NY28
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
messages: Golgi apparatus membrane
messages: Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
messages: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
messages: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
messages: Widely expressed. Expressed in heart, skeletal muscle, kidney, liver, small intestine and placenta. Weakly expressed in colon, thymus, spleen, lung and leukocyte.

9606:MTERF3
gene id: 9606:MTERF3
uniprot id: E5RIK9
uniprot id: Q96E29
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the mTERF family.
messages: Binds promoter DNA and regulates initiation of transcription (PubMed:17662942). Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity).
messages: Contains seven structural repeats of about 35 residues, where each repeat contains three helices. The repeats form a superhelical structure with a solenoid shape.
messages: Highly expressed in heart, liver, kidney and testis. Detected at lower levels in brain, spleen and lung.
messages: Mitochondrion

9606:FAR1
gene id: 9606:FAR1
uniprot id: Q8WVX9
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the fatty acyl-CoA reductase family.
messages: Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123, PubMed:33239752). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity).
messages: Down-regulated by ether lipids/plasmalogen that induce its degradation (at protein level).
messages: Interacts with PEX19; PEX19 mediates the targeting of FAR1 to peroxisomes.
messages: Peroxisome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:GRK5
gene id: 9606:GRK5
uniprot id: P34947
names: Activity Regulation
names: Function
names: Induction
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylated. Autophosphorylation may play a critical role in the regulation of GRK5 kinase activity.
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Highest levels in heart, placenta, lung > skeletal muscle > brain, liver, pancreas > kidney.
messages: Inhibited by calmodulin with an IC(50) of 50 nM. Calmodulin inhibits GRK5 association with receptor and phospholipid.
messages: Interacts with ST13 (via the C-terminus 303-319 AA) (PubMed:21728385). Interacts with TP53/p53 (PubMed:20124405). Interacts with HTR4 (via C-terminus 330-346 AA); this interaction is promoted by 5-HT (serotonin) (PubMed:19661922). Interacts with HDAC5 (By similarity). Interacts with GIT1 (By similarity).
messages: Nucleus
messages: Overexpressed during heart failure.
messages: Serine/threonine kinase that phosphorylates preferentially the activated forms of a variety of G-protein-coupled receptors (GPCRs). Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their down-regulation. Phosphorylates a variety of GPCRs, including adrenergic receptors, muscarinic acetylcholine receptors (more specifically Gi-coupled M2/M4 subtypes), dopamine receptors and opioid receptors. In addition to GPCRs, also phosphorylates various substrates: Hsc70-interacting protein/ST13, TP53/p53, HDAC5, and arrestin-1/ARRB1. Phosphorylation of ARRB1 by GRK5 inhibits G-protein independent MAPK1/MAPK3 signaling downstream of 5HT4-receptors. Phosphorylation of HDAC5, a repressor of myocyte enhancer factor 2 (MEF2) leading to nuclear export of HDAC5 and allowing MEF2-mediated transcription. Phosphorylation of TP53/p53, a crucial tumor suppressor, inhibits TP53/p53-mediated apoptosis. Phosphorylation of ST13 regulates internalization of the chemokine receptor. Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor, LRP6 during Wnt signaling (in vitro).
messages: Variant Leu-41 variant is rare in European-Americans individuals but common in African-Americans individuals (40% of the African-American individuals studied carry at least one allele). Variant leu-41 is associated with decreased mortality in African-Americans with heart failure or cardiac ischemia.

9606:TENM2
gene id: 9606:TENM2
uniprot id: A0A8Q3SIA3
uniprot id: F8VNQ3
uniprot id: G3V106
uniprot id: Q9NT68
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a ligand of the ADGRL1 receptor. Mediates axon guidance and heterophilic cell-cell adhesion.
messages: Belongs to the tenascin family. Teneurin subfamily.
messages: Cell membrane
messages: Cytoplasmic proline-rich regions could serve as docking domains for intracellular SH3-containing proteins.
messages: Derives from the membrane form by proteolytic processing.
messages: Derives from the plasma membrane form by proteolytic cleavage and translocates to the nucleus. Homophilic binding of the C-terminal extracellular domain stimulates its proteolytic cleavage and release in the cytoplasmic. Is subjected to rapid degradation by the proteasome pathway (By similarity).
messages: EGF-like domains 2 and 5 which have an odd number of cysteines might enable the formation of intermolecular disulfide bonds.
messages: Endoplasmic reticulum
messages: Golgi apparatus
messages: Highly expressed in heart, followed by brain, liver, kidney and fetal brain and weakly expressed in lung and testis. No expression was detected in skeletal muscle, pancreas, spleen, ovary and fetal liver.
messages: Homodimer; disulfide-linked (Probable). Heterodimer with either TENM1 or TENM3. May also form heterodimer with TENM4 (By similarity). Isoform 2 (C-terminal globular domain) interacts with ADGRL1 isoform 2.
messages: Induces gene transcription inhibition.
messages: Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Promotes the formation of filopodia and enlarged growth cone in neuronal cells. Induces homophilic cell-cell adhesion (By similarity). May function as a cellular signal transducer.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: PML body
messages: Postsynaptic cell membrane
messages: Synapse
messages: dendritic spine
messages: filopodium
messages: growth cone
messages: synaptosome

9606:SLC51B
gene id: 9606:SLC51B
uniprot id: Q86UW2
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the OST-beta family.
messages: Cell membrane
messages: Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood (PubMed:16317684). Modulates SLC51A glycosylation, membrane trafficking and stability activities (PubMed:16317684). The Ost-alpha/Ost-beta complex efficiently transports the major species of bile acids (taurocholate) (PubMed:16317684). Taurine conjugates are transported more efficiently across the basolateral membrane than glycine-conjugated bile acids (By similarity). Can also transport steroids such as estrone 3-sulfate and dehydroepiandrosterone 3-sulfate, therefore playing a role in the enterohepatic circulation of sterols (PubMed:16317684). Able to transport eicosanoids such as prostaglandin E2 (By similarity).
messages: Interacts with SLC51A. The Ost-alpha/Ost-beta complex is a heterodimer composed of alpha (SLC51A) and beta (SLC51B) subunit; induces the transport of SLC51A from the reticulum endoplasmic to the plasma membrane (By similarity).
messages: Positively regulated via NR1H4/FXR.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: The transmembrane domain (TM) is the major site of interaction with SLC51A. The extracellular-membrane interface is absolutely required for transport activity. The intracellular-membrane interface is necessary for establishing the correct membrane orientation that is essential for the heterodimer Ost-alpha/Ost-beta complex formation and transport activity at the cell membrane surface (By similarity).
messages: Widely expressed with a high expression in ileum. Expressed in testis, colon, liver, small intestine, kidney, ovary and adrenal gland; and at low levels in heart, lung, brain, pituitary, thyroid gland, uterus, prostate, mammary gland and fat.

9606:RANGRF
gene id: 9606:RANGRF
uniprot id: Q9HD47
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the MOG1 family.
messages: Cell membrane
messages: Cytoplasm
messages: Isoform 1 and isoform 2 are ubiquitously expressed (PubMed:11290418). Detected in heart and brain (PubMed:21621375).
messages: May regulate the intracellular trafficking of RAN (PubMed:11290418). Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1 (PubMed:29040603). Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics (PubMed:29040603). Enhances the expression of SCN5A at the cell membrane in cardiomyocytes (PubMed:18184654, PubMed:23420830, PubMed:21621375).
messages: Monomer. Interacts with RAN, both RAN-GTP and RAN-GDP (PubMed:11290418, PubMed:29040603). Competes with RCC1 for a common binding site on RAN and thereby inhibits RCC1-mediated nucleotide exchange (PubMed:29040603). Forms a complex with RAN-GTP and RANBP1 (By similarity). Interacts with the cytoplasmic loop 2 of SCN5A (PubMed:18184654).
messages: Nucleus
messages: Overexpression can rescue the trafficking defect caused by some SCN5A mutations that impair trafficking to the cell membrane.
messages: perinuclear region

9606:PSME3
gene id: 9606:PSME3
uniprot id: A0A024R203
uniprot id: B3KQ25
uniprot id: P61289
uniprot id: V9HWJ8
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with human cytomegalovirus UL27.
messages: Acetylation at the major site Lys-195 is important for oligomerization and ability to degrade its target substrates. Deacetylated by SIRT1.
messages: Belongs to the PA28 family.
messages: Cytoplasm
messages: Homoheptamer; the stability of the heptamer is essential for the specific activation of the trypsine-like subunit and inhibition of the chymotrypsin-like and postglutamyl-preferring (PGPH) subunits of the proteasome. Interacts with p53/TP53 and MDM2. Interacts with MAP3K3 (By similarity). Associates with the proteasome. Interacts with CCAR2. Interacts with PSME3IP1 (via C-terminus); the interaction is direct and promotes the association of PSME3 with the 20S proteasome (PubMed:29934401). Interacts with COIL; the interaction is inhibited by PSME3IP1 (PubMed:29934401).
messages: Nucleus
messages: Phosphorylated by MAP3K3 (By similarity). Phosphorylation at Ser-247 promotes its association with CCAR2.
messages: Subunit of the 11S REG-gamma (also called PA28-gamma) proteasome regulator, a doughnut-shaped homoheptamer which associates with the proteasome. 11S REG-gamma activates the trypsin-like catalytic subunit of the proteasome but inhibits the chymotrypsin-like and postglutamyl-preferring (PGPH) subunits. Facilitates the MDM2-p53/TP53 interaction which promotes ubiquitination- and MDM2-dependent proteasomal degradation of p53/TP53, limiting its accumulation and resulting in inhibited apoptosis after DNA damage. May also be involved in cell cycle regulation. Mediates CCAR2 and CHEK2-dependent SIRT1 inhibition (PubMed:25361978).
messages: The C-terminal sequences affect heptamer stability and proteasome affinity.
messages: Up-regulated in thyroid carcinoma cells.

9606:CDH26
gene id: 9606:CDH26
uniprot id: Q8IXH8
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Ligand for integrins alpha-E/beta-7, ITGAE:ITGAB7, alpha-4/beta-7, ITGA4:ITGAB7 and alpha-4/beta-1, ITGA4:ITGAB1 through which modulates CD4(+) T cells activation (PubMed:28051089).
messages: Cell membrane
messages: Expressed by epithelial cells of gastrointestinal tissue.
messages: Homodimer (PubMed:28051089). Component of a cadherin:catenin adhesion complex composed of at least of CDH26, beta-catenin/CTNNB1, alpha-catenin/CTNNA1 and p120 catenin/CTNND1 (PubMed:28051089).
messages: N-glycosylated.
messages: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.

9606:MEGF6
gene id: 9606:MEGF6
uniprot id: O75095
names: Subcellular Location Annotation
messages: Secreted

9606:IDH3A
gene id: 9606:IDH3A
uniprot id: B7Z9J8
uniprot id: P50213
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the isocitrate and isopropylmalate dehydrogenases family.
messages: Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.
messages: Divalent metal cations; Mn(2+) or Mg(2+). Activity higher in presence of Mn(2+) than of Mg(2+). Binds 1 Mg(2+) or Mn(2+) ion per subunit.
messages: Heterooligomer of subunits alpha (IDH3A), beta (IDH3B), and gamma (IDH3G) in the apparent ratio of 2:1:1. The heterodimer containing one IDH3A and one IDH3B subunit and the heterodimer containing one IDH3A and one IDH3G subunit assemble into a heterotetramer (which contains two subunits of IDH3A, one of IDH3B and one of IDH3G) and further into the heterooctamer.
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The heterotetramer and the heterodimer composed of IDH3A and IDH3G subunits can be allosterically activated by citrate (CIT) or/and ADP, and the two activators can act independently or synergistically. The heterodimer composed of IDH3A and IDH3B subunits cannot be allosterically regulated and the allosteric regulation of the heterotetramer is through the IDH3G subunit and not the IDH3B subunit. The IDH3G subunit contains the allosteric site which consists of a CIT-binding site and an ADP-binding site, and the binding of CIT and ADP causes conformational changes at the allosteric site which are transmitted to the active site in the catalytic subunit (IDH3A) through a cascade of conformational changes at the heterodimer interface, leading to stabilization of the isocitrate-binding at the active site and thus activation of the enzyme. ATP can activate the heterotetramer and the heterodimer composed of IDH3A and IDH3G subunits at low concentrations but inhibits their activities at high concentrations, whereas ATP exhibits only inhibitory effect on the heterodimer composed of IDH3A and IDH3B subunits.

9606:CTSL
gene id: 9606:CTSL
uniprot id: A0A024R276
uniprot id: P07711
uniprot id: Q9HBQ7
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) In cells lacking TMPRSS2 expression, facilitates human coronaviruses SARS-CoV and SARS-CoV-2 infections via a slow acid-activated route with the proteolysis of coronavirus spike (S) glycoproteins in lysosome for entry into host cell (PubMed:32142651, PubMed:32221306, PubMed:16339146, PubMed:18562523). Proteolysis within lysosomes is sufficient to activate membrane fusion by coronaviruses SARS-CoV and EMC (HCoV-EMC) S as well as Zaire ebolavirus glycoproteins (PubMed:16081529, PubMed:26953343, PubMed:18562523).
messages: Apical cell membrane
messages: Belongs to the peptidase C1 family.
messages: Dimer of a heavy and a light chain linked by disulfide bonds. Interacts with Long isoform of CD74/Ii chain; the interaction stabilizes the conformation of mature CTSL.
messages: During export along the endocytic pathway, pro-CTSL undergoes several proteolytic cleavages to generate the CTSL single-chain and two-chain mature forms, composed of a heavy chain linked to a light chain by disulfide bonds (By similarity). Autocleavage; produces the single-chain CTSL after cleavage of the propeptide. The cleavage can be intermolecular (PubMed:9468501).
messages: Functions in the regulation of cell cycle progression through proteolytic processing of the CUX1 transcription factor (PubMed:15099520). Translation initiation at downstream start sites allows the synthesis of isoforms that are devoid of a signal peptide and localize to the nucleus where they cleave the CUX1 transcription factor and modify its DNA binding properties (PubMed:15099520).
messages: Inhibited by the propeptide produced by autocleavage (PubMed:9468501). Long isoform of CD74/Ii chain stabilizes the conformation of mature CTSL by binding to its active site and serving as a chaperone to help maintain a pool of mature enzyme in endocytic compartments and extracellular space of APCs. IFNG enhances the conversion into the CTSL mature and active form (By similarity). Inhibited by CST6. Inhibited by the glycopeptide antibiotic teicoplanin (PubMed:26953343). Inhibited by amantadine (PubMed:32361028).
messages: Lysosome
messages: Nucleus
messages: Secreted
messages: Thiol protease important for the overall degradation of proteins in lysosomes (Probable). Plays a critical for normal cellular functions such as general protein turnover, antigen processing and bone remodeling. Involved in the solubilization of cross-linked TG/thyroglobulin and in the subsequent release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (By similarity). In neuroendocrine chromaffin cells secretory vesicles, catalyzes the prohormone proenkephalin processing to the active enkephalin peptide neurotransmitter (By similarity). In thymus, regulates CD4(+) T cell positive selection by generating the major histocompatibility complex class II (MHCII) bound peptide ligands presented by cortical thymic epithelial cells. Also mediates invariant chain processing in cortical thymic epithelial cells (By similarity). Major elastin-degrading enzyme at neutral pH. Accumulates as a mature and active enzyme in the extracellular space of antigen presenting cells (APCs) to regulate degradation of the extracellular matrix in the course of inflammation (By similarity). Secreted form generates endostatin from COL18A1 (PubMed:10716919). Critical for cardiac morphology and function. Plays an important role in hair follicle morphogenesis and cycling, as well as epidermal differentiation (By similarity). Required for maximal stimulation of steroidogenesis by TIMP1 (By similarity).
messages: chromaffin granule
messages: extracellular space

9606:CWF19L2
gene id: 9606:CWF19L2
uniprot id: Q2TBE0
names: Caution
names: Miscellaneous
names: Similarity
messages: Belongs to the CWF19 family.
messages: It is uncertain whether Met-1 or Met-5 is the initiator.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

9606:C1QA
gene id: 9606:C1QA
uniprot id: A0A024RAG6
uniprot id: P02745
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with Staphylococcus aureus protein Cna; this interaction results in the inhibition of the classical complement pathway.
messages: C1 is a calcium-dependent trimolecular complex of C1q, R and S in the molar ration of 1:2:2. C1q subcomponent is composed of nine subunits, six of which are disulfide-linked dimers of the A and B chains, and three of which are disulfide-linked dimers of the C chain. Interacts (via C-terminus) with CD33; this interaction activates CD33 inhibitory motifs (PubMed:28325905). Interacts with CR1 (via Sushi 24 and Sushi 25 domains) (PubMed:29563915, PubMed:9324355).
messages: C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.
messages: O-linked glycans are assumed to be the Glc-Gal disaccharides typically found as secondary modifications of hydroxylated lysines in collagen-like domains.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MMP28
gene id: 9606:MMP28
uniprot id: B3KV06
uniprot id: C0H5X0
uniprot id: Q9H239
names: Cofactor
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase M10A family.
messages: Binds 1 zinc ion per subunit.
messages: Can degrade casein. Could play a role in tissues homeostasis and repair.
messages: Expressed at high levels in testes and lung. Low levels are detected in kidney, pancreas and skin. Also expressed in fetal lung, brain, skeletal muscle and kidney. Expressed selectively in keratinocytes. Widely expressed in several carcinomas as well. Is up-regulated in response to injury in the skin.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: The precursor is cleaved by a furin endopeptidase.
messages: extracellular matrix

9606:HMGCS1
gene id: 9606:HMGCS1
uniprot id: A0A024R059
uniprot id: Q01581
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the thiolase-like superfamily. HMG-CoA synthase family.
messages: Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate, a precursor for cholesterol synthesis.
messages: Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA.
messages: Cytoplasm
messages: Homodimer.

9606:PDE9A
gene id: 9606:PDE9A
uniprot id: A0A0S2Z475
uniprot id: A0A0S2Z4A3
uniprot id: A0A0S2Z4T6
uniprot id: O76083
names: Activity Regulation
names: Cofactor
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cyclic nucleotide phosphodiesterase family.
messages: Belongs to the cyclic nucleotide phosphodiesterase family. PDE9 subfamily.
messages: Binds 1 Mg(2+) ions per subunit. Binds 2 divalent metal cations per subunit: site 1 preferentially binds zinc, while site 2 has a preference for magnesium. Binds magnesium less tightly than zinc.
messages: Binds 1 Zn(2+) ion per subunit. Binds 2 divalent metal cations per subunit: site 1 preferentially binds zinc, while site 2 has a preference for magnesium. Tightly binds zinc.
messages: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: Expressed in all tissues examined (testis, brain, small intestine, skeletal muscle, heart, lung, thymus, spleen, placenta, kidney, liver, pancreas, ovary and prostate) except blood (PubMed:9624146). Highest levels in brain, heart, kidney, spleen, prostate and colon. Isoform PDE9A12 is found in prostate (PubMed:12565835). In brain, present in the cortex, cerebellum, and subiculum (at protein level) (PubMed:22328573). In heart, primarily localizes to myocytes (PubMed:25799991).
messages: Golgi apparatus
messages: Homodimer.
messages: Inhibited by zaprinast; inhibitor is however not specific to PDE9A (PubMed:9624146). Specifically inhibited by BAY-73-6691 (1-(2-chlorophenyl)-6-((2R)-3,3,3- trifluoro-2-methylpropyl)-1,5-dihydro-4H-pyrazolo(3,4-d)pyrimidine-4-one) (PubMed:16150925). BAY-73-9961 has two enantiomers, (R) and (S), due to the presence of a chiral center, and both forms vary in their pattern of interaction (PubMed:20121115, PubMed:21483814). Specifically inhibited by PF-4181366 (4H-Pyrazolo[3,4-d]pyrimidin-4-one, 1- cyclopentyl-1,5-dihydro-6-[(3S,4S)-4-methyl- 1-(6-quinoxalinylmethyl)-3-pyrrolidinyl]-one) (PubMed:19919087). Specifically inhibited by PF-4449613 ((R)-6-(1-(3-phenoxyazetidin-1-yl)ethyl)-1-(tetrahydro-2H-pyran-4-yl)-1H-pyrazolo[3,4-d]pyrimidin- 4(5H)-one) (PubMed:25799991). Specifically inhibited by inhibitor 28 (2-((1-(2-Chlorophenyl)-4-hydroxy-1Hpyrazolo[ 3,4-d]pyrimidin-6-yl)amino)-N-(4- methoxyphenyl)propanamide): inhibitor forms a hydrogen bond with Tyr-484 and Gln-513 (PubMed:22985069). Specifically inhibited by 1-Cyclopentyl-6-[(1r)-1-(3-phenoxyazetidin- 1-Yl)ethyl]-1,5-dihydro-4h-pyrazolo[3,4-D] pyrimidin-4-one: inhibitor forms a hydrogen bond with Tyr-484 and Gln-513 (PubMed:23025719).
messages: N-(4-methoxyphenyl)-N~2~-[1-(2-methylphenyl)-4-oxo-4,5-dihydro-1H-pyrazolo[3,4-d]pyrimidin-6-yl]-L-alaninamide correspond to compound 28.
messages: PDE9A is a potential target for treatment of diseases such as stress-induced heart disease or long-term memory defects. Specific inhibitors, such as BAY-73-6691 or PF-4449613 are promising candidates for clinical tests.
messages: Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP (PubMed:9624146, PubMed:18757755, PubMed:21483814). Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart (PubMed:25799991). Additional experiments are required to confirm whether its ability to hydrolyze natriuretic-peptide-dependent cGMP is specific to heart or is a general feature of the protein (Probable). In brain, involved in cognitive function, such as learning and long-term memory (By similarity).
messages: Up-regulated in left ventricular hypertrophy from aortic stenosis and following heart failure with preserved ejection fraction (at protein level).
messages: perinuclear region
messages: ruffle membrane
messages: sarcolemma

9606:NKAP
gene id: 9606:NKAP
uniprot id: Q8N5F7
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a transcriptional repressor (PubMed:14550261, PubMed:19409814, PubMed:31587868). Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development (PubMed:19409814). Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.
messages: Belongs to the NKAP family.
messages: Component of the Notch corepressor complex. Interacts with CIR1 and HDAC3.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MED7
gene id: 9606:MED7
uniprot id: O43513
uniprot id: Q6IAZ5
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Mediator complex subunit 7 family.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
messages: Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP.
messages: Component of the Mediator complex.
messages: Constitutively sumoylated.
messages: Nucleus

9606:AK3
gene id: 9606:AK3
uniprot id: Q7Z4Y4
uniprot id: Q9UIJ7
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the adenylate kinase family. AK3 subfamily.
messages: Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon GTP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent GTP hydrolysis.
messages: Highly expressed in heart, skeletal muscle and liver, moderately expressed in pancreas and kidney, and weakly expressed in placenta, brain and lung.
messages: Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities.
messages: Mitochondrion matrix
messages: Monomer.

9606:RB1
gene id: 9606:RB1
uniprot id: A0A024RDV3
uniprot id: P06400
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) In case of viral infections, interactions with SV40 large T antigen, HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1's activity.
messages: (Microbial infection) Interacts with HPV E7 protein.
messages: (Microbial infection) Interacts with SV40 large T antigen.
messages: (Microbial infection) Interacts with adenovirus E1A protein.
messages: (Microbial infection) Interacts with human cytomegalovirus/HHV-5 proteins UL82 and UL123.
messages: (Microbial infection) Interacts with molluscum contagiosum virus protein MC007.
messages: Acetylated during keratinocyte differentiation. Acetylation at Lys-873 and Lys-874 regulates subcellular localization. Can be deacetylated by SIRT1.
messages: Belongs to the retinoblastoma protein (RB) family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Expressed in the retina. Expressed in foreskin keratinocytes (at protein level) (PubMed:20940255).
messages: Interacts with ATAD5. Interacts with PRMT2, CDK1 and CDK2 (By similarity). The hypophosphorylated form interacts with and sequesters the E2F1 transcription factor (PubMed:8336704, PubMed:20940255). Interacts with heterodimeric E2F/DP transcription factor complexes containing TFDP1 and either E2F1, E2F3, E2F4 or E2F5, or TFDP2 and E2F4. The unphosphorylated form interacts with EID1, ARID3B, KDM5A, SUV39H1, MJD2A/JHDM3A and THOC1. Interacts with the N-terminal domain of TAF1. Interacts with SNW1, AATF, DNMT1, LIN9, LMNA, KMT5B, KMT5C, PELP1, UHRF2 and TMPO-alpha. May interact with NDC80. Interacts with GRIP1 and UBR4. Interacts with ARID4A and KDM5B. Interacts with E4F1 and LIMD1. Interacts with SMARCA4/BRG1 and HDAC1 (By similarity). Interacts with PSMA3 and USP4. Interacts (when methylated at Lys-860) with L3MBTL1. Interacts with CHEK2; phosphorylates RB1. Interacts with CEBPA (PubMed:15107404). P-TEFB complex interacts with RB1; promotes phosphorylation of RB1 (PubMed:12037672). Interacts with RBBP9; the interaction disrupts RB1 binding to E2F1 (By similarity). Interacts with KAT2B/PCAF and EP300/P300 (By similarity). Interacts with PAX5 (PubMed:10197586).
messages: N-terminus is methylated by METTL11A/NTM1 (By similarity). Monomethylation at Lys-810 by SMYD2 enhances phosphorylation at Ser-807 and Ser-811, and promotes cell cycle progression. Monomethylation at Lys-860 by SMYD2 promotes interaction with L3MBTL1.
messages: Nucleus
messages: Phosphorylated by CDK6 and CDK4, and subsequently by CDK2 at Ser-567 in G1, thereby releasing E2F1 which is then able to activate cell growth. Dephosphorylated at the late M phase. SV40 large T antigen, HPV E7 and adenovirus E1A bind to the underphosphorylated, active form of pRb. Phosphorylation at Thr-821 and Thr-826 promotes interaction between the C-terminal domain C and the Pocket domain, and thereby inhibits interactions with heterodimeric E2F/DP transcription factor complexes. Dephosphorylated at Ser-795 by calcineruin upon calcium stimulation. CDK3/cyclin-C-mediated phosphorylation at Ser-807 and Ser-811 is required for G0-G1 transition. Phosphorylated by CDK1 and CDK2 upon TGFB1-mediated apoptosis.
messages: The Pocket domain binds to the threonine-phosphorylated domain C, thereby preventing interaction with heterodimeric E2F/DP transcription factor complexes.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:10499802). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes (PubMed:10499802). Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription (PubMed:10499802). Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating transcription of E2F responsive genes and triggering entry into S phase (PubMed:10499802). RB1 also promotes the G0-G1 transition upon phosphorylation and activation by CDK3/cyclin-C (PubMed:15084261). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity).

9606:ZFAND6
gene id: 9606:ZFAND6
uniprot id: Q6FIF0
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Interacts with PKN1 (By similarity). Interacts with TRAF2. Interacts with mono- and polyubiquitin. Interacts with PEX6. Interacts with PEX5 (Cys-linked ubiquitinated) (By similarity).
messages: Involved in regulation of TNF-alpha induced NF-kappa-B activation and apoptosis. Involved in modulation of 'Lys-48'-linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes (By similarity).
messages: The A20-type zinc finger domain mediates regulation of NF-kappa-B activity.
messages: The AN1-type zinc finger domain mediates association with TRAF2.
messages: Widely expressed with high level in heart, skeletal muscle, liver, kidney and placenta.

9606:SMCP
gene id: 9606:SMCP
uniprot id: P49901
names: Caution
names: Developmental Stage
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in postmeiotic cells.
messages: Involved in sperm motility. Its absence is associated with genetic background dependent male infertility. Infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (By similarity).
messages: Mitochondrion membrane
messages: Testis. Is selectively expressed in the spermatids of seminiferous tubules.
messages: Was originally thought to be a selenoprotein and was known as sperm mitochondrial capsule selenoprotein.

9606:SLC25A39
gene id: 9606:SLC25A39
uniprot id: B4DFG5
uniprot id: Q9BZJ4
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the mitochondrial carrier (TC 2.A.29) family.
messages: Expressed in many tissues (PubMed:11139402). Abundant in testis and kidney (PubMed:11139402).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Mitochondrial transporter required for glutathione import into mitochondria (PubMed:34707288). Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles (PubMed:34707288). Mitochondrial glutathione is required for the activity and stability of proteins containing iron-sulfur clusters, as well as erythropoiesis (PubMed:34707288).
messages: Mitochondrial transporter required for glutathione import into mitochondria. Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles. Mitochondrial glutathione is required for the activity and stability of proteins containing iron-sulfur clusters, as well as erythropoiesis.
messages: Mitochondrion inner membrane

9606:ZNF280A
gene id: 9606:ZNF280A
uniprot id: A0A0G2JN84
uniprot id: P59817
names: Function
names: Subcellular Location Annotation
messages: May function as a transcription factor.
messages: Nucleus

9606:ITGB4
gene id: 9606:ITGB4
uniprot id: A0A024R8K7
uniprot id: A0A024R8N2
uniprot id: A0A024R8T0
uniprot id: B7ZLD8
uniprot id: P16144
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the integrin beta chain family.
messages: Cell membrane
messages: Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic region) with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Isoform beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1. ITGA6:ITGB4 is found in a ternary complex with NRG1 and ERBB3 (PubMed:20682778). ITGA6:ITGB4 is found in a ternary complex with IGF1 and IGF1R (PubMed:22351760). ITGA6:ITGB4 interacts with IGF2 (PubMed:28873464).
messages: Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).
messages: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.
messages: Membrane
messages: Palmitoylated by DHHC3 at several cysteines of the membrane-proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secondary association with tertaspanins.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230.
messages: hemidesmosome

9606:PFN4
gene id: 9606:PFN4
uniprot id: Q8NHR9
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the profilin family.
messages: Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidic acid (PA). Does not bind to actin (PubMed:19419568), contrary to other family members.
messages: Detected in testis (at protein level).
messages: Reduced levels in Sertoli cell-only syndrome (SCOS) patients.
messages: cytoskeleton

9606:GPR176
gene id: 9606:GPR176
uniprot id: Q14439
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Orphan receptor involved in normal circadian rhythm behavior. Acts through the G-protein subclass G(z)-alpha and has an agonist-independent basal activity to repress cAMP production.

9606:LHX1
gene id: 9606:LHX1
uniprot id: P48742
uniprot id: Q58F18
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in the brain, thymus, and tonsils. Expressed in samples from patients with chronic myeloid leukemia (CML) and in 58% of acute myeloid leukemia (AML) cell lines.
messages: Interacts with LDB1 via the tandem LIM domains.
messages: Nucleus
messages: Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis.
messages: The LIM domains exert a negative regulatory function and disruption of the LIM domains produces an activated form. In addition, two activation domains and a negative regulatory domain exist C-terminally to the homeobox (By similarity).

9606:SETD1B
gene id: 9606:SETD1B
uniprot id: Q9UPS6
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily.
messages: Chromosome
messages: Component of the SET1B/COMPASS complex composed of the catalytic subunit SETD1A, WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1, DPY30 homotrimer and BOD1 (PubMed:23508102, PubMed:17355966, PubMed:18838538). Forms a core complex with the evolutionary conserved subcomplex WRAD composed of WDR5, RBBP5, ASH2L/ASH2 and DPY30 subunits; WRAD differentially stimulates the methyltransferase activity (PubMed:25561738). Interacts with HCFC1 and ASH2L/ASH2 (PubMed:17998332). Interacts (via the RRM domain) with WDR82 (PubMed:17998332). Interacts (via the RRM domain) with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) only in the presence of WDR82 (PubMed:17998332). Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad. Interacts with RBM15 (PubMed:22927943). Interacts (via WIN motif) with WDR5 (PubMed:22665483, PubMed:22266653).
messages: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:25561738, PubMed:17355966). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:17355966). Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity).
messages: Nucleus speckle
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SLC38A11
gene id: 9606:SLC38A11
uniprot id: Q08AI6
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the amino acid/polyamine transporter 2 family.
messages: Membrane
messages: Putative sodium-dependent amino acid/proton antiporter.

9606:FBXO15
gene id: 9606:FBXO15
uniprot id: Q8NCQ5
names: Function
names: Subunit
messages: Directly interacts with SKP1 and CUL1.
messages: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.

9606:CNPPD1
gene id: 9606:CNPPD1
uniprot id: Q9BV87
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CNPPD1 family.
messages: Membrane

9606:ATP6V0C
gene id: 9606:ATP6V0C
uniprot id: P27449
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HTLV-1 accessory protein p12I.
messages: Belongs to the V-ATPase proteolipid subunit family.
messages: Proton-conducting pore forming of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity).
messages: Ubiquitinated by RNF182, leading to its degradation via the ubiquitin-proteasome pathway.
messages: V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (PubMed:33065002). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (PubMed:33065002). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (PubMed:33065002). Interacts with the V0 complex V-ATPase subunit a4 ATP6V0A4 (By similarity). Interacts with LASS2 (PubMed:11543633). Interacts with RNF182; this interaction leads to ubiquitination and degradation via the proteasome pathway (PubMed:18298843).
messages: clathrin-coated vesicle membrane
messages: synaptic vesicle membrane

9606:CIDEC
gene id: 9606:CIDEC
uniprot id: Q96AQ7
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair. Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1. May act as a CEBPB coactivator in the white adipose tissue to control the expression of a subset of CEBPB downstream target genes, including SOCS1, SOCS3, TGFB1, TGFBR1, ID2 and XDH. When overexpressed in preadipocytes, induces apoptosis or increases cell susceptibility to apoptosis induced by serum deprivation or TGFB treatment. As mature adipocytes, that express high CIDEC levels, are quite resistant to apoptotic stimuli, the physiological significance of its role in apoptosis is unclear. May play a role in the modulation of the response to osmotic stress by preventing NFAT5 to translocate into the nucleus and activate its target genes expression.
messages: Endoplasmic reticulum
messages: Expressed mainly in adipose tissue, small intestine, heart, colon and stomach and, at lower levels, in brain, kidney and liver.
messages: Homodimer (By similarity). Interacts with CEBPB. Interacts with NFAT5; this interaction is direct and retains NFAT5 in the cytoplasm (By similarity). Interacts with CIDEA. Interacts with PLIN1.
messages: In omental adipose tissue of obese patients matched for BMI, expression levels tend to correlate with insulin sensitivity. Expression is increased 2-3 fold in the group of patients with high insulin sensitivity, compared to the insulin-resistant group. This observation is consistent with the idea that triglyceride storage in adipocytes plays an important role in sequestering triglycerides and fatty acids away from the circulation and peripheral tissues, thus enhancing insulin sensitivity in liver and muscle. This effect is not significant in subcutaneous adipose tissue (PubMed:18509062). In subcutaneous adipose tissue of diabetic patients, tends to negatively correlate with body mass index and total fat mass, independently of insulin sensitivity (PubMed:18334488).
messages: Lipid droplet
messages: Nucleus
messages: The CIDE-N domain is involved in homodimerization which is crucial for its function in promoting lipid exchange and transfer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated and targeted to proteasomal degradation, resulting in a short half-life. Protein stability depends on triaclyglycerol synthesis, fatty acid availability and lipid droplet formation (By similarity).

9606:N4BP2
gene id: 9606:N4BP2
uniprot id: Q86UW6
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Binds NEDD4 (By similarity). Binds BCL3 and CREBBP.
messages: Cytoplasm
messages: Has 5'-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination.
messages: The Smr domain has nicking endonuclease activity, but no significant double strand cleavage or exonuclease activity.
messages: Ubiquitinated; this targets the protein for degradation by the proteasome.

9606:PUSL1
gene id: 9606:PUSL1
uniprot id: Q8N0Z8
names: Similarity
messages: Belongs to the tRNA pseudouridine synthase TruA family.

9606:OR4A5
gene id: 9606:OR4A5
uniprot id: A0A126GWJ2
uniprot id: Q8NH83
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:DGKD
gene id: 9606:DGKD
uniprot id: A0A024R495
uniprot id: Q16760
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the eukaryotic diacylglycerol kinase family.
messages: Cell membrane
messages: Cytoplasm
messages: Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:12200442, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable). By controlling the levels of diacylglycerol, regulates for instance the PKC and EGF receptor signaling pathways and plays a crucial role during development (By similarity). May also regulate clathrin-dependent endocytosis (PubMed:17880279).
messages: Down-regulated by phorbol esters.
messages: Homooligomer (PubMed:12200442, PubMed:12084710). Monomer (PubMed:12084710). Interacts with AP2A2; regulates clathrin-dependent endocytosis (PubMed:17880279).
messages: Only detected in ovary, and to a lesser extent in spleen.
messages: Phosphorylated (PubMed:12084710). Phosphorylation by PKC induced by phorbol esters prevents homooligomerization and promotes association with membranes (PubMed:12084710).
messages: The PH domain mediates association with membranes.
messages: The SAM domain mediates homooligomerization.
messages: Up-regulated by phorbol esters and EGF.
messages: Widely expressed.
messages: clathrin-coated pit

9606:SOCS7
gene id: 9606:SOCS7
uniprot id: O14512
names: Domain
names: Function
names: Induction
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By IL6/interleukin-6, prolactin and growth hormone.
messages: Cell membrane
messages: Contaminating sequence. The N-terminus may be contaminated with vector sequence.
messages: Cytoplasm
messages: Expressed in brain and leukocytes. Also in fetal lung fibroblasts and fetal brain.
messages: Interacts with phosphorylated IRS4 and PIK3R1 (By similarity). Interacts, via the third proline-rich region, with the second SH3 domain of the adapter protein NCK1. Also interacts with GRB2, INSR, IRS1, PLCG1, SORBS3/vinexin, and phosphorylated STAT3 and STAT5. Interacts with SEPT6.
messages: Nucleus
messages: Regulates signaling cascades probably through protein ubiquitination and/or sequestration. Functions in insulin signaling and glucose homeostasis through IRS1 ubiquitination and subsequent proteasomal degradation. Inhibits also prolactin, growth hormone and leptin signaling by preventing STAT3 and STAT5 activation, sequestering them in the cytoplasm and reducing their binding to DNA. May be a substrate recognition component of a SCF-like E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity).
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes (By similarity). It is required for IRS1 ubiquitination and subsequent proteasomal degradation.

9606:TNFRSF21
gene id: 9606:TNFRSF21
uniprot id: A0A024RD71
uniprot id: O75509
names: Caution
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with hepatitis C virus (HCV) non-structural protein 5A; this interaction allows the modulation by the virus of JNK, p38 MAPK, STAT3, and Akt signaling pathways in a DR6-dependent manner.
messages: Cell membrane
messages: Detected in fetal spinal cord and in brain neurons, with higher levels in brain from Alzheimer disease patients (at protein level). Highly expressed in heart, brain, placenta, pancreas, lymph node, thymus and prostate. Detected at lower levels in lung, skeletal muscle, kidney, testis, uterus, small intestine, colon, spleen, bone marrow and fetal liver. Very low levels were found in adult liver and peripheral blood leukocytes.
messages: Interacts with N-APP (By similarity). Associates with TRADD. Interacts with NGFR.
messages: It is uncertain whether Met-1 or Met-25 is the initiator.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Promotes apoptosis, possibly via a pathway that involves the activation of NF-kappa-B. Can also promote apoptosis mediated by BAX and by the release of cytochrome c from the mitochondria into the cytoplasm. Plays a role in neuronal apoptosis, including apoptosis in response to amyloid peptides derived from APP, and is required for both normal cell body death and axonal pruning. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is further cleaved to release an N-terminal fragment of APP (N-APP). N-APP binds TNFRSF21; this triggers caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6). Negatively regulates oligodendrocyte survival, maturation and myelination. Plays a role in signaling cascades triggered by stimulation of T-cell receptors, in the adaptive immune response and in the regulation of T-cell differentiation and proliferation. Negatively regulates T-cell responses and the release of cytokines such as IL4, IL5, IL10, IL13 and IFNG by Th2 cells. Negatively regulates the production of IgG, IgM and IgM in response to antigens. May inhibit the activation of JNK in response to T-cell stimulation.
messages: Up-regulated by TNF.

9606:OCIAD2
gene id: 9606:OCIAD2
uniprot id: Q56VL3
names: Subcellular Location Annotation
messages: Endosome

9606:MMP17
gene id: 9606:MMP17
uniprot id: Q9ULZ9
names: Cofactor
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase M10A family.
messages: Binds 1 zinc ion per subunit.
messages: Cell membrane
messages: Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF-alpha at the '74-Ala-|-Gln-75' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1-antitrypsin.
messages: Expressed in brain, leukocytes, colon, ovary testis and breast cancer. Expressed also in many transformed and non-transformed cell types.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: The precursor is cleaved by a furin endopeptidase.
messages: extracellular matrix

9606:WRAP53
gene id: 9606:WRAP53
uniprot id: Q9BUR4
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Over-expressed following infection by Epstein-Barr virus.
messages: Belongs to the TCAB1 family.
messages: Cajal body
messages: Chromosome
messages: Component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534). Interacts with the chaperonin-containing T-complex (TRiC) complex; which mediates the folding of WRAP53/TCAB1 (PubMed:25467444). Interacts with COIL (PubMed:21072240). Interacts with SMN1 (PubMed:21072240). Interacts with RNF8 (PubMed:25512560). Interacts with histone H2AX (PubMed:26734725, PubMed:27715493).
messages: Expressed in all tissues and cell lines examined.
messages: Phosphorylated at Ser-64 by ATM in response to DNA damage, promoting its interaction with histone H2AX and localization to sites of DNA double-strand breaks.
messages: RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29804836, PubMed:29695869). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) (PubMed:19285445, PubMed:20351177, PubMed:29804836, PubMed:29695869). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex (PubMed:27525486, PubMed:29804836). Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity (PubMed:29804836). In addition, also controls telomerase holoenzyme complex localization to Cajal body (PubMed:22547674). During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity (PubMed:29804836). In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies (PubMed:19285445, PubMed:21072240). Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks (PubMed:25512560, PubMed:27715493). Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) (PubMed:25512560, PubMed:27715493).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The mRNA encoding this protein plays a critical role in the regulation of p53/TP53 expression at the post-transcriptional level; it is involved both in maintaining basal p53/TP53 mRNA levels and in p53/TP53 induction upon DNA damage.
messages: telomere

9606:UGT2B4
gene id: 9606:UGT2B4
uniprot id: P06133
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the UDP-glycosyltransferase family.
messages: Endoplasmic reticulum membrane
messages: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:18719240, PubMed:23288867). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:18719240, PubMed:23288867). Catalyzes the glucuronidation of the endogenous estrogen hormones such as estradiol and estriol (PubMed:18719240, PubMed:23288867).
messages: UGT2B4 has been previously described as an enzyme named UGT2B11. However the name UGT2B11 has now been reused for another human protein (see AC O75310).

9606:INSYN2B
gene id: 9606:INSYN2B
uniprot id: A6NMK8
names: Similarity
messages: Belongs to the INSYN2 family.

9606:EMC7
gene id: 9606:EMC7
uniprot id: Q9NPA0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the EMC7 family.
messages: Component of the ER membrane protein complex (EMC).
messages: Endoplasmic reticulum membrane
messages: Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:30415835, PubMed:29809151, PubMed:29242231, PubMed:32459176, PubMed:32439656). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:30415835, PubMed:29809151, PubMed:29242231). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:30415835, PubMed:29809151). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29809151, PubMed:29242231). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable).

9606:SPC24
gene id: 9606:SPC24
uniprot id: B4E086
uniprot id: Q8NBT2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:14738735). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:14738735). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020).
messages: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity.
messages: Belongs to the SPC24 family.
messages: Component of the NDC80 complex, which consists of NDC80/HEC1, CDCA1, SPBC24 and SPBC25. The NDC80 complex is formed by two subcomplexes composed of NDC80/HEC1-CDCA1 and SPBC24-SPBC25. Each subcomplex is formed by parallel interactions through the coiled-coil domains of individual subunits. Formation of a tetrameric complex is mediated by interactions between the C-terminal regions of both subunits of the NDC80/HEC1-CDCA1 subcomplex and the N-terminal regions of both subunits of the SPBC24-SPBC25 complex. The tetrameric NDC80 complex has an elongated rod-like structure with globular domains at either end.
messages: Component of the NDC80 complex.
messages: Nucleus
messages: kinetochore

9606:ZNF7
gene id: 9606:ZNF7
uniprot id: P17097
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus
messages: Ubiquitously present in many human cell lines of different embryological derivation.

9606:HMBS
gene id: 9606:HMBS
uniprot id: A0A8I5KXV4
uniprot id: P08397
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen (PubMed:18936296, PubMed:19138865, PubMed:23815679). Catalysis begins with the assembly of the dipyrromethane cofactor by the apoenzyme from two molecules of porphobilinogen or from preuroporphyrinogen. The covalently linked cofactor acts as a primer, around which the tetrapyrrole product is assembled. In the last step of catalysis, the product, preuroporphyrinogen, is released, leaving the cofactor bound to the holodeaminase intact (PubMed:18936296).
messages: Belongs to the HMBS family.
messages: Binds 1 dipyrromethane group covalently.
messages: Cytoplasm
messages: Is found only in erythroid cells.
messages: Is ubiquitously expressed.
messages: Monomer.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PKD1L1
gene id: 9606:PKD1L1
uniprot id: Q8TDX9
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the polycystin family.
messages: Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning.
messages: Detected in testis and in fetal and adult heart.
messages: Heterodimer; heterodimerizes with PKD2 proteins to form a calcium channel. Interacts with PKD2L1; to form ciliary calcium channel. Interacts with PKD2.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium membrane

9606:ZSCAN9
gene id: 9606:ZSCAN9
uniprot id: A0A024RCK9
uniprot id: O15535
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:KRT36
gene id: 9606:KRT36
uniprot id: O76013
names: Miscellaneous
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the intermediate filament family.
messages: Expressed in the hair follicles.
messages: Heterotetramer of two type I and two type II keratins.
messages: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

9606:TSLP
gene id: 9606:TSLP
uniprot id: Q969D9
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytokine that induces the release of T-cell-attracting chemokines from monocytes and, in particular, enhances the maturation of CD11c(+) dendritic cells. Can induce allergic inflammation by directly activating mast cells.
messages: Interacts with a receptor composed of CRLF2 and IL7R. Binding of TSLP to CRLF2/TSLPR is a mechanistic prerequisite for recruitment of IL7R to the high-affinity ternary complex.
messages: Isoform 1 is expressed in a number of tissues including heart, liver and prostate. Isoform 2 is the predominant form in keratinocytes of oral mucosa, skin and in salivary glands. It is secreted into saliva.
messages: May act as an antimicrobial peptide in the oral cavity and on the skin.
messages: Released by primary epithelial cells in response to certain microbial products, physical injury, or inflammatory cytokines.
messages: Secreted

9606:SPATA1
gene id: 9606:SPATA1
uniprot id: Q5VX52
names: Caution
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with IFT20.
messages: It is uncertain whether Met-1 or Met-23 is the initiator.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: acrosome

9606:TNFSF10
gene id: 9606:TNFSF10
uniprot id: P50591
uniprot id: Q6IBA9
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the tumor necrosis factor family.
messages: Cell membrane
messages: Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG (PubMed:26457518, PubMed:10549288). Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis.
messages: Homotrimer (PubMed:26457518). One TNFSF10 homotrimer interacts with three TNFSF10A mononers (PubMed:26457518). One TNFSF10 homotrimer interacts with three TNFSF10B mononers (PubMed:10549288).
messages: Homotrimer.
messages: Induced upon HIV infection, antagonizes signaling via TRAIL receptor R2 (TNFRSF10B).
messages: Membrane
messages: Secreted
messages: Tyrosine phosphorylated by PKDCC/VLK.
messages: Widespread; most predominant in spleen, lung and prostate.

9606:CDK11B
gene id: 9606:CDK11B
uniprot id: P21127
names: Activity Regulation
names: Caution
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with human herpes virus 1 (HHV-1) transcriptional regulator ICP22.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
messages: Cleaved isoform SV9 (p110C) binds to the serine/threonine kinase PAK1 and RANBP9. p110C interacts with RNPS1. Isoform 7, but not isoform SV9, nor its cleavage product p110C, interacts with CCND3. Interacts with CCNL1 and CCNL2. Forms complexes with pre-mRNA-splicing factors, including at least SRSF1, SRSF2 and SRSF7/SLU7. Interacts with isoform 5 of MYO18A (PubMed:25965346).
messages: Cytoplasm
messages: Duplicated gene. CDK11A and CDK11B encode almost identical protein kinases of 110 kDa that contain at their C-termini the open reading frame of a smaller 58 kDa isoform which is expressed following IRES-mediated alternative initiation of translation.
messages: During FAS- or TNF-induced apoptosis, isoform SV9 is cleaved by caspases to produce p110C, a fragment that contains the C-terminal kinase domain.
messages: Expressed ubiquitously. Some evidence of isoform-specific tissue distribution.
messages: Isoform 7 is induced in G2/M phase of the cell cycle.
messages: Many references talk about 'p110 isoforms' but it is not yet known if this refers to CDK11A and/or CDK11B or one/some of the isoforms of each.
messages: Nucleus
messages: Phosphorylation at Ser-115 creates a binding site for 14-3-3 proteins. p110C can be autophosphorylated.
messages: Phosphorylation at Thr-448 or Tyr-449 inactivates the enzyme, while phosphorylation at Thr-595 activates it.
messages: Plays multiple roles in cell cycle progression, cytokinesis and apoptosis. Involved in pre-mRNA splicing in a kinase activity-dependent manner. Isoform 7 may act as a negative regulator of normal cell cycle progression.
messages: Produced by alternative initiation at Met-357 of isoform SV9 via an internal ribosomal entry site (IRES).

9606:ESR1
gene id: 9606:ESR1
uniprot id: A0A125SXW3
uniprot id: A8KAF4
uniprot id: G4XH65
uniprot id: H0Y4W6
uniprot id: P03372
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Polymorphism
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the nuclear hormone receptor family.
messages: Belongs to the nuclear hormone receptor family. NR3 subfamily.
messages: Binds DNA as a homodimer.
messages: Binds DNA as a homodimer. Can form a heterodimer with ESR2. Interacts with FOXC2, MAP1S, SLC30A9, UBE1C and NCOA3 coactivator (By similarity). Interacts with PELP1, the interaction is enhanced by 17-beta-estradiol, the interaction increases ESR1 transcriptional activity (PubMed:11481323, PubMed:14963108). Interacts with EP300; the interaction is estrogen-dependent and enhanced by CITED1. Interacts with CITED1; the interaction is estrogen-dependent. Interacts with NCOA5 and NCOA6 coactivators. Interacts with NCOA7; the interaction is a ligand-inducible. Interacts with PHB2, and UBE1C. Interacts with AKAP13. Interacts with CUEDC2. Interacts with KDM5A. Interacts with SMARD1. Interacts with HEXIM1. Interacts with PBXIP1. Interaction with MUC1 is stimulated by 7 beta-estradiol (E2) and enhances ESR1-mediated transcription. Interacts with DNTTIP2, FAM120B and UIMC1. Interacts with isoform 4 of TXNRD1. Interacts with KMT2D/MLL2. Interacts with ATAD2 and this interaction is enhanced by estradiol. Interacts with KIF18A and LDB1. Interacts with RLIM (via C-terminus). Interacts with MACROD1. Interacts with SH2D4A and PLCG. Interaction with SH2D4A blocks binding to PLCG and inhibits estrogen-induced cell proliferation. Interacts with DYNLL1. Interacts with CCDC62 in the presence of estradiol/E2; this interaction seems to enhance the transcription of target genes. Interacts with NR2C1; the interaction prevents homodimerization of ESR1 and suppresses its transcriptional activity and cell growth. Interacts with DNAAF4. Interacts with PRMT2. Interacts with RBFOX2. Interacts with STK3/MST2 only in the presence of SAV1 and vice-versa. Binds to CSNK1D. Interacts with NCOA2; NCOA2 can interact with ESR1 AF-1 and AF-2 domains simultaneously and mediate their transcriptional synergy. Interacts with DDX5 (PubMed:11682626). Interacts with NCOA1; the interaction seems to require a self-association of N-terminal and C-terminal regions. Interacts with ZNF366, DDX17, NFKB1, RELA, SP1 and SP3.…
messages: Cell membrane
messages: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. The modulating domain, also known as A/B or AF-1 domain has a ligand-independent transactivation function. The C-terminus contains a ligand-dependent transactivation domain, also known as E/F or AF-2 domain which overlaps with the ligand binding domain. AF-1 and AF-2 activate transcription independently and synergistically and act in a promoter- and cell-specific manner. AF-1 seems to provide the major transactivation function in differentiated cells.
messages: Cytoplasm
messages: Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization (PubMed:18657504, PubMed:24498420). Demethylated by JMJD6 at Arg-260 (PubMed:24498420).
messages: Genetic variations in ESR1 are correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture.
messages: Glycosylated; contains N-acetylglucosamine, probably O-linked.
messages: Golgi apparatus
messages: Involved in activation of NOS3 and endothelial nitric oxide production (PubMed:21937726). Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full-length receptor (PubMed:10970861). Binds to ERE and inhibits isoform 1 (PubMed:10970861).
messages: Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3 (PubMed:17922032).
messages: Nucleus
messages: Palmitoylated (isoform 3). Not biotinylated (isoform 3).
messages: Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation, but not for signaling mediated by the nuclear hormone receptor.
messages: Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity. Self-association induces phosphorylation. Dephosphorylation at Ser-118 by PPP5C inhibits its transactivation activity. Phosphorylated by LMTK3 in vitro.
messages: Probably homodimerizes or heterodimerizes with isoform 1 and ESR2.
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform 3.
messages: Selective estrogen receptor modulators (SERMs), such as tamoxifen, raloxifene, toremifene, lasofoxifene, clomifene, femarelle and ormeloxifene, have tissue selective agonistic and antagonistic effects on the estrogen receptor (ER). They interfere with the ER association with coactivators or corepressors, mainly involving the AF-2 domain.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues.
messages: Ubiquitinated; regulated by LATS1 via DCAF1 it leads to ESR1 proteasomal degradation (PubMed:21602804, PubMed:28068668). Deubiquitinated by OTUB1 (PubMed:19383985).
messages: Was reported to be activated by DDX5. However, this study has been retracted due to concerns of image manipulation.
messages: Widely expressed (PubMed:10970861). Not expressed in the pituitary gland (PubMed:10970861).
messages: Widely expressed, however not expressed in the pituitary gland.
messages: contains an in-frame duplication of exons 6 and 7.

9606:PRPF39
gene id: 9606:PRPF39
uniprot id: Q86UA1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the PRP39 family.
messages: Involved in pre-mRNA splicing.
messages: Nucleus

9606:NQO1
gene id: 9606:NQO1
uniprot id: B4DLR8
uniprot id: P15559
names: Activity Regulation
names: Function
names: Induction
names: Miscellaneous
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NAD(P)H dehydrogenase (quinone) family.
messages: By dioxin (PubMed:1657151). By oxidative stress (PubMed:21636573).
messages: Flavin-containing quinone reductase that catalyzes two-electron reduction of quinones to hydroquinones using either NADH or NADPH as electron donors. In a ping-pong kinetic mechanism, the electrons are sequentially transferred from NAD(P)H to flavin cofactor and then from reduced flavin to the quinone, bypassing the formation of semiquinone and reactive oxygen species (PubMed:8999809, PubMed:9271353) (By similarity). Regulates cellular redox state primarily through quinone detoxification. Reduces components of plasma membrane redox system such as coenzyme Q and vitamin quinones, producing antioxidant hydroquinone forms. In the process may function as superoxide scavenger to prevent hydroquinone oxidation and facilitate excretion (PubMed:8999809, PubMed:9271353, PubMed:15102952). Alternatively, can activate quinones and their derivatives by generating redox reactive hydroquinones with DNA cross-linking antitumor potential (PubMed:8999809). Acts as a gatekeeper of the core 20S proteasome known to degrade proteins with unstructured regions. Upon oxidative stress, interacts with tumor suppressors TP53 and TP73 in a NADH-dependent way and inhibits their ubiquitin-independent degradation by the 20S proteasome (PubMed:15687255, PubMed:28291250).
messages: Homodimer (PubMed:10543876, PubMed:10706635, PubMed:11735396, PubMed:11587640, PubMed:16700548, PubMed:28291250). Interacts with PDLIM4 isoform 2; this interaction stabilizes PDLIM4 isoform 2 in response to oxidative stress and protects it from ubiquitin-independent degradation by the core 20S proteasome (PubMed:21636573). Interacts with TP73 (via SAM domain); this interaction is NADH-dependent, stabilizes TP73 in response to oxidative stress and protects it from ubiquitin-independent degradation by the 20S proteasome (PubMed:28291250, PubMed:15687255). Interacts with TP53; this interaction is NADH-dependent, stabilizes TP53 in response to oxidative stress and protects it from ubiquitin-independent degradation by the 20S proteasome (PubMed:15687255).
messages: Inhibited by dicoumarol.
messages: Quinone reductase accepts electrons from both NADH and NADPH with equal efficiency.
messages: The Ser-187 polymorphism may be linked to susceptibility to forms of cancers.
messages: cytosol

9606:FAT2
gene id: 9606:FAT2
uniprot id: Q6PIA2
uniprot id: Q9NYQ8
names: Caution
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell junction
messages: Cell membrane
messages: Expressed in epidermal keratinocytes, infant brain, cerebellum, and also in a variety of tumors, such as pancreatic cancer, diffuse type gastric cancer, ovarian cancer, esophageal cancer, skin squamous cell carcinoma, head and neck cancer. Not expressed in melanoma cell line A375 cells, normal epidermal melanocytes or normal dermal fibroblasts. Expressed in epidermal keratinocytes and squamous cell carcinoma (at protein level).
messages: Homodimer.
messages: Involved in the regulation of cell migration (PubMed:18534823). May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: trans-Golgi network

9606:ZNF48
gene id: 9606:ZNF48
uniprot id: Q96MX3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:EFCAB9
gene id: 9606:EFCAB9
uniprot id: A8MZ26
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. pH-dependent Ca(2+) sensor required to activate the CatSper channel. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Associates with the CatSper complex via direct interaction with CATSPERZ, and senses intracellular Ca(2+). Together with CATSPERZ, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel.
messages: Component of the CatSper complex or CatSpermasome composed of the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE, CATSPERZ, C2CD6/CATSPERT, TMEM249, TMEM262 and EFCAB9 (By similarity). HSPA1 may be an additional auxiliary complex member (By similarity). The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel (By similarity). The auxiliary CATSPERB, CATSPERG, CATSPERD and CATSPERE subunits form a pavilion-like structure over the pore which stabilizes the complex through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively (By similarity). TMEM262/CATSPERH interacts with CATSPERB, further stabilizing the complex. C2CD6/CATSPERT interacts at least with CATSPERD and is required for targeting the CatSper complex in the flagellar membrane (By similarity). Interacts with CATSPERZ; the interaction is direct, Ca(2+)-dependent and connects EFCAB9 with the CatSper complex (By similarity). Dissociates from CATSPERZ at elevated pH (By similarity).
messages: Cytoplasm
messages: In mouse, Slco6c1 is an additional auxiliary subunit of the CatSper complex. It is unclear if the related SLCO6A1 protein performs the same role in non-rodent species.
messages: flagellum

9606:SYT4
gene id: 9606:SYT4
uniprot id: Q9H2B2
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the synaptotagmin family.
messages: Expressed in melanocytes (PubMed:23999003). Expressed in brain. Within brain, expression is highest in hippocampus, with substantial levels also detected in amygdala and thalamus (PubMed:23999003).
messages: Interacts with KIF1A; the interaction increases in presence of calcium and decreases when SYT4 is phosphorylated at Ser-135.
messages: Phosphorylation at Ser-135 by MAPK8/JNK1 reduces interaction with KIF1A and neuronal dense core vesicles mobility.
messages: Synaptotagmin family member which does not bind Ca(2+) (PubMed:23999003) (By similarity). Involved in neuronal dense core vesicles (DCVs) mobility through its interaction with KIF1A. Upon increased neuronal activity, phosphorylation by MAPK8/JNK1 destabilizes the interaction with KIF1A and captures DCVs to synapses (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
messages: Unlike in other synaptotagmin family members, the first C2 domain/C2A does not bind Ca(2+) neither mediates Ca(2+)-dependent phospholipid binding. An aspartate-to-serine substitution in this domain inactivates Ca(2+)/phospho-lipid binding.
messages: neuronal dense core vesicle membrane

9606:MAFG
gene id: 9606:MAFG
uniprot id: O15525
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated in erythroid cells by CREB-binding protein (CBP). Acetylation augments the DNA-binding activity of NFE2, but has no effect on binding NFE2.
messages: Belongs to the bZIP family. Maf subfamily.
messages: Highly expressed in skeletal muscle. Also expressed in heart and brain.
messages: Homodimer or heterodimer. Homodimerization leads to transcriptional repression. Forms high affinity heterodimers with members of the CNC-bZIP family such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3 (PubMed:8932385, PubMed:9421508, PubMed:11154691). Interacts with CREBBP; the interaction leads to acetylation of the basic region of MAFG and stimulation of NFE2 transcriptional activity through increased DNA binding.
messages: Nucleus
messages: Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:11154691). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1 and NFE2L2, and recruiting them to specific DNA-binding sites (PubMed:8932385, PubMed:9421508, PubMed:11154691). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NFE2L2 transcription factor (PubMed:11154691). Transcription factor, component of erythroid-specific transcription factor NFE2L2 (PubMed:11154691). Activates globin gene expression when associated with NFE2L2 (PubMed:11154691). May be involved in signal transduction of extracellular H(+) (By similarity).
messages: Sumoylation at Lys-14 is required for active transcriptional repression.

9606:CAMK2B
gene id: 9606:CAMK2B
uniprot id: A4D2J9
uniprot id: Q13554
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by Ca(2+)/calmodulin. Binding of calmodulin results in conformational change that relieves intrasteric autoinhibition and allows autophosphorylation of Thr-287 which turns the kinase in a constitutively active form and confers to the kinase a Ca(2+)-independent activity.
messages: Activity is induced in skeletal muscle during exercise.
messages: Autophosphorylation of Thr-287 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-287 locks the kinase into an activated state.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
messages: CAMK2 is composed of 4 different chains: alpha (CAMK2A), beta (CAMK2B), gamma (CAMK2G), and delta (CAMK2D). The different isoforms assemble into homo- or heteromultimeric holoenzymes composed of 12 subunits with two hexameric rings stacked one on top of the other (PubMed:14722083, Ref.20). Interacts with SYNGAP1 and CAMK2N2 (By similarity). Interacts with MPDZ (PubMed:15312654). Interacts with FOXO3 (By similarity). Interacts (when in a kinase inactive state not associated with calmodulin) with ARC; leading to target ARC to inactive synapses (By similarity). Interacts with CAMK2N1; this interaction requires CAMK2B activation by Ca(2+) (By similarity).
messages: Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle (PubMed:16690701). In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeting of CaMK2A, which acts downstream of NMDAR to promote dendritic spine and synapse formation and maintain synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In developing hippocampal neurons, promotes arborization of the dendritic tree and in mature neurons, promotes dendritic remodeling. Also regulates the migration of developing neurons (PubMed:29100089). Participates in the modulation of skeletal muscle function in response to exercise (PubMed:16690701). In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of triadin, a ryanodine receptor-coupling factor, and phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2. In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (By similarity). Phosphorylates reticulophagy regulator RETREG1 at 'Ser-151' under endoplasmic reticulum stress conditions which enhances RETREG1 oligomerization and its membrane scission and reticulophagy activity (PubMed:31930741).
messages: Sarcoplasmic reticulum membrane
messages: Synapse
messages: The CAMK2 protein kinases contain a unique C-terminal subunit association domain responsible for oligomerization.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Expressed in adult and fetal brain. Expression is slightly lower in fetal brain. Expressed in skeletal muscle.
messages: centrosome
messages: cytoskeleton

9606:PLVAP
gene id: 9606:PLVAP
uniprot id: Q9BX97
names: Disease Annotation
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By phorbol myristate acetate (PMA) or VEGF in endothelial cell culture.
messages: Cell membrane
messages: Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development.
messages: Expressed in lung, kidney, heart, aorta, placenta, muscle, pituitary gland, adrenals, mammary gland, bladder, lymph node, bone marrow, trachea, digestive tract, liver and tumor-associated endothelium.
messages: Homodimer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: caveola
messages: perinuclear region

9606:PROC
gene id: 9606:PROC
uniprot id: P04070
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase S1 family.
messages: Calcium also binds, with stronger affinity to another site, beyond the GLA domain. This GLA-independent binding site is necessary for the recognition of the thrombin-thrombomodulin complex.
messages: Endoplasmic reticulum
messages: Golgi apparatus
messages: May be phosphorylated on a Ser or Thr in a region (AA 25-30) of the propeptide.
messages: N- and O-glycosylated. Partial (70%) N-glycosylation of Asn-371 with an atypical N-X-C site produces a higher molecular weight form referred to as alpha. The lower molecular weight form, not N-glycosylated at Asn-371, is beta. O-glycosylated with core 1 or possibly core 8 glycans.
messages: Plasma; synthesized in the liver.
messages: Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids (PubMed:25618265). Exerts a protective effect on the endothelial cell barrier function (PubMed:25651845).
messages: Secreted
messages: Synthesized as a single chain precursor, which is cleaved into a light chain and a heavy chain held together by a disulfide bond. The enzyme is then activated by thrombin, which cleaves a tetradecapeptide from the amino end of the heavy chain; this reaction, which occurs at the surface of endothelial cells, is strongly promoted by thrombomodulin.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
messages: The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium.

9606:MEF2D
gene id: 9606:MEF2D
uniprot id: Q14814
names: Developmental Stage
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylated on Lys-439 by CREBBP. Acetylated by EP300. Deacetylated by SIRT1 and HDAC3.
messages: Belongs to the MEF2 family.
messages: Interacts with MYOG (By similarity). Forms a complex with class II HDACs in undifferentiating cells. On myogenic differentiation, HDACs are released into the cytoplasm allowing MEF2s to interact with other proteins for activation. Interacts with HDAC4 (in undifferentiating cells); the interaction translocates MEF2D to nuclear dots. Forms a heterodimer with MEF2A. Interacts with MAPK7; the interaction phosphorylates but does not activate MEF2D (By similarity). Interacts with CCAR2 and HDAC3.
messages: Nucleus
messages: Phosphorylated on Ser-444 by CDK5 is required for Lys-439 sumoylation and inhibits transcriptional activity. In neurons, enhanced CDK5 activity induced by neurotoxins promotes caspase 3-mediated cleavage leading to neuron apoptosis. Phosphorylation on Ser-180 can be enhanced by EGF. Phosphorylated and activated by CaMK4.
messages: Present in myotubes and also in undifferentiated myoblasts.
messages: Proteolytically cleaved in cerebellar granule neurons on several sites by caspase 7 following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation (By similarity).
messages: Sumoylated on Lys-439 with SUMO2 but not SUMO1; which inhibits transcriptional activity and myogenic activity. Desumoylated by SENP3.
messages: The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity.
messages: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity).

9606:CDY2A
gene id: 9606:CDY2A
uniprot id: Q9Y6F7
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: May have histone acetyltransferase activity.
messages: Nucleus
messages: Testis specific.

9606:MRGPRX3
gene id: 9606:MRGPRX3
uniprot id: Q96LB0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family. Mas subfamily.
messages: Cell membrane
messages: Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity).
messages: Uniquely localized in a subset of small dorsal root and trigeminal sensory neurons.

9606:SFMBT2
gene id: 9606:SFMBT2
uniprot id: Q5VUG0
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with YY1. Interacts with methylated histones H3K9me2 and H4K20me2, but not with H3K4me2, nor H3K9Ac.
messages: Nucleus
messages: Transcriptional repressor of HOXB13 gene.

9606:FIGNL1
gene id: 9606:FIGNL1
uniprot id: B3KNH6
uniprot id: Q6PIW4
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the AAA ATPase family.
messages: Cytoplasm
messages: Hexamer (By similarity). Interacts (via N-terminal one-half region) with RAD51; the interaction is direct. Interacts (via N-terminal one-half region) with SPIDR (via the C-terminal region); the interaction is direct.
messages: Involved in DNA double-strand break (DBS) repair via homologous recombination (HR). Recruited at DSB sites independently of BRCA2, RAD51 and RAD51 paralogs in a H2AX-dependent manner. May regulate osteoblast proliferation and differentiation (PubMed:23754376). May play a role in the control of male meiosis dynamic (By similarity).
messages: Nucleus
messages: The N-terminus is necessary for its recruitment to DNA damage sites.
messages: perinuclear region

9606:CLCN6
gene id: 9606:CLCN6
uniprot id: P51797
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the chloride channel (TC 2.A.49) family. ClC-6/CLCN6 subfamily.
messages: Late endosome membrane
messages: N-glycosylated on several asparagine residues.
messages: Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform 3 is only detected in kidney.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the late endosome lumen. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters.

9606:SBK3
gene id: 9606:SBK3
uniprot id: P0C264
names: Similarity
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.

9606:CLK1
gene id: 9606:CLK1
uniprot id: P49759
names: Activity Regulation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylates on all three types of residues.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Lammer subfamily.
messages: Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates: SRSF1, SRSF3 and PTPN1. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells and adenovirus E1A pre-mRNA.
messages: Endothelial cells.
messages: Interacts with PPIG and UBL5.
messages: Lacks the kinase domain. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus
messages: Regulates splicing of its own pre-mRNA according to its kinase activity; increased expression of the catalytically active form influences splicing to generate the catalytically inactive splicing variant lacking the kinase domain. Leucettine L41 inhibits its kinase activity and affects the regulation of alternative splicing mediated by phosphorylation of SR proteins (By similarity).

9606:GALNT18
gene id: 9606:GALNT18
uniprot id: Q58A54
uniprot id: Q6P9A2
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
messages: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine (GalNAc) residue from UDP-GalNAc to a serine or threonine residue on the protein receptor.
messages: Golgi apparatus membrane
messages: Membrane
messages: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
messages: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.

9606:ASGR2
gene id: 9606:ASGR2
uniprot id: P07307
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with hepatitis E virus capsid protein ORF2.
messages: Calcium is required for ligand binding.
messages: Expressed exclusively in hepatic parenchymal cells.
messages: Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface.
messages: Membrane
messages: The functioning ligand-binding unit of this receptor is thought to be at least a dimer. Interacts with LASS2.

9606:LCE2B
gene id: 9606:LCE2B
uniprot id: O14633
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Tissue Specificity
messages: Belongs to the LCE cluster present on 1q21.
messages: Belongs to the LCE family.
messages: By calcium and UVB.
messages: Precursors of the cornified envelope of the stratum corneum.
messages: Skin-specific. Expression was readily detected in adult trunk skin, adult arm skin, fetal skin, penal skin, vulva, esophagus and tongue. Not expressed in the cervix, rectum, lung, colon, or placenta.

9606:STK36
gene id: 9606:STK36
uniprot id: Q9NRP7
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: Cytoplasm
messages: Expressed at low levels in most fetal tissues, adult ovaries and at high levels in adult testis, where it is localized in germ cells (PubMed:10806483). Expressed in respiratory epithelial cells of the lung (PubMed:28543983).
messages: Interacts with GLI1, GLI2 and GLI3 (PubMed:10806483). Interacts with SPAG16 and KIF27.
messages: Nucleus
messages: Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function. Essential for construction of the central pair apparatus of motile cilia.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium axoneme

9606:TFRC
gene id: 9606:TFRC
uniprot id: A8K6Q8
uniprot id: B7Z2I6
uniprot id: G3V0E5
uniprot id: P02786
names: Disease Annotation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.
messages: (Microbial infection) Interacts with Guanarito, Junin and Machupo arenavirus glycoprotein complex (PubMed:17287727, PubMed:18268337).
messages: Belongs to the peptidase M28 family. M28B subfamily.
messages: Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to enter and infect cells.
messages: Cell membrane
messages: Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes (PubMed:26214738). Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake (PubMed:26642240). Acts as a lipid sensor that regulates mitochondrial fusion by regulating activation of the JNK pathway (PubMed:26214738). When dietary levels of stearate (C18:0) are low, promotes activation of the JNK pathway, resulting in HUWE1-mediated ubiquitination and subsequent degradation of the mitofusin MFN2 and inhibition of mitochondrial fusion (PubMed:26214738). When dietary levels of stearate (C18:0) are high, TFRC stearoylation inhibits activation of the JNK pathway and thus degradation of the mitofusin MFN2 (PubMed:26214738).
messages: Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system. Acts as a lipid sensor that regulates mitochondrial fusion by regulating activation of the JNK pathway.
messages: Homodimer; disulfide-linked.
messages: Homodimer; disulfide-linked. Binds one transferrin or HFE molecule per subunit. Binds the HLA class II histocompatibility antigen, DR1. Interacts with SH3BP3. Interacts with STEAP3; facilitates TFRC endocytosis in erythroid precursor cells (PubMed:26642240).
messages: Melanosome
messages: Membrane
messages: N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated.
messages: Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation.
messages: Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR).
messages: Regulated by cellular iron levels through binding of the iron regulatory proteins, IRP1 and IRP2, to iron-responsive elements in the 3'-UTR. Up-regulated upon mitogenic stimulation.
messages: Secreted
messages: Serum transferrin receptor (sTfR) is used as a means of detecting erythropoietin (EPO) misuse by athletes and as a diagnostic test for anemia resulting from a number of conditions including rheumatoid arthritis, pregnancy, irritable bowel syndrome and in HIV patients.
messages: Stearoylated by ZDHHC6 which inhibits TFRC-mediated activation of the JNK pathway and promotes mitochondrial fragmentation (PubMed:26214738). Stearoylation does not affect iron uptake (PubMed:26214738).
messages: Stearoylated.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:HOXD8
gene id: 9606:HOXD8
uniprot id: A0A0A0MSX5
uniprot id: P13378
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Antp homeobox family.
messages: Nucleus
messages: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

9606:RAB5A
gene id: 9606:RAB5A
uniprot id: P20339
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Glycosylated on arginine residues by S.typhimurium protein Ssek3.
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Cell membrane
messages: Cytoplasmic vesicle
messages: Early endosome membrane
messages: Endosome membrane
messages: Interacts with SGSM1 and SGSM3 (By similarity). Interacts with PIK3CB (By similarity). Interacts with GDI1; this promotes dissociation from membranes; phosphorylation at Ser-84 disrupts this interaction (PubMed:23815289, PubMed:29125462). Interacts with GDI2; phosphorylation at Ser-84 disrupts the interaction (PubMed:29125462). Interacts with EEA1 (PubMed:10491193, PubMed:20534488). Interacts with RIN1 and GAPVD1, which regulate its pathway, probably by acting as a GEF (PubMed:11703925, PubMed:16410077). Interacts with RINL. Interacts with ALS2CL, SUN2, ZFYVE20 and RUFY1 (PubMed:10818110, PubMed:11062261, PubMed:15388334, PubMed:14617813, PubMed:16034420). Interacts with RABEP1; one RABEP1 homodimer binds two RAB5A chains, but at opposite sides of the dimer (PubMed:15378032). Interacts with OCRL (PubMed:25869668). Interacts with INPP5F. May be a component of a complex composed of RAB5A, DYN2 and PIK3C3 (By similarity). Does not interact with BLOC-3 complex (heterodimer of HPS1 and HPS4) (By similarity). Interacts with CLN5 (PubMed:22431521). Interacts with APPL2 (By similarity). Interacts with F8A1/F8A2/F8A3 (By similarity). Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A onto early endosomes (By similarity).
messages: Melanosome
messages: Membrane
messages: Phosphorylation of Ser-84 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including RAB GDP dissociation inhibitors GDI1 and GDI2.
messages: Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP.
messages: Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Active GTP-bound form is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes (PubMed:10818110, PubMed:14617813, PubMed:16410077, PubMed:15378032). Contributes to the regulation of filopodia extension (PubMed:14978216). Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity).
messages: cytosol
messages: phagosome membrane
messages: ruffle

9606:SOX6
gene id: 9606:SOX6
uniprot id: P35712
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in a wide variety of tissues, most abundantly in skeletal musclen.
messages: Expressed in many prospective brain structures of fetuses (at protein level). Highly expressed in the developing brain with higher expression in the ganglionic eminence, the amygdaloid complex, and the hippocampus. The expression declines in all brain structures in the final stages of gestation and in the neonatal period, such that it is already as low in infants as in adults.
messages: Homodimer (By similarity). Interacts with DAZAP2 (By similarity). May interact with CENPK (By similarity).
messages: Nucleus
messages: Sumoylation inhibits the transcriptional activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity).

9606:EPN2
gene id: 9606:EPN2
uniprot id: O95208
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the epsin family.
messages: Binds EPS15 (By similarity). Interacts with ITSN1 (By similarity). Binds AP-2 and clathrin. Interacts with UBQLN2.
messages: Cytoplasm
messages: Highest expression is found in brain. Detected at lower levels in lung and liver.
messages: Plays a role in the formation of clathrin-coated invaginations and endocytosis.
messages: The DPW repeat domain is involved in AP-2 and clathrin binding.
messages: The NPF repeat domain is involved in EPS15 binding.
messages: Ubiquitinated.
messages: clathrin-coated vesicle

9606:PCOLCE
gene id: 9606:PCOLCE
uniprot id: Q15113
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity.
messages: C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity.
messages: C-terminally processed at multiple positions.
messages: Interacts with EFEMP2.
messages: Secreted

9606:KIF4B
gene id: 9606:KIF4B
uniprot id: B4DYE2
uniprot id: Q2VIQ3
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Chromokinesin subfamily.
messages: Binds 1 [4Fe-4S] cluster (By similarity). In the presence of oxygen, the [4Fe-4S] cluster may be converted to [2Fe-2S] (By similarity).
messages: Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis (By similarity). Translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis (By similarity). May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity).
messages: Nucleus matrix
messages: Specifically expressed in testis.
messages: cytoskeleton

9606:PARP16
gene id: 9606:PARP16
uniprot id: Q8N5Y8
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Auto-mono-ADP-ribosylated.
messages: Belongs to the ARTD/PARP family.
messages: Endoplasmic reticulum membrane
messages: In absence of activation signal, PARP16 is autoinhibited by the PARP alpha-helical domain (also named HD region), which prevents effective NAD(+)-binding (By similarity). Activity is highly stimulated by signals, which unfold the PARP alpha-helical domain, relieving autoinhibition (By similarity).
messages: Interacts with KPNB1.
messages: Intracellular mono-ADP-ribosyltransferase that plays a role in different processes, such as protein translation and unfolded protein response (UPR), through the mono-ADP-ribosylation of proteins involved in those processes (PubMed:22701565, PubMed:23103912, PubMed:25043379, PubMed:34314702). Acts as an inhibitor of protein translation by catalyzing mono-ADP-ribosylation of ribosomal subunits, such as RPL14 and RPS6, thereby inhibiting polysome assembly and mRNA loading (PubMed:34314702). Mono-ADP-ribosylation of ribosomal subunits is promoted by NMNAT2 (PubMed:34314702). Involved in the unfolded protein response (UPR) by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors (PubMed:23103912). May also mediate mono-ADP-ribosylation of karyopherin KPNB1 a nuclear import factor (PubMed:22701565). May not modify proteins on arginine or cysteine residues compared to other mono-ADP-ribosyltransferases (PubMed:22701565).
messages: The PARP alpha-helical domain (also named HD region) is regulatory, it packs against the catalytic domain.

9606:GPC4
gene id: 9606:GPC4
uniprot id: O75487
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glypican family.
messages: Cell membrane
messages: Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular space

9606:SNX13
gene id: 9606:SNX13
uniprot id: A0A024R9Z9
uniprot id: Q86XC4
uniprot id: Q9Y5W8
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the sorting nexin family.
messages: Early endosome membrane
messages: May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis (By similarity). Acts as a GAP for Galphas.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.

9606:ETV2
gene id: 9606:ETV2
uniprot id: K7ERX2
uniprot id: O00321
uniprot id: Q3KNT2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ETS family.
messages: Binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'.
messages: Nucleus

9606:CPXM1
gene id: 9606:CPXM1
uniprot id: Q96SM3
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the peptidase M14 family.
messages: Binds 1 zinc ion per subunit.
messages: May be involved in cell-cell interactions. No carboxypeptidase activity was found yet (By similarity).
messages: Secreted

9606:SEPTIN14
gene id: 9606:SEPTIN14
uniprot id: Q6ZU15
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
messages: Cytoplasm
messages: Expressed in all cell stages of spermatogenesis.
messages: Filament-forming cytoskeletal GTPase (Probable). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Plays a role in sperm head formation during spermiogenesis, potentially via facilitating localization of ACTN4 to cell filaments (PubMed:33228246).
messages: Perikaryon
messages: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Interacts with ACTN4 (PubMed:33228246). Interacts with SEPTIN9 (PubMed:17922164). Interacts (via C-terminus) with SEPTIN4 (By similarity).
messages: Testis-specific (at protein level).
messages: acrosome
messages: axon
messages: cytoskeleton
messages: dendrite
messages: perinuclear region

9606:ZNF394
gene id: 9606:ZNF394
uniprot id: Q53GI3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:DSPP
gene id: 9606:DSPP
uniprot id: Q9NZW4
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: DSP is glycosylated.
messages: DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals.
messages: Expressed in teeth. DPP is synthesized by odontoblast and transiently expressed by pre-ameloblasts.
messages: Interacts with FBLN7.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. DSPP defects causing dentin abnormalities act in a dominant negative manner and include missense, splice-site, frameshift mutations. 5' frameshift mutations cause dentin dysplasia while frameshift mutations at the 3' end cause the more severe dentinogenesis imperfecta phenotype (PubMed:18521831 and PubMed:22392858).
messages: The disease is caused by variants affecting the gene represented in this entry. DSPP defects causing dentin abnormalities act in a dominant negative manner and include missense, splice-site, frameshift mutations. 5' frameshift mutations cause dentin dysplasia while frameshift mutations at the 3' end cause the more severe dentinogenesis imperfecta phenotype (PubMed:18521831, PubMed:22392858).
messages: extracellular matrix

9606:IL3
gene id: 9606:IL3
uniprot id: P08700
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated T-cells, mast cells, natural killer cells.
messages: Belongs to the IL-3 family.
messages: Cytokine secreted predominantly by activated T-lymphocytes as well as mast cells and osteoblastic cells that controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells (PubMed:2556442). Stimulates also mature basophils, eosinophils, and monocytes to become functionally activated (PubMed:10779277, PubMed:32889153). In addition, plays an important role in neural cell proliferation and survival (PubMed:23226269). Participates as well in bone homeostasis and inhibits osteoclast differentiation by preventing NF-kappa-B nuclear translocation and activation (PubMed:12816992). Mechanistically, exerts its biological effects through a receptor composed of IL3RA subunit and a signal transducing subunit IL3RB (PubMed:29374162). Receptor stimulation results in the rapid activation of JAK2 kinase activity leading to STAT5-mediated transcriptional program (By similarity). Alternatively, contributes to cell survival under oxidative stress in non-hematopoietic systems by activating pathways mediated by PI3K/AKT and ERK (PubMed:27862234).
messages: Interacts with IL3RA (PubMed:29374162).
messages: Secreted
messages: Upon activation of the T-cell receptor/CD3 pathway and can be augmented by coactivation of the CD3 and CD28 pathways.

9606:CADM1
gene id: 9606:CADM1
uniprot id: Q9BY67
uniprot id: X5D7A8
uniprot id: X5D8W0
uniprot id: X5DQR8
uniprot id: X5DQS5
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with herpes virus 8 proteins vFLIP and vGPCR; these interactions are essential for NF-kappa-B activation.
messages: Belongs to the nectin family.
messages: Cell membrane
messages: Glycosylation at Asn-67 and Asn-101 promotes adhesive binding and synapse induction.
messages: Homodimer (via Ig-like V-type domain) (PubMed:12050160, PubMed:23871486). Interacts with FARP1 (By similarity). Interacts (via Ig-like V-type domain) with CRTAM (via Ig-like V-type domain); the interaction competes with CRTAM homodimerization and CADM1 homodimerization (PubMed:15811952, PubMed:15781451, PubMed:23871486). Interacts (via C-terminus) with EPB41L3/DAL1 (PubMed:12234973, PubMed:21131357). The interaction with EPB41L3/DAL1 may act to anchor CADM1 to the actin cytoskeleton (PubMed:12234973). Interacts (via C-terminus) with MPP2 (via PDZ domain) (By similarity). Interacts (via C-terminus) with MPP3 (via PDZ domain) (PubMed:13679854). Interacts (via C-terminus) with PALS2 (via PDZ domain) (By similarity).
messages: Mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner (PubMed:22438059, PubMed:12050160). Also mediates heterophilic cell-cell adhesion with CADM3 and NECTIN3 in a Ca(2+)-independent manner (By similarity). Interaction with CRTAM promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM1 in vivo (PubMed:15811952). In mast cells, may mediate attachment to and promote communication with nerves (PubMed:15905536). CADM1, together with MITF, is essential for development and survival of mast cells in vivo (PubMed:22438059). By interacting with CRTAM and thus promoting the adhesion between CD8+ T-cells and CD8+ dendritic cells, regulates the retention of activated CD8+ T-cell within the draining lymph node (By similarity). Required for the intestinal retention of intraepithelial CD4+ CD8+ T-cells and, to a lesser extent, intraepithelial and lamina propria CD8+ T-cells and CD4+ T-cells (By similarity). Interaction with CRTAM promotes the adhesion to gut-associated CD103+ dendritic cells, which may facilitate the expression of gut-homing and adhesion molecules on T-cells and the conversion of CD4+ T-cells into CD4+ CD8+ T-cells (By similarity). Acts as a synaptic cell adhesion molecule and plays a role in the formation of dendritic spines and in synapse assembly (By similarity). May be involved in neuronal migration, axon growth, pathfinding, and fasciculation on the axons of differentiating neurons (By similarity). May play diverse roles in the spermatogenesis including in the adhesion of spermatocytes and spermatids to Sertoli cells and for their normal differentiation into mature spermatozoa (By similarity). Acts as a tumor suppressor in non-small-cell lung cancer (NSCLC) cells (PubMed:11279526, PubMed:12234973). May contribute to the less invasive phenotypes of lepidic growth tumor cells (PubMed:12920246).
messages: Synapse
messages: The cytoplasmic domain appears to play a critical role in proapoptosis and tumor suppressor activity in NSCLC.

9606:FN3KRP
gene id: 9606:FN3KRP
uniprot id: A0A140VK84
uniprot id: Q9HA64
names: Domain
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the fructosamine kinase family.
messages: Ketosamine-3-kinase involved in protein deglycation by mediating phosphorylation of ribuloselysine and psicoselysine on glycated proteins, to generate ribuloselysine-3 phosphate and psicoselysine-3 phosphate, respectively (PubMed:14633848, PubMed:15137908). Ribuloselysine-3 phosphate and psicoselysine-3 phosphate adducts are unstable and decompose under physiological conditions (PubMed:14633848, PubMed:15137908). Not able to phosphorylate fructoselysine (PubMed:14633848).
messages: The ATP-binding domain is structurally related to aminoglycoside phosphotransferase family.
messages: Widely expressed; except in skeletal muscle where it is expressed at very low level (PubMed:15331600). Expressed in erythrocytes (PubMed:15137908).

9606:RAP2B
gene id: 9606:RAP2B
uniprot id: P61225
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. Ras family.
messages: Expressed in red blood cells (at protein level).
messages: Interacts with PLCE1. Interacts with SGSM1, SGSM2 and SGSM3. The GTP-bound form of RAP2B interacts with RUNDC3A (By similarity).
messages: Palmitoylated. Unlike RAP2A and RAP2C, palmitoylation of RAP2B is not required for association with recycling endosome membranes and activation of TNIK.
messages: Recycling endosome membrane
messages: Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. Involved in EGFR and CHRM3 signaling pathways through stimulation of PLCE1. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May regulate membrane vesiculation in red blood cells.
messages: The effector domain mediates the interaction with RUNDC3A.

9606:CCDC181
gene id: 9606:CCDC181
uniprot id: B2R917
uniprot id: Q5TID7
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CCDC181 family.
messages: Homodimer. Interacts with HOOK1. Interacts with HOOK2. Interacts with HOOK3.
messages: Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids.
messages: cytoskeleton
messages: flagellum

9606:LIMS2
gene id: 9606:LIMS2
uniprot id: A0A024RAH1
uniprot id: B3KNZ3
uniprot id: Q7Z4I7
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors.
messages: Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration.
messages: Cell membrane
messages: Interacts with TGFB1I1 (By similarity). Interacts with integrin-linked protein kinase 1 (ILK) via the first LIM domain, and in competition with LIMS1. Part of the heterotrimeric IPP complex composed of integrin-linked kinase (ILK), LIMS1 or LIMS2, and PARVA.
messages: Nucleus
messages: Part of the heterotrimeric IPP complex composed of integrin-linked kinase (ILK), LIMS1 or LIMS2, and PARVA.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: focal adhesion

9606:LRRC52
gene id: 9606:LRRC52
uniprot id: Q8N7C0
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties.
messages: Cell membrane
messages: Mainly expressed in testis and skeletal muscle.
messages: May interact with KCNU1; this interaction may be required for LRRC52 stability and may change the channel gating properties (By similarity). Interacts with KCNMA1.
messages: N-glycosylated.
messages: The transmembrane domain is necessary for interaction with KCNMA1.

9606:POMGNT2
gene id: 9606:POMGNT2
uniprot id: A0A024R2P4
uniprot id: Q8NAT1
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 61 family.
messages: Endoplasmic reticulum membrane
messages: Highly expressed in the brain, muscle, heart, and kidney in both fetus and adult. In the brain, highest expression in the cortex and cerebellum. Highly expressed in the pancreas.
messages: Membrane
messages: O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ARPC2
gene id: 9606:ARPC2
uniprot id: A0A024R408
uniprot id: O15144
uniprot id: Q53R19
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). Seems to contact the mother actin filament (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).
messages: Belongs to the ARPC2 family.
messages: Cell projection
messages: Component of the Arp2/3 complex composed of ACTR2/ARP2, ACTR3/ARP3, ARPC1B/p41-ARC, ARPC2/p34-ARC, ARPC3/p21-ARC, ARPC4/p20-ARC and ARPC5/p16-ARC (PubMed:9230079, PubMed:11741539). Interacts with SHANK3; the interaction probably mediates the association of SHANK3 with the Arp2/3 complex (By similarity). Interacts with DNAI3; this interaction reduces binding of the Arp2/3 complex to the VCA domain of nucleation promoting factors (PubMed:32128961).
messages: Component of the Arp2/3 complex composed of ARP2, ARP3, ARPC1B/p41-ARC, ARPC2/p34-ARC, ARPC3/p21-ARC, ARPC4/p20-ARC and ARPC5/p16-ARC. Interacts with SHANK3; the interaction probably mediates the association of SHANK3 with the Arp2/3 complex.
messages: Functions as actin-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.
messages: Nucleus
messages: cytoskeleton
messages: synaptosome

9606:NLRP5
gene id: 9606:NLRP5
uniprot id: P59047
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (By similarity). Required for the formation of F-actin cytoplasmic lattices (CPL) in oocytes, which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning (By similarity). Required for the localization of cortical granules to the cortex of oocytes, via association with the cortical actin scaffold (By similarity). Required for cortical actin clearance prior to oocyte exocytosis (By similarity). Involved in regulating post-fertilization Ca(2+) release and endoplasmic reticulum (ER) storage via regulation of ER localization (By similarity). May be involved in the localization of mitochondria to the cytoplasm and perinuclear region in oocytes and early stage embryos, independent of its role in CPL formation (By similarity).
messages: Belongs to the NLRP family.
messages: Component of the subcortical maternal complex (SCMC), at least composed of NLRP5, KHDC3, OOEP, and TLE6 isoform 1 (PubMed:25542835). Within the complex, interacts with OOEP, KHDC3L and TLE6 (PubMed:25542835). The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments (PubMed:25542835). As part of the SCMC interacts with the SCMC-associated protein ZBED3 (By similarity). As part of the SCMC interacts with the SCMC-associated protein CFL1/Cofilin-1 (By similarity). Interacts with PRKCE (PubMed:19542546). Interacts with TUBB3 at cytoskeleton microtubules (PubMed:24374158).
messages: Cortical granule
messages: Cytoplasm
messages: Expressed at all stages during oocyte maturation, additionally expressed in granulosa cells and cumulus oophorus cells (PubMed:19192343). Expressed primarily with other SCMC components in the subcortex of oocytes and early embryos (PubMed:25542835). Expression is excluded from cell-cell contact regions after the 2-cell stage (PubMed:25542835).
messages: Expressed in cumulus cells (at protein level) (PubMed:19542546). Highly abundant in oocytes and early embryos, however poorly expressed in somatic tissues such as the liver and spinal cord (PubMed:11925379, PubMed:30877238).
messages: Golgi apparatus
messages: Mitochondrion
messages: NLRP5 variants have been found in a spectrum of phenotypes characterized by aberrant methylation of multiple imprinted loci, a condition known as multi-locus imprinting defect or multi-locus imprinting disturbance (MLID). MLID-related phenotype spectrum ranges from intrauterine death to different types of imprinting disorders, including Beckwith-Wiedemann syndrome (BWS), Silver-Russell syndrome (SRS), and non-specific developmental and behavioral manifestations. MLID has also been observed in individuals without overt clinical manifestations. Recurrent pregnancy loss has been reported in healthy women carrying NLRP5 variants.
messages: Phosphorylated by PRKCE.
messages: nucleolus

9606:VPREB1
gene id: 9606:VPREB1
uniprot id: P12018
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. This complex presumably regulates Ig gene rearrangements in the early steps of B-cell differentiation.
messages: Belongs to the immunoglobulin superfamily.
messages: Endoplasmic reticulum
messages: Interacts with IGLL1 (PubMed:17431183). Interacts with SYNV1/HRD1 (via N-terminus); this interaction leads to increased VPREB1 ubiquitination and degradation in pre-B cells, possibly through a lysosomal, not proteasomal, pathway (By similarity).
messages: Only expressed by pre-B-cells.

9606:DNAJC7
gene id: 9606:DNAJC7
uniprot id: Q99615
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Acts as co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity).
messages: Associates with complexes containing chaperones HSP70 and HSP90. Interacts with the GAP domain of NF1. Interacts with HSP90AA1. Interacts with HSPA1A/B; the interaction is enhanced by ATP. Interacts with HSP90AB1. Interacts with PGR. Interacts with RAD9A; the interaction is interrupted by UV and heat shock treatments. Interacts with HUS1 and RAD1. Interacts with NR1I3. The DNAJC7-NR1I3 complex may also include HSP90 (By similarity). Interacts with HSPA8.
messages: Cytoplasm
messages: Nucleus
messages: cytoskeleton

9606:HS3ST2
gene id: 9606:HS3ST2
uniprot id: Q9Y278
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sulfotransferase 1 family.
messages: Golgi apparatus membrane
messages: Highly expressed in the brain and weakly expressed in the heart, placenta, lung and skeletal muscle.
messages: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate (PubMed:9988768). Catalyzes the O-sulfation of glucosamine in GlcA2S-GlcNS (PubMed:9988768). Unlike HS3ST1/3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate (PubMed:9988768).

9606:ZNF800
gene id: 9606:ZNF800
uniprot id: Q2TB10
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:SPSB3
gene id: 9606:SPSB3
uniprot id: Q6PJ21
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subunit
messages: Belongs to the SPSB family.
messages: Interacts with MET.
messages: Intron retention.
messages: May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.

9606:RGS22
gene id: 9606:RGS22
uniprot id: Q8NE09
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.
messages: Interacts with GNA11, GNA12 and GNA13.
messages: May be due to competing donor splice site.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Nucleus
messages: Testis-specific. Expressed in Leydig cells and spermatogenic cells from the spermatogonia to spermatid stages (at protein level).

9606:GPR137B
gene id: 9606:GPR137B
uniprot id: O60478
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts also as a negative regulator of osteoclast activity (By similarity). Involved in interleukin-4-induced M2 macrophage polarization (By similarity).
messages: Belongs to the GPR137 family.
messages: Expressed in kidney, heart, brain and placenta.
messages: Interaction with RRAGA; increases RRAGA recruitment to lysosomes (PubMed:31036939). Interacts with MTOR; this interaction is amino acid sensitive (PubMed:31036939).
messages: Lysosomal integral membrane protein that regulates the localization and activity of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:31036939). Interacts with Rag GTPases and increases the lysosomial localization and activity of Rag GTPases and thereby regulates mTORC1 translocation and activity in lysosome (PubMed:31036939). Involved in the regulation of lysosomal morphology and autophagy (PubMed:31036939).
messages: Lysosome membrane

9606:FGF22
gene id: 9606:FGF22
uniprot id: A0A7U3JVZ9
uniprot id: K7ELB9
uniprot id: Q9HCT0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the heparin-binding growth factors family.
messages: Interacts with FGFR1 and FGFR2. Interacts with FGFBP1.
messages: Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development.
messages: Secreted

9606:RCC1
gene id: 9606:RCC1
uniprot id: P18754
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Chromosome
messages: Cytoplasm
messages: Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:1944575, PubMed:17435751, PubMed:20668449, PubMed:22215983, PubMed:11336674). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580).
messages: Interacts with RAN (PubMed:17435751, PubMed:18762580, PubMed:29040603, PubMed:11336674). Interacts (via N-terminus and RCC1 repeats) with KPNA4 (PubMed:29042532). Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation (PubMed:16820410).
messages: N-terminal methylation by METTL11A/NTM1 is required for binding double-stranded DNA and stable chromatin association. Di- and trimethylation produce a permanent positive charge on the amino group, which facilitates electrostatic binding to the phosphate groups on DNA, while inhibiting histone-binding. Methylated tail helps retain RCC1 on chromosomes during nucleotide exchange on Ran.
messages: Nucleus
messages: Patients with Raynaud disease produce antibodies that bind to RCC1.

9606:PPP1R3B
gene id: 9606:PPP1R3B
uniprot id: Q86XI6
names: Domain
names: Function
names: Subunit
names: Tissue Specificity
messages: Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity).
messages: Highly expressed in the liver and, at lower levels, in skeletal muscle, including in vastus lateralis, gastrocnemius and soleus (at protein level). Highest mRNA levels are observed in skeletal muscle, and only moderate levels in liver and heart. Weak expression in placenta and lung.
messages: Interacts with glycogen, PPP1CC catalytic subunit of PP1 and PYGL. Associates with glycogen particles. Forms complexes with debranching enzyme, glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity (By similarity).
messages: The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C-terminal region is required for binding to PYGL.

9606:PUS7L
gene id: 9606:PUS7L
uniprot id: Q9H0K6
names: Function
names: Sequence Caution
names: Similarity
messages: Belongs to the pseudouridine synthase TruD family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Pseudouridine synthase that catalyzes pseudouridylation of mRNAs.

9606:USP5
gene id: 9606:USP5
uniprot id: A0A140VJZ1
uniprot id: P45974
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subunit
messages: Belongs to the peptidase C19 family.
messages: Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored 'Lys-48'-linked polyubiquitin disassembly. Binds linear and 'Lys-63'-linked polyubiquitin with a lower affinity. Knock-down of USP5 causes the accumulation of p53/TP53 and an increase in p53/TP53 transcriptional activity because the unanchored polyubiquitin that accumulates is able to compete with ubiquitinated p53/TP53 but not with MDM2 for proteasomal recognition.
messages: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.
messages: Interacts with TRIML1.
messages: The UBP-type zinc finger domain crystallizes as a dimer linked by a disulfide bond between the Cys-195 residues of both molecules, but there is no evidence that the full-length USP5 exists as a dimer.
messages: The UBP-type zinc finger domain interacts selectively with an unmodified C-terminus of the proximal ubiquitin. Both UBA domains are involved in polyubiquitin recognition.

9606:COQ4
gene id: 9606:COQ4
uniprot id: Q9Y3A0
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the COQ4 family.
messages: Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.
messages: Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.
messages: Expressed ubiquitously, but at high levels in liver, lung and pancreas.
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MCUB
gene id: 9606:MCUB
uniprot id: Q9NWR8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MCU (TC 1.A.77) family.
messages: Heterooligomer with MCU; this reduces MCU channel activity. Homooligomer (By similarity). Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1.
messages: Mitochondrion inner membrane
messages: Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways.

9606:MXRA7
gene id: 9606:MXRA7
uniprot id: P84157
names: Subcellular Location Annotation
messages: Membrane

9606:ATP2A2
gene id: 9606:ATP2A2
uniprot id: A0A0S2Z3L2
uniprot id: P16615
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
messages: Ca(2+) and ATP binding cause major rearrangements of the cytoplasmic and transmembrane domains. According to the E1-E2 model, Ca(2+) binding to the cytosolic domain of the pump in the high-affinity E1 conformation is followed by the ATP-dependent phosphorylation of the active site Asp, giving rise to E1P. A conformational change of the phosphoenzyme gives rise to the low-affinity E2P state that exposes the Ca(2+) ions to the lumenal side and promotes Ca(2+) release. Dephosphorylation of the active site Asp mediates the subsequent return to the E1 conformation.
messages: Cardiac/slow twitch, muscle specific isoform. Has a lower affinity for calcium and a higher catalytic turnover rate.
messages: Endoplasmic reticulum membrane
messages: Has different conformational states with differential Ca2+ affinity. The E1 conformational state (active form) shows high Ca(2+) affinity, while the E2 state exhibits low Ca(2+) affinity. Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Inhibited by sarcolipin (SLN) and myoregulin (MRLN). The inhibition is blocked by VMP1 (PubMed:28890335). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). Stabilizes SERCA2 in its E2 state (PubMed:28890335).
messages: Interacts with TRAM2 (via C-terminus).
messages: Interacts with sarcolipin (SLN); the interaction inhibits ATP2A2 Ca(2+) affinity (PubMed:28890335). Interacts with phospholamban (PLN); the interaction inhibits ATP2A2 Ca(2+) affinity (PubMed:28890335). Interacts with myoregulin (MRLN) (By similarity). Interacts with DWORF (By similarity). Interacts with HAX1 (PubMed:18971376). Interacts with S100A8 and S100A9 (By similarity). Interacts with SLC35G1 and STIM1 (PubMed:22084111). Interacts with TMEM203 (PubMed:25996873). Interacts with TMEM64 and PDIA3 (By similarity). Interacts with TMX2. Interacts with VMP1; VMP1 competes with PLN and SLN to prevent them from forming an inhibitory complex with ATP2A2 (PubMed:28890335). Interacts with ULK1 (PubMed:28890335). Interacts with S100A1 in a Ca(2+)-dependent manner (PubMed:12804600). Interacts with TUNAR (By similarity).
messages: Involved in the regulation of the contraction/relaxation cycle. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca(2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca(2+) signaling cascades that promote osteoclast differentiation and activation.
messages: Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and placenta. Also expressed at lower levels in heart and skeletal muscle. Isoforms 2 and 3 are highly expressed in the heart and slow twitch skeletal muscle. Expression of isoform 3 is predominantly restricted to cardiomyocytes and in close proximity to the sarcolemma. Both isoforms are mildly expressed in lung, kidney, liver, pancreas and placenta. Expression of isoform 3 is amplified during monocytic differentiation and also observed in the fetal heart.
messages: May be due to intron retention. Shows a lower apparent affinity for cytosolic calcium than isoform 2 and a catalytic turnover rate similar to isoform 1.
messages: Membrane
messages: Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity.
messages: PLN and SLN both have a single transmembrane helix; both occupy a similar binding site that is situated between the ATP2A2 transmembrane helices.
messages: Sarcoplasmic reticulum membrane
messages: Serotonylated on Gln residues by TGM2 in response to hypoxia, leading to its inactivation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (PubMed:16402920, PubMed:12542527). Involved in autophagy in response to starvation. Upon interaction with VMP1 and activation, controls ER-isolation membrane contacts for autophagosome formation (PubMed:28890335). Also modulates ER contacts with lipid droplets, mitochondria and endosomes (PubMed:28890335).
messages: Ubiquitous housekeeping isoform.

9606:NUP188
gene id: 9606:NUP188
uniprot id: Q5SRE5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Nup188 family.
messages: Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope (Probable). Required for proper protein transport into the nucleus (PubMed:32275884).
messages: Copy number variations of NUP188 gene may be a cause of heterotaxy, a congenital heart disease resulting from abnormalities in left-right (LR) body patterning.
messages: Part of the nuclear pore complex (NPC).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nuclear pore complex

9606:SLC10A7
gene id: 9606:SLC10A7
uniprot id: Q0GE19
names: Developmental Stage
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.
messages: Cell membrane
messages: Detected in the heart and vertebrae in embryos at 8 weeks of gestation (Carnegie stage 16), and in the long-bone cartilage at 9 weeks (Carnegie stages 19).
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Involved in teeth and skeletal development. Has an essential role in the biosynthesis and trafficking of glycosaminoglycans and glycoproteins, to produce a proper functioning extracellular matrix. Required for extracellular matrix mineralization (PubMed:30082715, PubMed:29878199). Also involved in the regulation of cellular calcium homeostasis (PubMed:30082715, PubMed:31191616). Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed (PubMed:15932064, PubMed:17628207). Expressed at high levels in liver and at lower levels in prostate, placenta, kidney, heart, lung, thymus and spleen (PubMed:15932064, PubMed:17628207). Strongly expressed in testis and also detected in brain, ovary, colon and small intestine (PubMed:17628207). Weakly expressed in testis and not detected in brain, ovary, colon or small intestine (PubMed:15932064). Isoform 1: Expressed in liver, testis and placenta (PubMed:17628207). Isoform 4: Expressed in liver, testis and placenta (PubMed:17628207).

9606:MEDAG
gene id: 9606:MEDAG
uniprot id: Q5VYS4
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: Highly expressed in the visceral fat depot.
messages: Involved in processes that promote adipocyte differentiation, lipid accumulation, and glucose uptake in mature adipocytes.

9606:BCL7A
gene id: 9606:BCL7A
uniprot id: Q4VC05
names: Disease Annotation
names: Similarity
messages: Belongs to the BCL7 family.
messages: Chromosomal aberrations involving BCL7A may be a cause of B-cell non-Hodgkin lymphoma. Three-way translocation t(8;14;12)(q24.1;q32.3;q24.1) with MYC and with immunoglobulin gene regions.

9606:OMG
gene id: 9606:OMG
uniprot id: P23515
names: Caution
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds to RTN4R.
messages: Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system.
messages: Cell membrane
messages: Do not confuse oligodendrocyte-myelin glycoprotein (OMG) with myelin-oligodendrocyte glycoprotein (MOG).
messages: O-glycosylated in its Ser/Thr-rich repeat domain.
messages: Oligodendrocytes and myelin of the central nervous system.

9606:PIM3
gene id: 9606:PIM3
uniprot id: Q86V86
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PIM subfamily.
messages: Cytoplasm
messages: Detected in various tissues, including the heart, brain, lung, kidney, spleen, placenta, skeletal muscle, and peripheral blood leukocytes. Not found or barely expressed in the normal adult endoderm-derived organs such as colon, thymus, liver, or small intestine. However, expression is augmented in premalignant and malignant lesions of these organs.
messages: Interacts with BAD. Interacts with PPP2CA; this interaction promotes dephosphorylation of PIM3, ubiquitination and proteasomal degradation. Interacts with SOCS6 (By similarity).
messages: Phosphorylated. Interaction with PPP2CA promotes dephosphorylation.
messages: Proto-oncogene with serine/threonine kinase activity that can prevent apoptosis, promote cell survival and protein translation. May contribute to tumorigenesis through: the delivery of survival signaling through phosphorylation of BAD which induces release of the anti-apoptotic protein Bcl-X(L), the regulation of cell cycle progression, protein synthesis and by regulation of MYC transcriptional activity. Additionally to this role on tumorigenesis, can also negatively regulate insulin secretion by inhibiting the activation of MAPK1/3 (ERK1/2), through SOCS6. Involved also in the control of energy metabolism and regulation of AMPK activity in modulating MYC and PPARGC1A protein levels and cell growth.
messages: Ubiquitinated, leading to proteasomal degradation.

9606:TEDC1
gene id: 9606:TEDC1
uniprot id: Q86SX3
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Acts as a positive regulator of ciliary hedgehog signaling. Required for centriole stability (By similarity). May play a role in counteracting perturbation of actin filaments, such as after treatment with the actin depolymerizing microbial metabolite Chivosazole F (PubMed:28796488).
messages: Interacts with TEDC2. Found in a complex with TEDC1, TEDC2, TUBE1 and TUBD1.
messages: centriole
messages: cilium

9606:PIK3R3
gene id: 9606:PIK3R3
uniprot id: B4DXM8
uniprot id: Q68CY7
uniprot id: Q7Z3W2
uniprot id: Q8N381
uniprot id: Q92569
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the PI3K p85 subunit family.
messages: Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1.
messages: Heterodimer of a regulatory subunit PIK3R3 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD). Interacts with AXL.
messages: Highest levels in brain and testis. Lower levels in adipose tissue, kidney, heart, lung and skeletal muscle.

9606:EMSY
gene id: 9606:EMSY
uniprot id: Q7Z589
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Defects in EMSY may be a cause of sporadic breast cancer and higher-grade ovarian cancers. Overexpressed through amplification almost exclusively in sporadic breast cancer (13%) and higher-grade ovarian cancer (17%). Amplification is associated with worse survival, particularly in node-negative breast cancer, suggesting that it may be of prognostic value.
messages: Homodimer (PubMed:15978617). Interacts with the transactivation domain of BRCA2 (PubMed:14651845). Interacts with CBX1 (via chromoshadow domain) (PubMed:14651845, PubMed:16615912). Interacts with ZMYND11 (PubMed:14651845, PubMed:15947784). Does not interact with CBX3 or CBX5 (PubMed:14651845). Component of a nuclear receptor-mediated transcription complex composed of at least ZNF335, CCAR2 and EMSY; the complex stimulates the transcription of nuclear receptor target genes such as SOX9 and HOXA1 (PubMed:19131338). Within the complex interacts with CCAR2 and ZNF335 (PubMed:19131338). Components of this complex may associate with components of a histone methylation complex to form a complex at least composed of ZNF335, HCFC1, CCAR2, EMSY, MKI67, RBBP5, ASH2L and WDR5 (PubMed:19131338). Within this complex, interacts with ASH2L and RBBP5 (PubMed:19131338).
messages: Nucleus
messages: O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status.
messages: Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin (PubMed:14651845). Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (PubMed:14651845). Mediates ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:19131338).
messages: Was named EMSY by PubMed:14651845 because the protein sequence contains the word 'SISTER', after the first author's sister, who is a breast cancer nurse.

9606:PCBD2
gene id: 9606:PCBD2
uniprot id: Q9H0N5
names: Function
names: Similarity
names: Subunit
messages: Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
messages: Homotetramer. Interacts with DYRK1B.
messages: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity).
messages: Regulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity.

9606:RBCK1
gene id: 9606:RBCK1
uniprot id: Q9BYM8
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subunit
messages: (Microbial infection) Interacts with S.flexneri E3 ubiquitin-protein ligases IpaH1.4 and IpaH2.5, leading to its ubiquitination.
messages: (Microbial infection) Interacts with hepatitis B virus/HBV protein HBx; this interaction is required to activate transcription of the viral genome.
messages: Auto-ubiquitinated. Auto-ubiquitination leads to degradation by the proteasome (By similarity).
messages: Belongs to the RBR family.
messages: By viral transfection.
messages: Component of the LUBAC complex (linear ubiquitin chain assembly complex) which consists of SHARPIN, RBCK1 and RNF31 (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:28481331, PubMed:22430200). LUBAC has a MW of approximately 600 kDa suggesting a heteromultimeric assembly of its subunits (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181). Interacts with beta-I-type (PRKCB1) and zeta-type protein kinase C (PRKCZ) (By similarity). Interacts with UBE2L3 (By similarity). Interacts with PRKCH (PubMed:9195957). Associates with the TNF-R1 signaling complex (TNF-RSC) in a stimulation-dependent manner (PubMed:20005846). Interacts with EYA1, TAB2, TAB3, MAP3K7 TRAF6 and RIPK1 (PubMed:17449468). Interacts with IRF3 (PubMed:18711448).
messages: E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates (PubMed:12629548, PubMed:17449468, PubMed:18711448). Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination (PubMed:12629548). Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome (PubMed:17449468, PubMed:18711448). Component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:19136968). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:19136968). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181). LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:19136968). The LUBAC complex is also involved in innate immunity by conjugating linear polyubiquitin chains at the surface of bacteria invading the cytosol to form the ubiquitin coat surrounding bacteria (PubMed:28481331). LUBAC is not able to initiate formation of the bacterial ubiquitin coat, and can only promote formation of linear polyubiquitins on pre-existing ubiquitin (PubMed:28481331). The bacterial ubiquitin coat acts as an 'eat-me' signal for xenophagy and promotes NF-kappa-B activation (PubMed:28…
messages: Interacts with IREB2 only in iron-rich conditions.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Phosphorylated. In vitro, phosphorylation inhibits auto-ubiquitination activity (By similarity).
messages: The RanBP2-type zinc finger, also called Npl4 zinc finger (NZF), mediates binding to 'Met-1'-linked polyubiquitins.
messages: The UBL domain mediates association with RNF31 via interaction with its UBA domain.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TUBA1C
gene id: 9606:TUBA1C
uniprot id: B7Z1K5
uniprot id: F5H5D3
uniprot id: Q9BQE3
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.
messages: Belongs to the tubulin family.
messages: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).
messages: Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells.
messages: Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.
messages: Nitration of Tyr-449 is irreversible and interferes with normal dynein intracellular distribution.
messages: Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into cilia and flagella axonemes, which is required for their stability and maintenance. Flagella glycylation controls sperm motility. Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally.
messages: Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Glutamylation is also involved in cilia motility (By similarity).
messages: The MREC motif may be critical for tubulin autoregulation.
messages: Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.
messages: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).
messages: Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (KIAA0895L/MATCAP, VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively.
messages: cytoskeleton

9606:PLA2G7
gene id: 9606:PLA2G7
uniprot id: Q13093
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the AB hydrolase superfamily. Lipase family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Lipoprotein-associated calcium-independent phospholipase A2 involved in phospholipid catabolism during inflammatory and oxidative stress response (PubMed:7700381, PubMed:8624782, PubMed:2040620, PubMed:16371369, PubMed:17090529, PubMed:10066756). At the lipid-aqueous interface, hydrolyzes the ester bond of fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity) (PubMed:2040620, PubMed:10504265). Specifically targets phospholipids with a short-chain fatty acyl group at sn-2 position (PubMed:2040620). Can hydrolyze phospholipids with long fatty acyl chains, only if they carry oxidized functional groups (PubMed:2040620, PubMed:8624782). Hydrolyzes and inactivates platelet-activating factor (PAF, 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine), a potent pro-inflammatory signaling lipid that acts through PTAFR on various innate immune cells (PubMed:10504265, PubMed:10066756, PubMed:7592717, PubMed:11590221, PubMed:7700381, PubMed:18434304, PubMed:16371369, PubMed:8675689, PubMed:8624782). Hydrolyzes oxidatively truncated phospholipids carrying an aldehyde group at omega position, preventing their accumulation in low-density lipoprotein (LDL) particles and uncontrolled pro-inflammatory effects (PubMed:2040620, PubMed:7700381). As part of high-density lipoprotein (HDL) particles, can hydrolyze phospholipids having long-chain fatty acyl hydroperoxides at sn-2 position and protect against potential accumulation of these oxylipins in the vascular wall (PubMed:17090529). Catalyzes the release from membrane phospholipids of F2-isoprostanes, lipid biomarkers of cellular oxidative damage (PubMed:16371369).
messages: N-glycosylated. Macrophage-derived PLA2G7 carries sialylated complex-type N-glycans that hinder its binding to HDL particles.
messages: Plasma (PubMed:11590221, PubMed:12821559). Secreted by macrophages (at protein level) (PubMed:11590221).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated upon monocyte differentiation toward macrophage lineage.
messages: extracellular space

9606:CA10
gene id: 9606:CA10
uniprot id: A0A384MTY8
uniprot id: Q9NS85
names: Developmental Stage
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the alpha-carbonic anhydrase family.
messages: Does not have a catalytic activity.
messages: Not expressed in fetal brain.
messages: Strong expression in brain and central nervous system.

9606:FAF1
gene id: 9606:FAF1
uniprot id: Q9UNN5
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with CDT1 and ATPase VCP/p97 (PubMed:26842564). Interacts (via UBA domain) with FAS (via death domain) (PubMed:10462485). Interacts (via UBA domain) with NLRP12 (via DAPIN/PYRIN domain) (PubMed:21978668).
messages: Most abundant in testis, slightly less abundant in skeletal muscle and heart, followed by prostate, thymus, ovary, small intestine, and colon. Not detected in the peripheral blood leukocytes.
messages: Nucleus
messages: Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity).

9606:TAF9B
gene id: 9606:TAF9B
uniprot id: Q9HBM6
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TAF9 family.
messages: Binds TAF5 and TAF6. Component of TFIID and the TATA-binding protein-free TAF complex (TFTC). TFIID is composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). Binds N-terminal domain of p53/TP53 which is essential for transcription.
messages: Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription.
messages: Nucleus

9606:METAP2
gene id: 9606:METAP2
uniprot id: A0A140VJE3
uniprot id: F8VQZ7
uniprot id: P50579
names: Cofactor
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peptidase M24A family. Methionine aminopeptidase eukaryotic type 2 subfamily.
messages: Binds 2 divalent metal cations per subunit. Has a high-affinity and a low affinity metal-binding site. The true nature of the physiological cofactor is under debate. The enzyme is active with cobalt, zinc, manganese or divalent iron ions. Most likely, methionine aminopeptidases function as mononuclear Fe(2+)-metalloproteases under physiological conditions, and the catalytically relevant metal-binding site has been assigned to the histidine-containing high-affinity site.
messages: Binds 2 divalent metal cations per subunit. Has a high-affinity and a low affinity metal-binding site. The true nature of the physiological cofactor is under debate. The enzyme is active with cobalt, zinc, manganese or divalent iron ions. Most likely, methionine aminopeptidases function as mononuclear Fe(2+)-metalloproteases under physiological conditions, and the catalytically relevant metal-binding site has been assigned to the histidine-containing high-affinity site. Also manganese has been proposed to be the physiological cofactor for human METAP2.
messages: Binds EIF2S1 at low magnesium concentrations. Interacts strongly with the eIF-2 gamma-subunit EIF2S3.
messages: Contains approximately 12 O-linked N-acetylglucosamine (GlcNAc) residues. O-glycosylation is required for EIF2S1 binding.
messages: Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val).
messages: Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). The catalytic activity of human METAP2 toward Met-Val peptides is consistently two orders of magnitude higher than that of METAP1, suggesting that it is responsible for processing proteins containing N-terminal Met-Val and Met-Thr sequences in vivo.
messages: Cytoplasm
messages: Interacts strongly with the eIF-2 gamma-subunit EIF2S3 (By similarity). Binds EIF2S1 at low magnesium concentrations.
messages: Protects eukaryotic initiation factor EIF2S1 from translation-inhibiting phosphorylation by inhibitory kinases such as EIF2AK2/PKR and EIF2AK1/HCR. Plays a critical role in the regulation of protein synthesis.

9606:PTPRE
gene id: 9606:PTPRE
uniprot id: A8K2Z9
uniprot id: P23469
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A catalytically active cytoplasmic form (p65) is produced by proteolytic cleavage of either isoform 1, isoform 2 or isoform 3.
messages: Belongs to the protein-tyrosine phosphatase family. Receptor class 4 subfamily.
messages: Cell membrane
messages: Contaminating sequence. Sequence of unknown origin in the C-terminal part.
messages: Cytoplasm
messages: Expressed in giant cell tumor (osteoclastoma rich in multinucleated osteoclastic cells).
messages: Isoform 1 and isoform 2 act as a negative regulator of FceRI-mediated signal transduction leading to cytokine production and degranulation, most likely by acting at the level of SYK to affect downstream events such as phosphorylation of SLP76 and LAT and mobilization of Ca(2+).
messages: Isoform 1 and isoform 2 are phosphorylated on tyrosine residues by tyrosine kinase Neu.
messages: Isoform 1 is glycosylated.
messages: Isoform 1 plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity).
messages: Isoform 2 acts as a negative regulator of insulin receptor (IR) signaling in skeletal muscle. Regulates insulin-induced tyrosine phosphorylation of insulin receptor (IR) and insulin receptor substrate 1 (IRS-1), phosphorylation of protein kinase B and glycogen synthase kinase-3 and insulin induced stimulation of glucose uptake (By similarity).
messages: Membrane
messages: Monomer. Isoform 2: Homodimer. Can form oligomers. Dimerization is increased by oxidative stress and decreased by EGFR. Isoform 2 interacts with GRB2 (By similarity).
messages: Produced by alternative initiation at Met-86 of isoform 1.
messages: Produced by alternative promoter usage.
messages: The tyrosine-protein phosphatase 2 domain (D2) mediates dimerization. The extreme N- and C- termini of the D2 domain act to inhibit dimerization and removal of these sequences increases dimerization and inhibits enzyme activity (By similarity).
messages: Up-regulated by 12-O-tetradecanoylphorbol-13-acetate (TPA) in HL-60 cells.

9606:ATP10A
gene id: 9606:ATP10A
uniprot id: O60312
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylated at the conserved aspartate of the P-type ATPase signature sequence.
messages: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
messages: Catalytic component of P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of phosphatidylcholine (PC) from the outer to the inner leaflet of the plasma membrane (PubMed:25947375, PubMed:29599178, PubMed:30530492). Initiates inward plasma membrane bending and recruitment of Bin/amphiphysin/Rvs (BAR) domain-containing proteins involved in membrane tubulation and cell trafficking (PubMed:29599178). Facilitates ITGB1/beta1 integrin endocytosis, delaying cell adhesion and cell spreading on extracellular matrix (PubMed:29599178, PubMed:25947375). Has low flippase activity toward glucosylceramide (GlcCer) (PubMed:30530492).
messages: Cell membrane
messages: Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit ATP10A and an accessory beta subunit TMEM30A.
messages: Endoplasmic reticulum membrane
messages: Inhibited under hypotonic conditions.
messages: Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.

9606:ZNF225
gene id: 9606:ZNF225
uniprot id: Q9UK10
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:TMEM59L
gene id: 9606:TMEM59L
uniprot id: A0A024R7L4
uniprot id: Q9UK28
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TMEM59 family.
messages: Expressed preferentially at high level in the brain.
messages: Golgi apparatus membrane
messages: Membrane
messages: Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of APP. Inhibits APP transport to the cell surface and further shedding.

9606:NECAB3
gene id: 9606:NECAB3
uniprot id: Q96P71
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Golgi apparatus
messages: Inhibits the interaction of APBA2 with amyloid-beta precursor protein (APP), and hence allows formation of amyloid-beta. May enhance the activity of HIF1A and thus promote glycolysis under normoxic conditions; the function requires its ABM domain and may implicate the stabilization of the interaction between HIF1AN and APBA3.
messages: Interacts with the N-terminal domain of APBA2. Interacts with NEK2. Interacts with APBA3; APBA3 seems to mediate the interaction between NECAB3 and HIF1AN.
messages: May result from the retention of an intron in the cDNA.
messages: Phosphorylated by NEK2.
messages: Strongly expressed in heart and skeletal muscle, moderately in brain and pancreas.

9606:WFIKKN1
gene id: 9606:WFIKKN1
uniprot id: Q96NZ8
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the WFIKKN family.
messages: Expressed in pancreas, kidney, liver, placenta, and lung.
messages: Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity (By similarity).
messages: Secreted
messages: The second BPTI/Kunitz inhibitor domain is able to inhibit trypsin. It has however no activity toward chymotrypsin, elastase, plasmin, pancreatic kallikrein, lung tryptase, plasma kallikrein, thrombin, urokinase or tissue plasminogen activator.

9606:ZNF292
gene id: 9606:ZNF292
uniprot id: O60281
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: May be involved in transcriptional regulation.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:OTP
gene id: 9606:OTP
uniprot id: Q5XKR4
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the paired homeobox family. Bicoid subfamily.
messages: Nucleus
messages: Present in fetal hypothalamus at 19 weeks of gestation (at protein level).
messages: Probably involved in the differentiation of hypothalamic neuroendocrine cells.

9606:MPDU1
gene id: 9606:MPDU1
uniprot id: A0A0S2Z4W8
uniprot id: B4DLH7
uniprot id: J3QW43
uniprot id: O75352
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the MPDU1 (TC 2.A.43.3) family.
messages: Membrane
messages: Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MYBBP1A
gene id: 9606:MYBBP1A
uniprot id: Q9BQG0
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the MYBBP1A family.
messages: Binds to and represses JUN and MYB via the leucine zipper regions present in these proteins. Also binds to and represses PPARGC1A: this interaction is abrogated when PPARGC1A is phosphorylated by MAPK1/ERK. Binds to and stimulates transcription by AHR. Binds to KPNA2. Interacts with CLOCK and CRY1 (By similarity). Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21.
messages: Citrullinated by PADI4.
messages: Cytoplasm
messages: May activate or repress transcription via interactions with sequence specific DNA-binding proteins (By similarity). Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2 (By similarity). Preferentially binds to dimethylated histone H3 'Lys-9' (H3K9me2) on the PER2 promoter (By similarity). Has a role in rRNA biogenesis together with PWP1 (PubMed:29065309).
messages: May be due to competing donor and acceptor splice sites.
messages: Nucleus
messages: nucleolus

9606:RRAGA
gene id: 9606:RRAGA
uniprot id: Q7L523
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with adenovirus E3 14.7 kDa protein.
messages: (Microbial infection) May alternatively act as a cellular target for adenovirus E3-14.7K, an inhibitor of TNF-alpha functions, thereby affecting cell death.
messages: Belongs to the GTR/RAG GTP-binding protein family.
messages: Can occur as a homodimer or as a heterodimer with RRAGC or RRAGD in a sequence-independent manner; heterodimerization stabilizes proteins of the heterodimer (PubMed:11073942, PubMed:20381137, PubMed:32868926). In complex with RRAGC, but not with RRAGB, interacts with RPTOR (PubMed:18497260). The GTP-bound form of RRAGA interacts with NOL8 (PubMed:14660641). Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RRAGA/RagA or RRAGB/RagB GDP-bound, RRAGC/RagC or RRAGD/RagD GTP-bound, and Ragulator (PubMed:31704029, PubMed:31672913, PubMed:32868926). Interacts with SH3BP4; the interaction with this negative regulator is most probably direct, preferentially occurs with the inactive GDP-bound form of RRAGA and is negatively regulated by amino acids (PubMed:22575674). The Rag heterodimer interacts with SLC38A9; the probable amino acid sensor (PubMed:25561175, PubMed:25567906, PubMed:32868926). Interacts (inactive GDP-bound form) with RNF152; stimulated by amino acid starvation (PubMed:25936802). Interacts (polyubiquitinated) with the GATOR1 complex; inactivates RRAGA (PubMed:25936802). Interacts (polyubiquitinated) with TSC2 (PubMed:25936802). Interacts with SESN1, SESN2 and SESN3 (PubMed:25259925). Interacts with PIP4P1 (By similarity). Interacts with GPR137B (PubMed:31036939). The Rag heterodimer interacts with the Ragulator complex (PubMed:32868926).
messages: Cytoplasm
messages: Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade (PubMed:20381137, PubMed:24095279, PubMed:25936802). Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form (PubMed:20381137, PubMed:24095279, PubMed:25936802, PubMed:32868926). In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:20381137, PubMed:25936802). Involved in the RCC1/Ran-GTPase pathway (PubMed:9394008). May play a direct role in a TNF-alpha signaling pathway leading to induction of cell death (PubMed:8995684).
messages: Lysosome
messages: Nucleus
messages: The activation of GTP-binding proteins is generally mediated by a guanine exchange factor (GEF), while inactivation through hydrolysis of bound GTP is catalyzed by a GTPase activating protein (GAP) (PubMed:25936802). The GATOR1 complex functions as a GAP and stimulates RRAGA GTPase activity to turn it into its inactive GDP-bound form (PubMed:25936802, PubMed:23723238).
messages: Ubiquitinated. 'Lys-68'-linked polyubiquitination of the GDP-bound inactive form of RRAGA by RNF152 is increased in response to amino acid starvation. Polyubiquitination promotes interaction with the GATOR1 complex. This does not affect RRAGA degradation.
messages: Ubiquitously expressed with highest levels of expression in skeletal muscle, heart, and brain.

9606:FBXO25
gene id: 9606:FBXO25
uniprot id: A0A024QZ88
uniprot id: Q8TCJ0
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving FBXO25 is a cause of X-linked intellectual disability (XLID). Translocation t(X;8)(p11.22;p23.3) with SHROOM4.
messages: Expressed in all brain tissue observed.
messages: Nucleus
messages: Part of a SCF (SKP1-cullin-F-box) protein ligase complex consisting of FBXO25, SKP1, CUL1 and RBX1. Interacts directly with SKP1 and CUL1. Interacts (via C-terminus) with beta-actin (via N-terminus).
messages: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) (By similarity).
messages: The F-box is necessary for the interaction with SKP1.

9606:KLHL22
gene id: 9606:KLHL22
uniprot id: Q53GT1
names: Disease Annotation
names: Function
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Aberrant splicing.
messages: Component of the BCR(KLHL22) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL22 and RBX1 (PubMed:19995937). Interacts with PLK1 (PubMed:24067371, PubMed:23455478). Interacts with DEPDC5 (via DEP domain); the interaction depends on amino acid availability (PubMed:29769719). Interacts with YWHAE; required for the nuclear localization of KLHL22 upon amino acid starvation (PubMed:29769719).
messages: Defects in KLHL22 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea.
messages: Lysosome
messages: Nucleus
messages: Potential oncogene that is up-regulated in breast cancer cells and promotes tumor growth.
messages: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation. Monoubiquitination of PLK1 does not lead to PLK1 degradation (PubMed:19995937, PubMed:23455478). The BCR(KLHL22) ubiquitin ligase complex is also responsible for the amino acid-stimulated 'Lys-48' polyubiquitination and proteasomal degradation of DEPDC5. Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway. It is therefore an amino acid-dependent activator within the amino acid-sensing branch of the TORC1 pathway, indirectly regulating different cellular processes including cell growth and autophagy (PubMed:29769719).
messages: centrosome
messages: cytosol
messages: spindle

9606:ZNF324
gene id: 9606:ZNF324
uniprot id: O75467
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed at high levels in the spleen, thymus, and PBMC, at low levels in the prostate, ovary, small intestine, colon (mucosal lining), placenta, lung, and pancreas, and very weakly expressed in the liver and kidney.
messages: Induced at the early stage of T cell activation. Regulated at the transcriptional level during the cell cycle. Induced at a maximum level in the S phase.
messages: May be involved in transcriptional regulation. May be involved in regulation of cell proliferation.
messages: Nucleus

9606:KDR
gene id: 9606:KDR
uniprot id: P35968
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HIV-1 Tat.
messages: Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-951 is important for interaction with SH2D2A/TSAD and VEGFA-mediated reorganization of the actin cytoskeleton. Phosphorylation at Tyr-1175 is important for interaction with PLCG1 and SHB. Phosphorylation at Tyr-1214 is important for interaction with NCK1 and FYN. Dephosphorylated by PTPRB. Dephosphorylated by PTPRJ at Tyr-951, Tyr-996, Tyr-1054, Tyr-1059, Tyr-1175 and Tyr-1214.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
messages: Cell junction
messages: Cell membrane
messages: Cytoplasm
messages: Cytoplasmic vesicle
messages: Detected in cornea (at protein level). Widely expressed.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Early endosome
messages: Endoplasmic reticulum
messages: Homodimer in the presence of bound dimeric VEGFA, VEGFC or VEGFD ligands; monomeric in the absence of bound ligands. Can also form heterodimers with FLT1/VEGFR1 and KDR/VEGFR2. Interacts (tyrosine phosphorylated) with LFYN, NCK1, PLCG1. Interacts (tyrosine-phosphorylated active form preferentially) with DAB2IP (via C2 domain and active form preferentially); the interaction occurs at the late phase of VEGFA response and inhibits KDR/VEGFR2 activity. Interacts with SHBSH2D2A/TSAD, GRB2, MYOF, CBL and PDCD6. Interacts (via C-terminus domain) with ERN1 (via kinase domain); the interaction is facilitated in a XBP1 isoform 1- and vascular endothelial growth factor (VEGF)-dependent manner in endothelial cells (PubMed:23529610). Interacts (via juxtamembrane region) with chaperone PDCL3 (via thioredoxin fold region); the interaction leads to increased KDR/VEGFR2 abundance through inhibition of its ubiquitination and degradation (PubMed:23792958, PubMed:26059764). Interacts (tyrosine phosphorylated) with CCDC88A/GIV (via SH2-like region); binding requires autophosphorylation of the KDR/VEGFR2 C-terminal region (PubMed:25187647). Interacts with isoform 2 of BSG (PubMed:25825981).
messages: N-glycosylated.
messages: Nucleus
messages: Plays a major role in tumor angiogenesis. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.
messages: Present in an inactive conformation in the absence of bound ligand. Binding of VEGFA, VEGFC or VEGFD leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by the small molecule PTK inhibitor SU5614 ((3Z)-5-Chloro-3-[(3,5-dimethyl-1H-pyrrol-2-yl)methylene]-1,3-dihydro-2H-indol-2-one). May be regulated by hydrogen sulfide (H(2)S) levels via a H(2)S-sensitive intracellular disulfide bond.
messages: Secreted
messages: The inhibitory disulfide bond between Cys-1024 and Cys-1045 may serve as a specific molecular switch for H(2)S-induced modification that regulates KDR/VEGFR2 function.
messages: The second and third Ig-like C2-type (immunoglobulin-like) domains are sufficient for VEGFC binding.
messages: Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC.
messages: Ubiquitinated. Tyrosine phosphorylation of the receptor promotes its poly-ubiquitination, leading to its degradation via the proteasome or lysosomal proteases.

9606:GCK
gene id: 9606:GCK
uniprot id: P35557
uniprot id: Q53Y25
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the hexokinase family.
messages: Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively) (PubMed:7742312, PubMed:11916951, PubMed:15277402, PubMed:17082186, PubMed:18322640, PubMed:19146401, PubMed:25015100, PubMed:8325892). Compared to other hexokinases, has a weak affinity for D-glucose, and is effective only when glucose is abundant (By similarity). Mainly expressed in pancreatic beta cells and the liver and constitutes a rate-limiting step in glucose metabolism in these tissues (PubMed:18322640, PubMed:25015100, PubMed:8325892, PubMed:11916951, PubMed:15277402). Since insulin secretion parallels glucose metabolism and the low glucose affinity of GCK ensures that it can change its enzymatic activity within the physiological range of glucose concentrations, GCK acts as a glucose sensor in the pancreatic beta cell (By similarity). In pancreas, plays an important role in modulating insulin secretion (By similarity). In liver, helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage (By similarity). Required to provide D-glucose 6-phosphate for the synthesis of glycogen (PubMed:8878425). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:7742312).
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Mitochondrion
messages: Monomer (PubMed:15016359, PubMed:19362831, PubMed:23957911). Interacts with MIDN; the interaction occurs preferentially at low glucose levels and results in inhibition of hexokinase activity (PubMed:24187134). Interacts with GCKR; leading to sequestration in the nucleus (PubMed:10456334).
messages: Nucleus
messages: Subject to allosteric regulation (PubMed:15016359). Low glucose and high fructose-6-phosphate triggers association with the inhibitor GCKR followed by sequestration in the nucleus (PubMed:10456334).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PDHA1
gene id: 9606:PDHA1
uniprot id: A0A024RBX9
uniprot id: P08559
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylation alters the phosphorylation pattern. Deacetylated by SIRT3 (By similarity).
messages: Heterotetramer of two PDHA1 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules.
messages: Mitochondrion matrix
messages: Phosphorylation at Ser-232, Ser-293 and Ser-300 by PDK family kinases inactivates the enzyme; for this phosphorylation at a single site is sufficient. Dephosphorylation at all three sites, i.e. at Ser-232, Ser-293 and Ser-300, is required for reactivation.
messages: Pyruvate dehydrogenase activity is inhibited by phosphorylation of PDHA1; it is reactivated by dephosphorylation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.
messages: Ubiquitous.

9606:POLR1B
gene id: 9606:POLR1B
uniprot id: B7Z1W6
uniprot id: Q9H9Y6
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RNA polymerase beta chain family.
messages: Chromosome
messages: Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits.
messages: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol I is composed of mobile elements and RPA2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: nucleolus

9606:KANK4
gene id: 9606:KANK4
uniprot id: Q5T7N3
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: May be involved in the control of cytoskeleton formation by regulating actin polymerization.
messages: Strongly expressed in colon, liver, lung, skeletal muscle and kidney.

9606:SNX14
gene id: 9606:SNX14
uniprot id: A0A804HJ91
uniprot id: Q9Y5W7
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sorting nexin family.
messages: Late endosome membrane
messages: Lysosome membrane
messages: Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25848753, PubMed:25148684).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed both in fetal and adult tissues.
messages: dendrite

9606:VSIG10
gene id: 9606:VSIG10
uniprot id: Q8N0Z9
names: Subcellular Location Annotation
messages: Membrane

9606:AFP
gene id: 9606:AFP
uniprot id: P02771
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ALB/AFP/VDB family.
messages: Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties.
messages: Dimeric and trimeric forms have been found in addition to the monomeric form.
messages: Independent studies suggest heterogeneity of the N-terminal sequence of the mature protein and of the cleavage site of the signal sequence.
messages: Occurs in the plasma of fetuses more than 4 weeks old, reaches the highest levels during the 12th-16th week of gestation, and drops to trace amounts after birth. The serum level in adults is usually less than 40 ng/ml. AFP occurs also at high levels in the plasma and ascitic fluid of adults with hepatoma.
messages: Plasma. Synthesized by the fetal liver and yolk sac.
messages: Secreted
messages: Sulfated.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ABCA6
gene id: 9606:ABCA6
uniprot id: Q8N139
names: Developmental Stage
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ABC transporter superfamily. ABCA family.
messages: Expressed in fetal kidney, lung and liver.
messages: Golgi apparatus membrane
messages: Probable transporter which may play a role in macrophage lipid transport and homeostasis.
messages: Up-regulated during monocyte differentiation into macrophages (PubMed:10639163). Down-regulated by cholesterol loading of macrophages (PubMed:10639163, PubMed:24028821).
messages: Widely expressed with higher expression in liver.

9606:KIAA0319L
gene id: 9606:KIAA0319L
uniprot id: Q8IZA0
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis system.
messages: (Microbial infection) Interacts with AAV-2 VP1.
messages: Cell membrane
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Cytoplasmic granule membrane
messages: Expressed in cortical neurons in the brain cortex (at protein level).
messages: Golgi apparatus membrane
messages: Interacts with RTN4R.
messages: N-glycosylated.
messages: Possible role in axon guidance through interaction with RTN4R.
messages: trans-Golgi network membrane

9606:PTPN4
gene id: 9606:PTPN4
uniprot id: P29074
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with attenuated rabies virus protein G; this interaction is required for virally-induced apoptosis.
messages: Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
messages: Cell membrane
messages: Cleaved and activated by calpain I/CAPN1.
messages: Cytoplasm
messages: Highly phosphorylated on serine and threonine residues but not on tyrosines.
messages: Interacts with MAPK12 (via C-terminus); this interaction abolishes PTPN4 catalytic autoinhibition and thus activates the phosphatase activity.
messages: Phosphatase that plays a role in immunity, learning, synaptic plasticity or cell homeostasis (PubMed:25825441, PubMed:27246854). Regulates neuronal cell homeostasis by protecting neurons against apoptosis (PubMed:20086240). Negatively regulates TLR4-induced interferon beta production by dephosphorylating adapter TICAM2 and inhibiting subsequent TRAM-TRIF interaction (PubMed:25825441). Dephosphorylates also the immunoreceptor tyrosine-based activation motifs/ITAMs of the TCR zeta subunit and thereby negatively regulates TCR-mediated signaling pathway (By similarity). May act at junctions between the membrane and the cytoskeleton.
messages: cytoskeleton

9606:PPBP
gene id: 9606:PPBP
uniprot id: P02775
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the intercrine alpha (chemokine CxC) family.
messages: Beta-thromboglobulin is a homotetramer.
messages: LA-PF4 stimulates DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by human synovial cells. NAP-2 is a ligand for CXCR1 and CXCR2, and NAP-2, NAP-2(73), NAP-2(74), NAP-2(1-66), and most potent NAP-2(1-63) are chemoattractants and activators for neutrophils. TC-1 and TC-2 are antibacterial proteins, in vitro released from activated platelet alpha-granules. CTAP-III(1-81) is more potent than CTAP-III desensitize chemokine-induced neutrophil activation.
messages: NAP-2(1-66) is produced by proteolytical processing, probably after secretion by leukocytes other than neutrophils.
messages: NAP-2(73) and NAP-2(74) seem not be produced by proteolytical processing of secreted precursors but are released in an active form from platelets.
messages: Proteolytic removal of residues 1-13 produces the active peptide beta-thromboglobulin, which is released from platelets along with platelet factor 4 and platelet-derived growth factor.
messages: Proteolytic removal of residues 1-9 produces the active peptide connective tissue-activating peptide III (CTAP-III) (low-affinity platelet factor IV (LA-PF4)).
messages: Secreted

9606:CD99L2
gene id: 9606:CD99L2
uniprot id: A0A024RC16
uniprot id: Q8TCZ2
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CD99 family.
messages: Cell junction
messages: Cell membrane
messages: Expressed in many tissues, with low expression in thymus.
messages: O-glycosylated.
messages: Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity).

9606:ANKRD13A
gene id: 9606:ANKRD13A
uniprot id: Q3ZTS7
uniprot id: Q8IZ07
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Cell membrane
messages: Endosome
messages: Interacts (via the UIM 3 and 4 repeats) with EGFR (ubiquitinated); the interaction is direct, inhibited by ANKRD13A monoubiquitination and may regulate EGFR internalization.
messages: Late endosome
messages: Membrane
messages: Monoubiquitinated, inhibits interaction with ubiquitinated EGFR.
messages: The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and 'Lys-63'-linked ubiquitin.
messages: Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.

9606:PDZD8
gene id: 9606:PDZD8
uniprot id: Q8NEN9
names: Caution
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HIV-1 Gag polyprotein p55.
messages: (Microbial infection) Was initially reported to enhance infectivity of retroviruses, such as HIV-1, by stabilizing the capsid of retroviruses (PubMed:20573829, PubMed:24554657). However, it was later shown that PDZD8 is not absolutely required for HIV-1 infection, suggesting that its role in retroviral infection is probably indirect (PubMed:25771112).
messages: Endoplasmic reticulum membrane
messages: Interacts with MSN.
messages: Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes (PubMed:29097544). PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer (PubMed:29097544). In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons (PubMed:29097544). Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). May inhibit herpes simplex virus 1 infection at an early stage (PubMed:21549406).
messages: The SMP-LTD domain is a barrel-like domain that binds phospholipids.

9606:DIRAS3
gene id: 9606:DIRAS3
uniprot id: O95661
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. Di-Ras family.
messages: Cell membrane
messages: Expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers.

9606:TBX2
gene id: 9606:TBX2
uniprot id: A0A024QZ86
uniprot id: Q13207
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds DNA as a monomer (PubMed:11111039). Interacts with PML (isoform PML-2, isoform PML-3 and isoform PML-4) (PubMed:22002537).
messages: Expressed in the outflow tract and the atrioventricular canal at embryonic stage 12 and gradually reduced by stage 16 (at protein level).
messages: Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Nucleus
messages: Repression domain 1 (RD1) is involved in transcriptional repression (PubMed:11062467, PubMed:30599067). RD1 is necessary for its interaction with PML (PubMed:22002537).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor which acts as a transcriptional repressor (PubMed:11111039, PubMed:11062467, PubMed:12000749, PubMed:22844464, PubMed:30599067). May also function as a transcriptional activator (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:11111039, PubMed:12000749, PubMed:22844464, PubMed:30599067). Required for cardiac atrioventricular canal formation (PubMed:29726930). May cooperate with NKX2.5 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). May play a role as a positive regulator of TGFB2 expression, perhaps acting in concert with GATA4 in the developing outflow tract myocardium (By similarity). Plays a role in limb pattern formation (PubMed:29726930). Acts as a transcriptional repressor of ADAM10 gene expression, perhaps in concert with histone deacetylase HDAC1 as cofactor (PubMed:30599067). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX3 (By similarity). Required, together with TBX3, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity). Involved in modulating early inner ear development, acting independently of, and also redundantly with TBX3, in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537). Acts as a negative regulator of expression of CDKN1A/p21, IL33 and CCN4; repression of CDKN1A is enhanced in response to UV-induced stress, perhaps as a result of phosphorylation by p38 MAPK (By similarity). Negatively modulates expression of CDKN2A/p14ARF and CDH1/E-cadherin (PubMed:11062467, PubMed:12000749, PubMed:22844464). Plays a role in induction of the epithelial-mesenchymal transition (EMT) (PubMed…

9606:MARCHF8
gene id: 9606:MARCHF8
uniprot id: Q5T0T0
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Broadly expressed. Present in immature dendritic cells (at protein level).
messages: Cytoplasmic vesicle membrane
messages: E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS.
messages: Early endosome membrane
messages: Interacts with CD86.
messages: Lysosome membrane
messages: The RING-CH-type zinc finger domain is required for E3 ligase activity.

9606:FBXO31
gene id: 9606:FBXO31
uniprot id: Q5XUX0
names: Developmental Stage
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the FBXO31 family.
messages: By DNA damage. Increases after UV irradiation, X-ray irradiation, oxidative stress (H(2)O(2)) or addition of the chemotherapeutic DNA-damaging agents etoposide, adriamycin, cisplatin or fluorouracil.
messages: Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor.
messages: Expression is cell-cycle regulated, and peaks at late G2 to early G1 phase (at protein level).
messages: Highly expressed in brain. Expressed at moderate levels in most tissues, except bone marrow.
messages: Part of a SCF (SKP1-cullin-F-box) protein ligase complex.
messages: Phosphorylation at Ser-278 by ATM following gamma-irradiation results in its stabilization.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SLC25A46
gene id: 9606:SLC25A46
uniprot id: B4DY98
uniprot id: Q96AG3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex (PubMed:26168012, PubMed:27390132). May associate with the endoplasmic reticulum membrane protein complex (EMC) (PubMed:27390132).
messages: Belongs to the mitochondrial carrier (TC 2.A.29) family.
messages: Membrane
messages: Mitochondrion outer membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization (PubMed:26168012, PubMed:27543974, PubMed:27390132). May regulate the assembly of the MICOS (mitochondrial contact site and cristae organizing system) complex which is essential to the biogenesis and dynamics of mitochondrial cristae, the inwards folds of the inner mitochondrial membrane (PubMed:27390132). Through its interaction with the EMC (endoplasmic reticulum membrane protein complex), could regulate mitochondrial lipid homeostasis and thereby mitochondrial fission (PubMed:27390132).

9606:GPT
gene id: 9606:GPT
uniprot id: P24298
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.
messages: By glucocorticoids.
messages: Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity).
messages: Cytoplasm
messages: Homodimer.
messages: Liver, kidney, heart, and skeletal muscles. Expressed at moderate levels in the adipose tissue.

9606:NPY
gene id: 9606:NPY
uniprot id: A4D158
uniprot id: P01303
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the NPY family.
messages: NPY is implicated in the control of feeding and in secretion of gonadotrophin-release hormone.
messages: One of the most abundant peptides in the nervous system. Also found in some chromaffin cells of the adrenal medulla.
messages: Secreted
messages: The neuropeptide Y form is cleaved at Pro-30 by the prolyl endopeptidase FAP (seprase) activity (in vitro).
messages: neuronal dense core vesicle

9606:FOXH1
gene id: 9606:FOXH1
uniprot id: O75593
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with the MH2 domains of SMAD2 and SMAD3.
messages: Nucleus
messages: The FM region is required for binding SMAD2/SMAD4 complexes. FM2 is more effective than FM1 and only interacts with phosphorylated SMAD2 that is in an activated SMAD complex (By similarity).
messages: Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element).
messages: Ubiquitous.

9606:DAD1
gene id: 9606:DAD1
uniprot id: P61803
uniprot id: Q53G02
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DAD/OST2 family.
messages: Component of the oligosaccharyltransferase (OST) complex (PubMed:25135935, PubMed:31831667). OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits (PubMed:31831667). STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity).
messages: Component of the oligosaccharyltransferase (OST) complex.
messages: Endoplasmic reticulum membrane
messages: Membrane
messages: Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:22467853, PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes. Loss of the DAD1 protein triggers apoptosis (PubMed:22467853).
messages: Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity.

9606:ZBTB2
gene id: 9606:ZBTB2
uniprot id: Q8N680
names: Function
names: Subcellular Location Annotation
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:ZNF316
gene id: 9606:ZNF316
uniprot id: A6NFI3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:TAF6L
gene id: 9606:TAF6L
uniprot id: A0A024R5A7
uniprot id: A8K0D4
uniprot id: Q9Y6J9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TAF6 family.
messages: Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex (Probable). With TAF5L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state. Functions with MYC to activate target gene expression through RNA polymerase II pause release (By similarity).
messages: Nucleus
messages: The PCAF complex is composed of a number of TBP-associated factors (TAFS), such as TAF5, TAF5L, TAF6, TAF6L, TAF9, TAF10 and TAF12, PCAF, and also PCAF-associated factors (PAFs), such as TADA2L/ADA2, TADA3L/ADA3 and SPT3. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9.

9606:GZF1
gene id: 9606:GZF1
uniprot id: Q9H116
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: By GDNF.
messages: Cytoplasm
messages: Expressed in adult brain, heart, skeletal muscle, kidney and liver. Also detected in fetal brain and kidney, and at lower levels in fetal lung and liver.
messages: Interacts with NCL.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression.
messages: nucleolus
messages: nucleoplasm

9606:WLS
gene id: 9606:WLS
uniprot id: Q5T9L3
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the wntless family.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Early endosome membrane
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Interacts with WNT3A. Interacts with WNT1, WNT3 and WNT5A (By similarity).
messages: N-glycosylated.
messages: Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins (PubMed:34587386). Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:RHEX
gene id: 9606:RHEX
uniprot id: Q6ZWK4
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation (PubMed:25092874).
messages: Cell membrane
messages: Expressed in the proerythroblasts (at protein level) (PubMed:25092874). Expressed strongly in the kidney (PubMed:25092874). Expressed weakly in the pancreas, liver and lung (PubMed:25092874). Expressed strongly in erythroid progenitor cells (EPCs) (PubMed:25092874). Expressed weakly in T-cells and neutrophils (PubMed:25092874).
messages: Interacts with EPOR; this interaction occurs in a erythropoietin (EPO)-dependent manner (PubMed:25092874). Interacts with JAK2; this interaction occurs in a erythropoietin (EPO)-dependent manner (PubMed:25092874). Interacts (via tyrosine-phosphorylated form) with GRB2 (PubMed:25092874).
messages: Phosphorylated. Phosphorylation on Tyr-132 and Tyr-141 occurs in a erythropoietin (EPO)-dependent manner (PubMed:25092874).
messages: Up-regulated during erythroid differentiation (PubMed:25092874).

9606:STON1
gene id: 9606:STON1
uniprot id: B2RB25
uniprot id: Q9Y6Q2
names: Function
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the Stoned B family.
messages: Chimeric cDNA. The in vivo relevance of this transcript of the STON1 and GTF2A1L (AC Q9UNN4) genes creating a chimeric protein of 1182 residues is uncertain.
messages: Cytoplasm
messages: In contrast to other members of the family, it does not contain NPF (Asn-Pro-Phe) sites and thereby does not interact with EPS15, EPS15R and ITSN1.
messages: May be involved in the endocytic machinery.
messages: Membrane
messages: Ubiquitous.

9606:HABP4
gene id: 9606:HABP4
uniprot id: Q5JVS0
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Able to bind hyaluronan. However, its intracellular localization suggests that this interaction may not be relevant in vivo.
messages: Associates with polysomes (PubMed:21771594). Interacts with FMR1 (PubMed:21771594). Interacts with FXR1 and FXR2 (PubMed:21771594). Interacts with CHD3 (via C-terminus) (PubMed:12505151). Interacts (via C-terminus) with RACK1 (PubMed:14699138). Interacts with p53/TP53 (PubMed:16455055). Interacts (via N-terminus) with SRSF9; this interaction is direct (PubMed:19523114). Interacts with SYNCRIP; this interaction is direct (PubMed:19523114). Interacts with MEF2C (via N-terminus); this interaction decreases DNA-binding activity of MEF2C in myocardial cells in response to mechanical stress (PubMed:15862299). Interacts with PRMT1 (via N-terminus) (PubMed:16879614). Interacts with SPIN1 (By similarity).
messages: Cajal body
messages: Cytoplasm
messages: Highly expressed in brain, heart, and kidney, and moderately expressed in skeletal muscle. Also expressed in a variety of tumor cell lines and in activated but not resting leukocytes.
messages: Methylated (PubMed:16879614). Methylation is decreased by phorbol 12-myristate 13-acetate (PMA)-activated PKC, in vitro (PubMed:16879614).
messages: Nucleus
messages: Nucleus speckle
messages: Phosphorylated by phorbol 12-myristate 13-acetate (PMA)-activated PKC isoforms at Thr-354 and Thr-375.
messages: RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation (PubMed:14699138, PubMed:16455055, PubMed:19523114, PubMed:21771594). Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation (PubMed:19523114). Binds (via C-terminus) to poly(U) RNA (PubMed:19523114). Involved in mRNA translation regulation, probably at the initiation step (PubMed:21771594). Seems to play a role in PML-nuclear bodies formation (PubMed:28695742).
messages: Stress granule
messages: The C-terminal region is necessary for nucleus and cytoplasmic localization (PubMed:19523114). The N-terminal region is necessary for nucleus and nuclear bodies localization (PubMed:19523114). Regions containing Arg-Gly-Gly repeats (RGG/RXR-box) may be preferentially methylated by PRMT1 (PubMed:16879614).
messages: The interaction with RACK1 is abolished upon activation of L540 tumor cells with PMA, which results in phosphorylation and exit of HABP4 from the nucleus.
messages: gem
messages: nuclear body
messages: nucleolus
messages: sarcoplasm

9606:FAM193B
gene id: 9606:FAM193B
uniprot id: Q6IPW0
uniprot id: Q96PV7
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the FAM193 family.
messages: Cytoplasm
messages: Isoform 1 is up-regulated in both embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma cell lines.
messages: Nucleus

9606:TNNI3K
gene id: 9606:TNNI3K
uniprot id: Q59H18
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylated.
messages: Based on a naturally occurring readthrough transcript which produces a FPGT-TNNI3K fusion protein.
messages: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
messages: Cytoplasm
messages: Highly expressed in both adult and fetal heart.
messages: Interacts with TNNI3, ACTC1, ACTA1, MYBPC3, AIP, FABP3 and HADHB.
messages: May play a role in cardiac physiology.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CXCL8
gene id: 9606:CXCL8
uniprot id: A0A024RDA5
uniprot id: P10145
names: Function
names: Induction
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Cleaved by group A Streptococcus protease SpyCEP; leading to impaired neutrophil endothelial transmigration and thus increased virulence.
messages: Belongs to the intercrine alpha (chemokine CxC) family.
messages: By ER stress in a DDIT3/CHOP-dependent manner.
messages: Chemotactic factor that mediates inflammatory response by attracting neutrophils, basophils, and T-cells to clear pathogens and protect the host from infection (PubMed:7636208, PubMed:18692776). Also plays an important role in neutrophil activation (PubMed:9623510, PubMed:2145175). Released in response to an inflammatory stimulus, exerts its effect by binding to the G-protein-coupled receptors CXCR1 and CXCR2, primarily found in neutrophils, monocytes and endothelial cells (PubMed:1840701, PubMed:1891716). G-protein heterotrimer (alpha, beta, gamma subunits) constitutively binds to CXCR1/CXCR2 receptor and activation by IL8 leads to beta and gamma subunits release from Galpha (GNAI2 in neutrophils) and activation of several downstream signaling pathways including PI3K and MAPK pathways (PubMed:8662698, PubMed:11971003).
messages: Chimeric cDNA.
messages: Citrullination at Arg-27 prevents proteolysis, and dampens tissue inflammation, it also enhances leukocytosis, possibly through impaired chemokine clearance from the blood circulation.
messages: Homodimer (PubMed:31235521). Dimer formation is disrupted by tick evasin-3 (PubMed:31235521). Interacts with TNFAIP6 (via Link domain); this interaction interferes with chemokine binding to glycosaminoglycans.
messages: Homodimer.
messages: Secreted
messages: Several N-terminal processed forms are produced by proteolytic cleavage after secretion from at least peripheral blood monocytes, leukcocytes and endothelial cells. In general, IL-8(1-77) is referred to as interleukin-8. IL-8(6-77) is the most promiment form.

9606:SMIM4
gene id: 9606:SMIM4
uniprot id: Q8WVI0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with the mitochondrial ribosome (PubMed:34969438). Interacts with BRAWNIN (PubMed:34969438). Interacts with MT-CYB; interacts with newly synthesizes MT-CYB (PubMed:34969438).
messages: Belongs to the SMIM4 family.
messages: Mitochondrial ribosome-associated protein involved in the first steps of cytochrome c oxidase complex (complex IV) assembly.
messages: Mitochondrion inner membrane

9606:FSD1L
gene id: 9606:FSD1L
uniprot id: Q9BXM9
names: Miscellaneous
messages: Due to intron retention.

9606:RPL36AL
gene id: 9606:RPL36AL
uniprot id: Q969Q0
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the eukaryotic ribosomal protein eL42 family.
messages: Cytoplasm
messages: This gene has no introns in its coding regions, and therefore, was most likely produced by retrotransposition of the original X-linked gene during evolution.
messages: Ubiquitously expressed.

9606:AQP12A
gene id: 9606:AQP12A
uniprot id: Q8IXF9
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
messages: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.
messages: Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily.
messages: Membrane
messages: Restricted to the pancreas.

9606:ANP32E
gene id: 9606:ANP32E
uniprot id: B4E0D5
uniprot id: E9PLC4
uniprot id: Q9BTT0
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ANP32 family.
messages: Cytoplasm
messages: Expressed in peripheral blood leukocytes, colon, small intestine, prostate, thymus, spleen, skeletal muscle, liver and kidney.
messages: Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AZ1 from the nucleosome: removes H2A.Z/H2AZ1 from its normal sites of deposition, especially from enhancer and insulator regions. Not involved in deposition of H2A.Z/H2AZ1 in the nucleosome. May stabilize the evicted H2A.Z/H2AZ1-H2B dimer, thus shifting the equilibrium towards dissociation and the off-chromatin state (PubMed:24463511). Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebellar development and synaptogenesis.
messages: Interacts with the importin alpha KPNA1 and KPNA2 (By similarity). Component of a SWR1-like complex, composed of EP400, KAT5/TIP60, TRRAP, BRD8, RUVBL1, RUVBL2, ING3 and ANP32E; the complex does not contain SRCAP. Interacts with H2A.Z/H2AZ1.
messages: Nucleus
messages: Phosphorylated. The phosphorylation is nuclear localization signal (NLS)-dependent (By similarity).
messages: The H2A.Z-interacting domain (ZID) mediates a direct interaction with H2A.Z/H2AZ1.

9606:KLRF1
gene id: 9606:KLRF1
uniprot id: Q9NZS2
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Homodimer.
messages: Involved in the natural killer (NK)-mediated cytolysis of PHA-induced lymphoblasts.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Membrane
messages: Strongly expressed in peripheral blood leukocytes and spleen, with weaker expression in lymph node and adult liver, and no expression detected in bone marrow, thymus, and fetal liver. Not expressed in brain, heart, placenta, lung, kidney, skeletal muscle, and pancreas. Within peripheral blood leukocyte and immunocyte cell lines, expression was predominant in NK cells but was also detected in monocytes.

9606:DBF4
gene id: 9606:DBF4
uniprot id: Q9UBU7
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Forms a complex with CDC7. Note that CDC7 forms distinct complex either with DBF4A or DBF4B. Such complexes are stable upon replication stress. Interacts with MEN1, MCM2, ORC2, ORC4 and ORC6. Interacts (via IBM motifs) with PSIP1 (via IBD domain); phosphorylation increases its affinity for PSIP1 (PubMed:29997176).
messages: Highly expressed in testis and thymus. Expressed also in most cancer cells lines.
messages: Induced in G1 phase at low level, increased during G1-S phase and remain high during S and G2-M phase.
messages: Nucleus
messages: Phosphorylation increases its interaction with PSIP1.
messages: Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7-DBF4A selectively phosphorylates MCM2 subunit at 'Ser-40' and 'Ser-53' and then is involved in regulating the initiation of DNA replication during cell cycle.

9606:GPR161
gene id: 9606:GPR161
uniprot id: A0A0A0MQW8
uniprot id: Q8N6U8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, preventing its activity and allowing activation of the Shh signaling. Its ligand is unknown (By similarity).
messages: cilium membrane

9606:SCN3A
gene id: 9606:SCN3A
uniprot id: Q9C007
uniprot id: Q9NY46
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the sodium channel (TC 1.A.1.10) family.
messages: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.3/SCN3A subfamily.
messages: Cell membrane
messages: Expressed in enterochromaffin cells in both colon and small bowel (at protein level).
messages: Heterooligomer of a large alpha subunit and 2-3 smaller beta subunits. Heterooligomer with SCN2B or SCN4B; disulfide-linked. Interacts with NEDD4L (PubMed:15548568). Interacts with the conotoxin GVIIJ (PubMed:24497506).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: May be ubiquitinated by NEDD4L; which would promote its endocytosis.
messages: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:24157691, PubMed:28235671, PubMed:29466837). May contribute to the regulation of serotonin/5-hydroxytryptamine release by enterochromaffin cells (By similarity). In pancreatic endocrine cells, required for both glucagon and glucose-induced insulin secretion (By similarity).
messages: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.
messages: Membrane
messages: Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.

9606:CTAG1A
gene id: 9606:CTAG1A
uniprot id: P78358
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CTAG/PCC1 family.
messages: Cytoplasm
messages: Expressed in testis and ovary and in a wide variety of cancers. Detected in uterine myometrium. Expressed from 18 weeks until birth in human fetal testis. In the adult testis, is strongly expressed in spermatogonia and in primary spermatocytes, but not in post-meiotic cells or in testicular somatic cells (at protein level).

9606:PCDHGA4
gene id: 9606:PCDHGA4
uniprot id: Q9Y5G9
names: Caution
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: It is uncertain whether Met-1 or Met-32 is the initiator.
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:FOXD2
gene id: 9606:FOXD2
uniprot id: O60548
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Kidney specific.
messages: Nucleus
messages: Probable transcription factor involved in embryogenesis and somatogenesis.

9606:AAK1
gene id: 9606:AAK1
uniprot id: Q2M2I8
names: Activity Regulation
names: Function
names: PTM
names: Pharmaceutical
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) By regulating clathrin-mediated endocytosis, AAK1 plays a role in the entry of hepatitis C virus as well as for the lifecycle of other viruses such as Ebola and Dengue.
messages: Autophosphorylated.
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: By regulating the entry of hepatitis C virus as well as the lifecycle of other viruses such as Ebola and Dengue, AAK1 is a potential drug target for developing antiviral therapies.
messages: Cell membrane
messages: Detected in brain, heart and liver. Isoform 1 is the predominant isoform in brain.
messages: Interacts (via CBD domain) with clathrin (PubMed:17494869, PubMed:14617351). Interacts with AP-2 complex (PubMed:17494869, PubMed:12952931, PubMed:14617351). Interacts with NUMB (PubMed:18657069). Interacts with alpha-adaptin (By similarity). Interacts with EPS15 isoform 2 (PubMed:21464124). Interacts with membrane-bound activated NOTCH1 but not with the inactive full-length form of NOTCH1 (PubMed:21464124). Preferentially interacts with monoubiquitinated activated NOTCH1 compared to the non-ubiquitinated form (PubMed:21464124).
messages: Presynapse
messages: Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis (PubMed:17494869, PubMed:11877457, PubMed:11877461, PubMed:12952931, PubMed:14617351, PubMed:25653444). Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1 (PubMed:17494869). Preferentially, may phosphorylate substrates on threonine residues (PubMed:11877457, PubMed:18657069). Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes (PubMed:12952931). Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes (PubMed:18657069). Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity (PubMed:21464124).
messages: Stimulated by clathrin.
messages: clathrin-coated pit

9606:KRTAP19-5
gene id: 9606:KRTAP19-5
uniprot id: Q3LI72
names: Function
names: Similarity
names: Subunit
messages: Belongs to the KRTAP type 19 family.
messages: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
messages: Interacts with hair keratins.

9606:REEP2
gene id: 9606:REEP2
uniprot id: A8K3D2
uniprot id: Q9BRK0
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DP1 family.
messages: Detected in brain, heart and skeletal muscle, and at low levels in placenta, kidney and pancreas (PubMed:11161817). Expressed in circumvallate papillae (PubMed:16720576).
messages: Interacts with odorant receptor proteins.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SRRT
gene id: 9606:SRRT
uniprot id: Q9BXP5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a mediator between the cap-binding complex (CBC) and the primary microRNAs (miRNAs) processing machinery during cell proliferation. Contributes to the stability and delivery of capped primary miRNA transcripts to the primary miRNA processing complex containing DGCR8 and DROSHA, thereby playing a role in RNA-mediated gene silencing (RNAi) by miRNAs. Binds capped RNAs (m7GpppG-capped RNA); however interaction is probably mediated via its interaction with NCBP1/CBP80 component of the CBC complex. Involved in cell cycle progression at S phase. Does not directly confer arsenite resistance but rather modulates arsenic sensitivity. Independently of its activity on miRNAs, necessary and sufficient to promote neural stem cell self-renewal. Does so by directly binding SOX2 promoter and positively regulating its transcription (By similarity).
messages: Belongs to the ARS2 family.
messages: Cytoplasm
messages: Interacts with NCBP1 and DROSHA (By similarity). Interacts with CASP8AP2 and ERBB4. Interacts with LUZP4. Interacts with NCBP2/CBP20 and NCBP3 (PubMed:26382858). Interacts with MTREX (PubMed:30842217).
messages: Ubiquitously expressed.
messages: nucleoplasm

9606:ZNF107
gene id: 9606:ZNF107
uniprot id: Q9UII5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed in brain, heart, skeletal muscle, kidney and pancreas. Weakly expressed in aorta, liver and lung.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:DCUN1D5
gene id: 9606:DCUN1D5
uniprot id: Q9BTE7
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Contributes to the neddylation of all cullins by transferring NEDD8 from N-terminally acetylated NEDD8-conjugating E2s enzyme to different cullin C-terminal domain-RBX complexes which is necessary for the activation of cullin-RING E3 ubiquitin ligases (CRLs) (PubMed:26906416, PubMed:23201271, PubMed:19617556). May play a role in DNA damage response and may participate in cell proliferation and anchorage-independent cell growth (PubMed:23098533, PubMed:24192928).
messages: Expression is decreased in a time-dependent manner after UVC exposure.
messages: Nucleus
messages: Part of a complex that contains DCUN1D5, CUL1 and RBX1; this interaction is bridged by CUL1 (PubMed:24192928, PubMed:26906416). Interacts (via the DCUN1 domain) with the unneddylated cullins: interacts with CUL1, CUL2, CUL3, CUL4A, CUL4B and CUL5; these interactions promote the cullin neddylation and the identity of the cullin dictates the affinity of the interaction (PubMed:24192928, PubMed:26906416, PubMed:23201271). Interacts (via DCUN1 domain) with UBE2M (N-terminally acetylated form) and probably with UBE2F (N-terminally acetylated form) (PubMed:24192928, PubMed:23201271). May also interact with regulators or subunits of cullin-RING ligases such as RBX1, RNF7, ELOB and DDB1; these interactions are bridged by cullins (PubMed:26906416). Interacts with CAND1; this interaction is bridged by cullins and strongly inhibits the neddylation of cullins. These CAND-cullin-DCNL complexes can only be neddylated in the presence of a substrate adapter (PubMed:24192928, PubMed:26906416).
messages: Phosphorylation at Ser-41 is independent of cullin's interaction and neddylation. Phosphorylated in response to both TICAM1 and MYD88 dependent Toll-like receptor (TLR) pathway activation (By similarity). Phosphorylated in response to IL1B stimulation (PubMed:29958295).
messages: The DCUN1 domain, also known as PONY domain, mediates the interaction with different cullins (PubMed:23201271, PubMed:24192928). The DCUN1 domain mediates the interaction with the N-terminally acetylated NEDD8-conjugating E2s enzyme leading to the NEDD8 transfer from N-terminally acetylated NEDD8-conjugating E2s enzyme to different cullin C-terminal domain-RBX complexes; the neddylation efficiency correlates with the DCUN1D5-cullin and DCUN1D5-E2 interaction affinities (PubMed:23201271).
messages: Weakly expressed in testis, skin and immune tissues (thymus, spleen and lymph nodes).
messages: spindle

9606:LIFR
gene id: 9606:LIFR
uniprot id: A8K1Z4
uniprot id: P42702
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1.
messages: Belongs to the type I cytokine receptor family. Type 2 subfamily.
messages: Cell membrane
messages: Heterodimer composed of LIFR and IL6ST. The heterodimer formed by LIFR and IL6ST interacts with the complex formed by CNTF and CNTFR.
messages: Membrane
messages: Secreted
messages: Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells.
messages: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
messages: The box 1 motif is required for JAK interaction and/or activation.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:GOLGA8M
gene id: 9606:GOLGA8M
uniprot id: H3BSY2
names: Similarity
messages: Belongs to the GOLGA8 family.

9606:C17orf58
gene id: 9606:C17orf58
uniprot id: Q2M2W7
names: Similarity
messages: Belongs to the UPF0450 family.

9606:CDC25C
gene id: 9606:CDC25C
uniprot id: B4DX61
uniprot id: P30307
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HIV-1 Vpr; this interaction inactivates CDC25C phosphatase activity.
messages: Belongs to the MPI phosphatase family.
messages: Expressed predominantly in G2 phase.
messages: Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle.
messages: Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity.
messages: Interacts with MAPK14 and 14-3-3 proteins (PubMed:11333986). When phosphorylated on Ser-129 and/or Thr-130, interacts with PLK1 (PubMed:12595692). Interacts with MARK3/C-TAK1 (PubMed:12941695).
messages: Nucleus
messages: Phosphorylated by CHEK1 and MAPK14 at Ser-216. This phosphorylation creates a binding site for 14-3-3 protein and inhibits the phosphatase. Phosphorylated by PLK4. Phosphorylated by PLK1, leading to activate the phosphatase activity. Phosphorylation by PLK3 at Ser-191 promotes nuclear translocation. Ser-198 is a minor phosphorylation site. Was initially reported to be phosphorylated by PLK3 at Ser-216 (PubMed:10557092). However, such phosphorylation by PLK3 was not confirmed by other groups. Phosphorylation at Thr-48, Thr-67, Ser-122, Thr-130, Ser-168 and Ser-214 occurs at G2 and G2-M transition and is probably catalyzed by CDK1. Ser-168 phosphorylation levels are lower than those at the other 5 CDK1 sites. Phosphorylation by CDK1 leads to increased activity.

9606:TMTC2
gene id: 9606:TMTC2
uniprot id: B7Z639
uniprot id: F8VSH2
uniprot id: Q8N394
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TMTC family.
messages: Endoplasmic reticulum
messages: Membrane
messages: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.

9606:PGLYRP2
gene id: 9606:PGLYRP2
uniprot id: Q96PD5
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family.
messages: Major isoform.
messages: May be due to an intron retention.
messages: May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments. Has no direct bacteriolytic activity.
messages: Membrane
messages: Secreted
messages: Strongly expressed in liver and fetal liver, and secreted into serum. Expressed to a much lesser extent in transverse colon, lymph nodes, heart, thymus, pancreas, descending colon, stomach and testis. Isoform 2 is not detected in the liver or serum.

9606:WNT11
gene id: 9606:WNT11
uniprot id: O96014
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the Wnt family.
messages: Expressed in fetal lung, kidney, adult heart, liver, skeletal muscle, and pancreas.
messages: Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters.
messages: Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.
messages: extracellular matrix

9606:DKK4
gene id: 9606:DKK4
uniprot id: Q9UBT3
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity).
messages: Appears to be not glycosylated.
messages: Belongs to the dickkopf family.
messages: Can be proteolytically processed by a furin-like protease.
messages: Expressed in cerebellum, T-cells, esophagus and lung.
messages: Interacts with LRP5 and LRP6.
messages: Secreted
messages: The C-terminal cysteine-rich domain mediates interaction with LRP5 and LRP6.

9606:CLEC18C
gene id: 9606:CLEC18C
uniprot id: Q8NCF0
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Binds polysaccharidesin a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans.
messages: Detected in peripheral blood cells.
messages: Endoplasmic reticulum
messages: Endosome
messages: Golgi apparatus
messages: Secreted

9606:UHRF1
gene id: 9606:UHRF1
uniprot id: A0A087WVR3
uniprot id: Q96T88
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Defects in UHRF1 may be a cause of cancers. Overexpressed in many different forms of human cancers, including bladder, breast, cervical, colorectal and prostate cancers, as well as pancreatic adenocarcinomas, rhabdomyosarcomas and gliomas. Plays an important role in the correlation of histone modification and gene silencing in cancer progression. Expression is associated with a poor prognosis in patients with various cancers, suggesting that it participates in cancer progression.
messages: Expressed in fetal thymus, liver and kidney.
messages: Expressed in thymus, bone marrow, testis, lung and heart. Overexpressed in breast cancer.
messages: Interacts with DNMT3A and DNMT3B (By similarity). Interacts with DNMT1; the interaction is direct. Interacts with USP7; leading to its deubiquitination. Interacts with histone H3. Interacts with HDAC1, but not with HDAC2. Interacts with BLTP3A. Interacts with PML. Interacts with EHMT2. Binds hemimethylated CpG containing oligonucleotides. Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (PubMed:32051553). Interacts with UHRF2 (PubMed:30335751). Interacts with FANCD2 (PubMed:30335751).
messages: Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone H3 trimethylated at 'Lys-9' (H3K9me3) and unmethylated at 'Arg-2' (H3R2me0), respectively, and recruits chromatin proteins. Enriched in pericentric heterochromatin where it recruits different chromatin modifiers required for this chromatin replication. Also localizes to euchromatic regions where it negatively regulates transcription possibly by impacting DNA methylation and histone modifications. Has E3 ubiquitin-protein ligase activity by mediating the ubiquitination of target proteins such as histone H3 and PML. It is still unclear how E3 ubiquitin-protein ligase activity is related to its role in chromatin in vivo. Plays a role in DNA repair by cooperating with UHRF1 to ensure recruitment of FANCD2 to interstrand cross-links (ICLs) leading to FANCD2 activation.
messages: Nucleus
messages: Phosphorylation at Ser-298 of the linker region decreases the binding to H3K9me3. Phosphorylation at Ser-639 by CDK1 during M phase impairs interaction with USP7, preventing deubiquitination and leading to degradation by the proteasome.
messages: The RING finger is required for ubiquitin ligase activity.
messages: The YDG domain (also named SRA domain) specifically recognizes and binds hemimethylated DNA at replication forks (DNA that is only methylated on the mother strand of replicating DNA) (PubMed:17673620). It contains a binding pocket that accommodates the 5-methylcytosine that is flipped out of the duplex DNA. 2 specialized loops reach through the resulting gap in the DNA from both the major and the minor grooves to read the other 3 bases of the CpG duplex. The major groove loop confers both specificity for the CpG dinucleotide and discrimination against methylation of deoxycytidine of the complementary strand (PubMed:18772889). The YDG domain also recognizes and binds 5-hydroxymethylcytosine (5hmC) (PubMed:21731699).
messages: The tudor-like regions specifically recognize and bind histone H3 unmethylated at 'Arg-2' (H3R2me0), while the PHD-type zinc finger specifically recognizes and binds histone H3 trimethylated at 'Lys-9' (H3K9me3). The tudor-like regions simultaneously recognizes H3K9me3 through a conserved aromatic cage in the first tudor-like subdomain and unmodified H3K4 (H3K4me0) within a groove between the tandem subdomains (PubMed:21489993, PubMed:21777816 and PubMed:22100450). The linker region plays a role in the formation of a histone H3-binding hole between the reader modules formed by the tudor-like regions and the PHD-type zinc finger by making extended contacts with the tandem tudor-like regions (PubMed:22837395).
messages: Ubiquitinated; which leads to proteasomal degradation. Autoubiquitinated; interaction with USP7 leads to deubiquitination and prevents degradation. Ubiquitination and degradation takes place during M phase, when phosphorylation at Ser-639 prevents interaction with USP7 and subsequent deubiquitination. Polyubiquitination may be stimulated by DNA damage.
messages: Up-regulated in proliferating cells, and down-regulated in quiescent cells. Down-regulated upon adriamycin-induced DNA damage, in a p53/TP53 and CDKN1A-dependent way. Induced by E2F1 transcription factor.

9606:BTAF1
gene id: 9606:BTAF1
uniprot id: O14981
uniprot id: Q2M1V9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with TBP to form B-TFIID. Binds DRAP1.
messages: Belongs to the SNF2/RAD54 helicase family.
messages: Nucleus
messages: Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner.

9606:MT1F
gene id: 9606:MT1F
uniprot id: H3BRY8
uniprot id: P04733
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the metallothionein superfamily. Type 1 family.
messages: Class I metallothioneins contain 2 metal-binding domains: four divalent ions are chelated within cluster A of the alpha domain and are coordinated via cysteinyl thiolate bridges to 11 cysteine ligands. Cluster B, the corresponding region within the beta domain, can ligate three divalent ions to 9 cysteines.
messages: Metallothioneins have a high content of cysteine residues that bind various heavy metals.
messages: Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.
messages: Monomer.

9606:RAB39A
gene id: 9606:RAB39A
uniprot id: Q14964
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Cell membrane
messages: Interacts with BECN1. Probably associates with the PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex (PubMed:24349490). Interacts with UACA (By similarity). Interacts with isoform a of RASSF1 (By similarity). Does not interact with isoform c of RASSF1 (By similarity).
messages: Lysosome
messages: Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in vesicular trafficking. Plays a role in the fusion of phagosomes with lysosomes. Negatively regulates LPS-induced autophagosome formation in macrophages possibly by implicating PI3K (PubMed:24349490). May be involved in multiple neurite formation (By similarity).
messages: phagosome
messages: phagosome membrane

9606:VPS51
gene id: 9606:VPS51
uniprot id: Q9UID3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).
messages: Belongs to the VPS51 family.
messages: Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54 (PubMed:20685960, PubMed:27440922, PubMed:30624672). Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin (PubMed:25799061, PubMed:27440922, PubMed:30624672). EIPR1 interacts with both EARP and GARP complexes and mediates the recruitment of the GARP complex to the trans-Golgi network (PubMed:27440922). Interacts with STX6 (via N-terminus) (PubMed:20685960). Interacts with VPS50 and VPS54 in an EIPR1-independent manner (PubMed:31721635).
messages: Recycling endosome
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: trans-Golgi network

9606:PICALM
gene id: 9606:PICALM
uniprot id: A0A024R5L7
uniprot id: A0A024R5P1
uniprot id: Q13492
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with MLLT10.
messages: Belongs to the PICALM/SNAP91 family.
messages: Binds to clathrin; involves primarily the C-terminal sequences, but the full-length protein is required for full binding capacity. Binds phosphatidylinositol 4,5- bisphosphate. Interacts with PIMREG; this interaction may change the subcellular location into the nucleus (PubMed:16491119). Interacts with AP2A1 (via its alpha-appendage domain) (PubMed:16262731). Interacts (via N-terminus) with VAMP2; VAMP3; VAMP7 and VAMP8 (Via N-terminus) (PubMed:22118466, PubMed:21808019, PubMed:23741335). Interacts with LC3/MAP1LC3A (PubMed:24067654).
messages: Cell membrane
messages: Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly (PubMed:10436022, PubMed:16262731, PubMed:27574975). Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature (PubMed:25898166). In addition to binding to clathrin, mediates the endocytosis of small R-SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8 (PubMed:22118466, PubMed:21808019, PubMed:23741335). In turn, PICALM-dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors (PubMed:25241929). Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP-CTF) (PubMed:25241929, PubMed:24067654).
messages: Expressed in all tissues examined.
messages: Golgi apparatus
messages: Membrane
messages: Nucleus
messages: clathrin-coated pit
messages: clathrin-coated vesicle

9606:OR11H4
gene id: 9606:OR11H4
uniprot id: A0A126GW19
uniprot id: Q8NGC9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:PIP5K1A
gene id: 9606:PIP5K1A
uniprot id: Q99755
names: Activity Regulation
names: Caution
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by diarachidonoyl phosphatidic acid (DAPA), when 1,2-dipalmitoyl-PI4P is used as a substrate.
messages: Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transduction, vesicle trafficking, actin cytoskeleton dynamics, cell adhesion, and cell motility (PubMed:8955136, PubMed:21477596, PubMed:22942276). PtdIns(4,5)P2 can directly act as a second messenger or can be utilized as a precursor to generate other second messengers: inositol 1,4,5-trisphosphate (IP3), diacylglycerol (DAG) or phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3/PIP3) (PubMed:19158393, PubMed:20660631). PIP5K1A-mediated phosphorylation of PtdIns(4)P is the predominant pathway for PtdIns(4,5)P2 synthesis (By similarity). Can also use phosphatidylinositol (PtdIns) as substrate in vitro (PubMed:22942276). Together with PIP5K1C, is required for phagocytosis, both enzymes regulating different types of actin remodeling at sequential steps (By similarity). Promotes particle ingestion by activating the WAS GTPase-binding protein that induces Arp2/3 dependent actin polymerization at the nascent phagocytic cup (By similarity). Together with PIP5K1B, is required, after stimulation by G-protein coupled receptors, for the synthesis of IP3 that will induce stable platelet adhesion (By similarity). Recruited to the plasma membrane by the E-cadherin/beta-catenin complex where it provides the substrate PtdIns(4,5)P2 for the production of PtdIns(3,4,5)P3, IP3 and DAG, that will mobilize internal calcium and drive keratinocyte differentiation (PubMed:19158393). Positively regulates insulin-induced translocation of SLC2A4 to the cell membrane in adipocytes (By similarity). Together with PIP5K1C has a role during embryogenesis (By similarity). Independently of its catalytic activity, is required for membrane ruffling formation, actin organization and focal adhesion formation during directional cell migration by controlling integrin…
messages: Cell membrane
messages: Cytoplasm
messages: Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels in brain, lung and liver.
messages: Interacts with RAC1 (By similarity). Interacts with TUT1 (PubMed:18288197). Forms a complex with CDH1/E-cadherin, CTNNB1/beta-catenin and CTNND1 at the plasma membrane upon calcium stimulation (PubMed:18288197). Found in a ternary complex with IRS1 and DGKZ in the absence of insulin stimulation (By similarity). Interacts with DGKZ (PubMed:15157668). Interacts with PIP4K2C; the interaction inhibits PIP5K1A kinase activity (PubMed:31091439).
messages: Nucleus
messages: Nucleus speckle
messages: There is confusion in the literature with phosphatidylinositol 4-phosphate 5-kinase type I nomenclature due to the fact that frequently mouse PIP5K1B is named Phosphatidylinositol 4-phosphate 5-kinase type I alpha.
messages: lamellipodium
messages: ruffle

9606:SPPL2A
gene id: 9606:SPPL2A
uniprot id: Q8TCT8
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase A22B family.
messages: Glycosylated.
messages: Interacts with ITM2B (PubMed:17965014).
messages: Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17557115, PubMed:17965014). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952). Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD) (PubMed:17557115). Essential for degradation of the invariant chain CD74 that plays a central role in the function of antigen-presenting cells in the immune system (By similarity). Plays a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus envelope glycoprotein gp130 independently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852).
messages: Late endosome membrane
messages: Lysosome membrane
messages: Membrane
messages: The PAL motif is required for normal active site conformation. The catalytic domains embedded in the membrane are in the opposite orientation to that of the presenilin protein family; therefore, it is predicted to cleave type II-oriented substrate peptides like the prototypic protease SPP. The C-terminal tail is necessary for lysosomal transport.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:ATP5PD
gene id: 9606:ATP5PD
uniprot id: A0PJH2
uniprot id: O75947
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ATPase d subunit family.
messages: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MK and ATP5MJ (By similarity).
messages: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.
messages: Mitochondrion
messages: Mitochondrion inner membrane

9606:RDH8
gene id: 9606:RDH8
uniprot id: K7ELF7
uniprot id: Q9NYR8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
messages: Detected in photoreceptor outer segments in the retina (at protein level).
messages: Membrane
messages: Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity).
messages: Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity.

9606:VCX
gene id: 9606:VCX
uniprot id: Q9H320
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the VCX/VCY family.
messages: Expressed exclusively in testis.
messages: May mediate a process in spermatogenesis or may play a role in sex ratio distortion.

9606:TUSC2
gene id: 9606:TUSC2
uniprot id: O75896
names: Function
names: PTM
names: Similarity
names: Tissue Specificity
messages: Belongs to the TUSC2 family.
messages: May function as a tumor suppressor, inhibiting colony formation, causing G1 arrest and ultimately inducing apoptosis in homozygous 3p21.3 120-kb region-deficient cells.
messages: Myristoylation is required for tumor suppressor activity.
messages: Strong expression in heart, lung, skeletal muscle, kidney, and pancreas, followed by brain and liver, lowest levels in placenta.

9606:CBX5
gene id: 9606:CBX5
uniprot id: P45973
uniprot id: V9HWG0
names: Caution
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with JC virus agnoprotein; this interaction induces the dissociation of CBX5 from LBR, resulting in destabilization of the nuclear envelope.
messages: Chromosome
messages: Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins.
messages: Interacts directly with ATRX, CHAF1A, LBR, NIPBL, SP100, STAM2 and TRIM28 via the chromoshadow domain (PubMed:15882967, PubMed:9169472). Can interact directly with CBX3 via the chromoshadow domain (PubMed:9169472). Interacts with KMT5B and KMT5C (By similarity). Interacts with HP1BP3 (PubMed:20042602). Interacts with histone H3 methylated at 'Lys-9' (PubMed:11242053, PubMed:21047797). Interacts with BAHD1, MIS12 and DSN1 (PubMed:15502821, PubMed:19666599). Interacts with POGZ; POGZ and PXVXL motif-containing proteins such as INCENP and TRIM28 compete for interaction with CBX5 (PubMed:20562864, PubMed:20850016, PubMed:21346195). Interacts with INCENP and TRIM24 (PubMed:11313457). Interacts with CHAMP1 (PubMed:20850016). Interacts with PRR14 (via N-terminus) (PubMed:25906157). Interacts with RRP1B (PubMed:19710015). Interacts with HNRNPU (via C-terminus); this interaction is, at least in part, RNA-dependent (PubMed:19617346). Interacts with LRIF1 (via PxVxL motif) (PubMed:23542155). Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (PubMed:32051553). May form homodimers (By similarity). Interacts with SMYD5 (By similarity).
messages: Nucleus
messages: Phosphorylation of HP1 and LBR may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle (By similarity). Phosphorylated during interphase and possibly hyper-phosphorylated during mitosis.
messages: Ubiquitinated.
messages: Was previously reported to interact with ASXL1. However, this publication has been retracted.
messages: centromere

9606:NOXA1
gene id: 9606:NOXA1
uniprot id: Q86UR1
names: Developmental Stage
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NCF2/NOXA1 family.
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in fetal kidney.
messages: Functions as an activator of NOX1, a superoxide-producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3.
messages: Inactive for NOX1 activation.
messages: Interaction with YWHAZ depends on phosphorylation by PKA.
messages: Mostly inactive for NOX1 activation. Does not interact with NOXO1.
messages: NOX1, NOXA1, NOXO1, RAC1 and CYBA forms a functional multimeric complex supporting ROS production. Interaction with YWHAZ prevents the interaction of NOXA1 with NOXO1 and RAC1 and its targeting to membranes, hence reducing its ability to activate NOX1. Interacts (via N-terminus) with SH3PXD2A and SH3PXD2B; the interaction is direct.
messages: The SH3 domain mediates interaction with NOXO1 and NCF1 and has autoregulatory function.
messages: The TPR repeats mediate interaction with RAC1.
messages: Widely expressed. Detected in pancreas, liver, kidney, spleen, prostate, small intestine and colon.

9606:BSN
gene id: 9606:BSN
uniprot id: Q9UPA5
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Exclusively expressed in brain.
messages: Interacts with PCLO, ERC2/CAST1, RIMS1 and UNC13A (By similarity). Interacts with TPRG1L (By similarity). Interacts with DYNLL1 and DYNLL2; these interactions potentially link PTVs to dynein and myosin V motor complexes (PubMed:19380881). Interacts with ATG5; this interaction is important for the regulation of presynaptic autophagy (By similarity). Interacts (via C-terminus) with TRIO (via N-terminus) (By similarity). Interacts with CTBP1 (By similarity). Interacts with SIAH1; this interaction negatively regulates SIAH1 E3 ligase activity (By similarity).
messages: Myristoylated. The N-terminal myristoylation is not sufficient for presynaptic localization (By similarity).
messages: Presynaptic active zone
messages: Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (PubMed:12812759). After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (PubMed:19380881). At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). Functions also in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy by associating with ATG5 (By similarity). Mediates also synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity).
messages: cytoskeleton
messages: synaptic vesicle membrane

9606:GSG1L
gene id: 9606:GSG1L
uniprot id: Q6UXU4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating.
messages: Belongs to the GSG1 family.
messages: Cell membrane
messages: Component of the inner core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).
messages: Synapse

9606:GDPD3
gene id: 9606:GDPD3
uniprot id: Q7L5L3
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycerophosphoryl diester phosphodiesterase family.
messages: Endoplasmic reticulum
messages: Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines (PubMed:27637550). Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylcholine (lyso-PC) and N-acylethanolamine lysophospholipids (PubMed:27637550). Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine.
messages: Lysophospholipase D activity is stimulated by calcium. Loss of lysophospholipase D activity in presence of EDTA.
messages: Membrane
messages: Widely expressed, with high level in kidney and ovary.
messages: perinuclear region

9606:ARL6IP4
gene id: 9606:ARL6IP4
uniprot id: Q66PJ3
names: Developmental Stage
names: Function
names: Induction
names: RNA Editing
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ARL6IP4 family.
messages: Expressed only in G1/S phase.
messages: In case of Herpes simplex virus (HSVI)-binding to cells.
messages: Interacts with ARL6 (By similarity). Interacts with ZCCHC17. Interacts with SRSF2.
messages: Involved in modulating alternative pre-mRNA splicing with either 5' distal site activation or preferential use of 3' proximal site. In case of infection by Herpes simplex virus (HSVI), may act as a splicing inhibitor of HSVI pre-mRNA.
messages: Isoforms 3 and 7 were identified in brain, pancreas, prostate, and testis, but little or no message could be detected in other tissues.
messages: Nucleus speckle
messages: Partially edited. In the brain, edited at about 68%.
messages: nucleolus

9606:NCS1
gene id: 9606:NCS1
uniprot id: P62166
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the recoverin family.
messages: Binds 3 calcium ions via the second, third and fourth EF-hand.
messages: Cell membrane
messages: Cytoplasm
messages: Golgi apparatus
messages: Membrane
messages: Monomer (By similarity). Interacts with KCND2 (PubMed:11606724). Interacts in a calcium-independent manner with PI4KB (By similarity). This binding competes with CALN2/CABP7 binding to PI4KB (By similarity). Interacts in a calcium-dependent manner with PICK1 (via AH domain) (By similarity). Interacts with ARF1, ARF3, ARF5 and ARF6 (PubMed:17555535). Interacts with IL1RAPL1 (PubMed:12783849).
messages: Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N-type voltage-gated calcium channel (By similarity).
messages: Postsynaptic density
messages: perinuclear region

9606:CBARP
gene id: 9606:CBARP
uniprot id: Q8N350
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cell membrane
messages: Interacts with voltage-dependent calcium channels CACNB1, CACNB2, CACNB3 and CACNB4 beta subunits; prevents their interaction with the CACNA1C alpha subunit thereby negatively regulating the activity of the corresponding calcium channels.
messages: Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis.
messages: growth cone
messages: synaptic vesicle membrane

9606:AKAIN1
gene id: 9606:AKAIN1
uniprot id: P0CW23
names: Domain
names: Function
names: Subunit
names: Tissue Specificity
messages: Binds cAMP-dependent protein kinase (PKA). Interacts specifically with RII-regulatory subunits of PKA (PRKAR2A and PRKAR2B) (PubMed:25653177).
messages: Preferentially expressed in the neural tissues (PubMed:25653177).
messages: Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A-kinase anchoring protein (AKAP)-mediated subcellular localization of PKA (PubMed:25653177).
messages: The RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.

9606:GTPBP3
gene id: 9606:GTPBP3
uniprot id: Q969Y2
names: Disease Annotation
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. TrmE GTPase family.
messages: GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed.
messages: Val-250 variation may influence aminoglycoside-induced deafness (AID) [MIM:580000]. AID is characterized by deafness, varying from profond congenital hearing loss to normal hearing, and is caused by homoplasmic A1555G mutation in the mitochondrial 12S rRNA. Val-250 may affect the accuracy of codon-anticodon interaction, leading to modulate the translational efficiency and thereby affecting the severity of deafness in patients homozygous for 12S rRNA A1555G mutation.

9606:KNG1
gene id: 9606:KNG1
uniprot id: P01042
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Subcellular Location Annotation
names: Tissue Specificity
messages: (Microbial infection) Bradykinin is generated upon proteolytic clevage by S.pyogenes SpeB to produce hypotension during septic shock.
messages: Bradykinin is inactivated by ACE, which removes the dipeptide Arg-Phe from its C-terminus.
messages: Bradykinin is released from kininogen by plasma kallikrein.
messages: Hydroxylation of Pro-383 occurs prior to the release of bradykinin.
messages: Kininogens are inhibitors of thiol proteases. HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes. LMW-kininogen inhibits the aggregation of thrombocytes. LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting.
messages: N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
messages: Phosphorylated by FAM20C in the extracellular medium.
messages: Secreted in plasma. T-kinin is detected in malignant ovarian, colon and breast carcinomas, but not in benign tumors.
messages: The T-kinin peptide is missing residues 378 to 380, probably as a result of a naturally occurring variant. The complete sequence of the T-kinin peptide is therefore ISRPPGFSPFR. This peptide is associated with malignant tumors but not with benign ones.
messages: The active peptide bradykinin is a potent vasodilatator that is released from HMW-kininogen shows a variety of physiological effects: (A) influence in smooth muscle contraction, (B) induction of hypotension, (C) natriuresis and diuresis, (D) decrease in blood glucose level, (E) it is a mediator of inflammation and causes (E1) increase in vascular permeability, (E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular space

9606:SLC9A9
gene id: 9606:SLC9A9
uniprot id: Q8IVB4
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A chromosomal aberration involving SLC9A9 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9.
messages: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Late endosome membrane
messages: May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell.
messages: Ubiquitously expressed in all tissues tested. Expressed at highest levels in heart and skeletal muscle, followed by placenta, kidney, and liver. Expressed in the brain, in the medulla and spinal cord.

9606:JPH4
gene id: 9606:JPH4
uniprot id: Q96JJ6
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the junctophilin family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity).
messages: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.

9606:DEFA5
gene id: 9606:DEFA5
uniprot id: Q01523
names: Caution
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a target for S.flexneri infection by binding to the bacterium, possibly via bacterial surface proteins, and thereby augmenting infectivity via enhanced bacterial adhesion and invasion of epithelial cells and tissues.
messages: (Microbial infection) The disulfide bridges and homodimerization are a prerequisite for the enhancement of S.flexneri adhesion and invasion.
messages: Belongs to the alpha-defensin family.
messages: Expressed in the gastrointestinal, reproductive, and urinary tracts (at protein level) (PubMed:1429669, PubMed:12021776, PubMed:9588893, PubMed:22359618). Expressed in Paneth cells of the small intestine (at protein level) (PubMed:1429669, PubMed:12021776). Expressed throughout the urothelium of the lower urinary tract and in the collecting tubules of the kidney (at protein level) (PubMed:22359618). Expressed in stratified squamous epithelial cells of the female genital tract epithelia, such as in vagina, ectocervix, endocervix, endometrium, and fallopian tube (at protein level) (PubMed:9588893). Endometrial expression correlates with stages of the menstrual cycle: Expression is low during the early proliferative phase, increased during the mid- to late proliferative phase, peaks during the early secretory phase of the cycle, and decreases during the mid- to late secretory phase (PubMed:9588893).
messages: Glycosylated.
messages: Homodimer (PubMed:17088326, PubMed:22573326, PubMed:25782105, PubMed:29858013). Homotetramer (PubMed:23163963). Interacts with B.antracis lef/lethal factor (PubMed:22573326).
messages: Host-defense peptide that maintains sterility in the urogenital system (PubMed:12021776, PubMed:12660734, PubMed:15616305, PubMed:22359618, PubMed:25354318, PubMed:30808760, PubMed:19589339, PubMed:22573326, PubMed:25782105). Has antimicrobial activity against a wide range of bacteria, including Gram-negative E.coli, P.aeruginosa and S.typhimurium, and Gram-positive E.aerogenes, S.aureus, B.cereus, E.faecium and L.monocytogenes (PubMed:12021776, PubMed:15616305, PubMed:22359618, PubMed:25354318, PubMed:30808760, PubMed:19589339, PubMed:22573326). Confers resistance to intestinal infection by S.typhimurium (PubMed:12660734). Exhibits antimicrobial activity against enteric commensal bacteria such as B.adolescentis, L.acidophilus, B.breve, L.fermentum, B.longum and S.thermophilus (PubMed:25354318). Binds to bacterial membranes and causes membrane disintegration (PubMed:25782105). Induces the secretion of the chemokine IL-8 by intestinal epithelial cells (PubMed:19589339). Binds to B.antracis lef/lethal factor, a major virulence factor from B.anthracis, and neutralizes its enzymatic activity (PubMed:22573326).
messages: It was shown by two studies that dimerization of DEFA5 is crucial for antimicrobial activity (PubMed:17088326, PubMed:22573326). Another study, however, states that dimer formation is not indispensable for antimicrobial activity of DEFA5 (PubMed:25782105).
messages: Proteolytically cleaved at Arg-62 by trypsin (PubMed:12021776). Both the propeptide form proHD5/HD5(20-94) and HD5(56-94) are cleaved into the lumenal peptide form HD5(63-94) by trypsin (PubMed:12021776). Unprocessed proHD5 exerts antimicrobial activities, but peptide potency is enhanced by peptide processing (PubMed:12021776). Proteolytically cleaved in duodenal fluid; derived fragments are antimicrobially active against commensal bacteria (in vitro) (PubMed:30808760).
messages: Secreted
messages: Up-regulated in fallopian tubes upon infection (PubMed:9588893). Increased expression in kidneys with pyelonephritis (PubMed:22359618).
messages: secretory vesicle

9606:SEMA5A
gene id: 9606:SEMA5A
uniprot id: Q13591
uniprot id: X5DR95
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the semaphorin family.
messages: Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1. May promote angiogenesis by increasing endothelial cell proliferation and migration and inhibiting apoptosis.
messages: Binds PLXNB3.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane

9606:COX1
gene id: 9606:COX1
uniprot id: P00395
uniprot id: U5YWV7
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the heme-copper respiratory oxidase family.
messages: Binds 2 heme A groups non-covalently per subunit.
messages: Binds a copper B center.
messages: Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695). As a newly synthesized protein, rapidly incorporates into a multi-subunit assembly intermediate in the inner membrane, called MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase) complex, whose core components are COA3/MITRAC12 and COX14. Within the MITRAC complex, interacts with COA3 and with SMIM20/MITRAC7; the interaction with SMIM20 stabilizes the newly synthesized MT-CO1 and prevents its premature turnover (PubMed:26321642). Interacts with TMEM177 in a COX20-dependent manner (PubMed:29154948).
messages: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
messages: MT-CO1 may play a role in the pathogenesis of acquired idiopathic sideroblastic anemia, a disease characterized by inadequate formation of heme and excessive accumulation of iron in mitochondria. Mitochondrial iron overload may be attributable to mutations of mitochondrial DNA because these can cause respiratory chain dysfunction, thereby impairing reduction of ferric iron to ferrous iron. The reduced form of iron is essential to the last step of mitochondrial heme biosynthesis.
messages: Membrane
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry may be involved in disease pathogenesis.

9606:KIF3C
gene id: 9606:KIF3C
uniprot id: A2RU78
uniprot id: O14782
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily.
messages: Heterodimer of KIF3A and KIF3C.
messages: Microtubule-based anterograde translocator for membranous organelles.
messages: cytoskeleton

9606:MX2
gene id: 9606:MX2
uniprot id: P20592
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
messages: By type I and type III interferons.
messages: Cytoplasm
messages: Interferon-induced dynamin-like GTPase with potent antiviral activity against human immunodeficiency virus type 1 (HIV-1). Acts by targeting the viral capsid and affects the nuclear uptake and/or stability of the HIV-1 replication complex and the subsequent chromosomal integration of the proviral DNA. Exhibits antiviral activity also against simian immunodeficiency virus (SIV-mnd). May play a role in regulating nucleocytoplasmic transport and cell-cycle progression.
messages: Nucleus
messages: nuclear pore complex

9606:OR5F1
gene id: 9606:OR5F1
uniprot id: O95221
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:S100A12
gene id: 9606:S100A12
uniprot id: P80511
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the S-100 family.
messages: Cell membrane
messages: Cytoplasm
messages: Homodimer. Homooligomer (tetramer or hexamer) in the presence of calcium, zinc and copper ions. Interacts with AGER and both calcium and zinc are essential for the interaction. Interacts with CACYBP in a calcium-dependent manner.
messages: Predominantly expressed by neutrophils, monocytes and activated macrophages. Expressed by eosinophils and macrophages in asthmatic airways in regions where mast cells accumulate. Found in high concentrations in the serum of patients suffering from various inflammatory disorders, such as rheumatoid arthritis, psoriatic arthritis, Crohn's disease, ulcerative colitis, and Kawasaki disease.
messages: S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its pro-inflammatory activity involves recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to receptor for advanced glycation endproducts (AGER). Binding to AGER activates the MAP-kinase and NF-kappa-B signaling pathways leading to production of pro-inflammatory cytokines and up-regulation of cell adhesion molecules ICAM1 and VCAM1. Acts as a monocyte and mast cell chemoattractant. Can stimulate mast cell degranulation and activation which generates chemokines, histamine and cytokines inducing further leukocyte recruitment to the sites of inflammation. Can inhibit the activity of matrix metalloproteinases; MMP2, MMP3 and MMP9 by chelating Zn(2+) from their active sites. Possesses filariacidal and filariastatic activity. Calcitermin possesses antifungal activity against C.albicans and is also active against E.coli and P.aeruginosa but not L.monocytogenes and S.aureus.
messages: Secreted
messages: The hinge domain contributes significantly to its chemotactic properties.
messages: cytoskeleton

9606:LRRN1
gene id: 9606:LRRN1
uniprot id: Q6UXK5
names: Subcellular Location Annotation
messages: Membrane

9606:IMPG2
gene id: 9606:IMPG2
uniprot id: F1T0J3
uniprot id: Q9BZV3
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin.
messages: Expressed in the retina (at protein level) (PubMed:10702256, PubMed:29777959). Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones (at protein level) (PubMed:10542133, PubMed:29777959). IPM occupies the subretinal space between the apices of the retinal pigment epithelium and the neural retina (PubMed:10542133). Expressed in the pineal gland (at protein level) (PubMed:10702256).
messages: Expressed in the retina 17 weeks post-conception (at protein level) (PubMed:29777959). Expressed in the outer neuroblastic zone and retinal pigment epithelium (at protein level) (PubMed:29777959).
messages: Highly glycosylated (N- and O-linked carbohydrates).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Photoreceptor inner segment membrane
messages: Photoreceptor outer segment membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: interphotoreceptor matrix

9606:BRINP1
gene id: 9606:BRINP1
uniprot id: O60477
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the BRINP family.
messages: Cytoplasm
messages: Highly expressed in brain. Weakly expressed in heart, lung, skeletal muscle, kidney, thymus, prostate, testis and small intestine.
messages: Inhibits cell proliferation by negative regulation of the G1/S transition. Mediates cell death which is not of the classical apoptotic type and regulates expression of components of the plasminogen pathway.
messages: Silenced by methylation in 50% of bladder cancer cell lines.

9606:ERV3-1-ZNF117
gene id: 9606:ERV3-1-ZNF117
uniprot id: Q03924
names: Developmental Stage
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Aberrant splicing.
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed early during embryonic development.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:MAP3K12
gene id: 9606:MAP3K12
uniprot id: A0A024RAY5
uniprot id: Q12852
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylated on Ser/Thr. Phosphorylated in cytosol under basal conditions and dephosphorylated when membrane-associated (By similarity).
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Highly expressed in brain and kidney.
messages: Homodimer (By similarity). Interacts with MBIP (PubMed:10801814).
messages: Interacts with MBIP through the leucine-zipper motif.
messages: May be an activator of the JNK/SAPK pathway.
messages: Part of a non-canonical MAPK signaling pathway (PubMed:28111074). Activated by APOE, enhances the AP-1-mediated transcription of APP, via a MAP kinase signal transduction pathway composed of MAP2K7 and MAPK1/ERK2 and MAPK3/ERK1 (PubMed:28111074). May be an activator of the JNK/SAPK pathway.
messages: The activity of MAP3K12 can be regulated through its proteasomal degradation. APOE, through a receptor-mediated mechanism, activates MAP3K12 by preventing its proteasomal degradation.

9606:DNAH6
gene id: 9606:DNAH6
uniprot id: Q9C0G6
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the dynein heavy chain family.
messages: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function (By similarity).
messages: Expressed in several tissues, including brain, pituitary, testis and trachea, with highest levels in testis.
messages: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity).
messages: The dynein complex consists of at least two heavy chains and a number of intermediate and light chains.
messages: cilium axoneme

9606:HNF4A
gene id: 9606:HNF4A
uniprot id: A0A087WXV4
uniprot id: B9VVT8
uniprot id: F1D8S2
uniprot id: F1D8T0
uniprot id: F1D8T1
uniprot id: P41235
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation at Lys-458 lowers transcriptional activation by about two-fold.
messages: Belongs to the nuclear hormone receptor family.
messages: Belongs to the nuclear hormone receptor family. NR2 subfamily.
messages: Binds fatty acids.
messages: Disease susceptibility may be associated with variants affecting the gene represented in this entry.
messages: Homodimerization is required for HNF4-alpha to bind to its recognition site (PubMed:14982928). Interacts with CLOCK, BMAL1, CRY1, CRY2, PER1 and PER2 (PubMed:30530698). Interacts with NR0B2/SHP; the resulting heterodimer is transcriptionnally inactive (PubMed:28128295). Interacts with DDX3X; this interaction disrupts the interaction between HNF4 and NR0B2 that forms inactive heterodimers and enhances the formation of active HNF4 homodimers (PubMed:28128295).
messages: Nucleus
messages: Phosphorylated on tyrosine residue(s); phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution. Phosphorylation at Ser-313 by AMPK reduces the ability to form homodimers and bind DNA.
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform HNF4-Alpha-1.
messages: Produced by alternative splicing of isoform HNF4-Alpha-7.
messages: The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698).

9606:SINHCAF
gene id: 9606:SINHCAF
uniprot id: Q9NP50
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SINHCAF family.
messages: Interacts with the Sin3/HDAC corepressor complex at least composed of BRMS1, BRMS1L, ING2, SAP30, SAP30L and HDAC1 (PubMed:22865885, PubMed:22984288). Found in a complex composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1. Interacts with SIN3A and OGT (By similarity).
messages: Nucleus
messages: Peaks during G1 and S phases of the cell cycle in U2OS cells. Up-regulated in squamous cell carcinoma (SCC), adenocarcinoma (AC), colon, ovary, rectum and stomach tumors.
messages: Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway (PubMed:22865885, PubMed:22984288). Core component of a SIN3A complex (composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1) present in embryonic stem (ES) cells. Promotes the stability of SIN3A and its presence on chromatin and is essential for maintaining the potential of ES cells to proliferate rapidly, while ensuring a short G1-phase of the cell cycle, thereby preventing premature lineage priming (By similarity).

9606:ADAMTS17
gene id: 9606:ADAMTS17
uniprot id: H3BRA9
uniprot id: Q8TE56
names: Caution
names: Cofactor
names: Disease Annotation
names: Domain
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Binds 1 zinc ion per subunit.
messages: Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Can also be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
messages: Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow and skeletal muscle. Isoform 1 and isoform 2 are expressed at high levels in the fetal heart, kidney, and whole eye, whereas a weak expression is seen in the fetal liver.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The precursor is cleaved by a furin endopeptidase.
messages: extracellular matrix

9606:BBC3
gene id: 9606:BBC3
uniprot id: Q96PG8
uniprot id: Q9BXH1
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Bcl-2 family.
messages: Contrary to isoforms 1 and 2, isoforms 3 and 4 do not contain any BH3 motif.
messages: Does not affect cell growth.
messages: Does not interact with BCL2.
messages: Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis (PubMed:11463391, PubMed:23340338). Promotes partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53, releasing the bound p53/TP53 to induce apoptosis (PubMed:23340338). Regulates ER stress-induced neuronal apoptosis (By similarity).
messages: Interacts with MCL1 and BCL2A1 (By similarity). Interacts (via BH3 domain) with BCL2 (PubMed:11463391). Interacts with BCL2L1/BCL-XL (PubMed:23340338). Interacts (via BH3 domain) with NOL3/ARC (via CARD domain); this interaction prevents BBC3 association with BCL2 and results in CASP8 activation (By similarity).
messages: Mitochondrion
messages: The BH3 motif is intrinsically disordered in the absence of a binding partner but folds upon binding (PubMed:23340338). Folds when bound to BCL2L1 (PubMed:23340338). Also folds when bound to MCL1 (By similarity).
messages: Ubiquitously expressed.
messages: Up-regulated by TP53 (PubMed:11463392, PubMed:11572983). Up-regulated by DNA damage, glucocorticoid treatment and growth factor deprivation (PubMed:11572983). Up-regulated by ER stress in a DDIT3/CHOP-dependent manner (PubMed:22761832).
messages: Up-regulated by TP53.

9606:MPI
gene id: 9606:MPI
uniprot id: B4DW50
uniprot id: F5GX71
uniprot id: H3BPB8
uniprot id: H3BPP3
uniprot id: P34949
uniprot id: Q8NHZ6
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the mannose-6-phosphate isomerase type 1 family.
messages: Binds 1 zinc ion per subunit.
messages: Cytoplasm
messages: Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.
messages: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:TCEA3
gene id: 9606:TCEA3
uniprot id: B4DUM4
uniprot id: O75764
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TFS-II family.
messages: Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus.
messages: Nucleus

9606:SLC2A12
gene id: 9606:SLC2A12
uniprot id: Q8TD20
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
messages: Cell membrane
messages: Endomembrane system
messages: Insulin-independent facilitative glucose transporter.
messages: Predominantly expressed in skeletal muscle, heart and prostate, with lower levels in brain, placenta and kidney.
messages: perinuclear region

9606:NFKBID
gene id: 9606:NFKBID
uniprot id: Q8NI38
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NF-kappa-B inhibitor family.
messages: Interacts with NFKB1, RELA and RELB; in the nucleus.
messages: Nucleus
messages: Regulates the expression of IL-2, IL-6, and other cytokines through regulation on NF-kappa-B activity. Functions in the regulation of inflammatory responses. Involved in the induction of T helper 17 cells (Th17) differentiation upon recognition of antigen by T cell antigen receptor (TCR). May also regulate TCR-induced negative selection of thymocytes.

9606:ITIH1
gene id: 9606:ITIH1
uniprot id: P19827
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ITIH family.
messages: Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells.
messages: Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage.
messages: I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (HC) and one light chain, bikunin. Inter-alpha-inhibitor (I-alpha-I) is composed of ITIH1/HC1, ITIH2/HC2 and bikunin (PubMed:2476436). Interacts with TNFAIP6 (via Link and CUB domains) (PubMed:26468290).
messages: May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.
messages: Secreted
messages: The S-linked glycan is composed of two 6-carbon sugars, possibly Glc or Gal.
messages: There are 3 common alleles; ITIH1*1 with Glu-585/Gln-595, ITIH1*2 with Val-585/Arg-595 and ITIH1*3 with Glu-585/Arg-595.

9606:TMEM143
gene id: 9606:TMEM143
uniprot id: Q96AN5
names: Subcellular Location Annotation
messages: Membrane

9606:LTC4S
gene id: 9606:LTC4S
uniprot id: Q16873
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the MAPEG family.
messages: Catalyzes the conjugation of leukotriene A4 with reduced glutathione (GSH) to form leukotriene C4 with high specificity (PubMed:7937884, PubMed:27791009, PubMed:27365393, PubMed:9153254, PubMed:23409838). Can also catalyze the transfer of a glutathionyl group from glutathione (GSH) to 13(S),14(S)-epoxy-docosahexaenoic acid to form maresin conjugate in tissue regeneration 1 (MCTR1), a bioactive lipid mediator that possess potent anti-inflammatory and proresolving actions (PubMed:27791009).
messages: Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets.
messages: Endoplasmic reticulum membrane
messages: Homotrimer (PubMed:17632548, PubMed:17632546). Interacts with ALOX5AP and ALOX5 (PubMed:19233132).
messages: Inhibited by MK886.
messages: LTC4 synthase deficiency is associated with a neurometabolic developmental disorder characterized by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
messages: Nucleus membrane
messages: Nucleus outer membrane
messages: Phosphorylation at Ser-36 by RPS6KB1 inhibits the leukotriene-C4 synthase activity.

9606:NRSN1
gene id: 9606:NRSN1
uniprot id: Q8IZ57
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the VMP family.
messages: Expressed in brain. Not detectable in other tissues tested.
messages: May play an important role in neural organelle transport, and in transduction of nerve signals or in nerve growth. May play a role in neurite extension. May play a role in memory consolidation (By similarity).
messages: Membrane
messages: neuron projection

9606:SPG7
gene id: 9606:SPG7
uniprot id: Q9UQ90
names: Caution
names: Cofactor
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator and originally thought to be encoded by the CMAR gene. There is no experimental evidence for the production of endogenous CMAR protein.
messages: ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).
messages: Binds 1 zinc ion per subunit.
messages: Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera.
messages: Forms heterooligomers with AFG3L1 and AFG3L2 (By similarity). Component of the mitochondrial permeability transition pore complex (mPTPC), at least composed of SPG7, VDAC1 and PPIF (PubMed:26387735). Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:14623864, PubMed:26387735). Interacts with AFG3L1 (By similarity). Interacts with MAIP1 (PubMed:27499296). Interacts with VDAC1 and PPIF (PubMed:26387735).
messages: In the C-terminal section; belongs to the peptidase M41 family.
messages: In the N-terminal section; belongs to the AAA ATPase family.
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.
messages: Upon import into the mitochondrion, the N-terminal transit peptide is cleaved by the mitochondrial-processing peptidase (MPP) to generate an intermediate form which undergoes a second proteolytic cleavage mediated by proteases AFG3L1 and/or AFG3L2 removing an additional N-terminal fragment to generate the proteolytically active mature form.

9606:SPATA2
gene id: 9606:SPATA2
uniprot id: Q9UM82
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SPATA2 family.
messages: Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-alpha-induced necroptosis (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049). Acts as a direct binding intermediate that bridges RNF31/HOIP, the catalytic subunit of the LUBAC complex, and the deubiquitinase (CYLD), thereby recruiting CYLD to the TNF-R1 signaling complex (TNF-RSC) (PubMed:27458237, PubMed:27545878, PubMed:27591049). Required to activate the 'Met-1'- (linear) and 'Lys-63'-linked deubiquitinase activities of CYLD (PubMed:27458237, PubMed:27591049). Controls the kinase activity of RIPK1 and TNF-alpha-induced necroptosis by promoting 'Met-1'-linked deubiquitination of RIPK1 by CYLD (By similarity).
messages: Cytoplasm
messages: Interacts (via the PIM motif) with RNF31/HOIP (via the PUB domain); the interaction is direct (PubMed:27458237, PubMed:27545878, PubMed:28189684, PubMed:27591049). Interacts (via the PUB domain) with CYLD; the interaction is direct (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049).
messages: Nucleus
messages: Present at high level in Sertoli cells, but not detected in spermatogenic cells (at protein level) (PubMed:10222154, PubMed:11079456). Low expression in spleen, thymus and prostate (PubMed:10222154).

9606:ZNF706
gene id: 9606:ZNF706
uniprot id: Q9Y5V0
names: Function
names: Subcellular Location Annotation
messages: Cytoplasm
messages: Nucleus
messages: Transcription repressor involved in the exit of embryonic stem cells (ESCs) from self-renewal. Acts by repressing expression of KLF4.

9606:ARSI
gene id: 9606:ARSI
uniprot id: Q5FYB1
names: Cofactor
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sulfatase family.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts (PubMed:19262745). Lacks arylsulfatase activity (PubMed:16500042).
messages: Endoplasmic reticulum
messages: Expressed in placenta, in embryonic stem cells, fetal eyes and lens.
messages: Secreted
messages: The oxidation of Cys-93 residue to 3-oxoalanine (also known as C(alpha)-formylglycine) by SUMF1/Sulfatase-modifying factor 1, seems critical for catalytic activity.

9606:ETNPPL
gene id: 9606:ETNPPL
uniprot id: B7Z224
uniprot id: E7ENR6
uniprot id: Q8TBG4
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
messages: Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde.
messages: Does not seem to possess aminotransferase activity.
messages: Homotetramer.
messages: Mitochondrion

9606:FMO4
gene id: 9606:FMO4
uniprot id: P31512
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the FMO family.
messages: Endoplasmic reticulum membrane
messages: Liver.
messages: Microsome membrane
messages: This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides.
messages: Was originally termed FMO2.

9606:CDCA8
gene id: 9606:CDCA8
uniprot id: Q53HL2
names: Developmental Stage
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the borealin family.
messages: Cell-cycle regulated. Increases during G2/M phase and then reduces after exit from M phase.
messages: Cells lacking CDCA8 display a slight decrease in histone H3 'Ser-10' phosphorylation, suggesting that the CPC complex mediates phosphorylation of 'Ser-10' of histone H3.
messages: Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Major effector of the TTK kinase in the control of attachment-error-correction and chromosome alignment.
messages: Cytoplasm
messages: May form homooligomers and homodimers. Component of the chromosomal passenger complex (CPC) composed of at least BIRC5/survivin, CDCA8/borealin, INCENP, AURKB or AURKC; in the complex forms a triple-helix bundle-based subcomplex with INCENP and BIRC5 (PubMed:17956729). Interacts with SENP3, UBE2I and RANBP2. Interacts (phosphorylated) with SGO1 and SGO2; the association is dependent on CDK1.
messages: Phosphorylated by TTK, essentially at Thr-88, Thr94, Thr-169 and Thr-230. Phosphorylation (probably by CDK1) promotes targeting of the CPC to centromeric DNA.
messages: Sumoylated by UBE2I and RANBP2. Desumoylated by SENP3 through the removal of SUMO2 and SUMO3.
messages: The C-terminal region (aa 207-280) represents the dimerization motif.
messages: centromere
messages: nucleolus
messages: spindle

9606:MBD3L4
gene id: 9606:MBD3L4
uniprot id: A6NDZ8
names: Caution
names: Miscellaneous
names: Similarity
messages: Belongs to the MBD3L family.
messages: Could be the product of a pseudogene.
messages: The MBD3L proteins are encoded by strongly repeated regions of the 19p13 chromosome. The exact number of functional copies is unclear, and some of them may represent pseudogenes.

9606:NINL
gene id: 9606:NINL
uniprot id: Q9Y2I6
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in KYSE-150 esophageal carcinoma, HeLa cervical carcinoma and U2OS osteosarcoma cells. Expression is regulated in a cell cycle-dependent manner and peaks during G2/M phase (at protein level). Expressed in fetal heart, skeletal muscle, liver, lung and cochlea, and in adult brain, testis, kidney and retina.
messages: Interacts with gamma-tubulin and TUBGCP4. Interacts with anaphase promoting complex/cyclosome (APC/C). Interacts with CDC20 and FZR1. Isoform 2 interacts with LCA5 and USH2A.
messages: Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis.
messages: Phosphorylated by PLK1 which disrupts its centrosome association and interaction with gamma-tubulin.
messages: The KEN and D (destructive) boxes are required for the cell cycle-controlled NINL degradation by the APC/C pathway.
messages: Ubiquitinated by the APC/C complex leading to its degradation.
messages: centrosome

9606:GNB3
gene id: 9606:GNB3
uniprot id: E9PCP0
uniprot id: F1T0G5
uniprot id: P16520
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
messages: Belongs to the WD repeat G protein beta family.
messages: G proteins are composed of 3 units, alpha, beta and gamma. Interacts with RASD2.
messages: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CREG1
gene id: 9606:CREG1
uniprot id: O75629
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CREG family.
messages: Homodimer. Interacts with IGF2R; the interaction is dependent on glycosylation.
messages: May contribute to the transcriptional control of cell growth and differentiation. Antagonizes transcriptional activation and cellular transformation by the adenovirus E1A protein. The transcriptional control activity of cell growth requires interaction with IGF2R.
messages: N-glycosylated.
messages: Secreted

9606:OSTC
gene id: 9606:OSTC
uniprot id: A0A024RDJ1
uniprot id: A0A087WUD3
uniprot id: Q9NRP0
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the OSTC family.
messages: Component of the oligosaccharyltransferase (OST) complex.
messages: Endoplasmic reticulum
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Specific component of the STT3A-containing form of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1.
messages: Specific component of the STT3A-containing form of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1.
messages: Specific component of the STT3A-containing form of the oligosaccharyltransferase (OST) complex (PubMed:31831667). OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits (PubMed:21768116, PubMed:31831667). STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Interacts with PSEN1 and NCSTN; indicative for an association with the gamma-secretase complex (PubMed:21768116).

9606:ND5
gene id: 9606:ND5
uniprot id: P03915
uniprot id: U5ZC31
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the complex I subunit 5 family.
messages: Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits.
messages: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:15250827). Essential for the catalytic activity and assembly of complex I (PubMed:15250827).
messages: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I.
messages: Membrane
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:FANCL
gene id: 9606:FANCL
uniprot id: Q9NW38
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Although PubMed:12724401 reports that it contains a PHD-type zinc finger, it contains a RING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity.
messages: Cytoplasm
messages: Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM (PubMed:12973351, PubMed:15502827, PubMed:16116422, PubMed:22343915). The complex is not found in FA patients. In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins (PubMed:18550849). Interacts with FANCI (PubMed:21775430). Directly interacts (via the RING-type zinc finger) with UBE2T and UBE2W (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:21775430, PubMed:24389026).
messages: Nucleus
messages: The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.
messages: The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.

9606:SNRPN
gene id: 9606:SNRPN
uniprot id: P63162
uniprot id: X5DP00
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the snRNP SmB/SmN family.
messages: Encoded on a bicistronic transcript that code for two proteins, SNRPN and SNURF.
messages: Expressed in brain and lymphoblasts.
messages: Interacts with TDRD3.
messages: May be involved in tissue-specific alternative RNA processing events.
messages: Nucleus
messages: Patients with the autoimmune disease systemic lupus erythematosus (SLE) have autoantibodies directed against some of the individual snRNP polypeptides. The most common autoantigen is called Sm. N bears Sm epitopes.

9606:UNC50
gene id: 9606:UNC50
uniprot id: A0A0S2Z612
uniprot id: J3KQ47
uniprot id: Q53HI1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the unc-50 family.
messages: Golgi apparatus membrane
messages: Involved in the cell surface expression of neuronal nicotinic receptors (By similarity). Binds RNA (By similarity).
messages: Membrane
messages: Nucleus inner membrane
messages: Present in periodontal ligament fibroblasts (at protein level).

9606:SCARA3
gene id: 9606:SCARA3
uniprot id: Q6AZY7
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Endoplasmic reticulum membrane
messages: Expressed ubiquitously.
messages: Golgi apparatus membrane
messages: Seems to protect cells by scavenging oxidative molecules or harmful products of oxidation.

9606:COQ2
gene id: 9606:COQ2
uniprot id: Q96H96
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the UbiA prenyltransferase family.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis (PubMed:15153069, PubMed:17374725, PubMed:16400613, PubMed:20526342). Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl donor (such as all-trans-decaprenyl diphosphate) (PubMed:15153069, PubMed:17374725, PubMed:16400613, PubMed:20526342). The length of the polyprenyl side chain varies depending on the species, in humans, the side chain is comprised of 10 isoprenyls (decaprenyl) producing CoQ10 (also known as ubiquinone), whereas rodents predominantly generate CoQ9 (PubMed:15153069, PubMed:16400613). However, this specificity is not complete, human tissues have low amounts of CoQ9 and rodent organs contain some CoQ10 (PubMed:15153069). Plays a central role in the biosynthesis of CoQ10 (PubMed:15153069, PubMed:17374725, PubMed:16400613). CoQ10 is a vital molecule that transports electrons from mitochondrial respiratory chain complexes (PubMed:17374725, PubMed:27493029, PubMed:16400613). CoQs also function as cofactors for uncoupling protein and play a role as regulators of the extracellularly-induced ceramide-dependent apoptotic pathway (PubMed:17374725, PubMed:16400613). Regulates mitochondrial permeability transition pore (mPTP) opening and ROS production (pivotal events in cell death) in a tissue specific manner (By similarity).
messages: Mitochondrion inner membrane
messages: Potential minor and functional isoform produced by alternative initiation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.

9606:OR4P4
gene id: 9606:OR4P4
uniprot id: Q8NGL7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:OR2B6
gene id: 9606:OR2B6
uniprot id: A0A126GW55
uniprot id: P58173
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:SLC29A2
gene id: 9606:SLC29A2
uniprot id: G5E943
uniprot id: Q14542
uniprot id: Q96FB2
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
messages: By PDGF/platelet derived growth factor and fibroblast growth factor (FGF).
messages: Expressed in skeletal muscle, liver, lung, placenta, brain, heart, kidney and ovarian tissues.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Very less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine.
messages: Membrane
messages: Nucleus membrane

9606:PSMD1
gene id: 9606:PSMD1
uniprot id: Q99460
names: Function
names: Sequence Caution
names: Similarity
names: Subunit
messages: Belongs to the proteasome subunit S1 family.
messages: Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits, a base containing 6 ATPases and few additional components including PSMD1 (PubMed:27428775, PubMed:27342858). Interacts with ADRM1 (PubMed:16990800, PubMed:16906146). Interacts with ZFAND1 (PubMed:29804830).
messages: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.
messages: Contaminating sequence. Potential poly-A sequence.

9606:NIPSNAP3A
gene id: 9606:NIPSNAP3A
uniprot id: Q9UFN0
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NipSnap family.
messages: Interacts with the Salmonella typhimurium virulence protein spiC.
messages: Ubiquitous. Highly expressed in liver, kidney and muscle. Expressed at intermediate level in brain, heart, colon, thymus, kidney, small intestine, placenta, lung, leukocytes and spleen.
messages: cytosol

9606:APLNR
gene id: 9606:APLNR
uniprot id: B2RDH3
uniprot id: B3KQN4
uniprot id: P35414
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection; may be involved in the development of AIDS dementia (PubMed:11090199).
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in heart, brain, kidney, stomach, spleen, thymus, lung, ovary, small intestine and colon, adipose tissues and pancreas (PubMed:8294032, PubMed:25639753). Expressed in glial cells, astrocytes and neuronal subpopulations (PubMed:8294032). Expressed in embryonic (ESCs) and induced (iPSCs) pluripotent stem cells (PubMed:25639753).
messages: Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity (PubMed:11090199, PubMed:25639753, PubMed:28137936). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Also plays a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936).

9606:ATRX
gene id: 9606:ATRX
uniprot id: A4LAA3
uniprot id: P46100
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SNF2/RAD54 helicase family.
messages: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
messages: Interacts with DAXX to form the chromatin remodeling complex ATRX:DAXX. Probably binds EZH2. Binds annexin V in a calcium and phosphatidylcholine/phosphatidylserine-dependent manner. Interacts directly with CBX5 via the PxVxL motif. Interacts with RAD50, MRE11 and NBN; indicative for an association with the MRN complex. Interacts with histone MACROH2A1. Interacts with histone H3 peptides methylated at 'Lys-10' with preferences H3K9me3 > H3K9me2 > H3K9me1. Interacts with histone H3 peptides unmethylated at 'Lys-5' (H3K4me0). Interacts with MECP2, SMC1 and SMC3. Interacts with SETDB1, TRIM28 and ZNF274 (PubMed:27029610).
messages: Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial …
messages: Many frameshifts and conflits.
messages: Nucleus
messages: PML body
messages: Phosphorylated at serine residues during mitose. Phosphorylation may promote the release from the nuclear matrix and progression to mitosis.
messages: The ADD domain predominantly interacts with histone H3 trimethylated at 'Lys-10'(H3K9me3) (and to a lesser extent H3 mono- or dimethylated at 'Lys-10') and simultanously to histone H3 unmethylated at 'Lys-5' (H3K4me0). The interaction with H3K9me3 is disrupted by the presence of H3K4me3 suggesting a readout of the combined histone H3 methylation state.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.
messages: telomere

9606:CCL7
gene id: 9606:CCL7
uniprot id: P80098
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the intercrine beta (chemokine CC) family.
messages: Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity. Also induces the release of gelatinase B. This protein can bind heparin. Binds to CCR1, CCR2 and CCR3.
messages: Monomer. Interacts with TNFAIP6 (via Link domain).
messages: O-glycosylated.
messages: Secreted

9606:BABAM1
gene id: 9606:BABAM1
uniprot id: A0A024R7L2
uniprot id: J3KQS6
uniprot id: Q9NWV8
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the BABAM1 family.
messages: Component of the ARISC complex, at least composed of UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:19261746, PubMed:19261749, PubMed:19261748, PubMed:21282113). In the BRCA1-A complex, interacts directly with ABRAXAS1 and BABAM2 (PubMed:19261749, PubMed:19261748). Component of the BRISC complex, at least composed of ABRAXAS2, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:19214193, PubMed:21282113, PubMed:24075985, PubMed:25283148). Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985).
messages: Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665). In these 2 complexes, it is probably required to maintain the stability of BABAM2 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).
messages: Cytoplasm
messages: Nucleus
messages: The VWFA-like region is similar to the VWFA domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes.

9606:ZBTB39
gene id: 9606:ZBTB39
uniprot id: O15060
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:OR51A7
gene id: 9606:OR51A7
uniprot id: Q8NH64
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:OSBPL11
gene id: 9606:OSBPL11
uniprot id: A0A140VJQ6
uniprot id: Q9BXB4
names: Developmental Stage
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the OSBP family.
messages: During adipocyte differentiation, levels are elevated two-fold (at protein level).
messages: Heterodimer with OSBPL9.
messages: Late endosome membrane
messages: Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage (PubMed:23028956). Weakly binds 25-hydroxycholesterol (PubMed:17428193).
messages: Present at highest levels in ovary, testis, kidney, liver, stomach, brain, and adipose tissue. Strong expression (at protein level) in epithelial cells of kidney tubules, testicular tubules, caecum, and skin (PubMed:20599956). Present at low levels in subcutaneous and visceral adipose tissue (at protein level)(PubMed:23028956).
messages: The PH domain binds phosphoinositides.
messages: trans-Golgi network membrane

9606:PML
gene id: 9606:PML
uniprot id: P29590
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Cleaved at two different sites by enterovirus 71 protease 3C, leading to impaired PML-Nuclear bodies formation.
messages: (Microbial infection) Immediate early protein IE1 of human cytomegalovirus (HHV-5) interferes with the sumoylation of PML (PubMed:15163746, PubMed:10233977, PubMed:27903803). Immediate early protein IE1 inhibits PML de novo sumoylation (PubMed:27903803).
messages: (Microbial infection) Interacts with Lassa virus Z protein and rabies virus phosphoprotein.
messages: (Microbial infection) Interacts with human cytomegalovirus (HHV-5) immediate early protein IE1; this interaction mediates PML desumoylation and PML-mediated sumoylation of IE1.
messages: (Microbial infection) Isoform PML-1 interacts with herpes simplex virus-1/HHV-1 ICP0.
messages: (Microbial infection) Isoform PML-2 interacts with human adenovirus 2 E1A and this interaction stimulates E1A-dependent transcriptional activation.
messages: (Microbial infection) Isoform PML-3 interacts (via RING-type zinc finger) with human foamy virus bel1/tas and bet.
messages: (Microbial infection) Isoform PML-4 and isoform PML-5 interact with human adenovirus 5 E1B-55K protein; these interactions promote efficient subnuclear targeting of E1B-55K to PML nuclear bodies.
messages: (Microbial infection) Isoform PML-4 interacts with VZV capsid protein VP26/ORF23 capsid protein.
messages: (Microbial infection) Isoform PML-6 interacts with moloney murine leukemia virus (MoMLV) integrase (IN) and reverse transcriptase (RT).
messages: (Microbial infection) The RING-type zinc finger is necessary for the sumoylation of human cytomegalovirus (HHV-5) immediate early protein IE1.
messages: (Microbial infection) The sumoylated isoform PML-4 interacts with encephalomyocarditis virus (EMCV) RNA-directed RNA polymerase 3D-POL (P3D-POL).
messages: A chromosomal aberration involving PML may be a cause of acute promyelocytic leukemia (APL). Translocation t(15;17)(q21;q21) with RARA. The PML breakpoints (type A and type B) lie on either side of an alternatively spliced exon.
messages: Acetylation at Lys-487 is essential for its nuclear localization. Deacetylated at Lys-487 by SIRT1 and this deacetylation promotes PML control of PER2 nuclear localization.
messages: Binds arsenic via the RING-type zinc finger.
messages: By interferons alpha, beta and gamma. Up-regulated by IRF3 and p53/TP53.
messages: Chimeric cDNA.
messages: Cytoplasm
messages: Early endosome membrane
messages: Endoplasmic reticulum membrane
messages: Exhibits antiviral activity against both DNA and RNA viruses. The antiviral activity can involve one or several isoform(s) and can be enhanced by the permanent PML-NB-associated protein DAXX or by the recruitment of p53/TP53 within these structures. Isoform PML-4 restricts varicella zoster virus (VZV) via sequestration of virion capsids in PML-NBs thereby preventing their nuclear egress and inhibiting formation of infectious virus particles. The sumoylated isoform PML-4 restricts rabies virus by inhibiting viral mRNA and protein synthesis. The cytoplasmic isoform PML-14 can restrict herpes simplex virus-1 (HHV-1) replication by sequestering the viral E3 ubiquitin-protein ligase ICP0 in the cytoplasm. Isoform PML-6 shows restriction activity towards human cytomegalovirus (HHV-5) and influenza A virus strains PR8(H1N1) and ST364(H3N2). Sumoylated isoform PML-4 and isoform PML-12 show antiviral activity against encephalomyocarditis virus (EMCV) by promoting nuclear sequestration of viral polymerase (P3D-POL) within PML NBs. Isoform PML-3 exhibits antiviral activity against poliovirus by inducing apoptosis in infected cells through the recruitment and the activation of p53/TP53 in the PML-NBs. Isoform PML-3 represses human foamy virus (HFV) transcription by complexing the HFV transactivator, bel1/tas, preventing its binding to viral DNA. PML may positively regulate infectious hepatitis C viral (HCV) production and isoform PML-2 may enhance adenovirus transcription. Functions as an E3 SUMO-protein ligase that sumoylates (HHV-5) immediate early protein IE1, thereby participating in the antiviral response (PubMed:20972456, PubMed:28250117). Isoforms PML-3 and PML-6 display the highest levels of sumoylation activity (PubMed:20972456, PubMed:28250117).
messages: Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions. Isoform PML-4 has a multifaceted role in the regulation of apoptosis and growth suppression: activates RB1 and inhibits AKT1 via interactions with PP1 and PP2A phosphatases respectively, negatively affects the PI3K pathway by inhibiting MTOR and activating PTEN, and positively regulates p53/TP53 by acting at different levels (by promoting its acetylation and phosphorylation and by inhibiting its MDM2-dependent degradation). Isoform PML-4 also: acts as a transcriptional repressor of TBX2 during cellular senescence and the repression is dependent on a functional RBL2/E2F4 repressor complex, regulates double-strand break repair in gamma-irradiation-induced DNA damage responses via its interaction with WRN, acts as a negative regulator of telomerase by interacting with TERT, and regulates PER2 nuclear localization and circadian function. Isoform PML-6 inhibits specifically the activity of the tetrameric form of PKM. The nuclear isoforms (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5) in concert with SATB1 are involved in local chromatin-loop remodeling and gene expression regulation at the MHC-I locus. Isoform PML-2 is required for efficient IFN-gamma induced MHC II gene transcription via regulation of CIITA. Cytoplasmic PML is involved in the regulation of the TGF-beta signaling pathway. PML also regulates transcription activity of ELF4 and can act as an important mediator for TNF-alpha- and IFN-alpha-mediated inhibition of endothelial cell network formation and migration.
messages: Key component of PML bodies. PML bodies are formed by the interaction of PML homodimers (via SUMO-binding motif) with sumoylated PML, leading to the assembly of higher oligomers. Several types of PML bodies have been observed. PML bodies can form hollow spheres that can sequester target proteins inside. Interacts (via SUMO-binding motif) with sumoylated proteins. Interacts (via C-terminus) with p53/TP53. Recruits p53/TP53 and CHEK2 into PML bodies, which promotes p53/TP53 phosphorylation at 'Ser-20' and prevents its proteasomal degradation. Interacts with MDM2, and sequesters MDM2 in the nucleolus, thereby preventing ubiquitination of p53/TP53. Interaction with PML-RARA oncoprotein and certain viral proteins causes disassembly of PML bodies and abolishes the normal PML function. Interacts with HIPK2, TERT, SIRT1, TOPBP1, TRIM27 and TRIM69. Interacts with ELF4 (via C-terminus). Interacts with ITPR3. Interacts (in the cytoplasm) with TGFBR1, TGFBR2 and PKM. Interacts (via the coiled-coil domain and when sumoylated) with SATB1. Interacts with UBE2I; the interaction is enhanced by arsenic binding. Interacts (PML-RARA oncoprotein, via the coiled-coil domain) with UBE2I; the interaction is enhanced by arsenic binding and is required for PML-RARA oncoprotein sumoylation and inhibition of RARA transactivational activity. Interacts with RB1, PPP1A, SMAD2, SMAD3, DAXX, RPL11 and MTOR. Interacts with PPARGC1A and KAT2A. Interacts with CSNK2A1 and CSNK2A3. Interacts with ANKRD2; the interaction is direct. Interacts (via SUMO-interacting motif) with sumoylated MORC3 (PubMed:20501696). Isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4, isoform PML-5 and isoform PML-6 interact with RNF4. Isoform PML-1 interacts with NLRP3. Isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5 interact with MAGEA2, RBL2, PER2 and E2F4. Isoform PML-2 interacts with CIITA. Isoform PML-2, isoform PML-3 and isoform PML-4 interact with TBX2. Isoform PML-4 interacts with R…
messages: Non-canonical splice sites. Might alternatively represent a polymorphic variation.
messages: Nucleus
messages: PML body
messages: Phosphorylation is a major regulatory mechanism that controls PML protein abundance and the number and size of PML nuclear bodies (PML-NBs). Phosphorylated in response to DNA damage, probably by ATR. HIPK2-mediated phosphorylation at Ser-8, Ser-36 and Ser-38 leads to increased accumulation of PML protein and its sumoylation and is required for the maximal pro-apoptotic activity of PML after DNA damage. CHEK2-mediated phosphorylation at Ser-117 is important for PML-mediated apoptosis following DNA damage. MAPK1-mediated phosphorylations at Ser-403, Ser-505, Ser-527 and Ser-530 and CDK1/2-mediated phosphorylation at Ser-518 promote PIN1-dependent PML degradation. CK2-mediated phosphorylation at Ser-565 primes PML ubiquitination via an unidentified ubiquitin ligase.
messages: Sumoylation regulates PML's: stability in response to extracellular or intracellular stimuli, transcription directly and indirectly, through sequestration of or dissociation of the transcription factors from PML-NBs, ability to regulate apoptosis and its anti-viral activities. It is also essential for: maintaining proper PML nuclear bodies (PML-NBs) structure and normal function, recruitment of components of PML-NBs, the turnover and retention of PML in PML-NBs and the integrity of PML-NBs. Undergoes 'Lys-11'-linked sumoylation. Sumoylation on all three sites (Lys-65, Lys-160 and Lys-490) is required for nuclear body formation. Sumoylation on Lys-160 is a prerequisite for sumoylation on Lys-65. Lys-65 and Lys-160 are sumoylated by PISA1 and PIAS2. PIAS1-mediated sumoylation of PML promotes its interaction with CSNK2A1/CK2 and phosphorylation at Ser-565 which in turn triggers its ubiquitin-mediated degradation. PIAS1-mediated sumoylation of PML-RARA promotes its ubiquitin-mediated degradation. The PML-RARA fusion protein requires the coiled-coil domain for sumoylation. Sumoylation at Lys-490 by RANBP2 is essential for the proper assembly of PML-NBs. SUMO1P1/SUMO5 conjugated PML at Lys-160, Lys-380, Lys-400, Lys-490 and Lys-497, but Lys-380, Lys-400 and Lys-497 are not key acceptor lysines. SUMO1P1/SUMO5 forms polymeric chain on Lys-160 of PML by successive conjugation at 'Lys-18'; facilitating recruitment of PML-NB components, which enlarges PML. SUMO1P1/SUMO5 conjugation of PML increases SUMO2/3 conjugation, which leads to the recruitment of RNF4 and ubiquitin-dependent disintegration of PML-NBs. SUMO1P1/SUMO5 monoconjugated Lys-490 (PubMed:27211601). DNA damage triggers its sumoylation while some but not all viral infections can abolish sumoylation. Desumoylated by SENP1, SENP2, SENP3, SENP5 and SENP6 (PubMed:27211601, PubMed:12419228, PubMed:21148299). Arsenic induces PML and PML-RARA polysumoylation and their subsequent RNF4-dependent ubiquitination and proteasom…
messages: The B box-type zinc binding domain and the coiled-coil domain mediate its interaction with PIAS1.
messages: The Sumo interaction motif (SIM) is required for efficient ubiquitination, recruitment of proteasome components within PML-NBs and PML degradation in response to arsenic trioxide.
messages: The coiled-coil domain mediates a strong homo/multidimerization activity essential for core assembly of PML-NBs. Interacts with PKM via its coiled-coil domain (PubMed:18298799).
messages: The unique C-terminal domains of isoform PML-2 and isoform PML-5 play an important role in regulating the localization, assembly dynamics, and functions of PML-NBs.
messages: Ubiquitinated; mediated by RNF4, RNF111, UHRF1, UBE3A/E6AP, BCR(KLHL20) E3 ubiquitin ligase complex E3 ligase complex, SIAH1 or SIAH2 and leading to subsequent proteasomal degradation (PubMed:18408734, PubMed:21840486, PubMed:22033920). Ubiquitination by BCR(KLHL20) E3 ubiquitin ligase complex E3 ligase complex requires CDK1/2-mediated phosphorylation at Ser-518 which in turn is recognized by prolyl-isopeptidase PIN1 and PIN1-catalyzed isomerization further potentiates PML interaction with KLHL20 (PubMed:21840486, PubMed:22033920). 'Lys-6'-, 'Lys-11'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination by RNF4 is polysumoylation-dependent (PubMed:18408734). Ubiquitination by RNF111 is polysumoylation-dependent (By similarity).
messages: nucleolus
messages: nucleoplasm

9606:DEPDC5
gene id: 9606:DEPDC5
uniprot id: O75140
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant splicing.
messages: As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.
messages: Belongs to the IML1 family.
messages: Expressed in developing and adult brain.
messages: Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins, including DEPDC5, are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation following amino acid withdrawal (PubMed:23723238).
messages: Lysosome membrane
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: The DEP domain mediates the interaction with KLHL22.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated. Amino acid-induced 'Lys-48'-linked polyubiquitination of DEPDC5 by the BCR(KLHL22) ubiquitin ligase complex leads to DEPDC5 proteasomal degradation and inhibition of the GATOR1 complex (PubMed:29769719). Ubiquitination may occur at multiple lysines (PubMed:29769719).
messages: Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with RRAGA/RRAGC and RRAGB/RRAGC heterodimers. Interacts (via DEP domain) with KLHL22; the interaction depends on amino acid availability (PubMed:29769719).
messages: cytosol
messages: perinuclear region

9606:GMNN
gene id: 9606:GMNN
uniprot id: A0A024QZY7
uniprot id: O75496
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Absent during G1 phase, accumulates during S, G2, and M phases, and disappears at the time of the metaphase-anaphase transition.
messages: Belongs to the geminin family.
messages: Cytoplasm
messages: Homotetramer (PubMed:15313623, PubMed:15260975, PubMed:15378034, PubMed:19906994). Interacts with CDT1; this inhibits binding of the MCM complex to origins of replication (PubMed:14993212, PubMed:21543332, PubMed:15260975, PubMed:19906994). The complex with CDT1 exists in two forms, a 'permissive' heterotrimer and an 'inhibitory' heterohexamer (PubMed:14993212, PubMed:15260975, PubMed:19906994). Interacts (via coiled-coil domain) with IDAS (via coiled-coil domain); this targets GMNN to the nucleus (PubMed:21543332). The heterodimer formed by GMNN and MCIDAS has much lower affinity for CDT1 than the GMNN homodimer (PubMed:24064211). Interacts with a subset of Hox proteins, affinity increasing from anterior to posterior types, the strongest interaction being with HOXB1, HOXC9 and HOXD10 (PubMed:22615398). Interacts with LRWD1 from G1/S to mitosis (PubMed:22645314).
messages: Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC) (PubMed:9635433, PubMed:14993212, PubMed:20129055, PubMed:24064211). It is degraded during the mitotic phase of the cell cycle (PubMed:9635433, PubMed:14993212, PubMed:24064211). Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle (PubMed:9635433, PubMed:14993212, PubMed:24064211). Inhibits histone acetyltransferase activity of KAT7/HBO1 in a CDT1-dependent manner, inhibiting histone H4 acetylation and DNA replication licensing (PubMed:20129055). Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control (PubMed:22615398).
messages: Nucleus
messages: Phosphorylated during mitosis. Phosphorylation at Ser-184 by CK2 results in enhanced binding to Hox proteins and more potent inhibitory effect on Hox transcriptional activity.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MALSU1
gene id: 9606:MALSU1
uniprot id: Q96EH3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associates with the mitochondrial ribosome large subunit (39S) via interaction with MRPL12 and/or MRPL14 (PubMed:22238375, PubMed:23171548, PubMed:28892042). The interaction generates steric hindrance that is expected to prevent premature association of the 28S and 39S ribosomal subunits (PubMed:28892042). Identified in a complex composed of MALSU1, MIEF1 upstream open reading frame protein and NDUFAB1; within the trimeric complex, MIEF1 upstream open reading frame protein functions as a bridging scaffold that interacts with MALSU1 on one side, and with NDUFAB1 on the other side (PubMed:28892042). Interacts with MRPL12 and MRPL14 (PubMed:23171548, PubMed:22829778, PubMed:22238375).
messages: Belongs to the Iojap/RsfS family.
messages: Mitochondrion matrix
messages: Required for normal mitochondrial ribosome function and mitochondrial translation (PubMed:22238375, PubMed:23171548). May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable). Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits (Probable). Addition to isolated mitochondrial ribosomal subunits partially inhibits translation, probably by interfering with the association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes (Probable). May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome (PubMed:22238376, PubMed:23171548). May function as a ribosomal silencing factor (Probable).

9606:ATP5MJ
gene id: 9606:ATP5MJ
uniprot id: P56378
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the small mitochondrial proteolipid family.
messages: Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MK and ATP5MJ.
messages: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). Minor subunit required to maintain the ATP synthase population in the mitochondria (PubMed:24330338).
messages: Mitochondrion membrane

9606:PLCG2
gene id: 9606:PLCG2
uniprot id: P16885
names: Disease Annotation
names: Function
names: PTM
names: Subunit
messages: Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated). Interacts constitutively with THEMIS2.
messages: Phosphorylated on tyrosine residues by CSF1R (By similarity). Phosphorylated on tyrosine residues by BTK and SYK; upon ligand-induced activation of a variety of growth factor receptors and immune system receptors. Phosphorylation leads to increased phospholipase activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling.

9606:GLTP
gene id: 9606:GLTP
uniprot id: Q9NZD2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides.
messages: Belongs to the GLTP family.
messages: Cytoplasm
messages: Detected in fibroblasts (at protein level). Detected in fibroblasts and in various cancer cell lines.
messages: Monomer.

9606:TFF2
gene id: 9606:TFF2
uniprot id: Q03403
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Inhibits gastrointestinal motility and gastric acid secretion. Could function as a structural component of gastric mucus, possibly by stabilizing glycoproteins in the mucus gel through interactions with carbohydrate side chains (By similarity).
messages: Secreted
messages: Stomach.

9606:B3GNT8
gene id: 9606:B3GNT8
uniprot id: Q7Z7M8
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 31 family.
messages: Beta-1,3-N-acetylglucosaminyltransferase that plays a role in the elongation of specific branch structures of multiantennary N-glycans. Has strong activity towards tetraantennary N-glycans and 2,6 triantennary glycans.
messages: Golgi apparatus membrane
messages: Highly expressed in small intestine, pancreas, spleen, bone marrow, lung, throat, and ileum, and weakly in fetal brain, cerebellum, heart, liver, tongue, breast, uteri, and testis. Not detected in colon. Differentially expressed in human tumor cell lines.
messages: Interacts with B3GNT2; this interaction greatly increases B3GNT2 catalytic activity, independently of B3GNT8 enzymatic activity.
messages: Up-regulated in colon cancer.

9606:ILRUN
gene id: 9606:ILRUN
uniprot id: Q9H6K1
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in lung (at protein level).
messages: Expression is icreased in presence of dsRNA such as poly(I:C).
messages: Interacts with IRF3; the interaction inhibits IRF3 binding to its DNA consensus sequence.
messages: Negative regulator of innate antiviral response. Blocks IRF3-dependent cytokine production such as IFNA, IFNB and TNF (PubMed:29802199). Interacts with IRF3 and inhibits IRF3 recruitment to type I IFN promoter sequences while also reducing nuclear levels of the coactivators EP300 and CREBBP (PubMed:29802199).
messages: Nucleus

9606:SGPP2
gene id: 9606:SGPP2
uniprot id: Q8IWX5
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the type 2 lipid phosphate phosphatase family.
messages: Endoplasmic reticulum membrane
messages: Expressed strongly in kidney and heart, followed by brain, colon, small intestine and lung. Not detected in skeletal muscle, thymus, spleen, liver, placenta, and peripheral blood leukocytes.
messages: Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro (PubMed:12411432). Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway (By similarity). May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling (PubMed:17113265). Plays a role in the regulation of pancreatic islet beta-cell endoplasmic reticulum stress and proliferation (By similarity).
messages: Strongly induced by TNF, also induced by bacterial lipopolycaccharides (LPS) in neutrophils, endothelial cells, and other cell types. Not induced by growth-related factors.

9606:ORM2
gene id: 9606:ORM2
uniprot id: P19652
names: Domain
names: Function
names: Induction
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the calycin superfamily. Lipocalin family.
messages: Contains a beta-barrel that binds various ligands in its interior.
messages: Expressed by the liver and secreted in plasma.
messages: Functions as transport protein in the blood stream. Binds various hydrophobic ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability. Appears to function in modulating the activity of the immune system during the acute-phase reaction.
messages: Many different variants of ORM2 are known.
messages: N-glycosylated. N-glycan heterogeneity at Asn-33: Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor).
messages: Secreted
messages: Synthesis is controlled by glucocorticoids, interleukin-1 and interleukin-6, It increases 5- to 50-fold upon inflammation.

9606:PSMA4
gene id: 9606:PSMA4
uniprot id: H0YLC2
uniprot id: H0YN18
uniprot id: P25789
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interaction with HTLV-1 TAX protein favors NFKB1 activation.
messages: Belongs to the peptidase T1A family.
messages: Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).
messages: Cytoplasm
messages: Down-regulated by antioxidants BO-653 and probucol.
messages: Nucleus
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits.
messages: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7.

9606:MRGPRX2
gene id: 9606:MRGPRX2
uniprot id: Q96LB1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family. Mas subfamily.
messages: Cell membrane
messages: Mainly expressed in mast cells. Has a limited expression profile, both peripheral and within the central nervous system, with highest levels in dorsal root ganglion (PubMed:12915402). Detected in blood vessels, scattered lymphocytes, and gastrointestinal ganglia (at protein level) (PubMed:16161007).
messages: Mast cell-specific receptor for basic secretagogues, i.e. cationic amphiphilic drugs, as well as endo- or exogenous peptides, consisting of a basic head group and a hydrophobic core (PubMed:25517090). Recognizes and binds small molecules containing a cyclized tetrahydroisoquinoline (THIQ), such as non-steroidal neuromuscular blocking drugs (NMBDs), including tubocurarine and atracurium. In response to these compounds, mediates pseudo-allergic reactions characterized by histamine release, inflammation and airway contraction (By similarity). Acts as a receptor for a number of other ligands, including peptides and alkaloids, such as cortistatin-14, proadrenomedullin N-terminal peptides PAMP-12 and, at lower extent, PAMP-20, antibacterial protein LL-37, PMX-53 peptide, beta-defensins, and complanadine A.

9606:POLR3GL
gene id: 9606:POLR3GL
uniprot id: A6NGX6
uniprot id: Q9BT43
names: Developmental Stage
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the eukaryotic RPC7 RNA polymerase subunit family.
messages: Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity). Found a trimeric complex with POLR3C and POLR3G (PubMed:24107381). Directly interacts with POLR3C (PubMed:21358628, PubMed:24107381, PubMed:26394183).
messages: Component of the RNA polymerase III (Pol III) complex.
messages: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.
messages: Nucleus
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Up-regulated in embryonic stem cells upon retinoic acid-induced differentiation into embroid bodies (at protein level) (PubMed:28494942). No significant changes in mRNA levels between dividing and non-dividing cells, although levels tends to be slightly higher in non-dividing cells (PubMed:20154270, PubMed:24107381).
messages: Widely expressed.

9606:DDX54
gene id: 9606:DDX54
uniprot id: Q8TDD1
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DEAD box helicase family. DDX54/DBP10 subfamily.
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Expressed in the fallopian tube, cervix and uterus. Also expressed in the brain.
messages: Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors.
messages: Interacts in a hormone-dependent manner with nuclear receptors.
messages: nucleolus

9606:ZSCAN22
gene id: 9606:ZSCAN22
uniprot id: P10073
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:TBX1
gene id: 9606:TBX1
uniprot id: D9ZGG0
uniprot id: O43435
uniprot id: Q152R5
names: Caution
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Binds DNA as a dimer (PubMed:11111039). Interacts with DSCR6 (By similarity).
messages: Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Nucleus
messages: Probable transcriptional regulator involved in developmental processes (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence (PubMed:11111039). Is required for normal development of the pharyngeal arch arteries (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PIK3CB
gene id: 9606:PIK3CB
uniprot id: B4DER4
uniprot id: B4DZI3
uniprot id: P42338
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylation at Ser-1070 negatively regulates the phosphatidylinositol-4,5-bisphosphate 3-kinase activity.
messages: Belongs to the PI3/PI4-kinase family.
messages: Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.
messages: Cytoplasm
messages: Expressed ubiquitously.
messages: Heterodimer of a catalytic subunit PIK3CB and a p85 regulatory subunit (PIK3R1, PIK3R2 or PIK3R3). Interaction with PIK3R2 is required for nuclear localization and nuclear export. Part of a complex with PIK3R1 and PTEN. Binding to PTEN may antagonize the lipid kinase activity under normal growth conditions. Part of a complex involved in autophagosome formation composed of PIK3C3 and PIK3R4 (By similarity). Interacts with BECN1, ATG14 and RAB5A (By similarity).
messages: Nucleus
messages: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation by G-protein coupled receptors (GPCRs) ligands such as CXCL12, sphingosine 1-phosphate, and lysophosphatidic acid. May also act downstream receptor tyrosine kinases. Required in different signaling pathways for stable platelet adhesion and aggregation. Plays a role in platelet activation signaling triggered by GPCRs, alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) and ITAM (immunoreceptor tyrosine-based activation motif)-bearing receptors such as GP6. Regulates the strength of adhesion of ITGA2B/ ITGB3 activated receptors necessary for the cellular transmission of contractile forces. Required for platelet aggregation induced by F2 (thrombin) and thromboxane A2 (TXA2). Has a role in cell survival. May have a role in cell migration. Involved in the early stage of autophagosome formation. Modulates the intracellular level of PtdIns3P (phosphatidylinositol 3-phosphate) and activates PIK3C3 kinase activity. May act as a scaffold, independently of its lipid kinase activity to positively regulate autophagy. May have a role in insulin signaling as scaffolding protein in which the lipid kinase activity is not required. May have a kinase-independent function in regulating cell proliferation and in clathrin-mediated endocytosis. Mediator of oncogenic signal in cell lines lacking PTEN. The lipid kinase activity is necessary for its role in oncogenic transformation. Required for the growth of ERBB2 and RAS driven tum…
messages: The inhibitory interactions with PIK3R1 are mediated by the PI3K-ABD domain and the C2 PI3K-type domain with the iSH2 (inter-SH2) region of PIK3R1; the C2 PI3K-type domain, the PI3K helical domain, and the PI3K/PI4K kinase domain with the nSH2 (N-terminal SH2) region of PIK3R1; and the PI3K/PI4K kinase domain with the cSH2 (C-terminal SH2) region of PIK3R1. The inhibitory interaction between the PI3K-ABD domain and the C2 PI3K-type domain with the iSH2 (inter-SH2) region of PIK3R1 is weak. The nuclear localization signal (NLS) is required for its function in cell survival.

9606:TSPAN2
gene id: 9606:TSPAN2
uniprot id: B1AKP1
uniprot id: B2RD31
uniprot id: O60636
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the tetraspanin (TM4SF) family.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: May play a role in signalling in oligodendrocytes in the early stages of their terminal differentiation into myelin-forming glia and may also function in stabilizing the mature sheath.
messages: Membrane

9606:ATP2B1
gene id: 9606:ATP2B1
uniprot id: A0A024RBC7
uniprot id: P20020
names: Caution
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
messages: Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511). May play a role in synaptic transmission by modulating calcium and proton dynamics at the synaptic vesicles.
messages: Catalyzes the hydrolysis of ATP coupled with the transport of calcium.
messages: Cell membrane
messages: Isoform B: Ubiquitously expressed. Isoform C: Found in brain cortex, skeletal muscle and heart muscle. Isoform D: Has only been found in fetal skeletal muscle. Isoform K: Found in small intestine and liver. Abundantly expressed in the endometrial epithelial cells and glandular epithelial cells in early-proliferative phase and early-secretory phases (PubMed:21400627).
messages: Isoforms A, C, D and E contain an additional calmodulin-binding subdomain B which is different in the different splice variants and shows pH dependent calmodulin binding properties.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Lateral cell membrane
messages: Membrane
messages: Monomer (PubMed:1332771). Dimer (PubMed:1332771). Oligomer (PubMed:1332771). Calmodulin binding (PubMed:1332771). Interacts with PDZD11 (PubMed:12763866). Interacts with SLC35G1 and STIM1; inhibits calcium-transporting ATPase activity after store depletion (PubMed:22084111). Interacts with YWHAE; interacts with the monomeric and dimeric forms of the YWHAE but prefer the monomer form; this interaction inhibits calcium-transporting ATPase activity (PubMed:18029012). Interacts with NPTN; this interaction stabilizes ATP2B1 and increases ATPase activity; this interaction controls T cell calcium homeostasis following T cell activation (PubMed:30190470). Interacts with EPB41; regulates small intestinal calcium absorption through regulation of membrane expression of ATP2B1 (By similarity).
messages: Presynaptic cell membrane
messages: Synapse
messages: Synaptic cell membrane
messages: Up-regulated at the proliferative phase of the mentrual cycle. Up-regulated by estrogen.
messages: synaptic vesicle membrane

9606:ZNF333
gene id: 9606:ZNF333
uniprot id: Q96JL9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Highly expressed in heart.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:C12orf57
gene id: 9606:C12orf57
uniprot id: F5GXW5
uniprot id: Q99622
uniprot id: U3KQ85
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the UPF0456 family.
messages: Cytoplasm
messages: In brain, may be required for corpus callosum development.
messages: The disease is caused by variants affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed.
messages: Ubiquitously expressed, with higher expression in lung and fetal brain.

9606:MAP4K2
gene id: 9606:MAP4K2
uniprot id: A0A024R567
uniprot id: Q12851
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autophosphorylated in response to tumor necrosis factor (TNF), endotoxins or pro-inflammatory stimuli. Autophosphorylation leads to activation.
messages: Basolateral cell membrane
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Cytoplasm
messages: Golgi apparatus membrane
messages: Highly expressed in germinal center but not mantle zone B-cells. Also expressed in lung, brain and placenta and at lower levels in other tissues examined.
messages: Interacts with TRAF2, TRAF6, MAP3K1/MEKK1 and MAP3K11/MLK3. Interacts with RAB8A (By similarity).
messages: May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.
messages: Polyubiquitinated through 'Lys-48'-polyubiquitin chains, allowing proteasomal turnover. Ubiquitination requires the kinase activity of MAP4K2/GCK.
messages: Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidine (poly(IC)), lipopolysaccharides (LPS), lipid A, peptidoglycan (PGN), or bacterial flagellin. To a lesser degree, IL-1 and engagement of CD40 also stimulate MAP4K2-mediated JNKs activation. The requirement for MAP4K2/GCK is most pronounced for LPS signaling, and extends to LPS stimulation of c-Jun phosphorylation and induction of IL-8. Enhances MAP3K1 oligomerization, which may relieve N-terminal mediated MAP3K1 autoinhibition and lead to activation following autophosphorylation. Mediates also the SAP/JNK signaling pathway and the p38 MAPKs signaling pathway through activation of the MAP3Ks MAP3K10/MLK2 and MAP3K11/MLK3. May play a role in the regulation of vesicle targeting or fusion. regulation of vesicle targeting or fusion.
messages: The PEST domains are Pro-, Glu-, Ser-, and Thr-rich domains. Proteins with PEST domains are frequently targets of degradation by the ubiquitin proteasome.
messages: The tumor necrosis factor (TNF), as well as endotoxins and pro-inflammatory stimuli such as polyinosine-polycytidine (poly(IC)), lipopolysaccharides (LPS), peptidoglycan (PGN), flagellin, or lipid A activate MAP4K2 by promoting its autophosphorylation.

9606:SLC38A2
gene id: 9606:SLC38A2
uniprot id: Q96QD8
names: Activity Regulation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the amino acid/polyamine transporter 2 family.
messages: Cell membrane
messages: Inhibited by N-methyl-D-glucamine (PubMed:10930503). Inhibited by choline. Allosteric regulation of sodium ions binding by pH (By similarity).
messages: Polyubiquitination by NEDD4L regulates the degradation and the activity of SLC38A2.
messages: Symporter that cotransports neutral amino acids and sodium ions from the extraccellular to the intracellular side of the cell membrane (PubMed:10930503, PubMed:15922329, PubMed:16621798, PubMed:15774260). The trasnport is pH-sensitive, Li(+)-intolerant, electrogenic, driven by the Na(+) electrochemical gradient and cotransports of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood-brain barrier (PubMed:10930503, PubMed:15774260). May function in the transport of amino acids in the supply of maternal nutrients to the fetus through the placenta (By similarity). Maintains a key metabolic glutamine/glutamate balance underpinning retrograde signaling by dendritic release of the neurotransmitter glutamate (By similarity). Transports L-proline in differentiating osteoblasts for the efficient synthesis of proline-enriched proteins and provides proline essential for osteoblast differentiation and bone formation during bone development (By similarity).
messages: The extracellular C-terminal domain controls the voltage dependence for amino acid transports activity.
messages: Ubiquitously expressed (PubMed:10930503). Expressed in neocortex (PubMed:16616430). Widely expressed in the central nervous system with higher concentrations in caudal regions. Expressed by glutamatergic and GABAergic neurons together with astrocytes and other non-neuronal cells in the cerebral cortex (at protein level) (PubMed:15774260).
messages: Up-regulated upon amino acid deprivation (PubMed:14623874, PubMed:16621798, PubMed:15774260). Up-regulated upon hypertonic conditions (PubMed:15922329, PubMed:16621798).

9606:TEKT3
gene id: 9606:TEKT3
uniprot id: Q9BXF9
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the tektin family.
messages: May be proteolytically processed during the epididymal transit of spermatozoa.
messages: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Forms filamentous polymers in the walls of ciliary and flagellar microtubules (By similarity). Required for normal sperm mobility (By similarity).
messages: N- and O-glycosylated.
messages: acrosome outer membrane
messages: cilium axoneme
messages: flagellum

9606:TESK2
gene id: 9606:TESK2
uniprot id: Q96S53
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activated by autophosphorylation on Ser-219.
messages: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
messages: Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Phosphorylates cofilin at 'Ser-3'. May play an important role in spermatogenesis.
messages: Nucleus
messages: Predominantly expressed in testis and prostate. Found predominantly in non-germinal Sertoli cells.

9606:SYP
gene id: 9606:SYP
uniprot id: P08247
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the synaptophysin/synaptobrevin family.
messages: Expressed in the brain, with expression in the hippocampus, the neuropil in the dentate gyrus, where expression is higher in the outer half of the molecular layer than in the inner half, and in the neuropil of CA4 and CA3 (PubMed:8838578). Expressed in the putamen (at protein level) (PubMed:17296554).
messages: Homohexamer or homotetramer. Interacts with SRCIN1 (PubMed:18662323). Interacts with VAMP2; the interaction is inhibit by interaction of VAPM2 with SEPT8 (By similarity).
messages: Phosphorylated by SRC.
messages: Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity).
messages: The calcium-binding activity is thought to be localized in the cytoplasmic tail of the protein.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.
messages: synaptic vesicle membrane
messages: synaptosome

9606:FLYWCH1
gene id: 9606:FLYWCH1
uniprot id: Q4VC44
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with CTNNB1 (when unphosphorylated), perhaps preventing interaction of CTNNB1 with TCF4, and thereby regulating transcription activation; phosphorylation of CTNNB1 may inhibit the interaction.
messages: Nucleus
messages: Transcription cofactor (PubMed:30097457). Negatively regulates transcription activation by catenin beta-1 CTNNB1, perhaps acting by competing with TCF4 for CTNNB1 binding (PubMed:30097457). May play a role in DNA-damage response signaling (PubMed:33924684). Binds specifically to DNA sequences at peri-centromeric chromatin loci.
messages: Up-regulated by ultraviolet (UV) light (at protein level).
messages: centromere

9606:PLD6
gene id: 9606:PLD6
uniprot id: Q8N2A8
names: Activity Regulation
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the phospholipase D family. MitoPLD/Zucchini subfamily.
messages: Evidence for subcellular location in the Golgi was determined in pachytene spermatocytes and spermatids in mouse testes. They observe that the ectopically expressed PLD6 protein was localized to the mitochondria in PLD6-transfected cells. Authors claim a possible explanation for the contradictory results is that previous studies have reported the localization of exogenous PLD6, but not endogenous PLD6, in cultured cells. The reason for differences observed in subcellular localization of exogenous and endogenous PLD6 is not clear but one attributable reason may be that different types of anti-PLD6 antibodies have been used in previous studies.
messages: Golgi apparatus
messages: Homodimer (PubMed:17028579). Interacts with MOV10L1 (By similarity). Interacts with MIGA1 and MIGA2; possibly facilitating homodimer formation (PubMed:26711011). Interacts with GK2 (PubMed:28852571).
messages: In contrast to other members of the phospholipase D family, contains only one PLD phosphodiesterase domain, suggesting that it has a single half-catalytic and requires homodimerization to form a complete active site.
messages: MYC stimulates its phospholipase activity (PubMed:26678338). MIGA1 and MIGA2 increase PLD6 self-association affinity and affects the homodimer conformation facilitating its phospholipase activity over the nuclease activity (PubMed:26711011). Single stranded DNA (ssDNA) hydrolase activity does not depend upon, but is stimulated by the presence of Ca(2+) and Mn(2+) (By similarity).
messages: Mitochondrion outer membrane
messages: Predominantly expressed in testis and ovary, but not limited to gonads (at protein level) (PubMed:17028579, PubMed:21397847). It is also found in brain, heart, pituitary gland, prostate, pancreas, thyroid, bone marrow, lung and muscle (PubMed:21397847).
messages: Presents phospholipase and nuclease activities, depending on the different physiological conditions (PubMed:17028579, PubMed:21397847, PubMed:28063496). Interaction with Mitoguardin (MIGA1 or MIGA2) affects the dimer conformation, facilitating the lipase activity over the nuclease activity (PubMed:26711011). Plays a key role in mitochondrial fusion and fission via its phospholipase activity (PubMed:17028579, PubMed:24599962, PubMed:26678338). In its phospholipase role, it uses the mitochondrial lipid cardiolipin as substrate to generate phosphatidate (PA or 1,2-diacyl-sn-glycero-3-phosphate), a second messenger signaling lipid (PubMed:17028579, PubMed:26711011). Production of PA facilitates Mitofusin-mediated fusion, whereas the cleavage of PA by the Lipin family of phosphatases produces diacylgycerol (DAG) which promotes mitochondrial fission (PubMed:24599962). Both Lipin and DAG regulate mitochondrial dynamics and membrane fusion/fission, important processes for adapting mitochondrial metabolism to changes in cell physiology. Mitochondrial fusion enables cells to cope with the increased nucleotide demand during DNA synthesis (PubMed:26678338). Mitochondrial function and dynamics are closely associated with biological processes such as cell growth, proliferation, and differentiation (PubMed:21397848). Mediator of MYC activity, promotes mitochondrial fusion and activates AMPK which in turn inhibits YAP/TAZ, thereby inducing cell growth and proliferation (PubMed:26678338). The endonuclease activity plays a critical role in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis (PubMed:21397847, PubMed:21397848). Implicated in spermatogenesis and sperm fertility in testicular germ cells, its single strand-specific nuclease activity is critical for the biogenesis/maturation of PIWI-interacting RNA (piRNA). MOV10L1 selectively binds to piRNA precursors and funnels them to the endonuclease that catalyzes the first cleavage step of piRNA processing to generate piR…

9606:PCED1B
gene id: 9606:PCED1B
uniprot id: Q96HM7
names: Sequence Caution
names: Similarity
messages: Belongs to the PC-esterase family.
messages: Non-canonical splice intron-exon junction.

9606:SLC25A17
gene id: 9606:SLC25A17
uniprot id: B4DP73
uniprot id: B4DU97
uniprot id: F6RTR7
uniprot id: O43808
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the mitochondrial carrier (TC 2.A.29) family.
messages: Cytoplasm
messages: Interacts (via N- and C-terminus peroxisomal targeting regions) with PEX19; the interaction occurs with the newly synthesized SLC25A17 in the cytosol.
messages: Membrane
messages: Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro.
messages: Peroxisome membrane
messages: The N- and C-terminal portions are exposed to the cytoplasm. Lacks a typical peroxisomal sorting signal. A region between helical transmembrane domains (TM) 4 and 5 and TM1-TM3 or TM4-TM6 are necessary for the peroxisome-targeting activity.
messages: Ubiquitous. Expressed in liver.
messages: Was first identified as a peroxisomal ATP transporter (PubMed:12445829). However, later experiments showed that it acts as a peroxisomal transporter for multiple cofactors (PubMed:22185573).

9606:VPS18
gene id: 9606:VPS18
uniprot id: A0A024R9R3
uniprot id: Q9P253
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the VPS18 family.
messages: Core component of at least two putative endosomal tethering complexes, the homotypic fusion and vacuole protein sorting (HOPS) complex and the class C core vacuole/endosome tethering (CORVET) complex. Their common core is composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, which in HOPS further associates with VPS39 and VPS41 and in CORVET with VPS8 and TGFBRAP1 (PubMed:23351085, PubMed:25783203, PubMed:23901104). Interacts with RAB5C (By similarity). Interacts with HOOK1 (By similarity). Interacts with STX7, MON1B (PubMed:20434987, PubMed:24554770). Associates with adaptor protein complex 3 (AP-3) and clathrin:AP-3 complexes (By similarity). Interacts with SYNPO2 (PubMed:23434281). Interacts with PLEKHM1 (PubMed:28325809).
messages: Early endosome
messages: Late endosome membrane
messages: Lysosome membrane
messages: Membrane
messages: Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203). Involved in dendrite development of Pukinje cells (By similarity).
messages: Ubiquitous. Expression was highest in heart and low in lung.
messages: Unlikely isoform. Aberrant splice sites.
messages: autophagosome
messages: clathrin-coated vesicle

9606:MSH3
gene id: 9606:MSH3
uniprot id: P20585
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subunit
messages: Belongs to the DNA mismatch repair MutS family. MSH3 subfamily.
messages: Component of the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). Heterodimer consisting of MSH2-MSH3 (MutS beta) (PubMed:8942985). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1 (PubMed:11427529). Interacts with MCM9 (PubMed:26300262).
messages: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:LRRN3
gene id: 9606:LRRN3
uniprot id: Q9H3W5
names: Subcellular Location Annotation
messages: Membrane

9606:GSC2
gene id: 9606:GSC2
uniprot id: O15499
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the paired homeobox family. Bicoid subfamily.
messages: Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.
messages: Expressed in early human development as well as in a limited number of adult tissues.
messages: May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.
messages: Nucleus

9606:COX6A1
gene id: 9606:COX6A1
uniprot id: H6SG15
uniprot id: P12074
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cytochrome c oxidase subunit 6A family.
messages: Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695).
messages: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
messages: Membrane
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CYP20A1
gene id: 9606:CYP20A1
uniprot id: Q6UW02
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the cytochrome P450 family.
messages: Membrane

9606:PCYT2
gene id: 9606:PCYT2
uniprot id: B3KSC8
uniprot id: B7Z4W6
uniprot id: I3L1R7
uniprot id: Q99447
names: Disease Annotation
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the cytidylyltransferase family.
messages: Ethanolamine-phosphate cytidylyltransferase that catalyzes the second step in the synthesis of phosphatidylethanolamine (PE) from ethanolamine via the CDP-ethanolamine pathway (PubMed:9083101, PubMed:31637422). Phosphatidylethanolamine is a dominant inner-leaflet phospholipid in cell membranes, where it plays a role in membrane function by structurally stabilizing membrane-anchored proteins, and participates in important cellular processes such as cell division, cell fusion, blood coagulation, and apoptosis (PubMed:9083101).
messages: Strongest expression in liver, heart, and skeletal muscle.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:OR2T35
gene id: 9606:OR2T35
uniprot id: Q8NGX2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:CORO2A
gene id: 9606:CORO2A
uniprot id: A0A024R150
uniprot id: A8K9S3
uniprot id: Q92828
names: Similarity
names: Subunit
messages: Belongs to the WD repeat coronin family.
messages: Binds actin (By similarity). Component of the N-Cor repressor complex, at least composed of NCOR1, NCOR2, HDAC3, TBL1X, TBL1R, CORO2A and GPS2.

9606:GGTLC2
gene id: 9606:GGTLC2
uniprot id: A0A494C1J8
uniprot id: Q14390
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Tissue Specificity
messages: Belongs to the gamma-glutamyltransferase family.
messages: Contains an unspliced intron inserted in position 120.
messages: Corresponds to the light chain of other gamma-glutamyltransferase family members. Has no catalytic activity.
messages: Placenta and sigmoid tissues.

9606:NXPH3
gene id: 9606:NXPH3
uniprot id: O95157
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the neurexophilin family.
messages: Highest level in brain.
messages: May be proteolytically processed at the boundary between the N-terminal non-conserved and the central conserved domain in neuron-like cells.
messages: May be signaling molecules that resemble neuropeptides. Ligand for alpha-neurexins (By similarity).
messages: Secreted

9606:ZDHHC12
gene id: 9606:ZDHHC12
uniprot id: Q96GR4
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the DHHC palmitoyltransferase family.
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates. Has a palmitoyltransferase activity toward gephyrin/GPHN, regulating its clustering at synapses and its function in gamma-aminobutyric acid receptor clustering. Thereby, indirectly regulates GABAergic synaptic transmission.
messages: The DHHC domain is required for palmitoyltransferase activity.
messages: Widely expressed.

9606:TRMT12
gene id: 9606:TRMT12
uniprot id: Q53H54
names: Function
names: Sequence Caution
names: Similarity
messages: Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM5/TYW2 family.
messages: Contaminating sequence. Potential poly-A sequence starting in position 371.
messages: S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S-adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86.

9606:PLEKHM3
gene id: 9606:PLEKHM3
uniprot id: Q6ZWE6
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cell membrane
messages: Cytoplasm
messages: Golgi apparatus
messages: Interacts with AKT1.
messages: Involved in skeletal muscle differentiation. May act as a scaffold protein for AKT1 during muscle differentiation.

9606:UHMK1
gene id: 9606:UHMK1
uniprot id: Q8TAS1
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: Interacts with stathmin and CDKN1B/p27Kip1 (By similarity). Interacts with PAM.
messages: Nucleus
messages: Regulated in a cell-cycle dependent manner, with lowest levels during S phase and highest at G1 phase (at protein level).
messages: Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity).
messages: Widely expressed, with highest levels in skeletal muscle, kidney, placenta and peripheral blood leukocytes.

9606:DPEP3
gene id: 9606:DPEP3
uniprot id: A0A140VK16
uniprot id: Q9H4B8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the metallo-dependent hydrolases superfamily. Peptidase M19 family.
messages: Homodimer; disulfide-linked (PubMed:32325220). Interacts with TEX101; co-localized on the cell surface of spermatocytes, spermatids, and testicular spermatozoa, co-localized only in cytoplasmic droplets of caput and corpus epididymal sperm (By similarity).
messages: Lacks dipeptidase activity and is unable to hydrolyze cystinyl-bis-glycine, leukotriene D4 and the beta-lactam antibiotic imipenem (PubMed:32325220). The absence of activity may be due to the inability of asparagine (instead of aspartate found in DPEP1/2) at position 359 to function as the acid/base catalyst and activate the nucleophilic water/hydroxide (PubMed:32325220). A tyrosine (instead of histidine) at position 269 reduces affinity for the beta zinc and may cause substrate steric hindrance (PubMed:32325220).
messages: Membrane

9606:UNC5A
gene id: 9606:UNC5A
uniprot id: H0Y8R2
uniprot id: Q6ZN44
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the unc-5 family.
messages: By p53/TP53.
messages: Cell membrane
messages: Down-regulated in multiple cancers including colorectal, breast, ovary, uterus, stomach, lung, or kidney cancers.
messages: Homodimer and homooligomer. Interacts with the cytoplasmic part of DCC. Interacts with MAGED1. Interacts with PRKCABP, possibly mediating some interaction with PKC (By similarity). Interacts (via extracellular domain) with FLRT2 (via extracellular domain) (PubMed:25374360). Interacts (via extracellular domain) with FLRT3 (via extracellular domain) (By similarity).
messages: Intron retention.
messages: Membrane
messages: Membrane raft
messages: Phosphorylated on cytoplasmic tyrosine residues (By similarity). Phosphorylated by PKC in vitro (By similarity).
messages: Proteolytically cleaved by caspases during apoptosis. The cleavage does not take place when the receptor is associated with netrin ligand. Its cleavage by caspases is required to induce apoptosis.
messages: Receptor for netrin required for axon guidance. Functions in the netrin signaling pathway and promotes neurite outgrowth in response to NTN1. Mediates axon repulsion of neuronal growth cones in the developing nervous system in response to netrin. Axon repulsion in growth cones may be mediated by its association with DCC that may trigger signaling for repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand.
messages: Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding.
messages: The ZU5 domain mediates the interaction with MAGED1, which participates in the induction of apoptosis.
messages: neuron projection

9606:GULP1
gene id: 9606:GULP1
uniprot id: Q9UBP9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ced-6 family.
messages: Cytoplasm
messages: Homodimer. Interacts with clathrin. Interacts with GDP-bound ARF6, but not with GTP-bound ARF6. Part of a complex composed of GULP1, ACAP1 and ARF6. Interacts with ACAP1, LRP1, MEGF10 and STAB2.
messages: May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6.
messages: Widely expressed. Detected in macrophages, pancreas, kidney, skeletal muscle, heart, colon, intestine, lung, placenta and ovary.

9606:DEPDC7
gene id: 9606:DEPDC7
uniprot id: Q96QD5
names: Similarity
names: Tissue Specificity
messages: Belongs to the DEPDC7 family.
messages: Expressed in liver.

9606:ABHD6
gene id: 9606:ABHD6
uniprot id: Q9BV23
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the AB hydrolase superfamily.
messages: Late endosome membrane
messages: Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015).
messages: Lysosome membrane
messages: Mitochondrion membrane

9606:KY
gene id: 9606:KY
uniprot id: Q8NBH2
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the transglutaminase-like superfamily.
messages: Highly expressed in skeletal muscle.
messages: Interacts with IGFN1 and FLNC.
messages: Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Unlikely isoform. Aberrant splice sites.
messages: Z line
messages: cytoskeleton

9606:SRARP
gene id: 9606:SRARP
uniprot id: Q8NEQ6
names: Function
names: Induction
names: Subunit
names: Tissue Specificity
messages: Expressed in breast tumors with a higher expression level in estrogen receptor-positive cancers (PubMed:22341523, PubMed:28915724).
messages: Interacts with 14-3-3 proteins (PubMed:28915724).
messages: May regulate the transcriptional function of androgen and estrogen receptors.
messages: Up-regulated in breast cancers (PubMed:22341523).

9606:ACKR4
gene id: 9606:ACKR4
uniprot id: Q9NPB9
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Chemokine-binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalization. Plays an important role in controlling the migration of immune and cancer cells that express chemokine receptors CCR7 and CCR9, by reducing the availability of CCL19, CCL21, and CCL25 through internalization. Negatively regulates CXCR3-induced chemotaxis. Regulates T-cell development in the thymus.
messages: Belongs to the G-protein coupled receptor 1 family. Atypical chemokine receptor subfamily.
messages: Cell membrane
messages: Early endosome
messages: Forms heteromers with CXCR3. Interacts with ARRB1 and ARRB2.
messages: Predominantly expressed in heart. Lower expression in lung, pancreas, spleen, colon, skeletal muscle and small intestine.
messages: Recycling endosome
messages: The Ser/Thr residues in the C-terminal cytoplasmic tail may be phosphorylated.

9606:TADA2B
gene id: 9606:TADA2B
uniprot id: Q86TJ2
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Interacts with GCN5L2, SMARCA4, SMARCE1 and PAX5. Component of the TFTC-HAT complex.
messages: Nucleus

9606:RASSF7
gene id: 9606:RASSF7
uniprot id: Q02833
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with MAP2K7 and GTP-bound NRAS.
messages: Negatively regulates stress-induced JNK activation and apoptosis by promoting MAP2K7 phosphorylation and inhibiting its ability to activate JNK. Following prolonged stress, anti-apoptotic effect stops because of degradation of RASSF7 protein via the ubiquitin-proteasome pathway. Required for the activation of AURKB and chromosomal congression during mitosis where it stimulates microtubule polymerization.
messages: Polyubiquitinated and degraded by the proteasome upon prolonged stress stimuli.
messages: centrosome

9606:KIF25
gene id: 9606:KIF25
uniprot id: Q9UIL4
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
messages: Homotetramer.
messages: In contrast to the ortholog protein in primates, human KIF25 protein is shorter at the N-terminus. While the kinesin motor domain is intact, it is unknown whether the absence of the N-terminus affects the microtubule-dependent motor activity.
messages: Minus-end microtubule-dependent motor protein (By similarity). Acts as a negative regulator of centrosome separation required to prevent premature centrosome separation during interphase (PubMed:28263957). Required to maintain a centered nucleus to ensure that the spindle is stably oriented at the onset of mitosis (PubMed:28263957). May also act as a negative regulator of amino acid starvation-induced autophagy (PubMed:22354037).
messages: centrosome

9606:CDK7
gene id: 9606:CDK7
uniprot id: A0A0S2Z3F9
uniprot id: D6R9G1
uniprot id: P50613
names: Activity Regulation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates primarily with cyclin-H (CCNH) and MAT1 to form the CAK complex. CAK can further associate with the core-TFIIH to form the TFIIH basal transcription factor; this complex is sensitive to UV light. The CAK complex binds to p53/TP53 in response to DNA damage. Interacts with CDK2, SF1/NR5A1, PUF60 and PRKCI. Interacts with HINT1 (PubMed:10958787).
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
messages: Cytoplasm
messages: Inactivated by phosphorylation. Repressed by roscovitine (seliciclib, CYC202), R547 (Ro-4584820) and SNS-032 (BMS-387032). The association of p53/TP53 to the CAK complex in response to DNA damage reduces kinase activity toward CDK2 and RNA polymerase II repetitive C-terminal domain (CTD), thus stopping cell cycle progression. The inactivation by roscovitine promotes caspase-mediated apoptosis in leukemic cells.
messages: Nucleus
messages: Phosphorylation of Ser-164 during mitosis inactivates the enzyme. Phosphorylation of Thr-170 is required for activity. Phosphorylated at Ser-164 and Thr-170 by CDK2.
messages: Repressed by DNA-bound peptides.
messages: Serine/threonine kinase involved in cell cycle control and in RNA polymerase II-mediated RNA transcription. Cyclin-dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between 2 subsequent phases in the cell cycle. Required for both activation and complex formation of CDK1/cyclin-B during G2-M transition, and for activation of CDK2/cyclins during G1-S transition (but not complex formation). CDK7 is the catalytic subunit of the CDK-activating kinase (CAK) complex. Phosphorylates SPT5/SUPT5H, SF1/NR5A1, POLR2A, p53/TP53, CDK1, CDK2, CDK4, CDK6 and CDK11B/CDK11. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation, thus regulating cell cycle progression. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts (PubMed:9852112). Phosphorylation of POLR2A in complex with DNA promotes transcription initiation by triggering dissociation from DNA. Its expression and activity are constant throughout the cell cycle. Upon DNA damage, triggers p53/TP53 activation by phosphorylation, but is inactivated in turn by p53/TP53; this feedback loop may lead to an arrest of the cell cycle and of the transcription, helping in cell recovery, or to apoptosis. Required for DNA-bound peptides-mediated transcription and cellular growth inhibition.
messages: Ubiquitous.
messages: perinuclear region

9606:WBP2NL
gene id: 9606:WBP2NL
uniprot id: Q6ICG8
names: Function
names: Tissue Specificity
messages: Expressed in testis.
messages: May play a role in meiotic resumption and pronuclear formation, mediated by a WW domain-signaling pathway during fertilization.

9606:ORAI3
gene id: 9606:ORAI3
uniprot id: A0A024QZA7
uniprot id: Q9BRQ5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Orai family.
messages: Ca(2+) release-activated Ca(2+)-like (CRAC-like) channel subunit which mediates Ca(2+) influx and increase in Ca(2+)-selective current by synergy with the Ca(2+) sensor, STIM1.
messages: Cell membrane
messages: Expressed in both naive and effector T helper cells with higher levels in effector cells.
messages: Interacts with CRACR2A/EFCAB4B.
messages: Membrane

9606:MIGA2
gene id: 9606:MIGA2
uniprot id: B4DZP8
uniprot id: Q7L4E1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the mitoguardin family.
messages: Homodimer and heterodimer; forms heterodimers with MIGA1 (PubMed:26711011). Interacts with PLD6/MitoPLD (PubMed:26711011).
messages: Mitochondrion outer membrane
messages: Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD.

9606:BEST4
gene id: 9606:BEST4
uniprot id: Q8NFU0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the bestrophin family.
messages: Cell membrane
messages: Forms calcium-sensitive chloride channels. Permeable to bicarbonate.
messages: Predominantly found in colon and the weakly in fetal brain, spinal cord, retina, lung, trachea, testis and placenta.

9606:EIF3L
gene id: 9606:EIF3L
uniprot id: Q9Y262
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).
messages: Belongs to the eIF-3 subunit L family.
messages: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts with RRN3.
messages: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).
messages: Cytoplasm

9606:ZNF439
gene id: 9606:ZNF439
uniprot id: Q8NDP4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:JPT1
gene id: 9606:JPT1
uniprot id: Q9UK76
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the JUPITER family.
messages: Cytoplasm
messages: Expressed in testis, skeletal muscle, thymus, prostate, colon, peripheral blood cells, brain and placenta.
messages: Induced by EGF growth factor at mRNA and protein levels (PubMed:21323578). Induced by androgens (PubMed:22155408). Negatively regulated by the microRNA miR-132 (PubMed:25450365).
messages: Interacts with the complex composed, at least, of APC, CTNNB1 and GSK3B; the interaction takes place with the inactive form of GSK3B (phosphorylated at 'Ser-9').
messages: Modulates negatively AKT-mediated GSK3B signaling (PubMed:21323578, PubMed:22155408). Induces CTNNB1 'Ser-33' phosphorylation and degradation through the suppression of the inhibitory 'Ser-9' phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions (PubMed:25169422). Plays a role in the regulation of cell cycle and cell adhesion (PubMed:25169422, PubMed:25450365). Has an inhibitory role on AR-signaling pathway through the induction of receptor proteosomal degradation (PubMed:22155408).
messages: Nucleus

9606:RXFP4
gene id: 9606:RXFP4
uniprot id: Q8TDU9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in a broader range of tissues including brain, kidney, testis, thymus, placenta, prostate, salivary gland, thyroid and colon.
messages: High affinity receptor for INSL5. Also acts as receptor for RLN3/relaxin-3, as well as bradykinin and kallidin. Binding of the ligand inhibit cAMP accumulation.

9606:GABRA1
gene id: 9606:GABRA1
uniprot id: A8K177
uniprot id: P14867
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Allosterically activated by benzodiazepines and the anesthetic alphaxalone (PubMed:30266951, PubMed:29950725). Allosterically activated by pentobarbital (By similarity). Inhibited by the antagonist bicuculline (PubMed:29950725).
messages: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily.
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Glycosylated.
messages: Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:29950725, PubMed:30266951). Interacts with UBQLN1 (By similarity). Interacts with TRAK1 (By similarity). Interacts with KIF21B (By similarity). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity). Interacts with LHFPL4 (PubMed:28978485, PubMed:29742426). Interacts with NLGN2 (By similarity). Interacts with SHISA7; interaction leads regulation of GABA(A) receptor trafficking, channel deactivation kinetics and pharmacology (By similarity).
messages: Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). GABRA1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).
messages: Membrane
messages: Postsynaptic cell membrane
messages: Synaptic cell membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The extracellular domain contributes to synaptic contact formation.

9606:HLA-G
gene id: 9606:HLA-G
uniprot id: P17693
uniprot id: Q6DU14
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the MHC class I family.
messages: Cell membrane
messages: Detected in physiological fluids including amniotic fluid and serum.
messages: Early endosome
messages: Early endosome membrane
messages: Endoplasmic reticulum membrane
messages: Expressed at the morula stage (at protein level) (PubMed:29262349). Expressed in extravillous trophoblast and cytotrophoblast (PubMed:26460007, PubMed:16210391, PubMed:7589701). Expressed in fetal eye and thymus (PubMed:2336406).
messages: Expressed in adult eye (PubMed:1570318). Expressed in immune cell subsets including monocytes, myeloid and plasmacytoid dendritic cells and regulatory T cells (Tr1)(at protein level) (PubMed:20448110). Secreted by follicular dendritic cell and follicular helper T cells (PubMed:24453251).
messages: Expressed in fetal liver.
messages: Expressed in placenta, amniotic membrane, skin, cord blood and peripheral blood mononuclear cells.
messages: Forms a heterotrimer with B2M and a self-peptide (peptide-bound HLA-G-B2M) (PubMed:7584149, PubMed:8805247). HLA-G-B2M complex interacts with components of the antigen processing machinery TAPBP and TAP1-TAP2 complex; this interaction is required for loading of high affinity peptides and heterotrimer translocation to the cell surface (PubMed:7584149). Interacts with CALCR; this interaction is required for appropriate folding (PubMed:9640257). Interacts with COPB1; this interaction mediates the endoplasmic reticulum (ER) retrieval of HLA-G-B2M complexes that bind low affinity peptides (PubMed:11520457, PubMed:12582157). On the cell surface, peptide-bound HLA-G-B2M molecules (referred to as monomers) can form disulfide-linked homomultimers, homodimers and homotrimers (PubMed:12454284, PubMed:12874224, PubMed:16455647). Interacts with KIR2DL4; this interaction is direct (PubMed:10190900, PubMed:16366734). Interacts with LILRB1 and LILRB2 receptors; this interaction is direct (PubMed:16455647, PubMed:16366734, PubMed:17056715, PubMed:12853576). Interacts with CD160; this interactions is direct (PubMed:16809620). Interacts with CD8A homodimer; this interaction is direct and might down-regulate T cell receptor signaling (PubMed:12853576). Isoform 2: Forms a non-disulfide-linked homodimer and interacts with LILRB2 (PubMed:28348268).
messages: Likely does not bind B2M and presents peptides.
messages: Likely does not bind B2M and presents peptides. Negatively regulates NK cell- and CD8+ T cell-mediated cytotoxicity (PubMed:11290782).
messages: N-glycosylated.
messages: Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface (PubMed:23184984, PubMed:29262349, PubMed:19304799). In complex with B2M/beta-2 microglobulin binds a limited repertoire of nonamer self-peptides derived from intracellular proteins including histones and ribosomal proteins (PubMed:7584149, PubMed:8805247). Peptide-bound HLA-G-B2M complex acts as a ligand for inhibitory/activating KIR2DL4, LILRB1 and LILRB2 receptors on uterine immune cells to promote fetal development while maintaining maternal-fetal tolerance (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799, PubMed:20448110). Upon interaction with KIR2DL4 and LILRB1 receptors on decidual NK cells, it triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799). Through interaction with KIR2DL4 receptor on decidual macrophages induces pro-inflammatory cytokine production mainly associated with tissue remodeling (PubMed:19304799). Through interaction with LILRB2 receptor triggers differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110). Reprograms B cells toward an immune suppressive phenotype via LILRB1 (PubMed:24453251).
messages: Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface (PubMed:23184984, PubMed:29262349, PubMed:19304799). In complex with B2M/beta-2 microglobulin binds a limited repertoire of nonamer self-peptides derived from intracellular proteins including histones and ribosomal proteins (PubMed:7584149, PubMed:8805247). Peptide-bound HLA-G-B2M complex acts as a ligand for inhibitory/activating KIR2DL4, LILRB1 and LILRB2 receptors on uterine immune cells to promote fetal development while maintaining maternal-fetal tolerance (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799, PubMed:20448110, PubMed:27859042). Upon interaction with KIR2DL4 and LILRB1 receptors on decidual NK cells, it triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799). Through interaction with KIR2DL4 receptor on decidual macrophages induces pro-inflammatory cytokine production mainly associated with tissue remodeling (PubMed:19304799). Through interaction with LILRB2 receptor triggers differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110, PubMed:27859042). May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD8+ T cells and B cells (PubMed:10190900, PubMed:11290782, PubMed:24453251). Reprograms B cells toward an immune suppressive phenotype via LILRB1 (PubMed:24453251). May induce immune activation/suppression via intercellular membrane transfer (trogocytosis), likely enabling interaction with KIR2DL4, which resides mostly in endosomes (PubMed:20179272, PubMed:26460007). Through interaction with the inhibitory receptor CD160 on endothelial cells may control angiogenesi…
messages: Produced by proteolytic cleavage at the cell surface (shedding) by matrix metalloproteinase MMP2.
messages: Secreted
messages: Up-regulated by immunosuppressive cytokine IL10 on dendritic cells and CD4+ T cells (PubMed:20448110). Up-regulated by progesterone in cytotrophoblasts (PubMed:16210391).
messages: filopodium membrane

9606:TPBG
gene id: 9606:TPBG
uniprot id: Q13641
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Antigen 5T4 is overexpressed by a wide spectrum of cancers, including colorectal, ovarian and gastric, but with a limited normal tissue expression. Could be used for tumor immunotherapy.
messages: Cell membrane
messages: Expressed by all types of trophoblasts as early as 9 weeks of development. Specific for trophoblastic cells except for amniotic epithelium. In adult tissues, the expression is limited to a few epithelial cell types but is found on a variety of carcinoma.
messages: Highly glycosylated.
messages: May function as an inhibitor of Wnt/beta-catenin signaling by indirectly interacting with LRP6 and blocking Wnt3a-dependent LRP6 internalization.
messages: Reduction of TPBG levels by siRNA significantly enhanced the beta-catenin/TCF transcription-based reporter pBAR activation in response to Wnt stimulation.
messages: The C-terminus of LRR N-terminal cap (LRRNT) and LRR 1 are essential for the inhibition of the Wnt signaling pathway.

9606:NLRP2
gene id: 9606:NLRP2
uniprot id: A8K9G6
uniprot id: J3KN39
uniprot id: Q9NX02
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NLRP family.
messages: By interferons and bacterial lipopolysaccharides (LPS).
messages: Cytoplasm
messages: Erroneous prediction of the initiator methionine.
messages: Expressed at high levels in lung, placenta and thymus and at lower levels in ovary, intestine and brain (PubMed:15456791). Highly abundant in oocytes and early embryos, however poorly expressed in somatic tissues such as brain, kidney, liver and spinal cord (PubMed:30877238).
messages: Interacts with CHUK (PubMed:15456791). Interacts with IKBKB (PubMed:15456791). Interacts with IKBKG (PubMed:15456791). Interacts with MEFV (PubMed:17431422). Interacts with PYCARD (PubMed:15030775, PubMed:15456791). Interacts (via pyrin domain) with PYDC2 (PubMed:17178784). Interacts with CARD8 (PubMed:15030775).
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature pro-inflammatory cytokine IL1B. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and CASP1 and whose function would be the activation of pro-inflammatory caspases.
messages: The pyrin domain is necessary and sufficient for suppression of NFKB1 activation induced by TNF and for inducing IL1B secretion in collaboration with caspase-1. It is involved in interaction with PYCARD.
messages: When isolated, the NACHT domain is involved in interaction with CARD8. This interaction is not detected for the full-length protein, maybe due to autoinhibition, this inhibition might by relieved by an inducible change in protein folding.

9606:SMARCE1
gene id: 9606:SMARCE1
uniprot id: Q969G3
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B), and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:12672490, PubMed:22952240, PubMed:26601204). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (ACTB) (PubMed:22952240, PubMed:26601204). Interacts with BRDT (By similarity). Also binds to the SRC/p160 family of histone acetyltransferases (HATs) composed of NCO…
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells.
messages: Nucleus
messages: The HMG domain is essential for CD4 silencing and CD8 activation; mutation of this domain blocks thymus development.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction between TRIP12 and SMARCC1.

9606:BPY2
gene id: 9606:BPY2
uniprot id: O14599
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the VCX/VCY family.
messages: Expressed exclusively in testis. Expressed in ejaculated spermatozoa of germ cell. Expressed in the nuclei of spermatogonia, spermatocytes, and round spermatids, except elongated spermatids (at protein level).
messages: Interacts with MAP1S. Interacts with UBE3A (via HECT domain).

9606:LRPAP1
gene id: 9606:LRPAP1
uniprot id: P30533
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the alpha-2-MRAP family.
messages: Cell surface
messages: Endoplasmic reticulum-Golgi intermediate compartment lumen
messages: Endosome lumen
messages: Golgi apparatus lumen
messages: Interacts with the LRP1/alpha-2-macroglobulin receptor heavy and light chains; the interaction is transient and coincides with a reduction of ligand binding by the receptor (PubMed:1712782, PubMed:1400426, PubMed:7774585, PubMed:16938309, PubMed:16678114, PubMed:32296178). Interacts with LRP2/glycoprotein 330 (PubMed:1400426). Interacts with LRP1B; binding is followed by internalization and degradation (PubMed:11384978). Interacts with LDLR (PubMed:16630895). Interacts with SORL1 (PubMed:8940146, PubMed:11294867, PubMed:12530537, PubMed:15053742, PubMed:15364913, PubMed:26858303). Interacts with LRP1; this interaction is followed by rapid internalization (PubMed:15053742).
messages: Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway.
messages: N-glycosylated.
messages: Rough endoplasmic reticulum lumen
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cis-Golgi network

9606:COL18A1
gene id: 9606:COL18A1
uniprot id: P39060
names: Biotechnology
names: Caution
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Available under the name Endostar (Jiangsu Simcere Pharmaceutical) for the treatment of non-small-cell lung cancer.
messages: Belongs to the multiplexin collagen family.
messages: Circulating endostatins are found as sialoglycoprotein and asialoglycoprotein structures.
messages: Forms homotrimers (PubMed:11257123). Recombinant non-collagenous domain 1 has stronger affinity to NID1, HSPG2 and laminin-1:NID1 complex and lower affinity to FBLN1 and FBLN2 than endostatin (By similarity).
messages: May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.
messages: Monomeric (PubMed:11257123). Interacts with KDR/VEGFR2. Interacts with the ITGA5:ITGB1 complex. Interacts with NID1, HSPG2, laminin-1:NID1 complex, FBLN1 and FBLN2 (By similarity).
messages: Non-collagenous domain 1 seems to be the predominant tissue form from which endostatin is cleaved. However, the proteolytic cleavage site to generate non-collagenous domain 1 is not known. Soluble recombinant non-collagenous domain 1 amenable to biochemical studies has been used instead.
messages: Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123).
messages: Present in multiple organs with highest levels in liver, lung and kidney.
messages: Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform 1.
messages: Prolines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are hydroxylated.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: There is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1675 individuals.
messages: Undergoes proteolytic processing by CTSL/cathepsin-L and elastase-like proteases to generate both non-collagenous domain 1 trimers and endostatin monomers (PubMed:10626789). In tissue extracts (brain, skeletal muscle, heart, kidney, testis and liver) predominantly bands of approximately 38 kDa are detected; recombinant non-collagenous domain 1 shows similar mobility. In vitro, several proteolytic cleavage sites in the non-collagenous domain 1 hinge region generating different endostatin-like peptides are reported (By similarity).
messages: basement membrane
messages: extracellular matrix

9606:RFX5
gene id: 9606:RFX5
uniprot id: P48382
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters.
messages: Belongs to the RFX family.
messages: Homodimer. The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group. Interacts (via PxLPxI/L motif) with RFXANK (via ankyrin repeats); the interaction is direct. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with CIITA to form an active transcriptional complex.
messages: Nucleus
messages: Phosphorylated.
messages: The N-terminus is required for dimer formation, association with RFXANK and RFXAP, assembly of the RFX complex, and for binding of this complex to its X box target site in the MHC-II promoter. The C-terminus mediates cooperative binding between the RFX complex and NF-Y.
messages: The PxLPxI/L motif mediates interaction with ankyrin repeats of RFXANK.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:RNASEH2B
gene id: 9606:RNASEH2B
uniprot id: A0A2R8Y883
uniprot id: Q5TBB1
uniprot id: Q8N451
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RNase H2 subunit B family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.
messages: Nucleus
messages: The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.

9606:AGK
gene id: 9606:AGK
uniprot id: A4D1U5
uniprot id: Q53H12
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: According to a report, the N-terminal hydrophobic region forms a transmembrane region that crosses the mitochondrion inner membrane (PubMed:28712726). According to another report, the N-terminal hydrophobic region associates with the membrane without crossing it (PubMed:28712724).
messages: Belongs to the AGK family.
messages: Component of the TIM22 complex, which core is composed of TIMM22, associated with TIMM10 (TIMM10A and/or TIMM10B), TIMM9, AGK and TIMM29 (PubMed:28712724, PubMed:28712726).
messages: Highly expressed in muscle, heart, kidney and brain.
messages: Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force (PubMed:28712724, PubMed:28712726). In the TIM22 complex, required for the import of a subset of metabolite carriers into mitochondria, such as ANT1/SLC25A4 and SLC25A24, while it is not required for the import of TIMM23 (PubMed:28712724). Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth (PubMed:15939762).
messages: Membrane
messages: Mitochondrion inner membrane
messages: Mitochondrion intermembrane space
messages: Overexpressed in prostate cancer, suggesting that it may play a role in initiation and progression of prostate cancer, processes in which lysophosphatidic acid (LPA) plays key roles.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. The TIM22 complex and import of proteins into mitochondrion are affected in patients suffering of MTDPS10 (PubMed:28712726).

9606:ART4
gene id: 9606:ART4
uniprot id: Q93070
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the Arg-specific ADP-ribosyltransferase family.
messages: Cell membrane
messages: DO is responsible for the Dombrock blood group system [MIM:616060]. The molecular basis of the Do(a)/Do(b) blood group antigen is a single variation in position 265; Asn-265 corresponds to Do(a) and Asp-265 to Do(b). It is also responsible for the antigens Gregory [Gy(a)], Holley [Hy] and Joseph [Jo(a)].
messages: Expressed in spleen and T-cells.

9606:TMEM167A
gene id: 9606:TMEM167A
uniprot id: Q8TBQ9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the KISH family.
messages: Golgi apparatus membrane
messages: Involved in the early part of the secretory pathway.

9606:COL17A1
gene id: 9606:COL17A1
uniprot id: Q9UMD9
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Both the 120 kDa linear IgA disease antigen and the 97 kDa linear IgA disease antigen of COL17A1, represent major antigenic targets of autoantibodies in patients with linear IgA disease (LAD). LAD is a subepidermal blistering disorder characterized by tissue-bound and circulating IgA autoantibodies to the dermal-epidermal junction. These IgA autoantibodies preferentially react with 97 and the 120 kDa forms, but not with the full-length COL17A1, suggesting that the cleavage of the ectodomain generates novel autoantigenic epitopes.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves.
messages: Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic region) with DSP.
messages: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
messages: Membrane
messages: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
messages: The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosphorylation at Ser-544.
messages: The intracellular/endo domain is disulfide-linked.
messages: basement membrane
messages: hemidesmosome

9606:EPHX4
gene id: 9606:EPHX4
uniprot id: Q8IUS5
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the AB hydrolase superfamily. Epoxide hydrolase family.
messages: Membrane

9606:PLEKHF2
gene id: 9606:PLEKHF2
uniprot id: Q9H8W4
names: Domain
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Early endosome membrane
messages: Endoplasmic reticulum
messages: Expressed in placenta, ovary and small intestine, as well as in heart and pancreas. Also expressed in peripheral blood mononuclear cells and dendritic cells.
messages: May interact with EEA1.
messages: May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis (PubMed:18288467).
messages: The PH and FYVE domains may be important for TNF-induced localization to the endoplasmic reticulum and for enhanced cellular sensitivity to TNF-induced apoptosis (PubMed:18288467). The FYVE domain is important for binding to the endosomal membrane.
messages: Up-regulated by TNF, bacterial lipopolysaccharides (LPS) and phorbol myristate acetate (PMA) (at protein level).

9606:LSM2
gene id: 9606:LSM2
uniprot id: Q9Y333
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the snRNP Sm proteins family.
messages: Component of the precatalytic spliceosome (spliceosome B complex) (PubMed:11991638, PubMed:28781166). Component of the U4/U6-U5 tri-snRNP complex, a building block of the precatalytic spliceosome (spliceosome B complex) (PubMed:10523320, PubMed:28781166, PubMed:26912367). The U4/U6-U5 tri-snRNP complex is composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 (PubMed:26912367). LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 form a heptameric, ring-shaped subcomplex (the LSM2-8 complex) that is part of the U4/U6-U5 tri-snRNP complex and the precatalytic spliceosome (PubMed:10523320, PubMed:26912367, PubMed:28781166).
messages: Nucleus
messages: Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320).

9606:COX6B1
gene id: 9606:COX6B1
uniprot id: P14854
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cytochrome c oxidase subunit 6B family.
messages: Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695).
messages: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:UACA
gene id: 9606:UACA
uniprot id: Q9BZF9
names: Function
names: Induction
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the apoptosome complex, composed of APAF1, pro-caspase-9 and UACA. In the complex, it probably interacts directly with APAF1. Interacts with LGALS3, ARF6 and ACTB. Interacts with RAB39A (By similarity).
messages: Cytoplasm
messages: Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells.
messages: Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury. May be involved in multiple neurite formation (By similarity).
messages: Nucleus
messages: Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity).
messages: UACA is a possible target autoantigen in Vogt-Koyanagi-Harada (VKH), Behcet disease (BD) and sarcoidosis that cause different types of panuevitis.
messages: Up-regulated after TSH stimulation.
messages: cytoskeleton

9606:SLC7A11
gene id: 9606:SLC7A11
uniprot id: Q9UPY5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.
messages: Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
messages: Membrane
messages: Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate.

9606:SSC5D
gene id: 9606:SSC5D
uniprot id: A1L4H1
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds to extracellular matrix proteins. Binds to pathogen-associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces (By similarity).
messages: Cytoplasm
messages: Highly expressed in monocytes/macrophages and T-lymphocytes. Highly expressed in placenta and spleen, and also detected at lower levels in colon, and more weakly in lung, heart and kidney.
messages: Interacts with LGALS1 and laminin.
messages: Secreted

9606:VPS72
gene id: 9606:VPS72
uniprot id: Q15906
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the VPS72/YL1 family.
messages: Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41 and VPS72/YL1. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Also part of a multiprotein complex which contains SRCAP and which binds to H2AZ1/H2AZ. Interacts (via N-terminal domain) with heterodimer H2BC11 and H2AZ1 (PubMed:26974126). The interaction with H2AZ1 is enhanced by VPS72 phosphorylation which is promoted by ZNHIT1 (By similarity).
messages: Deposition-and-exchange histone chaperone specific for H2AZ1, specifically chaperones H2AZ1 and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AZ1/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling.
messages: Nucleus
messages: Phosphorylation is enhanced by ZNHIT1 and promotes the interaction of VPS72 with histone H2AZ1.

9606:HYKK
gene id: 9606:HYKK
uniprot id: A2RU49
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the aminoglycoside phosphotransferase family.
messages: Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.
messages: Cytoplasm

9606:MED17
gene id: 9606:MED17
uniprot id: Q9NVC6
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Mediator complex subunit 17 family.
messages: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
messages: Interacts with GATA1 and PPARG (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with STAT2.
messages: May be due to intron retention.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:FBXW5
gene id: 9606:FBXW5
uniprot id: Q969U6
names: Developmental Stage
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the FBXW5 family.
messages: Cytoplasm
messages: Degraded by the APC/C complex during G1 phase and reaccumulates at the G1/S phase transition.
messages: Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXW5) composed of CUL1, SKP1, RBX1 and FBXW5. Component of the DCX(FBXW5) E3 ubiquitin ligase complex, at least composed of (CUL4A or CUL4B), DDB1, FBXW5 and RBX1. Interacts with CDC20, EPS8, TSC1, TSC2 and SASS6. Interacts with TNFAIP8L1; TNFAIP8L1 competes with TSC2 to bind FBXW5 increasing TSC2 stability by preventing its ubiquitination.
messages: Phosphorylated at Ser-151 by PLK4 during the G1/S transition, leading to inhibit its ability to ubiquitinate SASS6.
messages: Substrate recognition component of both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication. The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes required to allow mitotic progression. Substrate-specific adapter of the DCX(FBXW5) E3 ubiquitin-protein ligase complex which mediates the polyubiquitination and subsequent degradation of TSC2. May also act as a negative regulator of MAP3K7/TAK1 signaling in the interleukin-1B (IL1B) signaling pathway.
messages: The D-box (destruction box) mediate the interaction with APC proteins, and acts as a recognition signal for degradation via the ubiquitin-proteasome pathway.
messages: The F-box domain mediates interaction with components of SCF (SKP1-CUL1-F-box protein) complexes, while WD repeats mediate interaction with components of DCX (DDB1-CUL4-X-box) complexes.
messages: Ubiquitinated and degraded by the APC/C complex during mitosis and G1 phase.

9606:TCOF1
gene id: 9606:TCOF1
uniprot id: Q13428
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Contaminating sequence. Potential poly-A sequence.
messages: Heterodimer; heterodimerizes with NOLC1 following monoubiquitination (PubMed:26399832). Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with NOP56 in an RNA-independent manner (PubMed:12777385).
messages: Major.
messages: Minor.
messages: Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).
messages: Pyrophosphorylated by 5-diphosphoinositol pentakisphosphate (5-IP7). Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated. Monoubiquitination by the BCR(KBTBD8) complex promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).
messages: nucleolus

9606:MYOZ3
gene id: 9606:MYOZ3
uniprot id: Q8TDC0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the myozenin family.
messages: Expressed specifically in skeletal muscle. Not detected in heart.
messages: Interacts with ACTN2, LDB3, FLNC, PPP3CA and TCAP.
messages: Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.
messages: Z line

9606:ZNF408
gene id: 9606:ZNF408
uniprot id: B4DXY4
uniprot id: Q9H9D4
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Highest expression is observed in adult retina; abundantly expressed in the fetal eye (PubMed:23716654). In the retina, it is detected in the outer nuclear layer, especially cone and rod photoreceptor cells, ganglion cell layer and both outer and inner plexiform layers (at protein level) (PubMed:25882705). Expressed in retinal blood vessels (at protein level) (PubMed:25882705).
messages: May be involved in transcriptional regulation.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PAX3
gene id: 9606:PAX3
uniprot id: P23760
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.
messages: Belongs to the paired homeobox family.
messages: Can bind to DNA as a homodimer or a heterodimer with PAX7. Interacts with PAXBP1; the interaction links PAX3 to a WDR5-containing histone methyltransferase complex. Interacts with DAXX. Interacts with TBX18. Interacts with SOX10 (PubMed:21965087).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator.
messages: Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).

9606:SMAD5
gene id: 9606:SMAD5
uniprot id: Q68DB7
uniprot id: Q99717
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the dwarfin/SMAD family.
messages: Cytoplasm
messages: May form trimers with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit and SMURF1. Interacts with SUV39H1 and SUV39H2. Interacts (via MH2 domain) with LEMD3. Interacts with WWP1. Interacts with TMEM119 (By similarity). Interacts with ZNF8 (PubMed:12370310). Interacts with RANBP3L (PubMed:25755279).
messages: Nucleus
messages: Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
messages: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD).
messages: Ubiquitin-mediated proteolysis by SMAD-specific E3 ubiquitin ligase SMURF1.
messages: Ubiquitous.

9606:PLA2G2A
gene id: 9606:PLA2G2A
uniprot id: A0A024RA96
uniprot id: P14555
names: Cofactor
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the phospholipase A2 family.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Cell membrane
messages: Expressed in various tissues including heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, prostate, ovary, colon and small intestine. Not detected in lymphoid organs and brain (PubMed:10455175, PubMed:10681567). Expressed in platelets (at protein level) (PubMed:25082876).
messages: Group II phospholipase A2 is found in many cells and also extracellularly. The membrane-bound and secreted forms are identical and are encoded by a single gene.
messages: Interaction with integrin ITGA4:ITGB3 is inhibited by a number of synthetic peptides including R-Ala-Trp-Asp-Ile and R-Gly-Arg-Gly-Asp-Asp-Asp which bind to PLA2G2A and disrupt its integrin-binding activity.
messages: Mitochondrion outer membrane
messages: Secreted
messages: Secretory calcium-dependent phospholipase A2 that primarily targets extracellular phospholipids with implications in host antimicrobial defense, inflammatory response and tissue regeneration (PubMed:10455175, PubMed:10681567, PubMed:2925633). Hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity) with preference for phosphatidylethanolamines and phosphatidylglycerols over phosphatidylcholines (PubMed:10455175, PubMed:10681567). Contributes to lipid remodeling of cellular membranes and generation of lipid mediators involved in pathogen clearance. Displays bactericidal activity against Gram-positive bacteria by directly hydrolyzing phospholipids of the bacterial membrane (PubMed:11694541, PubMed:10358193). Upon sterile inflammation, targets membrane phospholipids of extracellular mitochondria released from activated platelets, generating free unsaturated fatty acids such as arachidonate that is used by neighboring leukocytes to synthesize inflammatory eicosanoids such as leukotrienes. Simultaneously, by compromising mitochondrial membrane integrity, promotes the release in circulation of potent damage-associated molecular pattern molecules that activate the innate immune response (PubMed:25082876). Plays a stem cell regulator role in the intestinal crypt. Within intracellular compartment mediates Paneth cell differentiation and its stem cell supporting functions by inhibiting Wnt signaling pathway in intestinal stem cell (ICS). Secreted in the intestinal lumen upon inflammation, acts in an autocrine way and promotes prostaglandin E2 synthesis that stimulates Wnt signaling pathway in ICS cells and tissue regeneration (By similarity). May play a role in the biosynthesis of N-acyl ethanolamines that regulate energy metabolism and inflammation. Hydrolyzes N-acyl phosphatidylethanolamines to N-acyl lysophosphatidylethanolamines, which are further cleaved by a lysophospholipase D to release N-acyl ethanolamin…

9606:C16orf89
gene id: 9606:C16orf89
uniprot id: Q6UX73
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant splicing.
messages: Belongs to the UPF0764 family.
messages: Glycosylated.
messages: Homodimer.
messages: Major isoform, represents 80% of transcripts.
messages: Predominantly expressed in thyroid tissue.
messages: Secreted

9606:DYRK3
gene id: 9606:DYRK3
uniprot id: O43781
names: Activity Regulation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily.
messages: By EPO/erythropoietin.
messages: Cytoplasm
messages: Cytoplasmic granule
messages: Dual-specificity protein kinase that promotes disassembly of several types of membraneless organelles during mitosis, such as stress granules, nuclear speckles and pericentriolar material (PubMed:29973724). Dual-specificity tyrosine-regulated kinases (DYRKs) autophosphorylate a critical tyrosine residue in their activation loop and phosphorylate their substrate on serine and threonine residues (PubMed:9748265, PubMed:29634919). Acts as a central dissolvase of membraneless organelles during the G2-to-M transition, after the nuclear-envelope breakdown: acts by mediating phosphorylation of multiple serine and threonine residues in unstructured domains of proteins, such as SRRM1 and PCM1 (PubMed:29973724). Does not mediate disassembly of all membraneless organelles: disassembly of P-body and nucleolus is not regulated by DYRK3 (PubMed:29973724). Dissolution of membraneless organelles at the onset of mitosis is also required to release mitotic regulators, such as ZNF207, from liquid-unmixed organelles where they are sequestered and keep them dissolved during mitosis (PubMed:29973724). Regulates mTORC1 by mediating the dissolution of stress granules: during stressful conditions, DYRK3 partitions from the cytosol to the stress granule, together with mTORC1 components, which prevents mTORC1 signaling (PubMed:23415227). When stress signals are gone, the kinase activity of DYRK3 is required for the dissolution of stress granule and mTORC1 relocation to the cytosol: acts by mediating the phosphorylation of the mTORC1 inhibitor AKT1S1, allowing full reactivation of mTORC1 signaling (PubMed:23415227). Also acts as a negative regulator of EPO-dependent erythropoiesis: may place an upper limit on red cell production during stress erythropoiesis (PubMed:10779429). Inhibits cell death due to cytokine withdrawal in hematopoietic progenitor cells (PubMed:10779429). Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1: this in turn inhibits p53/TP53 activity an…
messages: Interacts with SIRT1.
messages: Isoform 1: Highly expressed in testis and in hematopoietic tissue such as fetal liver, and bone marrow (PubMed:10779429). Isoform 1: Predominant form in fetal liver and bone marrow (PubMed:10779429). Isoform 1: Present at low levels in heart, pancreas, lymph node and thymus (PubMed:10779429). Isoform 2: Highly expressed in testis and in hematopoietic tissue such as fetal liver, and bone marrow (PubMed:10779429). Isoform 2: Predominant form in testis. Isoform 2: Present at low levels in heart, pancreas, lymph node and thymus (PubMed:10779429).
messages: Nucleus
messages: Nucleus speckle
messages: Protein kinase activity is activated following autophosphorylation at Tyr-369 (Probable). Autophosphorylation at Ser-350 stabilizes the protein and enhances the protein kinase activity (PubMed:9748265).
messages: Protein kinase activity is activated following autophosphorylation at Tyr-369 (PubMed:9748265). Inhibited by harmine, an ATP competitive inhibitor (PubMed:29634919). Inhibited by small-compound GSK-626616 (PubMed:29973724).
messages: The N-terminal domain, which is intrinsically disordered, is required for stress granule localization.
messages: Ubiquitinated at anaphase by the anaphase-promoting complex (APC/C), leading to its degradation by the proteasome.
messages: centrosome

9606:ARHGAP5
gene id: 9606:ARHGAP5
uniprot id: Q13017
names: Domain
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Detected in skin fibroblasts (at protein level) (PubMed:8537347).
messages: GTPase-activating protein for Rho family members (PubMed:8537347).
messages: May interact with RASA1/p120GAP.
messages: The pG1 pseudoGTPase domain does not bind GTP.

9606:MAP10
gene id: 9606:MAP10
uniprot id: Q9P2G4
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in different cell lines (at protein level).
messages: Interacts (via middle region) with microtubules.
messages: Microtubule-associated protein (MAP) that plays a role in the regulation of cell division; promotes microtubule stability and participates in the organization of the spindle midzone and normal progress of cytokinesis.
messages: Midbody
messages: centrosome
messages: cytoskeleton
messages: spindle pole

9606:HAPLN4
gene id: 9606:HAPLN4
uniprot id: Q86UW8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the HAPLN family.
messages: Essential for the proper localization of brevican (BCAN), mainly as a perineuronal nets (PNNs)-type deposition in the brainstem and cerebellum thereby playing a key role in the formation and structural organization of PNNs (By similarity). Contributes to the formation and transmission of inhibitory GABAergic synapses between Purkinje cells and deep cerebellar nuclei neurons (By similarity).
messages: Expressed predominantly in brain.
messages: extracellular matrix

9606:CEP192
gene id: 9606:CEP192
uniprot id: Q8TEP8
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Hydroxylation by PHD1/EGLN2 at Pro-2313 promotes ubiquitination.
messages: Interacts with SHBG (PubMed:15862967). Interacts with PLK4; this interaction mediates the formation of a ternary complex composed by PLK4, TENT5C and CEP192 (PubMed:32433990).
messages: Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:25042804, PubMed:17980596, PubMed:18207742). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:25042804, PubMed:17980596, PubMed:18207742). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804).
messages: Ubiquitinated by a SCF(SKP2) complex following proline hydroxylation.
messages: centriole

9606:ODF1
gene id: 9606:ODF1
uniprot id: Q14990
names: Domain
names: Function
names: Subunit
names: Tissue Specificity
messages: Component of the outer dense fibers (ODF) of spermatozoa. ODF are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail.
messages: Interacts (via leucine zipper motif) with TCP11 isoform 2 and isoform 3 (PubMed:21597245). Interacts with SPAG4 (By similarity). Interacts with KLC3 (By similarity).
messages: Testis.
messages: The C-terminal contains many C-X-P repeats.

9606:AP5S1
gene id: 9606:AP5S1
uniprot id: Q9NUS5
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair.
messages: Late endosome membrane
messages: Lysosome membrane
messages: Probably part of the adaptor protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11.
messages: cytosol

9606:GCNT2
gene id: 9606:GCNT2
uniprot id: Q8N0V5
names: Developmental Stage
names: Disease Annotation
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 14 family.
messages: Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells.
messages: Determines the expression of the blood group I antigen in erythrocytes.
messages: Expressed in lens epithelium cells.
messages: Expressed in reticulocytes.
messages: Expression increases dramatically during development and oncogenesis.
messages: GCNT2 is involved in determining the blood group I system (Ii) [MIM:110800]. The i (fetal) and I (adult) antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. A replacement during development of i by I is dependent on the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. The expression of the blood group I antigen in erythrocytes is determined by isoform C of GCNT2.
messages: Golgi apparatus membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MOS
gene id: 9606:MOS
uniprot id: P00540
names: Similarity
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
messages: Expressed specifically in testis during spermatogenesis.

9606:ADGB
gene id: 9606:ADGB
uniprot id: Q8N7X0
names: Caution
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peptidase C2 family.
messages: Interacts with septin SEPT10.
messages: Intron retention.
messages: Lacks the conserved active site residues. Probably catalytically inactive.
messages: Required for sperm flagellum formation and maturation of elongating spermatids, thus playing an essential role in male fertility. Contributes to in vitro proteolytic cleavage of SEPT10 in a calmodulin-dependent manner.
messages: flagellum

9606:OR8H1
gene id: 9606:OR8H1
uniprot id: A0A126GVW6
uniprot id: Q8NGG4
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:LYPD5
gene id: 9606:LYPD5
uniprot id: Q6UWN5
names: Subcellular Location Annotation
messages: Cell membrane

9606:CCDC103
gene id: 9606:CCDC103
uniprot id: Q8IW40
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CCDC103/PR46b family.
messages: Cytoplasm
messages: Dynein-attachment factor required for cilia motility.
messages: Homodimer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: flagellum

9606:CRISPLD1
gene id: 9606:CRISPLD1
uniprot id: Q9H336
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CRISP family.
messages: Secreted

9606:PEAK1
gene id: 9606:PEAK1
uniprot id: Q9H792
names: Caution
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the protein kinase superfamily.
messages: Has been the subject of controversy surrounding its catalytic capabilities. Early characterization of PEAK1 gave a weak in vitro tyrosine kinase activity (PubMed:20534451). The crystal structure indicates that the kinase-domain contains a closed nucleotide-binding cleft that in this conformation may deleteriously affect nucleotide binding (PubMed:29212708). Furthermore PEAK1 is devoid of nucleotide binding activity, as detected by a thermal-shift assay (PubMed:24107129). So it seems probable that PEAK1 is an inactive kinase.
messages: Homodimer (PubMed:29212708). Interacts with BCAR1 and CRK (PubMed:20534451). Interacts with PRAG1 (PubMed:29079850). Interacts (when phosphorylated at Tyr-1188) with SHC1 (via PID domain) (PubMed:23846654). Found in a complex with PPP1CA, PPP1CC, SHC1 and PEAK1.
messages: Phosphorylated on tyrosine in a CSK-dependent manner in response to adhesion to fibronectin and to EGF stimulation (PubMed:20534451). Phosphorylation at Tyr-665 by a Src family kinase controls subcellular localization to focal adhesion and focal adhesion dynamics (PubMed:20534451). Phosphorylation at Tyr-1188 is essential for binding to SHC1 (PubMed:23846654).
messages: Probable catalytically inactive kinase. Scaffolding protein that regulates the cytoskeleton to control cell spreading and migration by modulating focal adhesion dynamics (PubMed:23105102, PubMed:20534451). Acts as a scaffold for mediating EGFR signaling (PubMed:23846654).
messages: The dimerization region encompasses helices both from the N- and C-terminal of the protein kinase domain.
messages: cytoskeleton
messages: focal adhesion

9606:PGR
gene id: 9606:PGR
uniprot id: P06401
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the nuclear hormone receptor family. NR3 subfamily.
messages: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
messages: Cytoplasm
messages: In reproductive tissues the expression of isoform A and isoform B varies as a consequence of developmental and hormonal status. Isoform A and isoform B are expressed in comparable levels in uterine glandular epithelium during the proliferative phase of the menstrual cycle. Expression of isoform B but not of isoform A persists in the glands during mid-secretory phase. In the stroma, isoform A is the predominant form throughout the cycle. Heterogeneous isoform expression between the glands of the endometrium basalis and functionalis is implying region-specific responses to hormonal stimuli.
messages: Increases mitochondrial membrane potential and cellular respiration upon stimulation by progesterone.
messages: Interacts with SMARD1 and UNC45A. Interacts with CUEDC2; the interaction promotes ubiquitination, decreases sumoylation, and represses transcriptional activity. Interacts with PIAS3; the interaction promotes sumoylation of PR in a hormone-dependent manner, inhibits DNA-binding, and alters nuclear export. Interacts with SP1; the interaction requires ligand-induced phosphorylation on Ser-345 by ERK1/2 MAPK. Interacts with PRMT2. Isoform A interacts with NCOR2. Isoform B (but not isoform A) interacts with NCOA2 and NCOA1. Isoform B (but not isoform A) interacts with KLF9. Interacts with GTF2B (PubMed:1517211).
messages: Ligand-dependent transdominant repressor of steroid hormone receptor transcriptional activity including repression of its isoform B, MR and ER. Transrepressional activity may involve recruitment of corepressor NCOR2.
messages: Mitochondrion outer membrane
messages: Nucleus
messages: Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation.
messages: Phosphorylated on multiple serine sites. Several of these sites are hormone-dependent. Phosphorylation on Ser-294 occurs preferentially on isoform B, is highly hormone-dependent and modulates ubiquitination and sumoylation on Lys-388. Phosphorylation on Ser-102 and Ser-345 also requires induction by hormone. Basal phosphorylation on Ser-81, Ser-162, Ser-190 and Ser-400 is increased in response to progesterone and can be phosphorylated in vitro by the CDK2-A1 complex. Increased levels of phosphorylation on Ser-400 also in the presence of EGF, heregulin, IGF, PMA and FBS. Phosphorylation at this site by CDK2 is ligand-independent, and increases nuclear translocation and transcriptional activity. Phosphorylation at Ser-162 and Ser-294, but not at Ser-190, is impaired during the G(2)/M phase of the cell cycle. Phosphorylation on Ser-345 by ERK1/2 MAPK is required for interaction with SP1.
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform B.
messages: Sumoylation is hormone-dependent and represses transcriptional activity. Sumoylation on all three sites is enhanced by PIAS3. Desumoylated by SENP1. Sumoylation on Lys-388, the main site of sumoylation, is repressed by ubiquitination on the same site, and modulated by phosphorylation at Ser-294.
messages: The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Depending on the isoform, progesterone receptor functions as transcriptional activator or repressor.
messages: Transcriptional activator of several progesteron-dependent promoters in a variety of cell types. Involved in activation of SRC-dependent MAPK signaling on hormone stimulation.
messages: Ubiquitination is hormone-dependent and represses sumoylation on the same site. Promoted by MAPK-mediated phosphorylation on Ser-294.

9606:CD8A
gene id: 9606:CD8A
uniprot id: P01732
uniprot id: Q6ZVS2
uniprot id: Q8TAW8
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: CD8 on thymus-derived T-cells usually consists of a disulfide-linked alpha/CD8A and a beta/CD8B chain. Less frequently, CD8 can be expressed as a CD8A homodimer. A subset of natural killer cells, memory T-cells, intraepithelial lymphocytes, monocytes and dendritic cells expresses CD8A homodimers. Expressed at the cell surface of plasmacytoid dendritic cells upon herpes simplex virus-1 stimulation.
messages: Cell membrane
messages: Forms disulfide-linked heterodimers with CD8B at the cell surface. Forms also homodimers in several cell types including NK-cells or peripheral blood T-lymphocytes. Interacts with the MHC class I HLA-A/B2M dimer. One HLA-A molecule (mainly via nonpolymorphic alpha-3 domain) interacts with one CD8A homodimer (via CDR-like loop) (PubMed:2784196, PubMed:9177355). Interacts with LCK in a zinc-dependent manner. Interacts with HLA-G; this interaction is direct and might down-regulate T cell receptor signaling.
messages: Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of cytotoxic T-lymphocytes (CTLs). This mechanism enables CTLs to recognize and eliminate infected cells and tumor cells. In NK-cells, the presence of CD8A homodimers at the cell surface provides a survival mechanism allowing conjugation and lysis of multiple target cells. CD8A homodimer molecules also promote the survival and differentiation of activated lymphocytes into memory CD8 T-cells.
messages: Membrane
messages: O-glycosylated.
messages: Palmitoylated, but association with CD8B seems to be more important for the enrichment of CD8A in lipid rafts.
messages: Phosphorylated in cytotoxic T-lymphocytes (CTLs) following activation.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZNF185
gene id: 9606:ZNF185
uniprot id: O15231
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in placenta, pancreas and kidney. Also expressed in prostate, testis, ovary and blood.
messages: May be involved in the regulation of cellular proliferation and/or differentiation.
messages: cytoskeleton
messages: focal adhesion

9606:ANAPC7
gene id: 9606:ANAPC7
uniprot id: Q9UJX3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the APC7 family.
messages: Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:18485873). APC7 is not required for the assembly of the APC/C complex, but has an enzyme-substrate adapter activity mediating the processive ubiquitination of specific substrates (PubMed:34942119). Involved in brain development through the specific ubiquitination and clearance of MKI67 from constitutive heterochromatin after neuronal progenitors exit mitosis (PubMed:34942119).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: V-shaped homodimer. The mammalian APC/C is composed at least of 14 distinct subunits ANAPC1, ANAPC2, CDC27/APC3, ANAPC4, ANAPC5, CDC16/APC6, ANAPC7, CDC23/APC8, ANAPC10, ANAPC11, CDC26/APC12, ANAPC13, ANAPC15 and ANAPC16 that assemble into a complex of at least 19 chains with a combined molecular mass of around 1.2 MDa; APC/C interacts with FZR1 and FBXO5 (PubMed:25043029, PubMed:26083744).
messages: cytoskeleton
messages: spindle

9606:SLC16A12
gene id: 9606:SLC16A12
uniprot id: Q6ZSM3
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
messages: Cell membrane
messages: Creatine uptake is inhibited by carbonyl cyanide 3-chlorophenylhydrazone (CCCP) and by valinomycin.
messages: Functions as a transporter for creatine and as well for its precursor guanidinoacetate. Transport of creatine and GAA is independent of resting membrane potential and extracellular Na(+), Cl(-), or pH. Contributes to the process of creatine biosynthesis and distribution.
messages: Interacts with isoform 2 of BSG; this interaction is required for its localization to the plasma membrane.
messages: It is uncertain whether Met-1 or Met-31 is the initiator.
messages: Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CABLES1
gene id: 9606:CABLES1
uniprot id: Q8TDN4
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cyclin family.
messages: Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity).
messages: Cytoplasm
messages: Expressed in breast, pancreas, colon, head and neck (at protein level). Strongly decreased in more than half of cases of atypical endometrial hyperplasia and in more than 90% of endometrial cancers.
messages: Expression in the endometrial epithelium fluctuates during the menstrual cycle, being greater during the secretory phase when compared with the proliferative phase.
messages: Found in a complex with p53/TP53. Found in a number of complexes with CDK2, CDK3, CDK5, ABL1, TDRD7, CDK17, CCNA1, CCNE1 and TP73. Interacts with CDK2, CDK3, CDK5, ABL1 and TDRD7 (By similarity).
messages: Nucleus
messages: Phosphorylated on Ser-313 by CCNE1/CDK3. Phosphorylated on serine/threonine residues by CDK5 and on tyrosine residues by ABL1. Also phosphorylated in vitro by CCNA1/CDK2, CCNE1/CDK2, CCNA1/CDK3 and CCNE1/CDK3 (By similarity).
messages: Up-regulated by progesterone and down-regulated by estrogen in benign endometrium.

9606:RSF1
gene id: 9606:RSF1
uniprot id: Q96T23
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the RSF-1 ISWI chromatin-remodeling complex at least composed of SMARCA1 and RSF1 (PubMed:28801535). Within the RSF-1 ISWI chromatin-remodeling complex interacts with SMARCA1 (PubMed:28801535). Component of the RSF-5 ISWI chromatin-remodeling complex (also called the RSF complex) at least composed of SMARCA5/SNF2H and RSF1 (PubMed:12972596, PubMed:28801535). Within the RSF-5 ISWI chromatin-remodeling complex interacts with SMARCA5/SNF2H; the interaction is direct (PubMed:12972596, PubMed:28801535). Identified in a centromere complex containing histones H2A, H2B and H4, and at least CENPA, CENPB, CENPC, CENPT, CENPN, HJURP, SUPT16H, SSRP1 and RSF1 (PubMed:27499292). Also binds the HBV pX/HBx protein, which is required to activate transcription of the viral genome (PubMed:11944984, PubMed:11788598).
messages: Contaminating sequence. Potential poly-A sequence.
messages: Nucleus
messages: Phosphorylated.
messages: Regulatory subunit of the ATP-dependent RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:12972596, PubMed:28801535). Binds to core histones together with SMARCA5, and is required for the assembly of regular nucleosome arrays by the RSF-5 ISWI chromatin-remodeling complex (PubMed:12972596). Directly stimulates the ATPase activity of SMARCA1 and SMARCA5 in the RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, respectively (PubMed:28801535). The RSF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the RSF-5 ISWI chromatin-remodeling complex (PubMed:28801535). The complexes do not have the ability to slide mononucleosomes to the center of a DNA template (PubMed:28801535). Facilitates transcription of hepatitis B virus (HBV) genes by the pX transcription activator. In case of infection by HBV, together with pX, it represses TNF-alpha induced NF-kappa-B transcription activation. Represses transcription when artificially recruited to chromatin by fusion to a heterogeneous DNA binding domain (PubMed:11944984, PubMed:11788598).
messages: Ubiquitously expressed. Highly expressed in the heart, skeletal muscle, kidney and placenta (PubMed:12972596). Expressed at low levels in the brain and colon (PubMed:12972596).

9606:API5
gene id: 9606:API5
uniprot id: B4DDR3
uniprot id: Q9BZZ5
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylation at Lys-251 impairs antiapoptotic function.
messages: Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs.
messages: Belongs to the API5 family.
messages: Cytoplasm
messages: Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Highest levels in heart, pancreas and placenta. Highly expressed in several cancers. Preferentially expressed in squamous cell carcinoma versus adenocarcinoma in non-small cell lung cancer.
messages: Monomer. Interacts with FGF2 and ACIN1.
messages: Nucleus
messages: Two regions, an N-terminal (aa 96-107) and a C-terminal (aa 274-311) are required for binding FGF2.

9606:ZNF230
gene id: 9606:ZNF230
uniprot id: Q9UIE0
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:SORBS2
gene id: 9606:SORBS2
uniprot id: A0A8Q3WKF2
uniprot id: B7Z3D7
uniprot id: B7Z997
uniprot id: O94875
names: Caution
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundantly expressed in heart. In cardiac muscle cells, located in the Z-disks of sarcomere. Also found, but to a lower extent, in small and large intestine, pancreas, thymus, colon, spleen, prostate, testis, brain, ovary and epithelial cells. In the pancreas, mainly expressed in acinar cells, duct cells and all cell types in islets (at protein level). Tends to be down-regulated in pancreatic adenocarcinomas ans metastases.
messages: Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12 (PubMed:18559503). Isoform 6 increases water and sodium absorption in the intestine and gall-bladder.
messages: Apical cell membrane
messages: Dephosphorylated by PTPN12.
messages: Interacts with ABL, CBL, DNM1, DNM2, FLOT1, AFDN, PTK2B/PYK2, SAPAP, SPTAN1, SYNJ1, SYNJ2, VCL/vinculin and WASF (By similarity). Interacts with ABL1/c-Abl, ABL2/v-Abl/Arg, ACTN, CBL and PALLD. Interacts with PTPN12 and WASF1 via its SH3 domains; this interaction may mediate the partial PTPN12 and WASF1 translocation to focal adhesion sites.
messages: The first 2 SH3 domains are required for WASF1-binding. All 3 SH3 domains can bind independently to PTPN12.
messages: Ubiquitinated by CBL.
messages: Was shown to interact with AKT1 and PAK1 (PubMed:15784622). This work has later been retracted due to concerns of image manipulation.
messages: focal adhesion
messages: lamellipodium
messages: perinuclear region

9606:OMA1
gene id: 9606:OMA1
uniprot id: Q96E52
names: Activity Regulation
names: Caution
names: Cofactor
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autocatalytically cleaved in response to mitochondrial depolarization both at the N-terminus and C-terminus to generate the short active form (S-OMA1) (By similarity). Autocatalytic processing at the C-terminus takes place at residues 447-456 (By similarity). The S-OMA1 form is unstable (By similarity). Degradaded by YMEL1 in response to membrane depolarization (PubMed:26923599). Protein turnover is regulated by prohibitin (PHB and PHB2), which promotes degradation of OMA1 in a cardiolipin-binding manner (By similarity).
messages: Belongs to the peptidase M48 family.
messages: Binds 1 zinc ion per subunit.
messages: Homooligomer.
messages: May form a redox-dependent disulfide bond (By similarity). Exists in a semi-oxidized state and is activated by prolonged hypoxia (PubMed:31044600).
messages: Metalloprotease that is part of the quality control system in the inner membrane of mitochondria (PubMed:20038677, PubMed:25605331, PubMed:32132706, PubMed:32132707). Activated in response to various mitochondrial stress, leading to the proteolytic cleavage of target proteins, such as OPA1, UQCC3 and DELE1 (PubMed:20038677, PubMed:25275009, PubMed:32132706, PubMed:32132707). Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion (PubMed:20038677, PubMed:25275009). Also acts as a regulator of apoptosis: upon BAK and BAX aggregation, mediates cleavage of OPA1, leading to the remodeling of mitochondrial cristae and allowing the release of cytochrome c from mitochondrial cristae (PubMed:25275009). In depolarized mitochondria, may also act as a backup protease for PINK1 by mediating PINK1 cleavage and promoting its subsequent degradation by the proteasome (PubMed:30733118). May also cleave UQCC3 in response to mitochondrial depolarization (PubMed:25605331). Also acts as an activator of the integrated stress response (ISR): in response to mitochondrial stress, mediates cleavage of DELE1 to generate the processed form of DELE1 (S-DELE1), which translocates to the cytosol and activates EIF2AK1/HRI to trigger the ISR (PubMed:32132706, PubMed:32132707). Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions (By similarity). Binds cardiolipin, possibly regulating its protein turnover (By similarity). Required for the stability of the respiratory supercomplexes (By similarity).
messages: Mitochondrion inner membrane
messages: Protease activity is activated upon autocatalytic cleavage in response to mitochondrial depolarization.
messages: The stress-sensor region regulates proteolysis and activation.
messages: Was initially reported to localize in the endoplasmic reticulum (PubMed:12886954). However, it was later shown that it localizes to mitochondrion (PubMed:20038677).
messages: Widely expressed, with strong expression in the heart, skeletal muscle, kidney and liver.

9606:RSBN1L
gene id: 9606:RSBN1L
uniprot id: Q6PCB5
names: Cofactor
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the round spermatid basic protein 1 family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Lysine-specific demethylase that specifically demethylates methylated lysine residues of proteins.
messages: Nucleus

9606:GSR
gene id: 9606:GSR
uniprot id: P00390
uniprot id: V9HW90
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
messages: Binds 1 FAD per subunit.
messages: Cytoplasm
messages: Each subunit can be divided into 4 domains that are consecutive along the polypeptide chain. Domains 1 and 2 bind FAD and NADPH, respectively. Domain 4 forms the interface.
messages: Expressed at very high levels in peripheral blood.
messages: Homodimer; disulfide-linked.
messages: Maintains high levels of reduced glutathione in the cytosol.
messages: Mitochondrion
messages: Produced by alternative initiation of isoform Mitochondrial.
messages: The active site is a redox-active disulfide bond.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ATOH8
gene id: 9606:ATOH8
uniprot id: Q96SQ7
names: Caution
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Contains a degenerate basic motif not likely to bind DNA.
messages: Cytoplasm
messages: Efficient DNA binding requires dimerization with another bHLH protein. Interacts with NEUROG3 and NEUROD1. Interacts with ZFPM2; mediates indirect interaction with GATA4. Forms a heterodimer with TCF3; repress transcription of TCF3 and TCF3/NEUROG3 dimer-induced transactivation of E box-dependent promoters.
messages: Expressed in lung, liver, kidney, heart and pancreas. Expressed in endothel of umbilical vessels.
messages: Nucleus
messages: Nucleus speckle
messages: The bHLH domain mediates transcriptional repression by inhibiting TCF3 transcriptional activity through heterodimerization.
messages: Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5'-CANNTG- 3' known as an E-box element, possibly as a heterodimer with other bHLH proteins (PubMed:24236640). Regulates endothelial cell proliferation, migration and tube-like structures formation (PubMed:24463812). Modulates endothelial cell differentiation through NOS3 (PubMed:24463812). May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic development is involved in tissue-specific differentiation processes that are dependent on class II bHLH factors and namely modulates the differentiation program initiated by the pro-endocrine factor NEUROG3 (By similarity). During myogenesis, may play a role during the transition of myoblasts from the proliferative phase to the differentiation phase (By similarity). Positively regulates HAMP transcription in two ways, firstly by acting directly on the HAMP promoter via E-boxes binding and indirectly through increased phosphorylation of SMAD protein complex (PubMed:24236640). Repress NEUROG3-dependent gene activation in a gene-specific manner through at least two mechanisms; requires only either the sequestering of a general partner such as TCF3 through heterodimerization, either also requires binding of the bHLH domain to DNA via a basic motif (By similarity).

9606:LCMT1
gene id: 9606:LCMT1
uniprot id: Q9UIC8
names: Function
names: Similarity
messages: Belongs to the methyltransferase superfamily. LCMT family.
messages: Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues.

9606:FRMD7
gene id: 9606:FRMD7
uniprot id: Q6ZUT3
names: Developmental Stage
names: Disease Annotation
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.
messages: In 37 day post-ovulation (dpo) embryos, expression is found in the mid- and hindbrain, regions known to be involved in motor control of eye movement, and in the ventricular zone of the forebrain. In 56 dpo embryos, expressed in the ventricular layer of the forebrain, midbrain, cerebellar primordium, spinal cord and the developing neural retina. In later development, highly expressed in postmitotic cells within the developing subplate and cortical plate.
messages: May play a role during neuronal differentiation and development. Shares a similar tissue distribution, co-localize with, and interact with isoform 1 in NT2 cells.
messages: Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: growth cone
messages: neuron projection

9606:KRT75
gene id: 9606:KRT75
uniprot id: O95678
names: Disease Annotation
names: Function
names: Miscellaneous
names: Polymorphism
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the intermediate filament family.
messages: Heterodimer of a type I and a type II keratin. May associate with KRT17.
messages: Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of the follicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at protein level).
messages: May be used as a marker of hair differentiation.
messages: Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.
messages: The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

9606:CLIC6
gene id: 9606:CLIC6
uniprot id: Q96NY7
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the chloride channel CLIC family.
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in brain, placenta, pancreas and liver.
messages: Interacts with dopamine receptors DRD2, DRD3 and DRD4.
messages: May insert into membranes and form chloride ion channels. May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport (By similarity).
messages: Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity).
messages: Phosphorylated.

9606:ACAA1
gene id: 9606:ACAA1
uniprot id: A0A024R2M6
uniprot id: A0A140VJX0
uniprot id: P09110
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the thiolase-like superfamily. Thiolase family.
messages: Homodimer (Ref.16). Interacts (via PTS2-type peroxisomal targeting signal region) with PEX7; leading to its translocation into peroxisomes (PubMed:22057399, PubMed:25538232).
messages: Peroxisomal thiolase is markedly induced (at the level of transcription) by various hypolipidemic compounds in parallel with the other two enzymes of the peroxisomal beta-oxidation system.
messages: Peroxisome
messages: Responsible for the thiolytic cleavage of straight chain 3-keto fatty acyl-CoAs (3-oxoacyl-CoAs) (PubMed:2882519, PubMed:11734571). Plays an important role in fatty acid peroxisomal beta-oxidation (PubMed:2882519, PubMed:11734571). Catalyzes the cleavage of short, medium, long, and very long straight chain 3-oxoacyl-CoAs (PubMed:2882519, PubMed:11734571).
messages: The PTS2-type peroxisomal targeting signal, which mediates interaction with PEX7 and localization to peroxisomes, is cleaved following import into peroxisomes.

9606:MSH2
gene id: 9606:MSH2
uniprot id: A0A2R8Y6P0
uniprot id: P43246
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DNA mismatch repair MutS family.
messages: Chromosome
messages: Component of the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). Heterodimer consisting of MSH2-MSH6 (MutS alpha) or MSH2-MSH3 (MutS beta) (PubMed:8942985). Both heterodimers form a ternary complex with MutL alpha (MLH1-PMS1) (PubMed:9788596, PubMed:10856833, PubMed:11427529, PubMed:11429708, PubMed:12414623, PubMed:14676842). Interacts with MCM9; the interaction recruits MCM9 to chromatin (PubMed:26300262). Interacts with MCM8 (PubMed:26300262). Interacts with EXO1 (PubMed:9788596, PubMed:10856833, PubMed:11427529, PubMed:11429708, PubMed:12414623, PubMed:14676842). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex (PubMed:10783165). This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains (PubMed:10783165). Interacts with ATR (PubMed:14657349). Interacts with SLX4/BTBD12; this interaction is direct and links MutS beta to SLX4, a subunit of different structure-specific endonucleases (PubMed:19596235). Interacts with SMARCAD1 (PubMed:18675275).
messages: Component of the post-replicative DNA mismatch repair system (MMR).
messages: Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containing DNA strand (PubMed:26300262). ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Disease susceptibility may be associated with variants affecting the gene represented in this entry.
messages: Nucleus
messages: Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed.

9606:KLHL42
gene id: 9606:KLHL42
uniprot id: Q9P2K6
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
messages: Component of the BCR(KLHL42) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL42. Interacts (via the BTB domain) with CUL3. Interacts (via the kelch domains) with KATNA1.
messages: Cytoplasm
messages: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis.
messages: Up-regulated during mitosis.
messages: spindle

9606:GPC5
gene id: 9606:GPC5
uniprot id: P78333
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glypican family.
messages: Cell membrane
messages: Cell surface proteoglycan that bears heparan sulfate.
messages: In adult, primarily expressed in the brain. Also detected in fetal brain, lung and liver.
messages: extracellular space

9606:STRA6
gene id: 9606:STRA6
uniprot id: B3KPB8
uniprot id: Q9BX79
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris.
messages: Cell membrane
messages: Contrary to predictions, contains nine transmembrane helices, with an extracellular N-terminus and a cytoplasmic C-terminus (By similarity). Besides, contains one long helix that dips into the membrane and then runs more or less parallel to the membrane surface (By similarity).
messages: Functions as retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1 (PubMed:9452451, PubMed:18316031, PubMed:22665496). Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A (PubMed:18316031, PubMed:22665496). Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and its target STAT5, and ultimately increase the expression of SOCS3 and inhibit cellular responses to insulin (PubMed:21368206, PubMed:22665496). Important for the homeostasis of vitamin A and its derivatives, such as retinoic acid (PubMed:18316031). STRA6-mediated transport is particularly important in the eye, and under conditions of dietary vitamin A deficiency (Probable). Does not transport retinoic acid (PubMed:18316031).
messages: Homodimer (By similarity). Interacts with JAK2 and STAT5 (PubMed:21368206). Interacts (via extracellular domains) with RBP4 (PubMed:22665496). Interacts (via cytoplasmic domains) with RBP1 (PubMed:22665496).
messages: Membrane
messages: Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe.
messages: Phosphorylated on tyrosine residues in response to RBP4 binding (PubMed:21368206, PubMed:22665496). Phosphorylation requires the presence of LRAT, suggesting it may be triggered by the uptake of retinol that is then metabolized within the cell to retinoids that function as signaling molecules (PubMed:22665496).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated in the colorectal cancer cell line WiDr by the administration of retinoic acid and in tumors with frequent defects in Wnt-1 signaling.

9606:ARNTL2
gene id: 9606:ARNTL2
uniprot id: Q8WYA1
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the circadian core oscillator, which includes the CRY proteins, CLOCK, or NPAS2, BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins. Interacts directly with CLOCK to form the BMAL2-CLOCK transactivator. Can form heterodimers or homodimers which interact directly with CLOCK to form the transcription activator. Interacts with NPAS2 and HIF1A. Interacts with PER2 (By similarity).
messages: Constitutively expressed. Has no circadian rhythm expression pattern.
messages: Expressed in fetal brain. Highly expressed in brain and placenta. Lower levels in heart, liver, thymus, kidney and lung. Located to endothelial cells and neuronal cells of the suprachiasmatic nucleus (SCN). Also detected in endothelial cells of the heart, lung and kidney. In the brain, specifically expressed in the thalamus, hippocampus and amygdala.
messages: Nucleus
messages: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a …

9606:OR52B2
gene id: 9606:OR52B2
uniprot id: Q96RD2
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:ALOXE3
gene id: 9606:ALOXE3
uniprot id: Q9BYJ1
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the lipoxygenase family.
messages: Binds 1 Fe cation per subunit.
messages: Cytoplasm
messages: Lipoxygenase activity is activated by 13(S)-HPODE leading to an active free ferric enzyme (PubMed:20921226). The lipoxygenase and hydroperoxide isomerase activities are in competition and are reciprocally regulated by oxygen (PubMed:20923767). The oxygen reacts with an epoxyallylic radical intermediate leading to an epoxyallylic peroxyl radical, which, due to its limited reactivity within the enzyme active site, it dissociates and leaves the enzyme in the activated free ferric state (PubMed:20923767).
messages: Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity (PubMed:12881489, PubMed:17045234, PubMed:20921226, PubMed:20923767). The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols and ketones (PubMed:12881489, PubMed:17045234, PubMed:20923767). In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides (PubMed:20921226). In the skin, acts downstream of ALOX12B on the linoleate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins (PubMed:21558561). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:21558561). In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites (PubMed:21558561). Also plays a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG (By similarity). Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia (By similarity).
messages: Predominantly expressed in skin.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:RGS2
gene id: 9606:RGS2
uniprot id: A0A024R939
uniprot id: P41220
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in acute myelogenous leukemia (AML) and in acute lymphoblastic leukemia (ALL).
messages: Interacts with GNAQ (PubMed:18434541, PubMed:19478087, PubMed:28784619). Does not interact with GNAI1 and GNAI3 (PubMed:18434541, PubMed:19478087). Interacts with EIF2B5 (PubMed:19736320). Interacts with PRKG1 (isoform alpha) (PubMed:14608379).
messages: Lacks type V adenylyl cyclase (AC) inhibitory function.
messages: Membrane
messages: Mitochondrion
messages: Phosphorylated by protein kinase C. Phosphorylation by PRKG1 leads to activation of RGS2 activity.
messages: Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11063746, PubMed:19478087). It is involved in the negative regulation of the angiotensin-activated signaling pathway (PubMed:28784619). Plays a role in the regulation of blood pressure in response to signaling via G protein-coupled receptors and GNAQ. Plays a role in regulating the constriction and relaxation of vascular smooth muscle (By similarity). Binds EIF2B5 and blocks its activity, thereby inhibiting the translation of mRNA into protein (PubMed:19736320).
messages: nucleolus

9606:TSPYL5
gene id: 9606:TSPYL5
uniprot id: Q86VY4
names: Function
names: Similarity
names: Subunit
messages: Belongs to the nucleosome assembly protein (NAP) family.
messages: Interacts with USP7.
messages: Involved in modulation of cell growth and cellular response to gamma radiation probably via regulation of the Akt signaling pathway. Involved in regulation of p53/TP53. Suppresses p53/TP53 protein levels and promotes its ubiquitination; the function is dependent on USP7 and independent on MDM2. Proposed to displace p53/TP53 from interaction with USP7.

9606:ERI1
gene id: 9606:ERI1
uniprot id: A0A024R355
uniprot id: Q8IV48
names: Activity Regulation
names: Cofactor
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Although it can bind simultaneously with SLBP to the 3'-end of histone mRNA, the presence of SLBP prevents the exonuclease activity.
messages: Binds 2 magnesium ions per subunit.
messages: Cytoplasm
messages: Identified in a histone pre-mRNA complex, at least composed of ERI1, LSM11, SLBP, SNRPB, SYNCRIP and YBX1. Interacts in a cooperative manner with SLBP to the mature 3'-end of histone mRNAs (By similarity). Binds to 40S and 60S ribosomal subunits and to 80S assembled ribosomes. Found in a ternary complex with SLBP and the stem-loop structure of the 3'-end of histone mRNAs.
messages: Nucleus
messages: RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication. A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient degradation of RNA substrates. Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi). Requires for binding the 5'-ACCCA-3' sequence present in stem-loop structure. Able to bind other mRNAs. Required for 5.8S rRNA 3'-end processing. Also binds to 5.8s ribosomal RNA. Binds with high affinity to the stem-loop structure of replication-dependent histone pre-mRNAs.
messages: The SAP domain is necessary for binding to the stem-loop structure of histone mRNAs and to form the ternary complex with SLBP, but not for 3'-end histone mRNA exonuclease activity.
messages: nucleolus

9606:NEK11
gene id: 9606:NEK11
uniprot id: Q8NG66
names: Activity Regulation
names: Developmental Stage
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autorepressed by intramolecular binding of the C-terminus which dissociates following phosphorylation by NEK2 isoform 1 in G1/S-arrested cells. NEK2 isoform 2 is largely not present in the nucleolus, and does not appear to phosphorylate NEK11. Activated in response to DNA damage. Inhibited by zinc.
messages: Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
messages: Interacts with isoform 1 of NEK2.
messages: Nucleus
messages: Phosphorylated by NEK2. Phosphorylation at Ser-273 is important for its activation.
messages: Poorly expressed in cerebellum, trachea, lung, appendix, and uterus.
messages: Predominantly expressed at S/G2/M phase.
messages: Protein kinase which plays an important role in the G2/M checkpoint response to DNA damage. Controls degradation of CDC25A by directly phosphorylating it on residues whose phosphorylation is required for BTRC-mediated polyubiquitination and degradation.
messages: nucleolus

9606:DDAH2
gene id: 9606:DDAH2
uniprot id: O95865
uniprot id: V9HW53
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the DDAH family.
messages: Cytoplasm
messages: Detected in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas, and at very low levels in brain.
messages: Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation.
messages: Mitochondrion

9606:C18orf32
gene id: 9606:C18orf32
uniprot id: Q8TCD1
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the UPF0729 family.
messages: Endoplasmic reticulum
messages: Interacts with DERL1 and AMFR.
messages: Lipid droplet
messages: May activate the NF-kappa-B signaling pathway.
messages: Undergoes ER-associated degradation (ERAD).

9606:PLXDC1
gene id: 9606:PLXDC1
uniprot id: Q8IUK5
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the plexin family.
messages: Cell membrane
messages: Cytoplasm
messages: Detected in endothelial cells from colorectal cancer, and in endothelial cells from primary cancers of the lung, liver, pancreas, breast and brain. Not detectable in endothelial cells from normal tissue. Expressed in fibrovascular membrane with increased expression in individuals with proliferative diabetic retinopathy.
messages: Interacts with NID1. May interact with CTTN.
messages: N-glycosylated.
messages: Plays a critical role in endothelial cell capillary morphogenesis.
messages: Secreted
messages: tight junction

9606:NOX4
gene id: 9606:NOX4
uniprot id: B3KQ17
uniprot id: B7Z523
uniprot id: B7Z529
uniprot id: Q9NPH5
names: Activity Regulation
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By 7-ketocholesterol (at protein level).
messages: Cell membrane
messages: Constitutive NADPH oxidase which generates superoxide intracellularly upon formation of a complex with CYBA/p22phox. Regulates signaling cascades probably through phosphatases inhibition. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signaling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB. May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation. Isoform 3 is not functional. Isoform 5 and isoform 6 display reduced activity.
messages: Endoplasmic reticulum membrane
messages: Expressed by distal tubular cells in kidney cortex and in endothelial cells (at protein level). Widely expressed. Strongly expressed in kidney and to a lower extent in heart, adipocytes, hepatoma, endothelial cells, skeletal muscle, brain, several brain tumor cell lines and airway epithelial cells.
messages: Expressed in fetal kidney and fetal liver.
messages: Inhibited by plumbagin (By similarity). Activated by phorbol 12-myristate 13-acetate (PMA). Activated by insulin. Inhibited by diphenylene iodonium.
messages: Interacts with protein disulfide isomerase (By similarity). Interacts with, relocalizes and stabilizes CYBA/p22phox. Interacts with TLR4. Interacts with PPP1R15A (PubMed:26742780).
messages: Involved in redox signaling in vascular cells. Constitutively and NADPH-dependently generates reactive oxygen species (ROS). Modulates the nuclear activation of ERK1/2 and the ELK1 transcription factor, and is capable of inducing nuclear DNA damage. Displays an increased activity relative to isoform 1.
messages: Isoform 3 and isoform 4 are N-glycosylated. Isoform 4 glycosylation is required for its proper function.
messages: Membrane
messages: Nucleus
messages: focal adhesion
messages: nucleolus

9606:LIN7A
gene id: 9606:LIN7A
uniprot id: O14910
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the lin-7 family.
messages: Cell junction
messages: Cell membrane
messages: Expressed in brain, testis, kidney, placenta and liver.
messages: Forms a complex with CASK and CASKIN1 (By similarity). Component of the brain-specific heterotrimeric complex (LIN-10-LIN-2-LIN-7 complex) composed of at least APBA1, CASK, and LIN7, which associates with the motor protein KIF17 to transport vesicles along microtubules (By similarity). Can also interact with other modular proteins containing protein-protein interaction domains like PALS1, PALS2, MPP7, DLG1, DLG2 and DLG3 through its L27 domain. Interacts with DLG4, GRIN2B and MARCHF11 as well as CDH1 and CTNNB1, the channels KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain. The association of LIN7A with cadherin and beta-catenin is calcium-dependent, occurs at synaptic junctions and requires the actin cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains. Associates with KIF17 via APBA1. Interacts with HTR4 (By similarity). Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C).
messages: Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity). This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells.
messages: Postsynaptic density membrane
messages: The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and the association of LIN7 to membranes.
messages: The PDZ domain regulates endocytosis and recycling of the receptor at the membrane.
messages: The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane.
messages: tight junction

9606:UBE2E3
gene id: 9606:UBE2E3
uniprot id: Q969T4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest.
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: Cytoplasm
messages: Nucleus
messages: The ubiquitin-loaded form interacts specifically with importin-11 (IPO11), leading to its import into the nucleus. Interacts with NEDD4L.
messages: Ubiquitously expressed at low levels. Highly expressed in skeletal muscle.

9606:ACBD7
gene id: 9606:ACBD7
uniprot id: Q8N6N7
names: Function
names: Similarity
messages: Belongs to the ACBD7 family.
messages: Binds medium- and long-chain acyl-CoA esters.

9606:FAM181B
gene id: 9606:FAM181B
uniprot id: A6NEQ2
names: Similarity
messages: Belongs to the FAM181 family.

9606:PYROXD2
gene id: 9606:PYROXD2
uniprot id: Q8N2H3
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the carotenoid/retinoid oxidoreductase family.
messages: Interacts with COX5B; this interaction may contribute to localize PYROXD2 to the inner face of the inner mitochondrial membrane.
messages: Mitochondrion matrix
messages: Probable oxidoreductase that may play a role as regulator of mitochondrial function.

9606:SUSD4
gene id: 9606:SUSD4
uniprot id: A0A140VK55
uniprot id: A0A7P0Z457
uniprot id: B3KTY0
uniprot id: B7Z469
uniprot id: Q5VX71
names: Caution
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acts as complement inhibitor by disrupting the formation of the classical C3 convertase. Isoform 3 inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways.
messages: Isoform 3 is the predominant isoform in all tissues except cortex, cerebellum, kidney, and breast. Isoform 1 is found primarily in the esophagus and the brain.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Secreted

9606:HSPA12B
gene id: 9606:HSPA12B
uniprot id: Q96MM6
names: Similarity
names: Tissue Specificity
messages: Belongs to the heat shock protein 70 family.
messages: Highest expression in muscle and heart. Lower levels in liver and kidney.

9606:LIMS4
gene id: 9606:LIMS4
uniprot id: P0CW19
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasm
messages: Detected in testis.

9606:NME6
gene id: 9606:NME6
uniprot id: A0A0C4DG91
uniprot id: A0A2R8Y7V2
uniprot id: C9JQB1
uniprot id: O75414
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the NDK family.
messages: Expressed at a moderately low level in many tissues. Most abundant in kidney, prostate, ovary, intestine, and spleen.
messages: Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Inhibitor of p53-induced apoptosis.

9606:FAM50B
gene id: 9606:FAM50B
uniprot id: Q9Y247
names: Induction
names: Similarity
names: Tissue Specificity
messages: Belongs to the FAM50 family.
messages: Imprinted. Promoter methylation of the maternal allele may restrict expression to the paternal allele in placenta.
messages: Widely expressed. Mostly abundant in testis and adult and fetal brain.

9606:FOXJ3
gene id: 9606:FOXJ3
uniprot id: Q9UPW0
names: Function
names: Subcellular Location Annotation
messages: Nucleus
messages: Transcriptional activator of MEF2C involved in the regulation of adult muscle fiber type identity and skeletal muscle regeneration (By similarity). Plays an important role in spermatogenesis (By similarity). Required for the survival of spermatogonia and participates in spermatocyte meiosis (By similarity).

9606:HCAR3
gene id: 9606:HCAR3
uniprot id: P49019
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expression largely restricted to adipose tissue and spleen.
messages: Receptor for 3-OH-octanoid acid mediates a negative feedback regulation of adipocyte lipolysis to counteract prolipolytic influences under conditions of physiological or pathological increases in beta-oxidation rates. Acts as a low affinity receptor for nicotinic acid. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet.

9606:LSG1
gene id: 9606:LSG1
uniprot id: Q9H089
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the TRAFAC class YlqF/YawG GTPase family. LSG1 subfamily.
messages: Cajal body
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Endoplasmic reticulum
messages: GTPase required for the XPO1/CRM1-mediated nuclear export of the 60S ribosomal subunit. Probably acts by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm (Probable).
messages: In contrast to other GTP-binding proteins, this family is characterized by a circular permutation of the GTPase motifs described by a G4-G1-G3 pattern.

9606:GLYATL2
gene id: 9606:GLYATL2
uniprot id: A0A024R4Z5
uniprot id: Q8WU03
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acetylation at Lys-19 drastically decreases the production of N-oleoyl and N-arachidonoyl glycines.
messages: Belongs to the glycine N-acyltransferase family.
messages: Endoplasmic reticulum
messages: Expressed at highest levels in salivary gland and trachea. Also detected in thyroid gland, spinal cord, prostate, lung and fetal brain.
messages: Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine (PubMed:22475485, PubMed:20305126). Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine (PubMed:20305126).

9606:GOLGA2
gene id: 9606:GOLGA2
uniprot id: Q08379
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GOLGA2 family.
messages: Cleaved by caspases at the onset of apoptosis.
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: Extended rod-like protein with long coiled-coil domains.
messages: Homodimer, may assemble into homohexamers (PubMed:26363069). Homotetramer; forms a parallel homotetramer with a flexible rod-like structure that can give rise to I- and Y-shaped conformations (By similarity). Interacts with GORASP1/GRASP65 (PubMed:16489344, PubMed:18045989, PubMed:26363069). The homooligomer forms a complex with GORASP1 with a 1:1 stoichiometry (By similarity). Interacts with RAB1B that has been activated by GTP-binding (PubMed:11306556). Interacts with p115/USO1; interaction with p115/USO1 inhibits interaction with STX5 and/or RAB1B. Interacts with STX5 (By similarity). Interacts with ZFPL1 (PubMed:18323775). Interacts with AKAP450/AKAP9; leading to recruit AKAP450/AKAP9 to the cis-Golgi (PubMed:19242490).
messages: Methylation by PRMT5 is required for Golgi ribbon formation. While dimethylation at Arg-30 and Arg-35 are confirmed in vivo, it is unclear whether Arg-18 is methylated in vivo.
messages: Peripheral membrane component of the cis-Golgi stack that acts as a membrane skeleton that maintains the structure of the Golgi apparatus, and as a vesicle thether that facilitates vesicle fusion to the Golgi membrane (Probable) (PubMed:16489344). Required for normal protein transport from the endoplasmic reticulum to the Golgi apparatus and the cell membrane (By similarity). Together with p115/USO1 and STX5, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. Plays a central role in mitotic Golgi disassembly: phosphorylation at Ser-37 by CDK1 at the onset of mitosis inhibits the interaction with p115/USO1, preventing tethering of COPI vesicles and thereby inhibiting transport through the Golgi apparatus during mitosis (By similarity). Also plays a key role in spindle pole assembly and centrosome organization (PubMed:26165940). Promotes the mitotic spindle pole assembly by activating the spindle assembly factor TPX2 to nucleate microtubules around the Golgi and capture them to couple mitotic membranes to the spindle: upon phosphorylation at the onset of mitosis, GOLGA2 interacts with importin-alpha via the nuclear localization signal region, leading to recruit importin-alpha to the Golgi membranes and liberate the spindle assembly factor TPX2 from importin-alpha. TPX2 then activates AURKA kinase and stimulates local microtubule nucleation. Upon filament assembly, nascent microtubules are further captured by GOLGA2, thus linking Golgi membranes to the spindle (PubMed:19242490, PubMed:26165940). Regulates the meiotic spindle pole assembly, probably via the same mechanism (By similarity). Also regulates the centrosome organization (PubMed:18045989, PubMed:19109421). Also required for the Golgi ribbon formation and glycosylation of membrane and secretory proteins (PubMed:16489344, PubMed:17314401).
messages: Phosphorylated at Ser-37 by CDK1 at the onset of mitosis, inhibiting the interaction with p115/USO1 and triggering Golgi disassembly (PubMed:20421892, PubMed:26165940). Phosphorylated at Ser-37 in prophase as the Golgi complex starts to break down, and remains phosphorylated during further breakdown and partitioning of the Golgi fragments in metaphase and anaphase. In telophase, GM130 is dephosphorylated by PP2A as the Golgi fragments start to reassemble (By similarity).
messages: Sequence differs from that shown after position 826 due to an internal deletion.
messages: The nuclear localization signal (cNLS) mediates interaction with importin-alpha, recruiting importin-alpha to the Golgi membrane and liberating TPX2.
messages: cis-Golgi network membrane
messages: spindle pole

9606:AP3M2
gene id: 9606:AP3M2
uniprot id: A0A384NYL6
uniprot id: P53677
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2).
messages: Belongs to the adaptor complexes medium subunit family.
messages: Cytoplasmic vesicle membrane
messages: Golgi apparatus
messages: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.

9606:DDX51
gene id: 9606:DDX51
uniprot id: Q8N8A6
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits.
messages: Belongs to the DEAD box helicase family. DDX51/DBP6 subfamily.
messages: The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
messages: nucleolus

9606:KLF4
gene id: 9606:KLF4
uniprot id: O43474
names: Biotechnology
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Interacts with POU5F1/OCT4 and SOX2 (By similarity). Interacts with MUC1 (via the C-terminal domain) (PubMed:17308127). Interacts with MEIS2 isoform 4 and PBX1 isoform PBX1a (PubMed:21746878). Interacts with ZNF296 (By similarity). Interacts with GLIS1 (PubMed:21654807). Interacts with BTRC; this interaction leads to KLF4 ubiquitination and subsequent degradation (By similarity).
messages: Nucleus
messages: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes.
messages: Polyglutamylated by TTLL1 and TTLL4 at Glu-411, which inhibits KLF4 binding with E3 ligase component BTRC, thereby impeding ubiquitination. Deglutamylated by CCP1 and CCP6; deglutamylation promotes KLF4 ubiquitination. KLF4 glutamylation state plays a critical role in the regulation of its function in cell reprogramming, pluripotency maintenance and embryogenesis.
messages: Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also function in skeletal and kidney development. Contributes to the down-regulation of p53/TP53 transcription.
messages: Ubiquitinated. 'Lys-48'-linked ubiquitinated and targeted for proteasomal degradation by the SCF(BTRC) E3 ubiquitin-protein ligase complex, thereby negatively regulating cell pluripotency maintenance and embryogenesis.
messages: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

9606:PCDHB9
gene id: 9606:PCDHB9
uniprot id: Q9Y5E1
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:AKAP8L
gene id: 9606:AKAP8L
uniprot id: Q9ULX6
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Can synergize with DHX9 to activate the CTE-mediated gene expression of type D retroviruses.
messages: (Microbial infection) In case of EBV infection, may target PRKACA to EBNA-LP-containing nuclear sites to modulate transcription from specific promoters.
messages: (Microbial infection) In case of HIV-1 infection, involved in the DHX9-promoted annealing of host tRNA(Lys3) to viral genomic RNA as a primer in reverse transcription; in vitro negatively regulates DHX9 annealing activity.
messages: Belongs to the AKAP95 family.
messages: Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export (PubMed:10748171, PubMed:11402034). Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA (PubMed:10761695, PubMed:11884601). May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis (PubMed:11034899). May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta (PubMed:12538639). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function seems to act redundantly with AKAP8 (PubMed:16980585). May be involved in regulation of pre-mRNA splicing (PubMed:17594903).
messages: Cytoplasm
messages: Interacts (via N-terminus) with DHX9 (via RGG region) (PubMed:10748171, PubMed:11402034). Interacts with TMPO isoform Beta, PRPF40A, RNF43, lamin-B (PubMed:11034899, PubMed:12538639 PubMed:16391387, PubMed:18313049). Interacts with HDAC3; increased during mitosis (PubMed:16980585). Interacts with EBV EBNA-LP (PubMed:11160753). Interacts with HIV-1 reverse transcriptase/ribonuclease H (PubMed:25034436).
messages: Nucleus
messages: Nucleus matrix
messages: Nucleus speckle
messages: PML body
messages: Phosphorylated on serine or threonine residues possibly by PKA; probably modulating the interaction with TMPO isoform Beta.
messages: Ubiquitously expressed. Expressed in the brain cortex (at protein level).

9606:ST3GAL6
gene id: 9606:ST3GAL6
uniprot id: A0A087WXB8
uniprot id: Q9Y274
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 29 family.
messages: Golgi apparatus membrane
messages: Involved in the synthesis of sialyl-paragloboside, a precursor of sialyl-Lewis X determinant. Has a alpha-2,3-sialyltransferase activity toward Gal-beta1,4-GlcNAc structure on glycoproteins and glycolipids. Has a restricted substrate specificity, it utilizes Gal-beta1,4-GlcNAc on glycoproteins, and neolactotetraosylceramide and neolactohexaosylceramide, but not lactotetraosylceramide, lactosylceramide or asialo-GM1.
messages: Membrane
messages: Ubiquitous.

9606:AFF3
gene id: 9606:AFF3
uniprot id: P51826
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the AF4 family.
messages: Nucleus
messages: Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.
messages: Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZNF282
gene id: 9606:ZNF282
uniprot id: A0A090N8Y3
uniprot id: Q9UDV7
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Binds to the U5 repressive element (U5RE) of the human T cell leukemia virus type I long terminal repeat. It recognizes the 5'-TCCACCCC-3' sequence as a core motif and exerts a strong repressive effect on HTLV-I LTR-mediated expression.
messages: Nucleus
messages: The sequence shown here is derived from an EMBL/GenBank/DDBJ whole genome shotgun (WGS) entry which is preliminary data.
messages: Ubiquitous.

9606:EXOC3L1
gene id: 9606:EXOC3L1
uniprot id: A0A024R6U6
uniprot id: Q86VI1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: As part of the exocyst, may play a role in regulated exocytosis of insulin granules.
messages: Belongs to the SEC6 family.
messages: Interacts with EXOC2, EXOC4 and EXOC5; may be part of the exocyst.
messages: secretory vesicle

9606:SATL1
gene id: 9606:SATL1
uniprot id: Q86VE3
names: Similarity
messages: Belongs to the acetyltransferase family.

9606:MYBL2
gene id: 9606:MYBL2
uniprot id: P10244
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL22. Interacts with CCNF (via the Cyclin N-terminal domain) (PubMed:25557911).
messages: Nucleus
messages: Phosphorylated by cyclin A/CDK2 during S-phase. Phosphorylation at Thr-520 is probably involved in transcriptional activity.
messages: Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene.

9606:HAX1
gene id: 9606:HAX1
uniprot id: O00165
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the HAX1 family.
messages: Cell membrane
messages: Cytoplasm
messages: Cytoplasmic vesicle
messages: Endoplasmic reticulum
messages: Interacts with ABCB1, ABCB4 and ABCB11 (By similarity). Directly associates with HCLS1/HS1, through binding to its N-terminal region (PubMed:9058808). Interacts with CTTN (By similarity). Interacts with PKD2 (PubMed:10760273). Interacts with GNA13 (PubMed:15339924). Interacts with CASP9 (PubMed:16857965). Interacts with ITGB6 (PubMed:17545607). Interacts with PLN and ATP2A2; these interactions are inhibited by calcium (PubMed:17241641, PubMed:18971376). Interacts with GRB7 (PubMed:20665473). Interacts (via C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4 (PubMed:20171186). Interacts with TPC2 (PubMed:24188827). Interacts with KCNC3 (PubMed:26997484). Interacts with XPO1 (PubMed:23164465). Interacts with RNF217 (PubMed:25298122).
messages: Mitochondrion
messages: Nucleus
messages: Nucleus membrane
messages: P-body
messages: Proteolytically cleaved by caspase-3 during apoptosis.
messages: Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.
messages: Sarcoplasmic reticulum
messages: The disease is caused by variants affecting the gene represented in this entry. The clinical phenotype due to HAX1 deficiency appears to depend on the localization of the mutations and their influence on the transcript variants. Mutations affecting exclusively isoform 1 are associated with isolated congenital neutropenia, whereas mutations affecting both isoform 1 and isoform 5 are associated with additional neurologic symptoms (PubMed:18337561).
messages: Ubiquitous. Up-regulated in oral cancers.
messages: cell cortex

9606:NUDT14
gene id: 9606:NUDT14
uniprot id: O95848
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Nudix hydrolase family.
messages: Cytoplasm
messages: Homodimer.
messages: Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and ADP-ribose to ribose 5-phosphate and AMP. The physiological substrate is probably UDP-glucose. Poor activity on other substrates such as ADP-glucose, CDP-glucose, GDP-glucose and GDP-mannose.

9606:ABCD3
gene id: 9606:ABCD3
uniprot id: P28288
names: Caution
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
messages: Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the cytosol to the peroxisome lumen for beta-oxydation (PubMed:11248239, PubMed:25168382, PubMed:24333844, PubMed:29397936). Has fatty acyl-CoA thioesterase and ATPase activities (PubMed:29397936). Probably hydrolyzes fatty acyl-CoAs into free fatty acids prior to their ATP-dependent transport into peroxisomes (By similarity). Thus, play a role in regulation of LCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation (PubMed:25944712, PubMed:24333844).
messages: Homodimers (PubMed:17609205). Can form heterodimers with ABCD1 and ABCD2 (PubMed:10777694, PubMed:10551832, PubMed:17609205). Dimerization is necessary to form an active transporter (PubMed:17609205). Interacts with PEX19; mediates the targeting of ABCD3 to peroxisomes (PubMed:10704444, PubMed:16344115, PubMed:17761678).
messages: Mutation in ABCD3 have been found in two individuals affected by Zellweger syndrome (PubMed:1301993). Later studies, however, showed unambiguously that a PEX1 defect was the underlying cause of the defect in peroxisome biogenesis in these patients (PubMed:9539740).
messages: Peroxisome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by PEX2 during pexophagy in response to starvation, leading to its degradation.

9606:ITPR3
gene id: 9606:ITPR3
uniprot id: A6H8K3
uniprot id: Q14573
uniprot id: Q59ES2
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the InsP3 receptor family.
messages: Endoplasmic reticulum membrane
messages: Expressed in intestinal crypt and villus epithelial cells.
messages: Homotetramer.
messages: Homotetramer. Interacts with TRPC1, TRPC3 and TRPC4. Interacts with TRPV4 (PubMed:18826956). Interacts with SIGMAR1 (By similarity). Interacts with PML and AKT1 (By similarity). Interacts with IRAG2 (via coiled-coil domain) (By similarity). Interacts with CABP1 (PubMed:12032348). Interacts with TMBIM4/LFG4 (PubMed:19553469). Interacts with CEMIP (PubMed:23936024). Interacts with TESPA1 (By similarity). Interacts with TMEM203 (PubMed:25996873). Interacts with BOK; regulates ITPR3 expression (By similarity). Interacts with BCL2L10 (PubMed:27995898).
messages: Membrane
messages: Phosphorylated on tyrosine residues. Phosphorylated by AKT1 on serine and/or threonine residues (By similarity).
messages: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium.
messages: The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.

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
names: Cofactor
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the HAD-like hydrolase superfamily. EYA family.
messages: Binds 1 Mg(2+) ion per subunit.
messages: Cytoplasm
messages: Detected in cytoplasm of somite cells at the beginning of fourth week of development. Detected in cytoplasm of limb bud cell between the sixth and eighth week of development.
messages: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).
messages: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.
messages: Nucleus
messages: Probably interacts with SIX2, SIX4 and SIX5. Interacts with H2AX in response to DNA damage. Interacts with SIX3; promotes EYA1 translocation to the nucleus.
messages: Sumoylated with SUMO1.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PRIMPOL
gene id: 9606:PRIMPOL
uniprot id: A0A5S6SZ32
uniprot id: Q96LW4
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eukaryotic-type primase small subunit family.
messages: Can act both with Mn(2+) and Mg(2+) as cofactor in vitro, but Mn(2+) is the preferred cofactor in vivo (PubMed:25255211, PubMed:25746449, PubMed:27989484, PubMed:30889508, PubMed:30633872). The polymerase activity incorporates correct dNTPs with much higher efficiency with Mn(2+) than with Mg(2+) (PubMed:25255211, PubMed:30889508). The fidelity is slightly more accurate when Mg(2+) is the cofactor compared to Mn(2+) (PubMed:25255211, PubMed:30889508). In the presence of Mn(2+), a conformational transition step from non-productive to productive PRIMPOL:DNA complexes limits the enzymatic turnover, whereas in the presence of Mg(2+), the chemical step becomes rate limiting (PubMed:30633872).
messages: Chromosome
messages: DNA primase and DNA polymerase required to tolerate replication-stalling lesions by bypassing them (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25255211, PubMed:24682820, PubMed:25262353, PubMed:25746449, PubMed:25550423, PubMed:27989484, PubMed:29608762, PubMed:30889508, PubMed:28534480). Required to facilitate mitochondrial and nuclear replication fork progression by initiating de novo DNA synthesis using dNTPs and acting as an error-prone DNA polymerase able to bypass certain DNA lesions (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25255211, PubMed:24682820, PubMed:25262353, PubMed:25746449, PubMed:25550423, PubMed:27989484, PubMed:29608762, PubMed:30889508, PubMed:30633872, PubMed:28534480). Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25746449). Provides different translesion synthesis alternatives when DNA replication is stalled: able to synthesize DNA primers downstream of lesions, such as ultraviolet (UV) lesions, R-loops and G-quadruplexes, to allow DNA replication to continue (PubMed:24240614, PubMed:26626482, PubMed:28534480, PubMed:30478192). Can also realign primers ahead of 'unreadable lesions' such as abasic sites and 6-4 photoproduct (6-4 pyrimidine-pyrimidinone), thereby skipping the lesion (PubMed:25746449). Also able to incorporate nucleotides opposite DNA lesions such as 8oxoG, like a regular translesion synthesis DNA polymerase (PubMed:24207056, PubMed:25255211, PubMed:25746449). Also required for reinitiating stalled forks after UV damage during nuclear DNA replication (PubMed:24240614). Required for mitochondrial DNA (mtDNA) synthesis and replication, by reinitiating synthesis after UV damage or in the presence of chain-terminating nucleotides (PubMed:24207056). Prevents APOBEC family-mediated DNA mutagenesis by repriming downstream of abasic site to prohibit err…
messages: Interacts with RPA1; leading to recruitment to chromatin and stimulate DNA primase activity (PubMed:24126761, PubMed:25550423, PubMed:28396594, PubMed:28534480). Interacts with SSBP1 (PubMed:25550423). Interacts with POLDIP2; leading to enhance DNA polymerase activity (PubMed:26984527).
messages: Involved in adaptive response to cisplatin, a chemotherapeutic that causes reversal of replication forks, in cancer cells: reinitiates DNA synthesis past DNA lesions in BRCA1-deficient cancer cells treated with cisplatin via its de novo priming activity (PubMed:31676232). Repriming rescues fork degradation while leading to accumulation of internal ssDNA gaps behind the forks (PubMed:31676232). ATR regulates adaptive response to cisplatin (PubMed:31676232).
messages: Mitochondrion matrix
messages: Nucleus
messages: The RPA1-binding motifs (RBM) mediate interaction with RPA1 and are essential for recruitment to chromatin (PubMed:28534480). The interaction is primarily mediated by RPA1-binding motif 1, which binds to the basic cleft of RPA1, with motif 2 plays a supporting role in RPA1-binding (PubMed:28534480).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The presence of an Asp-Aaa-Glu (DxE) motif in the metal-binding active site favors the use of Mn(2+) ions to achieve optimal incoming nucleotide stabilization, especially required during primer synthesis (PubMed:30889508). Glu-116 is required to stabilize the incoming nucleotide at the 3'-site (PubMed:30889508).
messages: The zinc knuckle motif binds zinc and is required for the DNA primase activity (PubMed:24682820, PubMed:29608762). It facilitates the binding and selection of the 5'-nucleotide of the newly synthesized primer and the recognition of preferred initiation sites (PubMed:29608762).

9606:WDFY2
gene id: 9606:WDFY2
uniprot id: Q96P53
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2 (PubMed:17313651). Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti-adipogenetic transcription factor FOXO1 by the kinase AKT1 (PubMed:18388859). Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates (By similarity). Participates in transferrin receptor endocytosis (PubMed:16873553).
messages: Cytoplasm
messages: Early endosome
messages: Endosome
messages: Homodimer (PubMed:16792529). Interacts (via WD repeats 1-3) with AKT1, AKT2, PRKCZ and PRKCI (PubMed:16792529). Interacts with VAMP2 (PubMed:17313651). Forms a complex with VAMP2 and PRKCZ (PubMed:17313651). Interacts with FOXO1 (By similarity). Forms a complex with AKT1 and FOXO1 (By similarity).
messages: The FYVE-type zinc finger is essential for its vesicular localization.

9606:SP5
gene id: 9606:SP5
uniprot id: Q6BEB4
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Sp1 C2H2-type zinc-finger protein family.
messages: Binds to GC boxes promoters elements. Probable transcriptional activator that has a role in the coordination of changes in transcription required to generate pattern in the developing embryo (By similarity).
messages: Nucleus
messages: The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

9606:EXOSC5
gene id: 9606:EXOSC5
uniprot id: Q9NQT4
names: Caution
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RNase PH family.
messages: Component of the RNA exosome complex (PubMed:29906447). Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Interacts with EXOSC1. Interacts with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1 in an RNA-independent manner.
messages: Cytoplasm
messages: Highly expressed in a variety of hematopoietic and epithelial tumor cell lines, but not in normal hematopoietic tissues or other normal tissue, with the exception of testis.
messages: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The six exosome core subunits containing a RNase PH-domain are not phosphorolytically active.
messages: nucleolus

9606:YIPF7
gene id: 9606:YIPF7
uniprot id: Q8N8F6
names: Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the YIP1 family.
messages: Endoplasmic reticulum membrane
messages: It is uncertain whether Met-1 or Met-25 is the initiator.
messages: cis-Golgi network membrane
messages: trans-Golgi network membrane

9606:UBE2U
gene id: 9606:UBE2U
uniprot id: A0A0A0MRP4
uniprot id: A0A140VJY9
uniprot id: Q5VVX9
names: Function
names: PTM
names: Similarity
messages: Autoubiquitinated in vitro in the presence of UBR5.
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: Catalyzes the covalent attachment of ubiquitin to other proteins.

9606:RFC4
gene id: 9606:RFC4
uniprot id: P35249
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the activator 1 small subunits family.
messages: Despite of the presence of a putative ATP-binding motif, this protein does not bind ATP.
messages: Heterotetramer of subunits RFC2, RFC3, RFC4 and RFC5 that can form a complex either with RFC1 or with RAD17. The former interacts with PCNA in the presence of ATP, while the latter has ATPase activity but is not stimulated by PCNA. Interacts with CNTD1; this interaction facilitates crossover formation (By similarity).
messages: Nucleus
messages: The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit may be involved in the elongation of the multiprimed DNA template.

9606:TPBGL
gene id: 9606:TPBGL
uniprot id: P0DKB5
names: Subcellular Location Annotation
messages: Membrane

9606:CELA3B
gene id: 9606:CELA3B
uniprot id: P08861
names: Caution
names: Function
names: Similarity
names: Tissue Specificity
messages: Belongs to the peptidase S1 family. Elastase subfamily.
messages: Efficient protease with alanine specificity but only little elastolytic activity.
messages: Pancreas. Not detectable in keratinocytes.
messages: Was originally thought to be elastase 1.

9606:PYY
gene id: 9606:PYY
uniprot id: P10082
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the NPY family.
messages: Secreted
messages: The peptide YY form is cleaved at Pro-30 by the prolyl endopeptidase FAP (seprase) activity (in vitro) to generate peptide YY(3-36).
messages: This gut peptide inhibits exocrine pancreatic secretion, has a vasoconstrictory action and inhibitis jejunal and colonic mobility.

9606:RBM5
gene id: 9606:RBM5
uniprot id: A0A024R2U6
uniprot id: P52756
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RBM5/RBM10 family.
messages: Component of the spliceosome A complex (also known as the prespliceosome). Appears to dissociate from the spliceosome upon formation of the spliceosome B complex (also known as the precatalytic spliceosome), in which the heterotrimeric U4/U6.U5 snRNPs are bound. Interacts with U2AF2; this interaction is direct. Also interacts with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200; these interactions may be indirect.
messages: Component of the spliceosome A complex. Regulates alternative splicing of a number of mRNAs. May modulate splice site pairing after recruitment of the U1 and U2 snRNPs to the 5' and 3' splice sites of the intron. May both positively and negatively regulate apoptosis by regulating the alternative splicing of several genes involved in this process, including FAS and CASP2/caspase-2. In the case of FAS, promotes exclusion of exon 6 thereby producing a soluble form of FAS that inhibits apoptosis. In the case of CASP2/caspase-2, promotes exclusion of exon 9 thereby producing a catalytically active form of CASP2/Caspase-2 that induces apoptosis.
messages: Isoform 5 is widely expressed in normal tissues and is expressed at increased levels in T-leukemic cell lines.
messages: Nucleus

9606:NRM
gene id: 9606:NRM
uniprot id: A0A1U9X845
uniprot id: B3KQU6
uniprot id: Q8IXM6
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the nurim family.
messages: Membrane
messages: Nucleus inner membrane

9606:CBX4
gene id: 9606:CBX4
uniprot id: A0A0S2Z5B2
uniprot id: O00257
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant splicing.
messages: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:12167701, PubMed:19636380, PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:12167701, PubMed:19636380, PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity).
messages: E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I (PubMed:12679040). Involved in the sumoylation of HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation resulting in p21/CDKN1A expression. Monosumoylates ZNF131 (PubMed:22825850).
messages: Interacts with histone H3-K9Me3 (By similarity). Interacts with CHTOP (By similarity). Component of a PRC1-like complex (PubMed:12167701, PubMed:19636380, PubMed:21282530). The composition of the PRC1 complex differs between the PRC1 complex in pluripotent embryonic stem cells containing RNF2, CBX7 and PCGF2, and the PRC1 complex in differentiating cells containing RNF2, CBX2, CBX4 and BMI1 (By similarity). Self-associates (PubMed:21282530). Interacts with SUV39H1 and HIPK2 (PubMed:12101246, PubMed:17018294). Interacts with CSNK2B (PubMed:21282530). May interact with H3C15, H3C1 and RNF2 (PubMed:18927235). Interacts with SUMO1P1/SUMO5 (PubMed:27211601). Interacts with PRDM1/Blimp-1 (PubMed:28842558).
messages: Nucleus
messages: Nucleus speckle
messages: Phosphorylated on Thr-497 by HIPK2 upon DNA damage. This phosphorylation stimulates E3 SUMO-protein ligase activity and promotes sumoylation on Lys-494, as well as sumoylation of other target proteins, such as HNRNPK.
messages: The human orthologs of the Drosophila Polycomb group protein Pc are CBX2, CBX4, CBX6, CBX7 and CBX8. These show distinct nuclear localizations, contribute differently to transcriptional repression, and appear to be part of distinct PRC1-like protein complexes. The hPRC-H complex purified in PubMed:12167701 probably presents a mixture of different complexes containing different Polycomb group proteins.
messages: The polyhistidine repeat may act as a targeting signal to nuclear speckles.
messages: Ubiquitous.

9606:IKBKG
gene id: 9606:IKBKG
uniprot id: Q9Y6K9
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Also considered to be a mediator for HTLV-1 Tax oncoprotein activation of NF-kappa-B.
messages: (Microbial infection) Cleaved by hepatitis A virus (HAV) protease 3C allowing the virus to disrupt the host innate immune signaling.
messages: (Microbial infection) Interacts with HTLV-1 Tax oncoprotein; the interaction activates IKBKG.
messages: (Microbial infection) Interacts with Molluscum contagiosum virus protein MC005; this interaction inhibits NF-kappa-B activation.
messages: (Microbial infection) Interacts with SARS coronavirus-2/SARS-CoV-2 virus protein ORF9B (via N-terminus); the interaction inhibits polyubiquitination through 'Lys-63' and NF-kappa-B activation.
messages: (Microbial infection) Interacts with Shigella flexneri ipah9.8; the interaction promotes TNIP1-dependent 'Lys-27'-linked polyubiquitination of IKBKG which perturbs NF-kappa-B activation during bacterial infection.
messages: (Microbial infection) Polyubiquitinated on Lys-309 and Lys-321 via 'Lys-27'-linked ubiquitin by Shigella flexneri E3 ubiquitin-protein ligase ipah9.8, leading to its degradation by the proteasome.
messages: (Microbial infection) Polyubiquitination through 'Lys-63' is interrupted by interaction with SARS coronavirus-2/SARS-CoV-2 virus protein ORF9B which inhibits the NF-kappa-B pathway.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
messages: Homodimer; disulfide-linked (PubMed:18164680). Component of the I-kappa-B-kinase (IKK) core complex consisting of CHUK, IKBKB and IKBKG; probably four alpha/CHUK-beta/IKBKB dimers are associated with four gamma/IKBKG subunits (PubMed:9751060, PubMed:9891086, PubMed:11080499, PubMed:18462684, PubMed:17977820, PubMed:32935379). The IKK core complex seems to associate with regulatory or adapter proteins to form a IKK-signalosome holo-complex (PubMed:9751060, PubMed:9891086, PubMed:11080499). The IKK complex associates with TERF2IP/RAP1, leading to promote IKK-mediated phosphorylation of RELA/p65 (By similarity). Part of a complex composed of NCOA2, NCOA3, CHUK/IKKA, IKBKB, IKBKG and CREBBP (PubMed:11971985). Interacts with COPS3, CYLD, NALP2, TRPC4AP and PIDD1 (PubMed:15456791, PubMed:16360037, PubMed:12917691, PubMed:11418127). Interacts with ATM; the complex is exported from the nucleus (PubMed:16497931). Interacts with TRAF6 (PubMed:17728323). Interacts with IKBKE (PubMed:23453969). Interacts with TANK; the interaction is enhanced by IKBKE and TBK1 (PubMed:12133833). Part of a ternary complex consisting of TANK, IKBKB and IKBKG (PubMed:12133833). Interacts with ZFAND5 (PubMed:14754897). Interacts with RIPK2 (PubMed:18079694). Interacts with TNIP1 and TNFAIP3; TNIP1 facilitates the TNFAIP3-mediated de-ubiquitination of IKBKG (PubMed:11389905, PubMed:22099304). Interacts with TNFAIP3; the interaction is induced by TNF stimulation and by polyubiquitin (PubMed:11389905, PubMed:22099304). Binds (via UBAN region) polyubiquitin; binds both 'Lys-63'-linked and linear polyubiquitin, with higher affinity for linear ubiquitin (PubMed:16547522, PubMed:19033441, PubMed:21606507, PubMed:19185524). Interacts with NLRP10 (PubMed:22672233). Interacts with TANK; this interaction increases in response to DNA damage (PubMed:25861989). Interacts with USP10; this interaction increases in response to DNA damage (PubMed:25861989). Interacts with ZC3H12A; this interaction increases in respo…
messages: Neddylated by TRIM40, resulting in stabilization of NFKBIA and down-regulation of NF-kappa-B activity.
messages: Nucleus
messages: Phosphorylation at Ser-68 attenuates aminoterminal homodimerization.
messages: Polyubiquitinated on Lys-285 through 'Lys-63'; the ubiquitination is mediated by NOD2 and RIPK2 and probably plays a role in signaling by facilitating interactions with ubiquitin domain-containing proteins and activates the NF-kappa-B pathway. Polyubiquitinated on Lys-399 through 'Lys-63'; the ubiquitination is mediated by BCL10, MALT1 and TRAF6 and probably plays a role in signaling by facilitating interactions with ubiquitin domain-containing proteins and activates the NF-kappa-B pathway. Monoubiquitinated on Lys-277 and Lys-309; promotes nuclear export. Polyubiquitinated through 'Lys-27' by TRIM23; involved in antiviral innate and inflammatory responses. Linear polyubiquitinated on Lys-111, Lys-143, Lys-226, Lys-246, Lys-264, Lys-277, Lys-285, Lys-292, Lys-302, Lys-309 and Lys-326; the head-to-tail polyubiquitination is mediated by the LUBAC complex and plays a key role in NF-kappa-B activation. Deubiquitinated by USP10 in a TANK-dependent and -independent manner, leading to the negative regulation of NF-kappa-B signaling upon DNA damage (PubMed:25861989). Ubiquitinated at Lys-326 by MARCHF2 following bacterial and viral infection which leads to its degradation (PubMed:32935379).
messages: Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor (PubMed:9751060, PubMed:14695475, PubMed:20724660). Its binding to scaffolding polyubiquitin plays a key role in IKK activation by multiple signaling receptor pathways (PubMed:16547522, PubMed:18287044, PubMed:19033441, PubMed:21606507, PubMed:27777308, PubMed:19185524, PubMed:33567255). Can recognize and bind both 'Lys-63'-linked and linear polyubiquitin upon cell stimulation, with a much higher affinity for linear polyubiquitin (PubMed:16547522, PubMed:18287044, PubMed:27777308, PubMed:19033441, PubMed:21606507, PubMed:19185524). Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. Essential for viral activation of IRF3 (PubMed:19854139). Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires 'Lys-27'-linked polyubiquitination (PubMed:20724660).
messages: Sumoylated on Lys-277 and Lys-309 with SUMO1; the modification results in phosphorylation of Ser-85 by ATM leading to a replacement of the sumoylation by mono-ubiquitination on these residues.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The leucine-zipper domain and the CCHC NOA-type zinc-fingers constitute the UBAN region and are essential for polyubiquitin binding and for the activation of IRF3.

9606:ZNF432
gene id: 9606:ZNF432
uniprot id: O94892
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:HPS3
gene id: 9606:HPS3
uniprot id: G5E9V4
uniprot id: Q969F9
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6.
messages: Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS5 (PubMed:15030569). Interacts with HPS6 (PubMed:15030569, PubMed:25189619).
messages: Cytoplasm
messages: Involved in early stages of melanosome biogenesis and maturation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.
messages: cytosol

9606:TMPRSS3
gene id: 9606:TMPRSS3
uniprot id: P57727
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the peptidase S1 family.
messages: Endoplasmic reticulum membrane
messages: Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.
messages: Has a predicted N-terminal signal sequence, indicating it may be secreted. Expressed in retina, lung, liver, pancreas, placenta and kidney.
messages: Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Undergoes autoproteolytic activation.

9606:SCAP
gene id: 9606:SCAP
uniprot id: B7Z6H0
uniprot id: Q12770
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the WD repeat SCAP family.
messages: By androgen-bound AR and glucocorticoid-bound NR3C1 in a prostate cancer cell line (LNCaP).
messages: COPII-coated vesicle membrane
messages: Cholesterol bound to SSD domain of SCAP or oxysterol bound to INSIG (INSIG1 or INSIG2) leads to masking of an ER export signal (also named MELADL motif) on SCAP possibly by moving the signal further away from the ER membrane.
messages: Endoplasmic reticulum membrane
messages: Escort protein required for cholesterol as well as lipid homeostasis (By similarity). Regulates export of the SCAP-SREBP complex from the endoplasmic reticulum to the Golgi upon low cholesterol, thereby regulating the processing of sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (By similarity). At high sterol concentrations, formation of a ternary complex with INSIG (INSIG1 or INSIG2) leads to mask the ER export signal in SCAP, promoting retention of the complex in the endoplasmic reticulum (By similarity). Low sterol concentrations trigger release of INSIG, a conformational change in the SSD domain of SCAP, unmasking of the ER export signal, promoting recruitment into COPII-coated vesicles and transport of the SCAP-SREBP to the Golgi: in the Golgi, SREBPs are then processed, releasing the transcription factor fragment of SREBPs from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway (By similarity). Binds cholesterol via its SSD domain (By similarity).
messages: Golgi apparatus membrane
messages: Loop-1 binds to loop-7, enabling interaction with COPII-coated vesicles. When levels of cholesterol in the endoplasmic reticulum increase, Loop-1 binds to cholesterol instead, thereby disrupting direct binding between the two loops and preventing the SCAP-SREBP complex from exiting the endoplasmic reticulum.
messages: Membrane region forms a homotetramer (By similarity). Component of the SCAP-SREBP complex (composed of SCAP and SREBF1/SREBP1 or SREBF2/SREBP2); interacts with SREBF1/SREBP1 or SREBF2/SREBP2 through its C-terminal cytoplasmic domain (By similarity). Forms a ternary complex with INSIG1 or INSIG2 through its transmembrane domains at high sterol concentrations (PubMed:17428920, PubMed:26160948). Interacts with the SEC23-SEC24 complex in a SAR1-GTP-dependent manner through an ER export signal in its third cytoplasmic loop (By similarity). Interacts with RNF139; the interaction inhibits the interaction of SCAP with SEC24B and hampering the ER to Golgi transport of the SCAP-SREBP complex (PubMed:19706601). Interacts with SPRING1 (PubMed:32111832).
messages: Ubiquitinated at Lys-454 and Lys-466. RNF145 triggers ubiquitination of SCAP, likely inhibiting SCAP-SREBP complex transport to the Golgi apparatus and the subsequent processing/maturation of SREBF2/SREBP2.

9606:ANKRD31
gene id: 9606:ANKRD31
uniprot id: Q8N7Z5
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Chromosome
messages: Interacts with REC114; the interaction is direct. Interacts with IHO1.
messages: Nucleus
messages: Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes.

9606:SS18L2
gene id: 9606:SS18L2
uniprot id: A0A024R2Q8
uniprot id: Q9UHA2
names: Similarity
messages: Belongs to the SS18 family.

9606:TCIM
gene id: 9606:TCIM
uniprot id: Q9NR00
names: Function
names: Induction
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Induced by pro-inflammatory cytokines such as TNF and IL1B, via NF-kappaB signaling (PubMed:16730711, PubMed:19684084). Induced by cellular stresses such as heat shock, TPA, lipopolysaccharide and UV (PubMed:17603013). Induced by mitogens such as thrombin (PubMed:18959821).
messages: Monomer. Interacts with NOTCH2 (via ANK repeats), the interaction inhibits the nuclear translocation of NOTCH2 N2ICD (PubMed:25985737). Interacts (C-terminus) with CBY1 (C-terminus), TCIM competes with CTNNB1 for the interaction with CBY1 (PubMed:16424001).
messages: Nucleus
messages: Nucleus speckle
messages: Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type. May enhance the WNT-CTNNB1 pathway by relieving antagonistic activity of CBY1 (PubMed:16424001, PubMed:16730711). Enhances the proliferation of follicular dendritic cells (PubMed:16730711). Plays a role in the mitogen-activated MAPK2/3 signaling pathway, positively regulates G1-to-S-phase transition of the cell cycle (PubMed:18959821). In endothelial cells, enhances key inflammatory mediators and inflammatory response through the modulation of NF-kappaB transcriptional regulatory activity (PubMed:19684084). Involved in the regulation of heat shock response, seems to play a positive feedback with HSF1 to modulate heat-shock downstream gene expression (PubMed:17603013). Plays a role in the regulation of hematopoiesis even if the mechanisms are unknown (By similarity). In cancers such as thyroid or lung cancer, it has been described as promoter of cell proliferation, G1-to-S-phase transition and inhibitor of apoptosis (PubMed:15087392, PubMed:24941347). However, it negatively regulates self-renewal of liver cancer cells via suppresion of NOTCH2 signaling (PubMed:25985737).
messages: Ubiquitous. Expressed in thyroid papillary carcinoma. Expressed in liver, expression levels decrease in hepatocellular carcinoma (PubMed:25985737). Slightly detected in normal lung, its expression is highly induced in lung cancer cells (at protein level) (PubMed:24941347).
messages: nucleolus

9606:STYK1
gene id: 9606:STYK1
uniprot id: Q6J9G0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family.
messages: Membrane
messages: Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways (By similarity).
messages: Widely expressed. Highly expressed in brain, placenta and prostate. Expressed in tumor cells such as hepatoma cells L-02, cervix carcinoma cells HeLa, ovary cancer cells Ho8910 and chronic myelogenous leukemia cells K-562, but not in other tumor cells such as epidermoid carcinoma (A-431). Undetectable in most normal lung tissues, widely expressed in lung cancers.

9606:HDGFL2
gene id: 9606:HDGFL2
uniprot id: Q7Z4V5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as an epigenetic regulator of myogenesis in cooperation with DPF3a (isoform 2 of DPF3/BAF45C) (PubMed:32459350). Associates with the BAF complex via its interaction with DPF3a and HDGFL2-DPF3a activate myogenic genes by increasing chromatin accessibility through recruitment of SMARCA4/BRG1/BAF190A (ATPase subunit of the BAF complex) to myogenic gene promoters (PubMed:32459350). Promotes the repair of DNA double-strand breaks (DSBs) through the homologous recombination pathway by facilitating the recruitment of the DNA endonuclease RBBP8 to the DSBs (PubMed:26721387). Preferentially binds to chromatin regions marked by H3K9me3, H3K27me3 and H3K36me2 (PubMed:26721387, PubMed:32459350). Involved in cellular growth control, through the regulation of cyclin D1 expression (PubMed:25689719).
messages: Belongs to the HDGF family.
messages: Cytoplasm
messages: Interacts with HDGF (By similarity). Interacts with trimethylated 'Lys-36' of histone H3 (H3K36me3). Interacts with trimethylated 'Lys-79' of histone H3 (H3K79me3), but has higher affinity for H3K36me3. Interacts with IWS1 (PubMed:25689719). Interacts with H2AX, POGZ, RBBP8 and CBX1 (PubMed:26721387). Interacts with histones H3K9me3, H3K27me3 and H3K36me2 (PubMed:26721387, PubMed:32459350). Interacts with DPF3a (isoform 2 of DPF3/BAF45C) (PubMed:32459350). Interacts with SMARCA4/BRG1/BAF190A, SMARCC1/BAF155 and SMARCD1/BAF60A in a DPF3a-dependent manner (PubMed:32459350).
messages: Nucleus
messages: Widely expressed. High expression is found in heart, skeletal muscle, ovary and testis. Overexpression is frequently observed in hepatocellular carcinoma samples.

9606:H4C5
gene id: 9606:H4C5
uniprot id: B2R4R0
uniprot id: P62805
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation at Lys-6 (H4K5ac), Lys-9 (H4K8ac), Lys-13 (H4K12ac) and Lys-17 (H4K16ac) occurs in coding regions of the genome but not in heterochromatin.
messages: Belongs to the histone H4 family.
messages: Butyrylation of histones marks active promoters and competes with histone acetylation.
messages: Chromosomal aberrations involving HISTONE H4 is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;6)(q27;p21), with BCL6.
messages: Chromosome
messages: Citrullination at Arg-4 (H4R3ci) by PADI4 impairs methylation.
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Glutarylation at Lys-92 (H4K91glu) destabilizes nucleosomes by promoting dissociation of the H2A-H2B dimers from nucleosomes.
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Monomethylated, dimethylated or trimethylated at Lys-21 (H4K20me1, H4K20me2, H4K20me3) (PubMed:12086618, PubMed:15964846, PubMed:17967882). Monomethylation is performed by KMT5A/SET8 (PubMed:15964846). Dimethylation and trimethylation is performed by KMT5B and KMT5C and induces gene silencing (By similarity). Monomethylated at Lys-13 (H4K12me1) by N6AMT1; H4K12me1 modification is present at the promoters of numerous genes encoding cell cycle regulators (PubMed:31061526).
messages: Monomethylation and asymmetric dimethylation at Arg-4 (H4R3me1 and H4R3me2a, respectively) by PRMT1 favors acetylation at Lys-9 (H4K8ac) and Lys-13 (H4K12ac). Demethylation is performed by JMJD6. Symmetric dimethylation on Arg-4 (H4R3me2s) by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
messages: Nucleus
messages: Phosphorylated by PAK2 at Ser-48 (H4S47ph). This phosphorylation increases the association of H3.3-H4 with the histone chaperone HIRA, thus promoting nucleosome assembly of H3.3-H4 and inhibiting nucleosome assembly of H3.1-H4.
messages: Sumoylated, which is associated with transcriptional repression.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED1 is caused by variants in H4C3.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED2 is caused by variants in H4C11.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED3 is caused by variants in H4C5.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED4 is caused by variants in H4C9.
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA (By similarity). Found in a co-chaperone complex with DNJC9, MCM2 and histone H3.3-H4 dimers (PubMed:33857403). Within the complex, interacts with DNJC9 (via C-terminus); the interaction is direct (PubMed:33857403).
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
messages: Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins. Monoubiquitinated at Lys-92 of histone H4 (H4K91ub1) in response to DNA damage. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 Lys-21 methylation (H4K20me).
messages: Ufmylated; monofmylated by UFL1 at Lys-32 (H4K31Ufm1) in response to DNA damage.

9606:ZNF626
gene id: 9606:ZNF626
uniprot id: Q68DY1
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Intron-exon boundaries of the last intron are not canonical, they have a CT-AG boundary.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:PABIR3
gene id: 9606:PABIR3
uniprot id: A0A087WU98
uniprot id: A0A2R8Y7S4
uniprot id: B4DI96
uniprot id: D3DTG4
uniprot id: Q6P187
uniprot id: Q6P4D5
names: Similarity
messages: Belongs to the FAM122 family.

9606:AIP
gene id: 9606:AIP
uniprot id: A0A804HJ38
uniprot id: A0A804HKL7
uniprot id: O00170
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cellular negative regulator of the hepatitis B virus (HBV) X protein.
messages: Cytoplasm
messages: Interacts with RET in the pituitary gland; this interaction prevents the formation of the AIP-survivin complex.
messages: May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Higher levels seen in the heart, placenta and skeletal muscle. Not expressed in the liver.

9606:SLC12A1
gene id: 9606:SLC12A1
uniprot id: B4DPF4
uniprot id: Q13621
uniprot id: Q8IUN5
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by WNK3.
messages: Apical cell membrane
messages: Belongs to the SLC12A transporter family.
messages: Cell membrane
messages: Kidney; localizes to the thick ascending limbs (at protein level).
messages: Membrane
messages: Renal sodium, potassium and chloride ion cotransporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation. Electrically silent transporter system.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: When phosphorylated, interacts with PPP3CB.

9606:ADAM17
gene id: 9606:ADAM17
uniprot id: B2RNB2
uniprot id: P78536
names: Caution
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds 1 zinc ion per subunit.
messages: Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form (PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R, leading to the release of secreted form of IL6R (PubMed:26876177, PubMed:28060820). Mediates the proteolytic cleavage and shedding of FCGR3A upon NK cell stimulation, a mechanism that allows for increased NK cell motility and detachment from opsonized target cells.
messages: In arthritis-affected cartilage.
messages: Interacts with MAD2L1, MAPK14 and MUC1 (PubMed:12441351, PubMed:20188673). Interacts with iRhom1/RHBDF1 and iRhom2/RHBDF2 (PubMed:29897333). Interacts with FRMD8 via its interaction with iRhom1/RHBDF1 and iRhom2/RHBDF2 (PubMed:29897333).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Must be membrane anchored to cleave the different substrates. The cytoplasmic domain is not required for the this activity. Only the catalytic domain is essential to shed TNF and p75 TNFR (By similarity).
messages: Phosphorylated. Stimulation by growth factor or phorbol 12-myristate 13-acetate induces phosphorylation of Ser-819 but decreases phosphorylation of Ser-791. Phosphorylation at Thr-735 by MAPK14 is required for ADAM17-mediated ectodomain shedding.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The precursor is cleaved by a furin endopeptidase.
messages: Ubiquitously expressed. Expressed at highest levels in adult heart, placenta, skeletal muscle, pancreas, spleen, thymus, prostate, testes, ovary and small intestine, and in fetal brain, lung, liver and kidney. Expressed in natural killer cells (at protein level) (PubMed:24337742).

9606:KLRB1
gene id: 9606:KLRB1
uniprot id: Q12918
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By IL12/interleukin-12 in NK cells.
messages: Expressed in a subset of NK cells predominantly in intestinal epithelium and liver. Detected in peripheral blood T-cells and preferentially in adult T-cells with a memory antigenic phenotype.
messages: Homodimer; disulfide-linked. Interacts with acid sphingomyelinase/SMPD1.
messages: Membrane
messages: N-glycosylated. Contains sialic acid residues.
messages: Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells.

9606:CRYBG3
gene id: 9606:CRYBG3
uniprot id: Q68DQ2
names: Function
names: Similarity
names: Subunit
messages: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA).
messages: Belongs to the beta/gamma-crystallin family.
messages: Isoform vlAKAP binds to dimeric RII-alpha regulatory subunit of PKA (PRKAR2A/PRKAR2B).

9606:NOL9
gene id: 9606:NOL9
uniprot id: Q5SY16
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Clp1 family. NOL9/GRC3 subfamily.
messages: Interacts with PELP1, WDR18 and SENP3.
messages: Nucleus
messages: Polynucleotide 5'-kinase involved in rRNA processing. The kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form. In vitro, has both DNA and RNA 5'-kinase activities. Probably binds RNA.
messages: nucleolus

9606:EMC6
gene id: 9606:EMC6
uniprot id: Q9BV81
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the EMC6 family.
messages: Component of the ER membrane protein complex (EMC).
messages: Endoplasmic reticulum membrane
messages: Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:30415835, PubMed:29809151, PubMed:29242231, PubMed:32459176, PubMed:32439656). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:30415835, PubMed:29809151, PubMed:29242231). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:30415835, PubMed:29809151). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29809151, PubMed:29242231). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable).

9606:PSKH2
gene id: 9606:PSKH2
uniprot id: Q96QS6
names: Caution
names: Similarity
messages: Asn-183 is present instead of the conserved Asp which is expected to be an active site residue.
messages: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.

9606:APAF1
gene id: 9606:APAF1
uniprot id: O14727
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: By E2F and p53/TP53 in apoptotic neurons (PubMed:11389439). Translation is inhibited by HNRPA1, which binds to the IRES of APAF1 mRNAs (PubMed:31498791).
messages: Cytoplasm
messages: Monomer. Oligomerizes to a heptameric ring, known as the apoptosome, upon binding of cytochrome c and dATP. Oligomeric Apaf-1 and pro-caspase-9 bind to each other via their respective NH2-terminal CARD domains and consecutively mature caspase-9 is released from the complex. Pro-caspase-3 is recruited into the Apaf-1-pro-caspase-9 complex via interaction with pro-caspase-9. Interacts with APIP. Interacts (via CARD and NACHT domains) with NAIP/BIRC1 (via NACHT domain). Interacts with CIAO2A (PubMed:25716227).
messages: Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis.
messages: Physiological concentrations of calcium ions negatively affect the assembly of apoptosome by inhibiting nucleotide exchange in the monomeric form.
messages: The CARD domain mediates interaction with APIP.
messages: The monomeric form is autoinhibited in a closed conformation through a bound ADP at the nucleotide binding site. Exchange of ADP for ATP and binding of cytochrome c trigger a large conformational change where the first WD repeat region swings out, allowing the NB-ARC domain to rotate and expose the contact areas for oligomerization (By similarity).
messages: Ubiquitous. Highest levels of expression in adult spleen and peripheral blood leukocytes, and in fetal brain, kidney and lung. Isoform 1 is expressed in heart, kidney and liver.

9606:H3C12
gene id: 9606:H3C12
uniprot id: P68431
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability.
messages: Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.
messages: Belongs to the histone H3 family.
messages: Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.
messages: Chromosome
messages: Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Dopaminylated by TGM2 at Gln-6 (H3Q5dop) in ventral tegmental area (VTA) neurons (PubMed:32273471). H3Q5dop mediates neurotransmission-independent role of nuclear dopamine by regulating relapse-related transcriptional plasticity in the reward system (By similarity).
messages: Expressed during S phase, then expression strongly decreases as cell division slows down during the process of differentiation.
messages: HIST1H3B or HIST1H3C mutations affecting residue Lys-37 of histone H3.1 are involved in the pathogenesis of pediatric undifferentiated soft tissue sarcomas. The mechanism through which mutations lead to tumorigenesis involves altered histones methylation with gain of global H3K27 methylation, altered Polycomb repressive complex 1 (PRC1) activity, aberrant epigenetic regulation of gene expression and impaired differentiation of mesenchimal progenitor cells.
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression.
messages: Methylation at Lys-5 (H3K4me), Lys-37 (H3K36me) and Lys-80 (H3K79me) are linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at 'Lys-120'. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication.
messages: Monoubiquitinated by RAG1 in lymphoid cells, monoubiquitination is required for V(D)J recombination (By similarity). Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins.
messages: Nucleus
messages: Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 or isoform M2 of PKM (PKM2) is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Thr-12 (H3T11ph) by chromatin-associated CHEK1 regulates the transcription of cell cycle regulatory genes by modulating acetylation of Lys-10 (H3K9ac). Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin.
messages: Serine ADP-ribosylation by PARP1 or PARP2 constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:30257210, PubMed:34874266). Serine ADP-ribosylation at Ser-11 (H3S10ADPr) promotes recruitment of CHD1L (PubMed:34874266). H3S10ADPr is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac) (PubMed:30257210).
messages: Serotonylated by TGM2 at Gln-6 (H3Q5ser) during serotonergic neuron differentiation (PubMed:30867594). H3Q5ser is associated with trimethylation of Lys-5 (H3K4me3) and enhances general transcription factor IID (TFIID) complex-binding to H3K4me3, thereby facilitating transcription (PubMed:30867594).
messages: Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes (PubMed:29211711). It gives a specific tag for epigenetic transcription activation (PubMed:29211711). Desuccinylation at Lys-123 (H3K122succ) by SIRT7 in response to DNA damage promotes chromatin condensation and double-strand breaks (DSBs) repair (PubMed:27436229).
messages: The gene represented in this entry is involved in disease pathogenesis. HIST1H3B mutations affecting residue Lys-28 involved in post-translational modifications of histone H3.1 are recurrent in malignant, aggressive gliomas including pediatric non-brain stem glioblastoma and diffuse intrinsic pontine glioma (DIPG) (PubMed:22286216). The mechanism through which mutations lead to tumorigenesis involves altered histone methylation, impaired regulation of Polycomb repressive complex 2 (PRC2) activity, and aberrant epigenetic regulation of gene expression (PubMed:23603901).
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. Interacts with TONSL; CHAF1A; CHAF1B; MCM2 and DNAJC9 (PubMed:33857403).
messages: The original paper reporting lysine deamination at Lys-5 by LOXL2 has been retracted due to inappropriate manipulation of figure data (PubMed:22483618, PubMed:27392148). However, this modification was confirmed in a subsequent publication (PubMed:27735137).
messages: This histone is only present in mammals and is enriched in acetylation of Lys-15 and dimethylation of Lys-10 (H3K9me2).

9606:ATG7
gene id: 9606:ATG7
uniprot id: B3KQM6
uniprot id: O95352
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated by EP300.
messages: Belongs to the ATG7 family.
messages: Cytoplasm
messages: E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Facilitates LC3-I lipidation with phosphatidylethanolamine to form LC3-II which is found on autophagosomal membranes (PubMed:34161705). Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Modulates p53/TP53 activity to regulate cell cycle and survival during metabolic stress. Also plays a key role in the maintenance of axonal homeostasis, the prevention of axonal degeneration, the maintenance of hematopoietic stem cells, the formation of Paneth cell granules, as well as in adipose differentiation. Plays a role in regulating the liver clock and glucose metabolism by mediating the autophagic degradation of CRY1 (clock repressor) in a time-dependent manner (By similarity).
messages: E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Modulates p53/TP53 activity to regulate cell cycle and survival during metabolic stress.
messages: Expression is up-regulated by the transcription factor HSF1.
messages: Homodimer (PubMed:11096062). Interacts with ATG3 and ATG12 (PubMed:11096062, PubMed:11825910). The complex, composed of ATG3 and ATG7, plays a role in the conjugation of ATG12 to ATG5 (PubMed:11825910). Forms intermediate conjugates with ATG8-like proteins such as GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A (PubMed:11096062, PubMed:16303767). Interacts with EP300 acetyltransferase (PubMed:19124466). Interacts with FOXO1 (PubMed:20543840).
messages: Homodimer.
messages: Preautophagosomal structure
messages: The C-terminal part of the protein is essential for the dimerization and interaction with ATG3 and ATG12.
messages: The N-terminal FAP motif (residues 15 to 17) is essential for the formation of the ATG89-PE and ATG5-ATG12 conjugates.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed, especially in kidney, liver, lymph nodes and bone marrow.

9606:A4GALT
gene id: 9606:A4GALT
uniprot id: A0A0S2Z5J1
uniprot id: Q9NPC4
names: Domain
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: (Microbial infection) Globotriaosylceramide is one of the cellular ligands for bacterial verotoxins.
messages: Belongs to the glycosyltransferase 32 family.
messages: Catalyzes the transfer of galactose from UDP-alpha-D-galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143). Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Cer in blood and tissue cell membranes is the antigen Pk of blood histogroup P (PubMed:10747952).
messages: Genetic variation in A4GALT is responsible for the P1PK system blood group phenotypes [MIM:111400]. Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and p. Genetic variation in A4GALT determines the p phenotype, which is rare and does not express any antigens. It is also known as null phenotype; p individuals have antibodies against P, P1 and Pk antigens in their sera. These antibodies are clinically important because they can cause severe transfusion reactions and miscarriage (PubMed:10993874, PubMed:11896312). Genetic variation in A4GALT is also responsible for the NOR polyagglutination syndrome [MIM:111400]. Polyagglutination is the occurrence of red cell agglutination by virtually all human sera, but not by autologous serum or sera from newborns, creating a risk of complications during transfusions of NOR erythrocytes. It is caused by the unusual Gal(alpha1-4)GalNAc glycolipid epitope (PubMed:22965229).
messages: Golgi apparatus membrane
messages: The conserved DXD motif is involved in enzyme activity.
messages: Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta.

9606:F11
gene id: 9606:F11
uniprot id: P03951
names: Activity Regulation
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by factor XIIa (or XII), which cleaves each polypeptide after Arg-387 into the light chain, which contains the active site, and the heavy chain, which associates with high molecular weight (HMW) kininogen.
messages: Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
messages: Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.
messages: Homodimer; disulfide-linked. Forms a heterodimer with SERPINA5. After activation the heavy and light chains are also linked by a disulfide bond.
messages: Inhibited by SERPINA5.
messages: Isoform 2 is produced by platelets and megakaryocytes but absent from other blood cells.
messages: N-glycosylated on both chains. N-glycosylated sites mainly consist of nonfucosylated sialylated biantennary (in high abundance) and/or triantennary (in low abundance) complex structures. Glycosylation at Asn-163 uses a rare non-canonical Asn-X-Cys glycosite.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:C1QTNF3
gene id: 9606:C1QTNF3
uniprot id: Q9BXJ4
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in colon and small intestine.
messages: Glycosylated on Asn-70.
messages: Secreted

9606:L3MBTL4
gene id: 9606:L3MBTL4
uniprot id: F8W9S8
uniprot id: Q8NA19
names: Function
names: Subcellular Location Annotation
messages: Nucleus
messages: Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity).

9606:TYW1
gene id: 9606:TYW1
uniprot id: Q9NV66
names: Cofactor
names: Function
names: Similarity
messages: Belongs to the TYW1 family.
messages: Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine.
messages: Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity).

9606:FOXI3
gene id: 9606:FOXI3
uniprot id: A8MTJ6
names: Function
names: Subcellular Location Annotation
messages: Nucleus
messages: Possible transcriptional factor.

9606:PPP1R3E
gene id: 9606:PPP1R3E
uniprot id: Q9H7J1
names: Domain
names: Function
names: Tissue Specificity
messages: Acts as a glycogen-targeting subunit for PP1. PP1 is involved in glycogen metabolism and contributes to the activation of glycogen synthase leading to an increase in glycogen synthesis.
messages: Expressed in skeletal muscle and heart with barely detectable levels in liver.
messages: The CBM21 domain is known to be involved in the localization to glycogen and is characteristic of some regulatory subunit of phosphatase complexes.

9606:TNFSF12-TNFSF13
gene id: 9606:TNFSF12-TNFSF13
uniprot id: A0A0A6YY99
uniprot id: O43508
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Based on a readthrough transcript which may produce a TWE-PRIL (TNFSF12-TNFSF13) fusion protein. Expressed at protein level in primary T-lymphocytes and monocytic cell lines.
messages: Belongs to the tumor necrosis factor family.
messages: Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion.
messages: Cell membrane
messages: Highly expressed in adult heart, pancreas, skeletal muscle, brain, colon, small intestine, lung, ovary, prostate, spleen, lymph node, appendix and peripheral blood lymphocytes. Low expression in kidney, testis, liver, placenta, thymus and bone marrow. Also detected in fetal kidney, liver, lung and brain.
messages: Homotrimer (Probable). Interacts with the angiogenic factor AGGF1/VG5Q.
messages: Secreted
messages: The soluble form derives from the membrane form by proteolytic processing.

9606:SLC30A4
gene id: 9606:SLC30A4
uniprot id: O14863
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
messages: Endosome membrane
messages: Homodimer; dityrosine-linked. Homodimerization could be specific of the human protein and enhances the zinc transport efficiency.
messages: Homodimerization through dityrosine bonds is stimulated by oxidative stress.
messages: Late endosome membrane
messages: Lysosome membrane
messages: Probable proton-coupled zinc ion antiporter mediating zinc import from cytoplasm potentially into the endocytic compartment (PubMed:19521526). Controls zinc deposition in milk (By similarity).

9606:ANKLE2
gene id: 9606:ANKLE2
uniprot id: Q86XL3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) May interact with non-structural protein 4A/NS4A from Zika virus strains Mr-766 or French Polynesia 10087PF/2013; the interaction may inhibit ANKLE2 function and contribute to defects in brain development, such as microcephaly.
messages: Belongs to the ANKLE2 family.
messages: Endoplasmic reticulum membrane
messages: Interacts with BAF/BANF1. Interacts with protein phosphatase 2A (PP2A) components PPP2C (PPP2CA or PPP2CB) and PPP2R1A.
messages: Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit (PubMed:22770216). Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly (PubMed:22770216). May regulate nuclear localization of VRK1 in non-dividing cells (PubMed:31735666). It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex (PubMed:22770216). Involved in brain development (PubMed:25259927).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZFYVE9
gene id: 9606:ZFYVE9
uniprot id: O95405
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization.
messages: Early endosome membrane
messages: Interacts (via the SBD region) with SMAD2; the interaction recruits SMAD2 to the TGF-beta receptor and is disrupted by phosphorylation of SMAD2 upon TGF-beta receptor activation. Interacts with SMAD3. Interacts with TGFBR1 and TGFBR2; the interaction recruits SMAD2 to the TGF-beta receptor. Interacts with PML.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: The FYVE-type zinc finger is necessary and sufficient for its localization into early endosomes and mediates the association with PI3P.
messages: The SMAD binding domain (SBD) interacts with the MH2 domains of SMAD2 or SMAD3.
messages: Ubiquitous. In the brain found primarily in the cerebrovascular smooth muscle cells and reactive astrocytes.

9606:OR2D2
gene id: 9606:OR2D2
uniprot id: A0A126GVN9
uniprot id: Q9H210
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:NPIPB13
gene id: 9606:NPIPB13
uniprot id: A6NJU9
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the NPIP family.
messages: Membrane

9606:SLC2A10
gene id: 9606:SLC2A10
uniprot id: O95528
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
messages: Endomembrane system
messages: Facilitative glucose transporter required for the development of the cardiovascular system.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed; highest levels in liver and pancreas.
messages: perinuclear region

9606:HTR1A
gene id: 9606:HTR1A
uniprot id: A8K5W4
uniprot id: P08908
uniprot id: Q5ZGX3
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Belongs to the G-protein coupled receptor 1 family. 5-hydroxytryptamine receptor subfamily. HTR1A sub-subfamily.
messages: Cell membrane
messages: Detected in lymph nodes, thymus and spleen. Detected in activated T-cells, but not in resting T-cells.
messages: G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second messenger system that regulates the release of Ca(2+) ions from intracellular stores. Plays a role in the regulation of 5-hydroxytryptamine release and in the regulation of dopamine and 5-hydroxytryptamine metabolism. Plays a role in the regulation of dopamine and 5-hydroxytryptamine levels in the brain, and thereby affects neural activity, mood and behavior. Plays a role in the response to anxiogenic stimuli.
messages: Heterodimer; heterodimerizes with GPER1. Interacts with YIF1B (By similarity).
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: dendrite

9606:CHMP6
gene id: 9606:CHMP6
uniprot id: Q96FZ7
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SNF7 family.
messages: Endomembrane system
messages: Endosome membrane
messages: ISGylated in a CHMP5-dependent manner. Isgylation weakens its interaction with VPS4A.
messages: Late endosome membrane
messages: Membrane
messages: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. In the ESCRT-III complex, it probably serves as an acceptor for the ESCRT-II complex on endosomal membranes.
messages: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with CHMP4A, CHMP4B and CHMP4C. Interacts with SNF8, VPS25 and VPS36.
messages: The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components.
messages: Ubiquitously expressed.

9606:ZMYM4
gene id: 9606:ZMYM4
uniprot id: Q5VZL5
names: Function
names: Miscellaneous
names: Tissue Specificity
messages: Expressed at higher level in heart, skeletal muscle, kidney and liver.
messages: Plays a role in the regulation of cell morphology and cytoskeletal organization.
messages: The 3'-UTR region of the mRNA encoding this protein contains a motif called CDIR (for cell death inhibiting RNA) that binds HNRPD/AUF1 and HSPB1/HSP27. It is able to inhibit interferon-gamma induced apoptosis.

9606:OMP
gene id: 9606:OMP
uniprot id: P47874
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the olfactory marker protein family.
messages: Cytoplasm
messages: Interacts with BEX1 and BEX2.
messages: May act as a modulator of the olfactory signal-transduction cascade.
messages: Uniquely associated with mature olfactory receptor neurons.

9606:SYBU
gene id: 9606:SYBU
uniprot id: B7Z4D2
uniprot id: Q9NX95
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasmic vesicle
messages: Golgi apparatus membrane
messages: Interacts with STX1A and KIF5B.
messages: Isoform 3, isoform 4 and isoform 5 are expressed in HeLa cell line (at protein level). Isoform 3 is expressed in fetal and adult brain. Isoform 4 is expressed in numerous fetal tissues (brain, kidney, liver, lung, and thymus) and in adult brain, kidney, liver, lung, pancreas, colon, prostate, small intestine, testis and thymus. Isoform 5 is expressed in fetal brain, brain and small intestine.
messages: Membrane
messages: Part of a kinesin motor-adapter complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development.
messages: cytoskeleton

9606:PACS1
gene id: 9606:PACS1
uniprot id: A0A024R5H6
uniprot id: Q6VY07
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with Epstein-barr virus protein BBLF1.
messages: (Microbial infection) Interacts with HIV-1 Nef.
messages: Associates with AP-1 and AP-3 but not with AP-2 complexes (PubMed:11331585). Interacts with FURIN (By similarity). Forms a ternary complex with FURIN and AP-1 (PubMed:11331585). Interacts with NPHP1; the interaction is dependent of NPHP1 phosphorylation by CK2 (PubMed:16308564). Interacts with PKD2 (via acidic region) (PubMed:15692563). Interacts with SORL1 (PubMed:17855360, PubMed:17646382).
messages: Belongs to the PACS family.
messages: Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: trans-Golgi network

9606:GLIPR2
gene id: 9606:GLIPR2
uniprot id: Q9H4G4
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CRISP family.
messages: Golgi apparatus membrane
messages: Highest expression in lung and peripheral leukocytes, and minor expression in liver and kidney.
messages: Homodimer. Interacts with CAV1.

9606:C2orf88
gene id: 9606:C2orf88
uniprot id: Q9BSF0
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small membrane AKAP family.
messages: Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma membrane.
messages: Cell membrane
messages: Expressed in heart (at protein level).
messages: Interacts with PRKAR1A and PRKAR1B.
messages: May be palmitoylated at Cys-3.

9606:SYNGR3
gene id: 9606:SYNGR3
uniprot id: O43761
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the synaptogyrin family.
messages: Expressed in brain and placenta.
messages: Interacts (via N-terminus) with SLC6A3 (via N-terminus). May interact with VMAT2.
messages: May play a role in regulated exocytosis. May indirectly regulate the activity of the plasma membrane dopamine transporter SLC6A3 and thereby regulate dopamine transport back from the synaptic cleft into the presynaptic terminal.
messages: Synapse
messages: synaptic vesicle membrane

9606:ELAVL2
gene id: 9606:ELAVL2
uniprot id: A0A0A0MRX1
uniprot id: Q12926
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the RRM elav family.
messages: Brain; neural-specific.
messages: Interacts with IGF2BP1 (PubMed:17289661). Interacts with MAP1B light chain LC1 (By similarity).
messages: RNA-binding protein that binds to the 3' untranslated region (3'UTR) of target mRNAs (By similarity). Seems to recognize a GAAA motif (By similarity). Can bind to its own 3'UTR, the FOS 3'UTR and the ID 3'UTR (By similarity).

9606:CLPTM1L
gene id: 9606:CLPTM1L
uniprot id: Q96KA5
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CLPTM1 family.
messages: Endoplasmic reticulum membrane
messages: Scramblase that mediates the translocation of glucosaminylphosphatidylinositol (alpha-D-GlcN-(1-6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to the luminal leaflet of the ER membrane, where it participates in the biosynthesis of glycosylphosphatidylinositol (GPI) (PubMed:35344438). GPI is a lipid glycoconjugate involved in post-translational modification of proteins (PubMed:35344438). Can also translocate 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) (phosphatidylinositol or PI), as well as several other phospholipids (1,2-diacyl-sn-glycero-3-phosphocholine, 1,2-diacyl-sn-glycero-3-phosphoethanolamine), and N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI) in vitro (PubMed:35344438).
messages: Ubiquitously expressed.
messages: Up-regulated by cisplatin.

9606:EBF3
gene id: 9606:EBF3
uniprot id: Q9H4W6
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the COE family.
messages: Expressed in brain.
messages: Forms either a homodimer or a heterodimer with a related family member.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional activator (PubMed:28017373, PubMed:28017372, PubMed:28017370). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity).

9606:GNB2
gene id: 9606:GNB2
uniprot id: P62879
uniprot id: Q6FHM2
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the WD repeat G protein beta family.
messages: Cell membrane
messages: Expressed in all cardiac subcompartments and in the brain, with highest levels in the atrioventricular node and brain.
messages: G proteins are composed of 3 units, alpha, beta and gamma. In this context, interacts with GNAI2 and GNG2 (PubMed:28219978). Interacts with ARHGEF18 and RASD2. Interacts with ATXN10. Interacts with SCN8A (PubMed:26900580).
messages: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: perinuclear region

9606:PRRT4
gene id: 9606:PRRT4
uniprot id: C9JH25
names: Subcellular Location Annotation
messages: Membrane

9606:CLCA1
gene id: 9606:CLCA1
uniprot id: A8K7I4
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CLCR family.
messages: By IL13/interleukin-13 in tracheobronchial epithelial cells. Up-regulated by histamine in a dose-dependent manner. Significantly down-regulated in colorectal cancer. Significantly up-regulated in the IL9-responsive mucus-producing epithelium of asthmatic patients. Significantly decreased in nasal polyp. Significantly increased by TNF in upper airway mucosa.
messages: Cell membrane
messages: Glycosylated.
messages: Highly expressed in small intestine and colon namely in intestinal basal crypt epithelia and goblet cells, and appendix. Weakly expressed in uterus, testis and kidney. Expressed in the airways epithelium of both asthmatic and healthy patients. Expressed in the bronchial epithelium, especially in mucus-producing goblet cells. Expressed in normal turbinate mucosa and nasal polyp. Expressed in.
messages: May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC.
messages: The 125-kDa product is autoproteolytically processed by the metalloprotease domain and yields to two cell-surface-associated subunits, a 90-kDa protein and a group of 37- to 41-kDa proteins. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity.
messages: The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA substrates.
messages: extracellular space

9606:PANK1
gene id: 9606:PANK1
uniprot id: Q8TE04
names: Activity Regulation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the type II pantothenate kinase family.
messages: Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.
messages: Cytoplasm
messages: Detected at much lower levels in kidney, liver, brain and testis and not detected in heart or skeletal muscle.
messages: Expressed at high levels in brain, heart, kidney, liver, skeletal muscle and testis.
messages: Homodimer.
messages: Induced by bezafibrate, a hypolipidemic drug which acts as an agonist of peroxisome proliferator activator receptor alpha (PPARA), while isoform 2 levels decrease slightly.
messages: Nucleus
messages: Recycling endosome
messages: Regulated by feedback inhibition by CoA and its thioesters.
messages: The N-terminal extension, may be the regulatory domain.
messages: clathrin-coated vesicle
messages: cytosol
messages: nucleolus

9606:MAPK8IP1
gene id: 9606:MAPK8IP1
uniprot id: Q9UQF2
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chemically synthesized cell-permeable peptide of the minimal inhibitory domain decreases brain lesions in both transient and permanent ischemia. The level of protection is still high when administered 6 or 12 hours after ischemia.
messages: A minimal inhibitory domain prevents pancreatic beta cell apoptosis in vitro, and prevents activation of c-jun by MAPK8, MAPK9 and MAPK10.
messages: Belongs to the JIP scaffold family.
messages: Cytoplasm
messages: Endoplasmic reticulum membrane
messages: Forms homo- or heterooligomeric complexes. Binds specific components of the JNK signaling pathway namely, MAPK8/JNK1, MAPK9/JNK2, MAPK10/JNK3, MAP2K7/MKK7, MAP3K11/MLK3 and DLK1. Also binds the proline-rich domain-containing splice variant of apolipoprotein E receptor 2 (ApoER2). Interacts, via the PID domain, with ARHGEF28. Binds the cytoplasmic tails of LRP1 and LRP2 (Megalin). Binds the TPR motif-containing C-terminal of KNS2, then the pre-assembled MAPK8IP1 scaffolding complexes are transported as a cargo of kinesin, to the required subcellular location. Interacts with the cytoplasmic domain of APP. Interacts with DCLK2 (By similarity). Interacts with MAP3K7/TAK1. Interacts with isoform 1 and isoform 2 of VRK2. Found in a complex with SH3RF1, RAC1, MAP3K11/MLK3, MAP2K7/MKK7 and MAPK8/JNK1. Found in a complex with SH3RF1, RAC2, MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and MAPK9/JNK2. Interacts with SH3RF2 (By similarity).
messages: Highly expressed in brain. Expressed in neurons, localizing to neurite tips in differentiating cells. Also expressed in the pancreas, testis and prostate. Low levels in heart, ovary and small intestine. Decreased levels in pancreatic beta cells sensitize cells to IL-1-beta-induced apoptosis.
messages: Mitochondrion membrane
messages: Nucleus
messages: Phosphorylated by MAPK8, MAPK9 and MAPK10. Phosphorylation on Thr-103 is also necessary for the dissociation and activation of MAP3K12. Phosphorylated by isoform 1 and isoform 2 of VRK2. Hyperphosphorylated during mitosis following activation of stress-activated and MAP kinases.
messages: The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK-regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins. Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response. Acts as a scaffold protein that coordinates with SH3RF1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the activation of MAPK8/JNK1 and differentiation of CD8(+) T-cells.
messages: The SH3 domain mediates homodimerization.
messages: The destruction boxes (D-box) may act as recognition signals for degradation via the ubiquitin-proteasome pathway.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated. Two preliminary events are required to prime for ubiquitination; phosphorylation and an increased in intracellular calcium concentration. Then, the calcium influx initiates ubiquitination and degradation by the ubiquitin-proteasome pathway.
messages: perinuclear region

9606:TIRAP
gene id: 9606:TIRAP
uniprot id: A0A024R3M4
uniprot id: P58753
names: Function
names: PTM
names: Polymorphism
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) In case of infection, interacts with Brucella protein BtpA.
messages: Adapter involved in TLR2 and TLR4 signaling pathways in the innate immune response. Acts via IRAK2 and TRAF-6, leading to the activation of NF-kappa-B, MAPK1, MAPK3 and JNK, and resulting in cytokine secretion and the inflammatory response. Positively regulates the production of TNF-alpha (TNF) and interleukin-6 (IL6).
messages: Adapter involved in the TLR2 and TLR4 signaling pathways in the innate immune response.
messages: Cell membrane
messages: Cytoplasm
messages: Genetic variations in TIRAP have been proposed to influence susceptibility or resistance to invasive pneumococcal disease, malaria [MIM:611162], and tuberculosis [MIM:607948]. It may define the bacteremia susceptibility locus 1 (BACTS1) [MIM:614382] (PubMed:17322885, PubMed:19602285). Indeed it has been reported that heterozygous carriage of p.Ser180Leu in populations from the U.K., Vietnam, and several African countries may confer protection against invasive pneumococcal disease, bacteremia, malaria, and tuberculosis (PubMed:17322885). However, analyzes of Russian, Ghanaian and Indonesian populations fail to replicate the association between p.Ser180Leu and susceptibility to tuberculosis formerly observed in West African and Algerian populations (PubMed:17322885, PubMed:18305471).
messages: Highly expressed in liver, kidney, spleen, skeletal muscle and heart. Also detected in peripheral blood leukocytes, lung, placenta, small intestine, thymus, colon and brain.
messages: Homodimer (PubMed:17322885). Also forms heterodimers with MYD88 (PubMed:17322885). May interact with PIK3AP1 (By similarity). Interacts with TLR4 and IRAK2 via their respective TIR domains. Interacts with BMX and TBK1. Interacts with EIF2AK2. Does not interact with IRAK1, nor TLR9. Interacts with TLR2 (PubMed:17322885).
messages: Homodimer.
messages: Membrane
messages: Phosphorylated by IRAK1 and IRAK4. Also phosphorylated by BTK.
messages: Polyubiquitinated. Polyubiquitination follows phosphorylation by BTK and leads to TIRAP degradation.

9606:TNRC6B
gene id: 9606:TNRC6B
uniprot id: A0A024R1N5
uniprot id: Q9UPQ9
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GW182 family.
messages: Interacts with AGO1, AGO2, AGO3 and AGO4 (PubMed:16289642, PubMed:18690212, PubMed:19167051, PubMed:19304925, PubMed:19383768). Interacts with CNOT1; the interaction mediates the association with the CCR4-NOT complex (PubMed:21981923, PubMed:21984185). Interacts with PAN3; the interaction mediates the association with the PAN complex (PubMed:21981923). Interacts with MOV10; the interaction is direct and RNA-dependent (PubMed:24726324).
messages: P-body
messages: Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs) (PubMed:16289642, PubMed:19167051, PubMed:19304925, PubMed:32354837). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins (PubMed:16289642, PubMed:19167051, PubMed:19304925, PubMed:32354837). As scaffolding protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes (PubMed:21981923).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:RTP4
gene id: 9606:RTP4
uniprot id: Q96DX8
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TMEM7 family.
messages: By interferons.
messages: Expressed in circumvallate papillae and testis.
messages: Interacts with TASR16 (PubMed:16720576). Interacts with OPRD1 and OPRM1; the interaction promotes cell surface localization of the OPDR1-OPRM1 heterodimer (By similarity).
messages: Membrane
messages: Probable chaperone protein which facilitates trafficking and functional cell surface expression of some G-protein coupled receptors (GPCRs). Promotes functional expression of the bitter taste receptor TAS2R16 (PubMed:16720576). Also promotes functional expression of the opioid receptor heterodimer OPRD1-OPRM1 (By similarity).

9606:CHAD
gene id: 9606:CHAD
uniprot id: O15335
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily.
messages: Mostly monomeric (By similarity). Interacts with collagen type II.
messages: Present in chondrocytes at all ages.
messages: Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity).
messages: extracellular matrix

9606:CNKSR1
gene id: 9606:CNKSR1
uniprot id: Q53GM7
uniprot id: Q969H4
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CNKSR family.
messages: Cytoplasm
messages: Interacts with RHO and RALGDS.
messages: May function as an adapter protein or regulator of Ras signaling pathways.
messages: Membrane
messages: Phosphorylated on tyrosine.

9606:RC3H2
gene id: 9606:RC3H2
uniprot id: A0A024R899
uniprot id: Q9HBD1
names: Activity Regulation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binding to dsRNA, but not CDE RNA, crosstalks with the E3 ubiquitin ligase activity and may inhibit ubiquitination.
messages: Expressed in spleen, testis, ovary and small intestine.
messages: HEPN (higher eukaryotes and prokaryotes nucleotide-binding) are observed in both N- and C-terminal sides of ROQ domain with 3D structure even if they are poredcted on the basis of sequence.
messages: Interacts with EDC4. Interacts with CCR4-NOT deadenylase complex (By similarity). Interacts with MAP3K5; the interaction is probably stimulus-dependent (PubMed:24448648).
messages: P-body
messages: Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression. Also recognizes CDE in its own mRNA and in that of paralogous RC3H1, possibly leading to feedback loop regulation (By similarity). miRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2B, UBE2D2, UBE2E2, UBE2E3, UBE2G2, UBE2K and UBE2Q2 and produces polyubiquitin chains (PubMed:26489670). Shows the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670). Involved in the ubiquitination of MAP3K5 (PubMed:24448648, PubMed:26489670, PubMed:29186683). Able to interact with double-stranded RNA (dsRNA) (PubMed:26489670).
messages: Proteolytically cleaved after Arg-509 and Arg-585 by MALT1 in activated CD4(+) T cells; cleavage at Arg-509 and Arg-585 is critical for promoting RC3H1 degradation in response to T-cell receptor (TCR) stimulation, and hence is necessary for prolonging the stability of a set of mRNAs controlling Th17 cell differentiation.
messages: The RING-type zinc finger is required for proper localization to stress granules, but not to P-bodies.
messages: The ROQ region is required for CDE RNA-binding. Has 2 separate RNA-binding sites, one for CDE RNA and the other for dsRNA (PubMed:26249698). It may also be involved in localization to stress granules (By similarity).

9606:DEDD2
gene id: 9606:DEDD2
uniprot id: Q8WXF8
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in most tissues. High levels were found in liver, kidney, heart, ovary, spleen, testes, skeletal muscle and peripheral blood leukocytes. Expression was absent or low in colon and small intestine. Expression is relatively high in the tumor cell lines chronic myologenous leukemia K-562 and the colorectal adenocarcinoma SW480. Expression is moderate in the cervical carcinoma HeLa, the Burkitt's lymphoma Raji, the lung carcinoma A-549, and the melanoma G-361. In contrast, two leukemia cell lines, HL-60 (promyelocytic leukemia) and MOLT-4 (lymphoblastic leukemia), show relatively low levels.
messages: Interactions with CASP8 and CASP10 are mediated by the DED domain.
messages: Interacts with CASP8, CASP10 and GTF3C3. Homodimerizes and heterodimerizes with DEDD.
messages: May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3.
messages: nucleolus

9606:GOLGA6L6
gene id: 9606:GOLGA6L6
uniprot id: A8MZA4
names: Similarity
messages: Belongs to the GOLGA6 family.

9606:ALG8
gene id: 9606:ALG8
uniprot id: A0A024R5K5
uniprot id: E9PR58
uniprot id: Q9BVK2
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol before it is transferred to the nascent peptide (By similarity). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity).
messages: Belongs to the ALG6/ALG8 glucosyltransferase family.
messages: Endoplasmic reticulum membrane
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:EXD1
gene id: 9606:EXD1
uniprot id: Q8NHP7
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the EXD1 family.
messages: Cytoplasm
messages: Homodimer (By similarity). Component of the PET complex, at least composed of EXD1, PIWIL2, TDRD12 and piRNAs (By similarity).
messages: RNA-binding component of the PET complex, a multiprotein complex required for the processing of piRNAs during spermatogenesis. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposable elements, preventing their mobilization, which is essential for the germline integrity (By similarity). The PET complex is required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs. In the PET complex, EXD1 probably acts as an RNA adapter. EXD1 is an inactive exonuclease (By similarity).
messages: The 3'-5' exonuclease domain lacks the conserved Asp-Glu-Asp-Asp (DEDD) residues that coordinates divalent ions essential for exonuclease activity.

9606:SERPINB7
gene id: 9606:SERPINB7
uniprot id: A8K3Q8
uniprot id: O75635
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the serpin family.
messages: Belongs to the serpin family. Ov-serpin subfamily.
messages: Cytoplasm
messages: Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.
messages: Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MGAT5B
gene id: 9606:MGAT5B
uniprot id: Q3V5L5
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 18 family.
messages: Chimeric sequence.
messages: Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway.
messages: Golgi apparatus membrane
messages: Predominantly expressed in brain. Expressed in all areas of the adult and fetal brain. Also expressed at much lower levels in testis, spleen and thymus.
messages: Probable cloning artifact.

9606:RBM27
gene id: 9606:RBM27
uniprot id: Q9P2N5
names: Domain
names: Subcellular Location Annotation
messages: Cytoplasm
messages: Nucleus speckle
messages: The RRM domain mediates integration into cytospeckles.

9606:COLEC11
gene id: 9606:COLEC11
uniprot id: Q9BWP8
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the COLEC10/COLEC11 family.
messages: Homotrimer; disulfide-linked (PubMed:20956340, PubMed:25912189). Interacts with MASP1; probably triggers the lectin pathway of complement (PubMed:20956340).
messages: Lectin that plays a role in innate immunity, apoptosis and embryogenesis (PubMed:23954398, PubMed:25912189, PubMed:21258343). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at least one terminal alpha-1,2-linked mannose epitope (PubMed:25912189). Primarily recognizes the terminal disaccharide of the glycan (PubMed:25912189). Also recognizes a subset of fucosylated glycans and lipopolysaccharides (PubMed:17179669, PubMed:25912189). Plays a role in innate immunity through its ability to bind non-self sugars presented by microorganisms and to activate the complement through the recruitment of MAPS1 (PubMed:20956340, PubMed:25912189). Also plays a role in apoptosis through its ability to bind in a calcium-independent manner the DNA present at the surface of apoptotic cells and to activate the complement in response to this binding (Probable). Finally, plays a role in development, probably serving as a guidance cue during the migration of neural crest cells and other cell types during embryogenesis (PubMed:21258343, PubMed:28301481).
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous (PubMed:17179669). Detected in adrenal gland, kidney, liver, ovaries and testis (at protein level) (PubMed:20956340).

9606:NOP16
gene id: 9606:NOP16
uniprot id: A0A0C4DGU5
uniprot id: Q9Y3C1
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the NOP16 family.
messages: nucleolus

9606:ZNF559
gene id: 9606:ZNF559
uniprot id: Q9BR84
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:RAB19
gene id: 9606:RAB19
uniprot id: A4D1S5
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Cell membrane

9606:CYP39A1
gene id: 9606:CYP39A1
uniprot id: A0A087WTD2
uniprot id: B7Z786
uniprot id: Q9NYL5
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: A cytochrome P450 monooxygenase involved in neural cholesterol clearance through bile acid synthesis (PubMed:25201972, PubMed:10748047). Catalyzes 7-alpha hydroxylation of (24S)-hydroxycholesterol, a neural oxysterol that is metabolized to bile acids in the liver (PubMed:25201972, PubMed:10748047). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25201972, PubMed:10748047).
messages: Belongs to the cytochrome P450 family.
messages: Endoplasmic reticulum membrane
messages: Liver specific.
messages: Microsome membrane
messages: Variations in CYP39A1 are associated with elevated serum (24S)-hydroxycholesterol levels among a cohort of American residents.

9606:RPS27L
gene id: 9606:RPS27L
uniprot id: Q71UM5
names: Cofactor
names: Similarity
messages: Belongs to the eukaryotic ribosomal protein eS27 family.
messages: Binds 1 zinc ion per subunit.

9606:RIN3
gene id: 9606:RIN3
uniprot id: Q6NSK7
uniprot id: Q6ZRC2
uniprot id: Q8TB24
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant splicing.
messages: Belongs to the RIN (Ras interaction/interference) family.
messages: Cytoplasm
messages: Cytoplasmic vesicle
messages: Early endosome
messages: Interacts with CD2AP, RAB5B, RAB31 and BIN1.
messages: Intron retention.
messages: Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function.
messages: Widely expressed.

9606:URB1
gene id: 9606:URB1
uniprot id: O60287
names: Subcellular Location Annotation
messages: nucleolus

9606:SPATA9
gene id: 9606:SPATA9
uniprot id: Q9BWV2
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Highly expressed in testes and pancreas. Low levels found in the heart, lungs, and brain. Very low expression detected in the placenta. No expression seen in skeletal muscle, liver, kidney, thymus, small intestine, colons, spleen, leukocytes, prostate gland, and ovary. In the adult testes, expression was about 6.44-fold higher than in the embryo testes. No expression in testes of patients with Sertoli-cell-only syndrome. In patients with arrest at spermatogonium and primary spermatocyte stages, no expression was detected. In patients with arrest at the spermatid stage, expression level was weak or absent. Variable expression was seen in patients with spermatogenic arrest.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: May play a role in testicular development/spermatogenesis and may be an important factor in male infertility.
messages: Membrane

9606:MAEL
gene id: 9606:MAEL
uniprot id: A0A140VJP0
uniprot id: E9JVC4
uniprot id: Q96JY0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the maelstrom family.
messages: Cytoplasm
messages: Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2 (By similarity). Interacts with TEX19 (By similarity).
messages: Nucleus
messages: Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage (By similarity).
messages: Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage.
messages: Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its promoter.

9606:ADAD1
gene id: 9606:ADAD1
uniprot id: Q96M93
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ADAD family.
messages: Nucleus
messages: Required for male fertility and normal male germ cell differentiation (By similarity). Plays a role in spermatogenesis (By similarity). Binds to RNA but not to DNA (By similarity).

9606:OR13C4
gene id: 9606:OR13C4
uniprot id: A0A126GVC9
uniprot id: Q8NGS5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:PXDN
gene id: 9606:PXDN
uniprot id: Q92626
names: Activity Regulation
names: Cofactor
names: Developmental Stage
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peroxidase family. XPO subfamily.
messages: Binds 1 Ca(2+) ion per subunit.
messages: Binds 1 heme b (iron(II)-protoporphyrin IX) group covalently per subunit.
messages: By TGFB1 in fibroblasts and up-regulated in apoptotic cells.
messages: Catalyzes the two-electron oxidation of bromide by hydrogen peroxide and generates hypobromite as a reactive intermediate which mediates the formation of sulfilimine cross-links between methionine and hydroxylysine residues within an uncross-linked collagen IV/COL4A1 NC1 hexamer (PubMed:18929642, PubMed:22842973, PubMed:27697841, PubMed:28154175, PubMed:19590037, PubMed:25708780, PubMed:25713063, PubMed:34679700). In turns, directly contributes to the collagen IV network-dependent fibronectin/FN and laminin assembly, which is required for full extracellular matrix (ECM)-mediated signaling (PubMed:32543734, PubMed:34679700, PubMed:19590037). Thus, sulfilimine cross-links are essential for growth factor-induced cell proliferation and survival in endothelial cells, an event essential to basement membrane integrity (PubMed:32543734). In addition, through the bromide oxidation, may promote tubulogenesis and induce angiogenesis through ERK1/2, Akt, and FAK pathways (PubMed:25713063). Moreover brominates alpha2 collagen IV chain/COL4A2 at 'Tyr-1485' and leads to bromine enrichment of the basement membranes (PubMed:32571911). In vitro, can also catalyze the two-electron oxidation of thiocyanate and iodide and these two substrates could effectively compete with bromide and thus inhibit the formation of sulfilimine bonds (PubMed:28154175). Binds laminins (PubMed:32485152). May play a role in the organization of eyeball structure and lens development during eye development (By similarity).
messages: Cell surface
messages: Endoplasmic reticulum
messages: Expressed at higher levels in heart, lung, ovary, spleen, intestine and placenta, and at lower levels in liver, colon, pancreas, kidney, thymus, skeletal muscle and prostate. Expressed in tumors such as melanoma, breast cancer, ovarian cancer and glioblastoma. A shorter form probably lacking the signal sequence is found in testis and in EB1 cells undergoing p53/TP53-dependent apoptosis.
messages: Expressed in fetal liver and spleen.
messages: Glycosylated (PubMed:25713063). Four sites are completely N-glycosylated (Asn-640, Asn-731, Asn-865 and Asn-1425), whereas the others are found partially glycosylated (PubMed:25713063).
messages: Homotrimer; disulfide-linked (PubMed:25708780, PubMed:25713063, PubMed:29982533, PubMed:31295557, PubMed:32543734). The homotrimer form is predominant (PubMed:25708780). Homooligomer; disulfide-linked (PubMed:22842973, PubMed:25708780, PubMed:25713063, PubMed:29982533, PubMed:31295557). Oligomerization occurs intracellularly before C-terminal proteolytic cleavage (PubMed:31295557). Interacts with PXDNL; this interaction inhibits the peroxidase activity of PXDN (PubMed:24253521).
messages: Processed by FURIN and the proteolytic processing largely depends on the peroxidase activity of PXDN (PubMed:27697841, PubMed:34679700). The proteolytic cleavage occurs after intracellular homotrimerization and releases into the extracellular matrix a large, catalytically active fragment and a smaller fragment consisting primarily of the C-terminal VWFC domain (PubMed:27697841, PubMed:31295557). The processing enhances both peroxidase activity and sulfilimine cross-links formation (PubMed:27697841, PubMed:34679700).
messages: The VWFC domain mediates the covalent links between monomers throught disulfide bridges (PubMed:25713063). Ig-like C2-type domains are required to sulfilimine bond formation (PubMed:26178375). The VWFC domain is not required for trimerization (PubMed:31295557). The LRR domain mediates high affinity binding to laminin-1 (PubMed:32485152).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The hypobromous acid formation is activated by increasing nitrite concentrations and inhibited by increasing urate concentrations.
messages: basement membrane
messages: extracellular matrix

9606:SEC14L4
gene id: 9606:SEC14L4
uniprot id: Q9UDX3
names: Function
messages: Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids.

9606:GALP
gene id: 9606:GALP
uniprot id: Q9UBC7
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the galanin family.
messages: Cleavage of the signal peptide generates a peptide of 25 amino acids, termed alarin because of the N-terminal alanine and the C-terminal serine. Involved in ganglionic differentiation in neuroblastic tumor tissues. Vasoactive peptide.
messages: Exhibits potent and dose-dependent vasoconstrictor and anti-edema activity in the cutaneous microvasculature, a physiologic effects which does not appear to be mediated via GALR1 or GALR2. Exhibits antimicrobial activity against Gram-negative bacterias, inducing bacterial membrane blebbing (PubMed:23537644).
messages: Hypothalamic neuropeptide which binds to the G-protein-coupled galanin receptors (GALR1, GALR2 and GALR3). Involved in a large number of putative physiological functions in CNS homeostatic processes, including the regulation of gonadotropin-releasing hormone secretion.
messages: Isoform 2 is found in ganglia of ganglioneuroma and ganglioneuroblastoma, as well as in differentiated tumor cells of neuroblastoma tissues. Not found in undifferentiated neuroblasts. Isoform 2 is found in the skin, in pericytes covering microvascular arterioles and venules on their abluminal surfaces. In larger vessels, isoform 2 is expressed in layers of smooth muscle cells. Isoform 2 is not detected in endothelial cells.
messages: Secreted

9606:CBL
gene id: 9606:CBL
uniprot id: P22681
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with M.tuberculosis LpqN, which influences the balance between intrinsic antibacterial and antiviral defense.
messages: Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome (PubMed:17094949). Ubiquitinates SPRY2 (PubMed:17094949, PubMed:17974561). Ubiquitinates EGFR (PubMed:17974561). Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis. Essential for osteoclastic bone resorption. The 'Tyr-731' phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBLB, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity).
messages: Cell membrane
messages: Cytoplasm
messages: Forms homodimers; IFT20 promotes the formation of stable homodimers (PubMed:29237719). Interacts (phosphorylated at Tyr-731) with PIK3R1. Associates with NCK via its SH3 domain. The phosphorylated C-terminus interacts with CD2AP via its second SH3 domain. Binds to UBE2L3. Interacts with adapters SLA, SLA2 and with the phosphorylated C-terminus of SH2B2. Interacts with EGFR, SYK and ZAP70 via the highly conserved Cbl-N region. Also interacts with SORBS1 and INPPL1/SHIP2. Interacts with phosphorylated LAT2 (By similarity). Interacts with CBLB (PubMed:29237719). Interacts with ALK, AXL, BLK, FGR and FGFR2. Interacts with CSF1R, EPHB1, FLT1, KDR, PDGFRA and PDGFRB; regulates receptor degradation through ubiquitination. Interacts with HCK and LYN. Interacts with ATX2 (By similarity). Interacts with TEK/TIE2 (tyrosine phosphorylated). Interacts with SH3KBP1 and this interaction is inhibited in the presence of SHKBP1 (By similarity). Interacts with SIGLEC10 (By similarity). Interacts with IFT20 (PubMed:29237719). Interacts with SPRY2; the interaction inhibits CBL-mediated ubiquitination of EGFR (PubMed:17974561).
messages: Golgi apparatus
messages: Phosphorylated on tyrosine residues by ALK, EGFR, SYK, FYN and ZAP70 (By similarity). Phosphorylated on tyrosine residues in response to FLT1 and KIT signaling. Phosphorylated on tyrosine residues by INSR and FGR. Phosphorylated on several tyrosine residues by constitutively activated FGFR3. Not phosphorylated at Tyr-731 by FGFR3. Phosphorylated on tyrosine residues by activated CSF1R, PDGFRA and PDGFRB. Phosphorylated on tyrosine residues by HCK.
messages: The N-terminus is composed of the phosphotyrosine binding (PTB) domain, a short linker region and the RING-type zinc finger. The PTB domain, which is also called TKB (tyrosine kinase binding) domain, is composed of three different subdomains: a four-helix bundle (4H), a calcium-binding EF hand and a divergent SH2 domain.
messages: The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This protein has one functional calcium-binding site.
messages: Ubiquitinated, leading to its degradation via the proteasome (PubMed:11896602, PubMed:20094046). Ubiquitination is negatively regulated by IFT20 (PubMed:29237719).
messages: cilium

9606:KNTC1
gene id: 9606:KNTC1
uniprot id: P50748
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores (PubMed:11146660, PubMed:11590237, PubMed:15824131). Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex.
messages: High expression in testis.
messages: Interacts with ZW10; the interaction is required for stable association with the kinetochore. Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH; in the complex interacts directly with ZWILCH.
messages: Nucleus
messages: kinetochore
messages: spindle

9606:ZNF330
gene id: 9606:ZNF330
uniprot id: B4DFG9
uniprot id: Q53EN0
uniprot id: Q9Y3S2
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the NOA36 family.
messages: Nucleus
messages: Widely expressed. Higher expression seen in heart and skeletal muscle.
messages: centromere
messages: nucleolus

9606:OR1F1
gene id: 9606:OR1F1
uniprot id: O43749
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:SNAPC1
gene id: 9606:SNAPC1
uniprot id: Q16533
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Nucleus
messages: Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC1 interacts with SNAPC3, SNAPC4 and TBP.
messages: Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.

9606:MYL10
gene id: 9606:MYL10
uniprot id: Q9BUA6
names: Miscellaneous
names: Subunit
messages: Myosin is a hexamer of 2 heavy chains and 4 light chains.
messages: This chain binds calcium.

9606:KIF3A
gene id: 9606:KIF3A
uniprot id: B4DHG8
uniprot id: E9PES4
uniprot id: J3KPF9
uniprot id: Q05CT3
uniprot id: Q9Y496
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily.
messages: Heterodimer of KIF3A and KIF3B (By similarity). Interacts with PIFO (PubMed:20643351). Interacts with CLN3 (PubMed:22261744). Interacts with DCTN1 (By similarity). Interacts with FLCN (PubMed:27072130). Interacts with AP3B1 (PubMed:19934039).
messages: Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitment of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole.
messages: centriole
messages: cilium
messages: cytoskeleton

9606:RPS15A
gene id: 9606:RPS15A
uniprot id: B2R4W8
uniprot id: P62244
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
messages: Belongs to the universal ribosomal protein uS8 family.
messages: Component of the 40S ribosomal subunit.
messages: Structural component of the ribosome (PubMed:23636399). Required for proper erythropoiesis (PubMed:27909223).
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:TMEM43
gene id: 9606:TMEM43
uniprot id: A0A024R2F9
uniprot id: Q9BTV4
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TMEM43 family.
messages: Can form oligomers through the transmembrane domains. Interacts with EMD; the interaction retains EMD at the inner nuclear membrane. Interacts with LMNA and LMNB2 (By similarity). Interacts with SUN2. Interacts with RNF26; this interaction is important to modulate innate immune signaling through the cGAS-STING pathway (PubMed:32614325). Interacts with CARD10 (PubMed:27991920). Interacts with gap junctions proteins GJB2/Cx26 and GJB4/Cx30 (PubMed:34050020).
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.
messages: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991920). Contributes to passive conductance current in cochlear glia-like supporting cells, mediated by gap junctions and necessary for hearing and speech discrimination (PubMed:34050020).
messages: Membrane
messages: Nucleus inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:FNDC5
gene id: 9606:FNDC5
uniprot id: Q8NAU1
names: Caution
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Contrary to mouse, may not be involved in the beneficial effects of muscular exercise, nor in the induction of browning of human white adipose tissue.
messages: Has been shown to be up-regulated some twofold by muscular exercise at the mRNA and protein level; this effect has been suggested to be mediated by PPARGC1A (PubMed:22237023). However, up-regulation upon exercise could not be reproduced, at least not at the mRNA level (PubMed:24040023).
messages: It is uncertain whether Met-1 or Met-76 is the initiator. Transcript evidence available at present time points at Met-76. In this short version of the protein, the signal peptide cannot be predicted and the irisin peptide is severely truncated. The first initiation codon corresponds to a non-AUG site, an N-terminal ATA codon. This initiation codon has been annotated as it is in good Kozak context and it is conserved in other primates, including gibbon, chimpanzee and gorilla. Although the existence of such a form has not been demonstrated in human, western blot analysis following endurance exercise shows the presence of an irisin peptide of similar size in human and mouse plasma (PubMed:22237023), suggesting the existence of full-length irisin in human, at least in some tissues. However, expression from Met-1 may be less efficient than that from Met-76 (PubMed:24040023).
messages: N-Glycosylated.
messages: Peroxisome membrane
messages: Secreted
messages: The extracellular domain is cleaved and released from the cell membrane.
messages: Widely expressed, with highest levels in heart. Very low expression, if any, in colon, pancreas and spleen.

9606:KBTBD13
gene id: 9606:KBTBD13
uniprot id: C9JR72
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autoubiquitinated.
messages: Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at least composed of CUL3 and KBTBD13 and RBX1. Interacts with CUL3.
messages: Cytoplasm
messages: Expressed in skeletal muscle.
messages: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.
messages: The BCB domain mediates the interaction with CUL3.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ALX4
gene id: 9606:ALX4
uniprot id: Q9H161
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the paired homeobox family.
messages: Binds DNA.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Expression is likely to be restricted to bone. Found in parietal bone.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.

9606:QTRT1
gene id: 9606:QTRT1
uniprot id: Q9BXR0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the queuine tRNA-ribosyltransferase family.
messages: Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (PubMed:11255023, PubMed:20354154). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, forming a covalent enzyme-RNA intermediate. The proton acceptor active site deprotonates the incoming queuine, allowing a nucleophilic attack on the C1' of the ribose to form the product (By similarity).
messages: Cytoplasm
messages: Heterodimer of a catalytic subunit QTRT1 and an accessory subunit QTRT2.
messages: Mitochondrion outer membrane

9606:KRTAP8-1
gene id: 9606:KRTAP8-1
uniprot id: Q8IUC2
names: Function
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the KRTAP type 8 family.
messages: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
messages: Interacts with hair keratins.
messages: Is essentially restricted to only one vertical half of the hair forming compartment and in beard hairs is absent from the central medulla.

9606:SLC29A1
gene id: 9606:SLC29A1
uniprot id: Q99808
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Basolateral cell membrane
messages: Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
messages: Cell membrane
messages: Detected in erythrocytes (at protein level). Expressed in heart, brain, mammary gland, erythrocytes and placenta, and also in fetal liver and spleen.
messages: Glycosylated.
messages: Identified in a complex with STOM.
messages: Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs).

9606:TFIP11
gene id: 9606:TFIP11
uniprot id: A0A024R1I7
uniprot id: Q9UBB9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TFP11/STIP family.
messages: Cytoplasm
messages: Identified in the spliceosome C complex. Found in the Intron Large (IL) complex, a post-mRNA release spliceosomal complex containing the excised intron, U2, U5 and U6 snRNPs, and splicing factors. Interacts with TUFT1. Interacts with DHX15; indicative for a recruitment of DHX15 to the IL complex. Interacts with GCFC2.
messages: Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix.
messages: Nucleus

9606:TAGLN
gene id: 9606:TAGLN
uniprot id: Q01995
uniprot id: Q5U0D2
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
messages: Actin cross-linking/gelling protein (By similarity). Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence.
messages: Belongs to the calponin family.
messages: Cytoplasm
messages: Overexpressed in senescent human fibroblasts.

9606:TMEM38A
gene id: 9606:TMEM38A
uniprot id: Q9H6F2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TMEM38 family.
messages: Homotrimer; trimerization probably requires binding to phosphatidylinositol 4,5-bisphosphate (PIP2).
messages: Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores.
messages: Nucleus membrane
messages: Sarcoplasmic reticulum membrane

9606:AMN1
gene id: 9606:AMN1
uniprot id: Q8IY45
names: Similarity
names: Subunit
messages: Belongs to the AMN1 family.
messages: Interacts with TASOR.

9606:SSPN
gene id: 9606:SSPN
uniprot id: Q14714
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC.
messages: Isoform 1 is expressed exclusively in heart and skeletal muscle. Isoform 2 is expressed in heart, skeletal muscle, thymus, prostate, testis, ovary, small intestine, colon and spleen.
messages: Postsynaptic cell membrane
messages: sarcolemma

9606:RNFT2
gene id: 9606:RNFT2
uniprot id: Q96EX2
names: Subcellular Location Annotation
messages: Membrane

9606:SLCO5A1
gene id: 9606:SLCO5A1
uniprot id: Q9H2Y9
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the organo anion transporter (TC 2.A.60) family.
messages: Cell membrane

9606:CDKL1
gene id: 9606:CDKL1
uniprot id: A0A5H1ZRP5
uniprot id: Q00532
names: Domain
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
messages: Cytoplasm
messages: Highly expressed in kidney, and to a lower extent in ovary.
messages: Nucleus
messages: The [NKR]KIAxRE motif seems to be a cyclin-binding region.

9606:WNT10A
gene id: 9606:WNT10A
uniprot id: A0A2K8FR47
uniprot id: Q9GZT5
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Wnt family.
messages: Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity (PubMed:26902720). The complex with AFM may represent the physiological form in body fluids (PubMed:26902720).
messages: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:29178643, PubMed:28589954). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 in foot plant epithelium (PubMed:28589954). Required for normal hair follicle function (PubMed:28589954).
messages: Ligand for members of the frizzled family of seven transmembrane receptors.
messages: Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular matrix

9606:BARX1
gene id: 9606:BARX1
uniprot id: Q9HBU1
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the BAR homeobox family.
messages: Nucleus
messages: The polymorphism is not associated with Axenfeld-Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations.
messages: Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter.
messages: Widely expressed. Expressed at higher levels in testis and heart. Detected in craniofacial tissue and adult iris, but not in lymphocytes, fibroblasts, choroid retina, retinal pigment epithelium, kidney, or fetal liver.

9606:GPR52
gene id: 9606:GPR52
uniprot id: F2YGU0
uniprot id: Q9Y2T5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Expressed in brain, especially in striatum.
messages: Gs-coupled receptor activated by antipsychotics reserpine leading to an increase in intracellular cAMP and its internalization (PubMed:24587241). May play a role in locomotor activity through modulation of dopamine, NMDA and ADORA2A-induced locomotor activity. These behavioral changes are accompanied by modulation of the dopamine receptor signaling pathway in striatum (PubMed:24587241). Modulates HTT level via cAMP-dependent but PKA independent mechanisms throught activation of RAB39B that translocates HTT to the endoplasmic reticulum, thus avoiding proteasome degradation (PubMed:25738228).

9606:CST4
gene id: 9606:CST4
uniprot id: P01036
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the cystatin family.
messages: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in saliva, tears, urine and seminal fluid.
messages: Phosphorylated at both its N- and C-terminal regions.
messages: Secreted
messages: This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively.

9606:HNRNPCL2
gene id: 9606:HNRNPCL2
uniprot id: B2RXH8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the RRM HNRPC family. RALY subfamily.
messages: May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs.
messages: Nucleus

9606:GAA
gene id: 9606:GAA
uniprot id: P10253
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the glycosyl hydrolase 31 family.
messages: Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).
messages: Lysosome
messages: Lysosome membrane
messages: Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.
messages: The different forms of acid glucosidase are obtained by proteolytic processing.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer.

9606:KLF10
gene id: 9606:KLF10
uniprot id: Q13118
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Sp1 C2H2-type zinc-finger protein family.
messages: By TGFB1 and BMP2.
messages: Nucleus
messages: Transcriptional repressor which binds to the consensus sequence 5'-GGTGTG-3'. Plays a role in the regulation of the circadian clock; binds to the GC box sequence in the promoter of the core clock component ARTNL/BMAL1 and represses its transcriptional activity. Regulates the circadian expression of genes involved in lipogenesis, gluconeogenesis, and glycolysis in the liver. Represses the expression of PCK2, a rate-limiting step enzyme of gluconeogenesis (By similarity). May play a role in the cell cycle regulation.
messages: Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation.

9606:STAT3
gene id: 9606:STAT3
uniprot id: A0A7I2V395
uniprot id: P40763
names: Caution
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with HCV core protein.
messages: (Microbial infection) Interacts with S.typhimurium SarA.
messages: (Microbial infection) Interacts with human cytomegalovirus (HHV-5) immediate early protein IE1; this interaction leads to STAT3 nuclear accumulation and disruption of IL6-induced STAT3 phosphorylation.
messages: (Microbial infection) Phosphorylated on Tyr-705 in the presence of S.typhimurium SarA.
messages: Acetylated on lysine residues by CREBBP. Deacetylation by LOXL3 leads to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600).
messages: Belongs to the transcription factor STAT family.
messages: Cytoplasm
messages: Forms a homodimer or a heterodimer with a related family member (at least STAT1) (PubMed:28065600). Interacts with IL31RA, NCOA1, PELP1, SIPAR, SOCS7, STATIP1 and TMF1 (PubMed:15994929, PubMed:15194700, PubMed:17344214, PubMed:15677474, PubMed:15467733) (By similarity). Interacts with IL23R in presence of IL23 (PubMed:12023369). Interacts (via SH2 domain) with NLK. Interacts with ARL2BP; the interaction is enhanced by LIF and JAK1 expression (By similarity). Interacts with KPNA4 and KPNA5; KPNA4 may be the primary mediator of nuclear import (By similarity). Interacts with CAV2; the interaction is increased on insulin-induced tyrosine phosphorylation of CAV2 and leads to STAT3 activation (By similarity). Interacts with ARL2BP; interaction is enhanced with ARL2 (PubMed:18234692). Interacts with NEK6 (By similarity). Binds to CDK9 when activated and nuclear (PubMed:17956865). Interacts with BMX (PubMed:10688651). Interacts with ZIPK/DAPK3 (PubMed:16219639). Interacts with PIAS3; the interaction occurs on stimulation by IL6, CNTF or OSM and inhibits the DNA binding activity of STAT3 (PubMed:9388184). In prostate cancer cells, interacts with PRKCE and promotes DNA binding activity of STAT3 (PubMed:17875724). Interacts with STMN3, antagonizing its microtubule-destabilizing activity (By similarity). Interacts with the 'Lys-129' acetylated form of BIRC5/survivin (PubMed:20826784). Interacts with FER (PubMed:19147545). Interacts (via SH2 domain) with EIF2AK2/PKR (via the kinase catalytic domain) (PubMed:23084476). Interacts with INPP5F; the interaction is independent of STAT3 Tyr-705 phosphorylation status (PubMed:25476455). Interacts with FGFR4 (PubMed:26675719). Interacts with OCAD1 (By similarity). Interacts (unphosphorylated or phosphorylated at Ser-727) with PHB1 (PubMed:31899195). Interacts and may form heterodimers with NHLH1 (By similarity).
messages: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in naive CD4(+) T cells as well as T-helper Th17, Th1 and Th2 cells (PubMed:31899195).
messages: Involved in the gp130-mediated signaling pathway.
messages: Nucleus
messages: Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194700, PubMed:17344214, PubMed:18242580, PubMed:22306293, PubMed:23084476). Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene (PubMed:17344214). May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:12873986). Upon activation of IL6ST/gp130 signaling by interleukin-6 (IL6), binds to the IL6-responsive elements identified in the promoters of various acute-phase protein genes (PubMed:12359225). Activated by IL31 through IL31RA (PubMed:15194700). Acts as a regulator of inflammatory response by regulating differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): deacetylation and oxidation of lysine residues by LOXL3, leads to disrupt STAT3 dimerization and inhibit its transcription activity (PubMed:28065600). Involved in cell cycle regulation by inducing the expression of key genes for the progression from G1 to S phase, such as CCND1 (PubMed:17344214). Mediates the effects of LEP on melanocortin production, body energy homeostasis and lactation (By similarity). May play an apoptotic role by transctivating BIRC5 expression under LEP activation (PubMed:18242580). Cytoplasmic STAT3 represses macroautophagy by inhibiting EIF2AK2/PKR activity (PubMed:23084476). Plays a crucial role in basal beta cell functions, such as regulation of insulin secretion (By similarity).
messages: Some lysine residues are oxidized to allysine by LOXL3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Tyrosine phosphorylated upon stimulation with EGF. Tyrosine phosphorylated in response to constitutively activated FGFR1, FGFR2, FGFR3 and FGFR4 (By similarity). Activated through tyrosine phosphorylation by BMX. Tyrosine phosphorylated in response to IL6, IL11, LIF, CNTF, KITLG/SCF, CSF1, EGF, PDGF, IFN-alpha, LEP and OSM. Activated KIT promotes phosphorylation on tyrosine residues and subsequent translocation to the nucleus. Phosphorylated on serine upon DNA damage, probably by ATM or ATR. Serine phosphorylation is important for the formation of stable DNA-binding STAT3 homodimers and maximal transcriptional activity. ARL2BP may participate in keeping the phosphorylated state of STAT3 within the nucleus. Upon LPS challenge, phosphorylated within the nucleus by IRAK1. Upon erythropoietin treatment, phosphorylated on Ser-727 by RPS6KA5. Phosphorylation at Tyr-705 by PTK6, isoform M2 of PKM (PKM2) or FER leads to an increase of its transcriptional activity (PubMed:12763138, PubMed:16568091, PubMed:21135090, PubMed:22306293). Dephosphorylation on tyrosine residues by PTPN2 negatively regulates IL6/interleukin-6 signaling.
messages: Was shown to be S-palmitoylated by ZDHHC19, leading to STAT3 homodimerization. However, this study was later retracted.

9606:ATL3
gene id: 9606:ATL3
uniprot id: B4DXC4
uniprot id: F5H6I7
uniprot id: Q6DD88
names: Disease Annotation
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant splicing.
messages: Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family.
messages: Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
messages: Endoplasmic reticulum membrane
messages: Expressed in the central nervous system and in dorsal root ganglia neurons. Expressed in peripheral tissues (at protein level).
messages: GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977).
messages: Interacts with ZFYVE27 (PubMed:23969831). Interacts with REEP5 (PubMed:32075961).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CYB561D2
gene id: 9606:CYB561D2
uniprot id: O14569
names: Cofactor
names: Function
names: Subcellular Location Annotation
messages: Binds 2 heme b groups non-covalently.
messages: Cytoplasmic vesicle membrane
messages: Endoplasmic reticulum membrane
messages: Transmembrane reductase that may use ascorbate as an electron donor in the cytoplasm and transfer electrons across endoplasmic reticulum membranes to reduce monodehydro-L-ascorbate radical and iron cations Fe(3+) in the lumen of that compartment.

9606:OR52K2
gene id: 9606:OR52K2
uniprot id: A0A126GVK8
uniprot id: Q8NGK3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:FNDC9
gene id: 9606:FNDC9
uniprot id: Q8TBE3
names: Caution
names: Subcellular Location Annotation
messages: Encoded in intron of the gene CYFIP2 (opposite strand).
messages: Membrane

9606:GPR12
gene id: 9606:GPR12
uniprot id: A8K2F5
uniprot id: B4DG25
uniprot id: P47775
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity). Receptor with constitutive G(s) signaling activity that stimulates cyclic AMP production.
messages: Was originally (PubMed:12220620) thought to be a receptor for sphingosine 1-phosphate. It has been demonstrated that it is not the case in human (PubMed:19286662).

9606:ZNF287
gene id: 9606:ZNF287
uniprot id: Q6PEZ3
uniprot id: Q9HBT7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:ATXN2L
gene id: 9606:ATXN2L
uniprot id: H3BUF6
uniprot id: Q8WWM7
names: Function
names: Miscellaneous
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Asymmetrically dimethylated. Probably methylated by PRMT1.
messages: Belongs to the ataxin-2 family.
messages: Cytoplasm
messages: Cytoplasmic granule
messages: Due to intron retention.
messages: Exon duplication.
messages: Expressed at high levels in thymus, lymph node, spleen, fetal kidney and adult testis. Constitutively associated with MPL and EPOR in hematopoietic cells.
messages: Interacts with MPL/TPOR and EPOR and dissociates after ligand stimulation (PubMed:11784712). Interacts with DDX6, G3BP1, and ATXN2 (PubMed:23209657). Interacts with PRMT1 (PubMed:25748791). Interacts with CIC and ATXN1 (By similarity).
messages: Involved in the regulation of stress granule and P-body formation.
messages: Membrane
messages: Nucleus speckle
messages: Thrombopoietin triggers the phosphorylation on tyrosine residues in a way that is dependent on MPL C-terminal domain.

9606:CBFA2T3
gene id: 9606:CBFA2T3
uniprot id: O75081
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving CBFA2T3 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.
messages: Aberrant splicing.
messages: Belongs to the CBFA2T family.
messages: Down-regulated by all-trans retinoic acid (ATRA).
messages: Golgi apparatus membrane
messages: Homooligomer. Homotetramerization is mediated by nervy homology region 2 (NRH2) (By similarity). Can interact with RUNX1T1 and CBFA2T2; heterotetramerization between members of the CBFA2T family is proposed (PubMed:12242670). Component of a TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Interacts with ERBB4, HDAC1, HDAC2, HDAC3, HDAC6, HDAC8, NCOR1, NCOR2, and ZNF652. According to PubMed:12242670, may not interact with HDAC6. Interacts with PLXNA1, PLXNA3 and PRKAR1A. Isoform 2 interacts with PRKAR2A, PDE7A and probably PDE4A. Interacts with ZBTB4, ZBTB38 and ZBTB33. Interacts with HIF1A and EGLN1. Interacts with the AML1-MTG8/ETO fusion protein.
messages: Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).
messages: Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.
messages: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097). Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097). Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation (PubMed:15231665).
messages: Widely expressed with higher expression in heart, pancreas, skeletal muscle, spleen, thymus and peripheral blood leukocytes. Expressed in hematopoietic cells (at protein level).
messages: nucleolus
messages: nucleoplasm

9606:NUDT1
gene id: 9606:NUDT1
uniprot id: A0A024R819
uniprot id: A0A024R858
uniprot id: P36639
names: Activity Regulation
names: Caution
names: Cofactor
names: Developmental Stage
names: Function
names: Miscellaneous
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A polymorphism between Met-1 and Met-19 removes a stop codon before the initiation codon for isoform p22 and gives rise to the production of isoform p26. The allele frequency of isoform p26 is about 20%.
messages: Belongs to the Nudix hydrolase family.
messages: Binds 2 Mg(2+) ion per subunit.
messages: Contains a predicted transit peptide (1-18) for localization to the mitochondrion.
messages: Derived from a B-type mRNA with a polymorphic alteration (GU-->GC) at the beginning of exon 2c that converts an in-frame UGA to CGA yielding another in-frame AUG further upstream.
messages: In peripheral blood lymphocytes, expressed at much higher levels in proliferating cells than in resting cells.
messages: Inhibited by 2-oxo-dADP and 8-oxo-dGDP.
messages: Mitochondrion matrix
messages: Monomer.
messages: Nucleus
messages: Oxidized purine nucleoside triphosphate hydrolase which is a prominent sanitizer of the oxidized nucleotide pool (PubMed:8226881, PubMed:7713500, PubMed:10608900, PubMed:12857738, PubMed:22556419, PubMed:26238318, PubMed:24695224, PubMed:24695225, PubMed:28679043). Catalyzes the hydrolysis of 2-oxo-dATP (2-hydroxy-dATP) into 2-oxo-dAMP (PubMed:10373420). Has also a significant hydrolase activity toward 2-oxo-ATP, 8-oxo-dGTP and 8-oxo-dATP (PubMed:10373420, PubMed:11139615). Through the hydrolysis of oxidized purine nucleoside triphosphates, prevents their incorporation into DNA and the subsequent transversions A:T to C:G and G:C to T:A (PubMed:8226881, PubMed:10373420, PubMed:10608900, PubMed:11756418, PubMed:12857738, PubMed:16607562, PubMed:24695224, PubMed:24695225, PubMed:26999531, PubMed:28035004). Also catalyzes the hydrolysis of methylated purine nucleoside triphosphate preventing their integration into DNA (PubMed:30304478, PubMed:32144205). Through this antimutagenic activity protects cells from oxidative stress (PubMed:8226881, PubMed:7713500, PubMed:10608900, PubMed:12857738, PubMed:24695224, PubMed:24695225, PubMed:30304478, PubMed:32144205).
messages: The N-terminus is blocked.
messages: The role in cancer cell survival is under debate. Was originally considered to play a role as a sanitizing enzyme for oxidized nucleotide pools, and thus important for the survival of cancer cells (PubMed:24695224, PubMed:24695225). A later study indicates that NUDT1 plays a redundant role in eliminating oxidized nucleotides and that it is not essential for cancer cell proliferation and survival (PubMed:28679043).
messages: Widely expressed with highest expression in thymus, testis, embryo and proliferating blood lymphocytes.
messages: cytosol

9606:CD163L1
gene id: 9606:CD163L1
uniprot id: Q9NR16
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Isoform 1 is highly expressed in the spleen, lymph nodes, thymus, and fetal liver and weakly expressed in bone marrow and no expression was found in peripheral blood leukocytes. Isoform 1 expression is restricted to the monocyte and macrophage cell lines. Isoform 2 is only expressed in spleen.
messages: Secreted

9606:ANTKMT
gene id: 9606:ANTKMT
uniprot id: J3KMW5
uniprot id: Q9BQD7
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ANT/ATPSC lysine N-methyltransferase family.
messages: Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration (PubMed:31213526). Probably also trimethylates ANT1/SLC25A4 (PubMed:31213526).
messages: Mitochondrion membrane
messages: The pre-methyltransferase (preMT) region is responsible for mitochondrial localization.

9606:PADI3
gene id: 9606:PADI3
uniprot id: Q9ULW8
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the protein arginine deiminase family.
messages: Catalyzes the deimination of arginine residues of proteins.
messages: Cytoplasm
messages: Hair follicles, and epidermis at very low levels.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MRPL17
gene id: 9606:MRPL17
uniprot id: Q9NRX2
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the bacterial ribosomal protein bL17 family.
messages: Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
messages: Detected in adrenal gland, mammary gland and adipose tissue.
messages: Mitochondrion

9606:OTX2
gene id: 9606:OTX2
uniprot id: F1T0D0
uniprot id: F1T0D1
uniprot id: P32243
names: Developmental Stage
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: At Carnegie stage (CS) 14, widely expressed throughout the telencephalon and mesencephalon, with a sharp cutoff at the midbrain-hindbrain boundary. At CS16, found in the lamina terminalis and the floor of the telencephalon. At CS16-CS19, in the developing eye, strongly expressed in the retinal pigment epithelium layer and more weakly in the neural retina, not expressed in the optic nerve itself (at protein level). Retinal expression peaks between CS19 and CS21 and decline in older fetuses. At CS22, detected in the choroid plexus, the dorsal thalamus, and the roof of the mesencephalon. In the developing nasal structures, expressed in the olfactory epithelium of the nasal pits at CS18.
messages: Belongs to the paired homeobox family. Bicoid subfamily.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'.

9606:CPEB2
gene id: 9606:CPEB2
uniprot id: A0A5K1VW61
uniprot id: A0A5K1VW71
uniprot id: A0A5K1VW79
uniprot id: A0A5K1VW93
uniprot id: Q7Z5Q1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RRM CPEB family.
messages: Cytoplasm
messages: Interacts with TENT2/GLD2.
messages: May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids. Binds to poly(U) RNA oligomers (By similarity). Required for cell cycle progression, specifically for the transition from metaphase to anaphase (PubMed:26398195).

9606:KIF18B
gene id: 9606:KIF18B
uniprot id: Q86Y91
names: Developmental Stage
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
messages: Cytoplasm
messages: In complex with KIF2C, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Its major role may be to transport KIF2C and/or MAPRE1 along microtubules.
messages: Interacts with MAPRE1; this interaction is required for efficient accumulation at microtubule plus ends. Interacts with KIF2C at microtubule tips; this interaction increases the affinity of both partners for microtubule plus ends and is required for robust microtubule depolymerization. KIF2C phosphorylation by AURKA or AURKB strongly reduces KIF18B-binding.
messages: Nucleus
messages: Probable cloning artifact.
messages: Regulated in a cell cycle-dependent manner. Not expressed in the G1 phase. In G2, sequestered in the nucleus. Maximal levels seen at late G2/M phase and early prometaphase. Degraded at the metaphase-anaphase transition (at protein level).
messages: Shows a prominent expression in the amygdala.
messages: cytoskeleton

9606:PLAA
gene id: 9606:PLAA
uniprot id: Q9Y263
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the WD repeat PLAP family.
messages: Cytoplasm
messages: Interacts with ubiquitin (PubMed:19423704). Interacts with UBXN6, VCP and YOD1; may form a complex involved in macroautophagy (PubMed:27753622, PubMed:19887378).
messages: Nucleus
messages: Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF-alpha)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis (PubMed:18291623, PubMed:28007986).
messages: Synapse
messages: The PFU domain mediates interaction with ubiquitin.
messages: The PUL domain is composed of 6 armadillo-like repeats and mediates the interaction with VCP C-terminus.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated by tumor necrosis factor alpha (TNF-alpha) (at protein level) (PubMed:18291623).

9606:DMRTA1
gene id: 9606:DMRTA1
uniprot id: Q5VZB9
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the DMRT family.
messages: Expressed in liver, kidney, pancreas, prostate and weakly detected in testis and ovary.
messages: Nucleus

9606:RNF113A
gene id: 9606:RNF113A
uniprot id: O15541
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of pre-catalytic and catalytic spliceosome complexes (PubMed:22365833, PubMed:29361316, PubMed:29360106). Interacts (via N-terminus) with the spliceosome subunit SNRNP200/BRR2 (PubMed:29144457).
messages: Nucleus
messages: Nucleus speckle
messages: Required for pre-mRNA splicing as component of the spliceosome (PubMed:29361316, PubMed:29360106). E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins (PubMed:28978524, PubMed:29144457). Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Plays a role in DNA repair via its role in the synthesis of 'Lys-63'-linked polyubiquitin chains that recruit ALKBH3 and the ASCC complex to sites of DNA damage by alkylating agents (PubMed:29144457). Ubiquitinates CXCR4, leading to its degradation, and thereby contributes to the termination of CXCR4 signaling (PubMed:28978524).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous.

9606:PDE6G
gene id: 9606:PDE6G
uniprot id: P18545
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
messages: Belongs to the rod/cone cGMP-PDE gamma subunit family.
messages: Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.
messages: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CEP162
gene id: 9606:CEP162
uniprot id: Q5TB80
names: Caution
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CEP162 family.
messages: Interacts with CEP290 (PubMed:23644468). Interacts with CPNE4 (By similarity). Interacts with alpha-tubulin (By similarity).
messages: Nucleus
messages: Promotes ectopic assembly of transition zone components at cilia tips when targeted outside distal ends of centrioles, generating extra-long cilia with strikingly swollen tips.
messages: Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules.
messages: Was initially thought to regulate chromosome segregation and mitotic spindle assembly (PubMed:16302001). However, it was later shown that its absence neither affect mitosis nor centriole duplication (PubMed:23644468).
messages: centriole
messages: spindle

9606:NLRC5
gene id: 9606:NLRC5
uniprot id: Q86WI3
names: Caution
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NLRP family.
messages: By IFNG/IFN-gamma.
messages: Cytoplasm
messages: Expressed in spleen, thymus, lung, brain, tonsil, heart and prostate.
messages: Interacts with CHUK and IKBKB; prevents CHUK and IKBKB phosphorylation and inhibits their kinase activity. Interacts with RIGI and IFIH1; blocks the interaction of MAVS to RIGI.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral defense mechanisms.
messages: Supposed to contain a CARD domain at the N-terminus (PubMed:20434986). However, this domain is not detected by Pfam, PROSITE or SMART. Has a weak similarity with a DAPIN domain.

9606:SLC9A2
gene id: 9606:SLC9A2
uniprot id: Q9UBY0
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
messages: Expressed in skeletal muscle, colon and kidney. Lower levels in the testis, prostate, ovary, and small intestine.
messages: Interacts with CHP1 and CHP2.
messages: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption.
messages: Membrane
messages: Phosphorylated (Possible).
messages: The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary among authors.

9606:PRDM12
gene id: 9606:PRDM12
uniprot id: Q9H4Q4
names: Disease Annotation
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily.
messages: Involved in the positive regulation of histone H3-K9 dimethylation.
messages: Not found in adult tissues except in dorsal root ganglia.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The poly-alanine tract is polymorphic in the general population and contains a maximum of 14 alanines.

9606:CETN3
gene id: 9606:CETN3
uniprot id: O15182
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores.
messages: Belongs to the centrin family.
messages: Monomer (By similarity). Component of the nuclear pore complex (NPC)-associated TREX-2 complex (transcription and export complex 2), composed of at least GANP, 2 copies of ENY2, PCID2, SEM1/DSS1, and either centrin CETN2 or centrin CETN3. The TREX-2 complex also associates with ALYREF/ALY and with the nucleoporin NUP153 (PubMed:22307388, PubMed:23591820).
messages: Nucleus envelope
messages: Plays a fundamental role in microtubule-organizing center structure and function.
messages: centriole
messages: centrosome
messages: nuclear pore complex
messages: nucleolus

9606:GABARAP
gene id: 9606:GABARAP
uniprot id: O95166
uniprot id: Q6IAW1
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) The Legionella effector RavZ is a deconjugating enzyme that hydrolyzes the amide bond between the C-terminal glycine residue and an adjacent aromatic residue in ATG8 proteins conjugated to phosphatidylethanolamine (PE), producing an ATG8 protein that is resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine (PubMed:31722778). RavZ is also able to mediate delipidation of ATG8 proteins conjugated to phosphatidylserine (PS) (PubMed:33909989).
messages: Belongs to the ATG8 family.
messages: Cytoplasmic vesicle
messages: Endomembrane system
messages: Golgi apparatus membrane
messages: Heart, brain, placenta, liver, skeletal muscle, kidney and pancreas.
messages: Interacts with GPHN and NSF (By similarity). Interacts with ATG3, ATG7, ATG13 (PubMed:11096062, PubMed:11825910, PubMed:12507496, PubMed:23043107). Interacts with alpha- and beta-tubulin (PubMed:9892355, PubMed:11729197). Interacts with GABRG2 (PubMed:9892355, PubMed:11729197). Interacts with RB1CC1 (PubMed:23043107). Interacts with ULK1 (PubMed:11146101, PubMed:23043107). Interacts with CALR (PubMed:19154346). Interacts with DDX47 (PubMed:15977068). Interacts with TP53INP1 and TP53INP2 (PubMed:19056683, PubMed:22421968, PubMed:22470510). Interacts with TBC1D5 and TBC1D25 (PubMed:21383079, PubMed:22354992). Directly interacts with SQSTM1 (PubMed:17580304, PubMed:24668264). Interacts with MAPK15 (PubMed:22948227). Interacts with TECPR2 (PubMed:20562859). Interacts with PCM1 (PubMed:24089205). Interacts with TRIM5 and TRIM21 (PubMed:25127057, PubMed:26347139). Interacts with MEFV (PubMed:26347139). Interacts with KIF21B (By similarity). Interacts with WDFY3; this interaction is required for WDFY3 recruitment to MAP1LC3B-positive p62/SQSTM1 bodies (PubMed:24668264). Interacts with the reticulophagy receptor TEX264 (PubMed:31006538). Interacts with UBA5 (PubMed:26929408). Interacts with FLCN; interaction regulates autophagy (PubMed:25126726). Interacts with KBTBD6 and KBTBD7; the interaction is direct and required for the ubiquitination of TIAM1 (PubMed:25684205). Interacts with reticulophagy regulators RETREG1, RETREG2 and RETREG3 (PubMed:34338405).
messages: The precursor molecule is cleaved by ATG4 (ATG4A, ATG4B, ATG4C or ATG4D) to expose the glycine at the C-terminus and form the cytosolic form, GABARAP-I (PubMed:15169837, PubMed:20818167, PubMed:30661429). The processed form is then activated by APG7L/ATG7, transferred to ATG3 and conjugated to phosphatidylethanolamine (PE) phospholipid to form the membrane-bound form, GABARAP-II (PubMed:15169837). During non-canonical autophagy, the processed form is conjugated to phosphatidylserine (PS) phospholipid (PubMed:33909989). ATG4 proteins also mediate the delipidation of PE-conjugated forms (PubMed:33909989). In addition, ATG4B and ATG4D mediate delipidation of ATG8 proteins conjugated to PS during non-canonical autophagy (PubMed:33909989). ATG4B constitutes the major protein for proteolytic activation (PubMed:30661429). ATG4D is the main enzyme for delipidation activity (By similarity).
messages: Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton (PubMed:9892355). Involved in autophagy: while LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:15169837, PubMed:20562859, PubMed:22948227). Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538). Also required for the local activation of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex, regulating ubiquitination and degradation of TIAM1, a guanyl-nucleotide exchange factor (GEF) that activates RAC1 and downstream signal transduction (PubMed:25684205). Thereby, regulates different biological processes including the organization of the cytoskeleton, cell migration and proliferation (PubMed:25684205). Involved in apoptosis (PubMed:15977068).
messages: autophagosome membrane
messages: cytoskeleton

9606:CT45A9
gene id: 9606:CT45A9
uniprot id: P0DMV1
uniprot id: P0DMV2
uniprot id: Q5DJT8
names: Similarity
names: Tissue Specificity
messages: Belongs to the CT45 family.
messages: Testis specific. Expressed in cancer cell lines.

9606:DNAH2
gene id: 9606:DNAH2
uniprot id: Q9P225
names: Disease Annotation
names: Domain
names: Function
names: RNA Editing
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: As part of the axonemal inner dynein arm complex plays a central role in ciliary beat (PubMed:30811583). Expressed in sperm flagellum, it is required for sperm motility (PubMed:30811583). Dyneins are microtubule-based molecular motors possessing ATPase activities that can convert the chemical energy of ATP into relative sliding between adjacent microtubule doublets to generate ciliary bending (PubMed:30811583).
messages: Belongs to the dynein heavy chain family.
messages: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function (By similarity).
messages: Exon 13 is extensively edited in brain.
messages: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in lung. Expressed in spermatozoa (at protein level) (PubMed:31178125).
messages: Part of the axonemal inner dynein arm complex that consists of at least two heavy chains and a number of intermediate and light chains (PubMed:30811583). Interacts with DNAI4 (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium axoneme
messages: flagellum axoneme

9606:ZPLD1
gene id: 9606:ZPLD1
uniprot id: Q8TCW7
names: Function
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytoplasmic vesicle membrane
messages: Detected in placenta, kidney, lung, pancreas and at very low level in other tissues.
messages: Glycoprotein which is a component of the gelatinous extracellular matrix in the cupulae of the vestibular organ.
messages: Proteolytically cleaved before the transmembrane segment to yield the secreted form found in the extracellular matrix of the cupula.
messages: extracellular matrix

9606:ETV3
gene id: 9606:ETV3
uniprot id: P41162
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ETS family.
messages: Nucleus
messages: Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation. Represses MMP1 promoter activity.

9606:ZNF532
gene id: 9606:ZNF532
uniprot id: A0A024R283
uniprot id: B3KXW2
uniprot id: Q9HCE3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:NETO2
gene id: 9606:NETO2
uniprot id: Q32NC3
uniprot id: Q8NC67
names: Caution
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: Accessory subunit of neuronal kainate-sensitive glutamate receptors, GRIK2 and GRIK3. Increases kainate-receptor channel activity, slowing the decay kinetics of the receptors, without affecting their expression at the cell surface, and increasing the open probability of the receptor channels. Modulates the agonist sensitivity of kainate receptors. Slows the decay of kainate receptor-mediated excitatory postsynaptic currents (EPSCs), thus directly influencing synaptic transmission (By similarity).
messages: Interacts with GRIK2 and GRIK3, but neither with AMPA-nor with NMDA-sensitive glutamate receptors.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: N-glycosylated.

9606:MGAT4A
gene id: 9606:MGAT4A
uniprot id: Q9UM21
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 54 family.
messages: Expressed in pancreas, spleen, thymus, prostate, small intestine, peripheral blood leukocytes and lymph node. Strongly overexpressed in choriocarcinoma cancer cell lines. Down-regulated in pancreatic cancer.
messages: Glycosyltransferase that catalyze the transfer of GlcNAc from UDP-GlcNAc to the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans through a beta1-4 linkage and participates in the production of tri- and tetra-antennary N-linked sugar chains (PubMed:17006639). Involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation, thereby controlling cell-surface expression of SLC2A2 in pancreatic beta cells (By similarity).
messages: Golgi apparatus membrane
messages: Inhibited by UDP.
messages: N-glycosylated.
messages: Secreted

9606:TRAPPC4
gene id: 9606:TRAPPC4
uniprot id: B4DF86
uniprot id: E9PKS9
uniprot id: E9PQE8
uniprot id: J3KP27
uniprot id: Q9Y296
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRAPP small subunits family.
messages: Belongs to the TRAPP small subunits family. TRAPPC4 subfamily.
messages: Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12 (Probable). Interacts with SDC2 (By similarity).
messages: Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May play a role in dendrite postsynaptic membrane trafficking (By similarity).
messages: Endoplasmic reticulum
messages: Golgi apparatus membrane
messages: Part of the multisubunit transport protein particle (TRAPP) complex.
messages: Postsynaptic cell membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Vesicle
messages: cis-Golgi network

9606:FGFBP2
gene id: 9606:FGFBP2
uniprot id: Q9BYJ0
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the fibroblast growth factor-binding protein family.
messages: Expressed in serum, peripheral leukocytes and cytotoxic T-lymphocytes, but not in granulocytes and monocytes (at protein level).
messages: extracellular space

9606:SRPX
gene id: 9606:SRPX
uniprot id: P78539
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell surface
messages: May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.
messages: Retina and heart; less in placenta, pancreas, lung, liver, skeletal muscle, kidney and brain.

9606:MCEMP1
gene id: 9606:MCEMP1
uniprot id: Q8IX19
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed specifically in mast cells. Found primarily in lung.
messages: Membrane

9606:MFSD4A
gene id: 9606:MFSD4A
uniprot id: Q8N468
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the major facilitator superfamily.
messages: Membrane

9606:RHOBTB2
gene id: 9606:RHOBTB2
uniprot id: Q9BYZ6
names: Disease Annotation
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the small GTPase superfamily. Rho family.
messages: Interacts with HSP90AA1 and HSP90AB1 (PubMed:26517842). Interacts with CUL3 (PubMed:29276004).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain.

9606:ARHGEF3
gene id: 9606:ARHGEF3
uniprot id: B7Z6B2
uniprot id: E9PG37
uniprot id: Q9NR81
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases.
messages: Cytoplasm
messages: Interacts with RHOA and RHOB.
messages: Widely expressed. Highest levels are found in adult brain and skeletal muscle. Lower levels are found in heart and kidney.

9606:FABP3
gene id: 9606:FABP3
uniprot id: A0A384MDY5
uniprot id: P05413
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
messages: Cytoplasm
messages: FABPs are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters.
messages: Forms a beta-barrel structure that accommodates the hydrophobic ligand in its interior.

9606:TCL1B
gene id: 9606:TCL1B
uniprot id: A0A024R6P4
uniprot id: O95988
names: Function
names: Miscellaneous
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Activated in chronic T-cell leukemias (T-CLL) carrying rearrangements of the 14q32.1 region.
messages: Belongs to the TCL1 family.
messages: Enhances the phosphorylation and activation of AKT1 and AKT2.
messages: Expressed in a variety of tissues including placenta and testis.
messages: Interacts with AKT1 and AKT2 (via PH domain). Does not interact with AKT3.

9606:CDC5L
gene id: 9606:CDC5L
uniprot id: Q99459
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving CDC5L is found in multicystic renal dysplasia. Translocation t(6;19)(p21;q13.1) with USF2.
messages: Belongs to the CEF1 family.
messages: Cytoplasm
messages: DNA-binding protein involved in cell cycle control. May act as a transcription activator. Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:11991638, PubMed:20176811, PubMed:28502770, PubMed:28076346, PubMed:29361316, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR) (PubMed:20176811).
messages: Homodimer. Interacts with DAPK3 (By similarity). Component of the precatalytic, catalytic and postcatalytic spliceosome complexes (PubMed:11991638, PubMed:28502770, PubMed:28076346, PubMed:29361316, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). Part of a spliceosomal 'core' complex consisting of CDC5L, PLRG1, SPF27, CCAP1, CCAP3 and CCAP6. Interacts with PLRG1, Lodestar/TTF2, and NIPP1/PPP1R8. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. The interaction with CTNNBL1 is direct (PubMed:18722174, PubMed:20176811, PubMed:21385873, PubMed:32484799). Interacts (via its C-terminus) directly in the complex with PRPF19 and BCAS2. Interacts (via its C-terminus) directly with PRGL1 (via its WD40 repeat domain); the interaction is required for mRNA splicing but not for spliceosome assembly. Interacts with PRPF19 (via N-terminus) (By similarity). Interacts with USB1 (PubMed:23022480).
messages: Nucleus
messages: Nucleus speckle
messages: Phosphorylated on serine and threonine residues. Phosphorylation on Thr-411 and Thr-438 is required for CDC5L-mediated mRNA splicing. Has no effect on subcellular location nor on homodimerization. Phosphorylated in vitro by CDK2. Phosphorylation enhances interaction with PPP1R8.
messages: Ubiquitously expressed in both fetal and adult tissues.

9606:CATSPER1
gene id: 9606:CATSPER1
uniprot id: Q8NEC5
names: Activity Regulation
names: Caution
names: Developmental Stage
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
messages: Component of the CatSper complex or CatSpermasome composed of the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE, CATSPERZ, C2CD6/CATSPERT, TMEM249, TMEM262 and EFCAB9 (By similarity). HSPA1 may be an additional auxiliary complex member (By similarity). The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel (By similarity). The auxiliary CATSPERB, CATSPERG, CATSPERD and CATSPERE subunits form a pavilion-like structure over the pore which stabilizes the complex through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively (By similarity). TMEM262/CATSPERH interacts with CATSPERB, further stabilizing the complex. C2CD6/CATSPERT interacts at least with CATSPERD and is required for targeting the CatSper complex in the flagellar membrane (By similarity). Interacts with Ca(v)3.3/CACNA1I, leading to suppression of T-type calcium channel activity (PubMed:16740636).
messages: Down-regulated in patients lacking sperm motility.
messages: Expressed meiotically and post-meiotically.
messages: In mouse, Slco6c1 is an additional auxiliary subunit of the CatSper complex. It is unclear if the related SLCO6A1 protein performs the same role in non-rodent species.
messages: Testis-specific.
messages: The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed:21412338, PubMed:21412339, PubMed:26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed:26989199). Indirect activation by progesterone takes place via the following mechanism: progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed:26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed:21412338, PubMed:21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed:21412338, PubMed:21412339).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.
messages: flagellum membrane

9606:ZNF35
gene id: 9606:ZNF35
uniprot id: P13682
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation. Involved in cell differentiation and/or proliferation.
messages: Nucleus

9606:CCR3
gene id: 9606:CCR3
uniprot id: A1LPE5
uniprot id: P51677
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
messages: (Microbial infection) Interacts with HIV-1 protein Tat.
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: In eosinophils as well as trace amounts in neutrophils and monocytes.
messages: Membrane
messages: Overexpression of CCR3 together with its ligands appears to be a characteristic of ulcerative colitis (UC). The production of CCR3 ligands by human colonic epithelial cells suggests further that the epithelium can play a role in modulating pathological T-cell-mediated mucosal inflammation (PubMed:21077277).
messages: Receptor for C-C type chemokine. Binds and responds to a variety of chemokines, including CCL11, CCL26, CCL7, CCL13, RANTES(CCL5) and CCL15 (PubMed:7622448, PubMed:8642344, PubMed:8676064). Subsequently transduces a signal by increasing the intracellular calcium ions level (PubMed:8676064). In addition acts as a possible functional receptor for NARS1 (PubMed:30171954).

9606:NNMT
gene id: 9606:NNMT
uniprot id: P40261
uniprot id: Q6FH49
names: Activity Regulation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family.
messages: Catalyzes the N-methylation of nicotinamide using the universal methyl donor S-adenosyl-L-methionine to form N1-methylnicotinamide and S-adenosyl-L-homocysteine, a predominant nicotinamide/vitamin B3 clearance pathway (PubMed:8182091. PubMed:21823666, PubMed:23455543). Plays a central role in regulating cellular methylation potential, by consuming S-adenosyl-L-methionine and limiting its availability for other methyltransferases. Actively mediates genome-wide epigenetic and transcriptional changes through hypomethylation of repressive chromatin marks, such as H3K27me3 (PubMed:26571212, PubMed:23455543, PubMed:31043742). In a developmental context, contributes to low levels of the repressive histone marks that characterize pluripotent embryonic stem cell pre-implantation state (PubMed:26571212). Acts as a metabolic regulator primarily on white adipose tissue energy expenditure as well as hepatic gluconeogenesis and cholesterol biosynthesis. In white adipocytes, regulates polyamine flux by consuming S-adenosyl-L-methionine which provides for propylamine group in polyamine biosynthesis, whereas by consuming nicotinamide controls NAD(+) levels through the salvage pathway (By similarity). Via its product N1-methylnicotinamide regulates protein acetylation in hepatocytes, by repressing the ubiquitination and increasing the stability of SIRT1 deacetylase (By similarity). Can also N-methylate other pyridines structurally related to nicotinamide and play a role in xenobiotic detoxification (PubMed:30044909).
messages: Cytoplasm
messages: Deiminated by PADI1 and PADI2.
messages: Inactivated by deimination on Arg-132.
messages: Monomer.
messages: Predominantly expressed in the liver. A lower expression is seen in the kidney, lung, skeletal muscle, placenta and heart. Not detected in the brain or pancreas.
messages: Prominently expressed in the stroma of high-grade serous carcinomas (PubMed:31043742). In tumorigenesis, regulates the epigenetic reprograming of cancer cells associated with increased cell migration and metastasis (PubMed:23455543, PubMed:31043742).

9606:SEL1L2
gene id: 9606:SEL1L2
uniprot id: Q5TEA6
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the sel-1 family.
messages: Membrane

9606:TRIM56
gene id: 9606:TRIM56
uniprot id: Q9BRZ2
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autoubiquitinated.
messages: Belongs to the TRIM/RBCC family.
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that plays a key role in innate antiviral immunity by mediating ubiquitination of CGAS and STING1 (PubMed:21289118, PubMed:29426904). In response to pathogen- and host-derived double-stranded DNA (dsDNA), targets STING1 to 'Lys-63'-linked ubiquitination, thereby promoting its homodimerization, a step required for the production of type I interferon IFN-beta (By similarity). Also mediate monoubiquitination of CGAS, thereby promoting CGAS oligomerization and subsequent activation (PubMed:29426904). Independently of its E3 ubiquitin ligase activity, positive regulator of TLR3 signaling. Potentiates extracellular double stranded RNA (dsRNA)-induced expression of IFNB1 and interferon-stimulated genes ISG15, IFIT1/ISG56, CXCL10, OASL and CCL5/RANTES (PubMed:22948160). Promotes establishment of an antiviral state by TLR3 ligand and TLR3-mediated chemokine induction following infection by hepatitis C virus (PubMed:22948160).
messages: Homooligomer. Interacts with STING1 (By similarity). Interacts with TICAM1 (PubMed:22948160).
messages: Up-regulated by IFN-alpha.
messages: Widely expressed (at protein level).

9606:CDKAL1
gene id: 9606:CDKAL1
uniprot id: Q5VV42
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the methylthiotransferase family. CDKAL1 subfamily.
messages: Binds 2 [4Fe-4S] clusters. One cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine.
messages: Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Endoplasmic reticulum membrane
messages: Expressed in pancreatic islets.

9606:FOXO1
gene id: 9606:FOXO1
uniprot id: Q12778
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acetylated (PubMed:20543840, PubMed:15220471, PubMed:15890677, PubMed:18786403). Acetylation at Lys-262, Lys-265 and Lys-274 are necessary for autophagic cell death induction (PubMed:20543840). Deacetylated by SIRT2 in response to oxidative stress or serum deprivation, thereby negatively regulating FOXO1-mediated autophagic cell death (PubMed:20543840). Once in the nucleus, acetylated by CREBBP/EP300 (PubMed:15220471, PubMed:15890677, PubMed:18786403). Acetylation diminishes the interaction with target DNA and attenuates the transcriptional activity. It increases the phosphorylation at Ser-256 (PubMed:15220471, PubMed:15890677, PubMed:18786403). Deacetylation by SIRT1 results in reactivation of the transcriptional activity (PubMed:15220471, PubMed:15890677, PubMed:18786403). Oxidative stress by hydrogen peroxide treatment appears to promote deacetylation and uncoupling of insulin-induced phosphorylation (PubMed:15220471, PubMed:15890677, PubMed:18786403). By contrast, resveratrol acts independently of acetylation (PubMed:15220471, PubMed:15890677, PubMed:18786403). Acetylated at Lys-423, promoting its localization to the nucleus and transcription factor activity (PubMed:25009184). Deacetylation at Lys-423 by SIRT6, promotes its translocation into the cytoplasm, preventing its transcription factor activity (PubMed:25009184). Deacetylation and subsequent inhibition by SIRT6 has different effects depending on cell types: it inhibits gluconeogenesis in hepatocytes, promotes glucose sensing in pancreatic beta-cells and regulates lipid catabolism in brown adipocytes (By similarity).
messages: Cytoplasm
messages: Expression is regulated by KRIT1. Levels of expression also regulated by FOXC1 which binds to a conserved element in the FOXO1 promoter.
messages: Interacts with LRPPRC. Interacts with RUNX2; the interaction inhibits RUNX2 transcriptional activity and mediates the IGF1/insulin-dependent BGLAP expression in osteoblasts Interacts with PPP2R1A; the interaction regulates the dephosphorylation of FOXO1 at Thr-24 and Ser-256 leading to its nuclear import. Interacts (acetylated form) with PPARG. Interacts with XBP1 isoform 2; this interaction is direct and leads to FOXO1 ubiquitination and degradation via the proteasome pathway (By similarity). Interacts with NLK. Interacts with SIRT1; the interaction results in the deacetylation of FOXO1 leading to activation of FOXO1-mediated transcription of genes involved in DNA repair and stress resistance. Binds to CDK1. Interacts with the 14-3-3 proteins, YWHAG and YWHAZ; the interactions require insulin-stimulated phosphorylation on Thr-24, promote nuclear exit and loss of transcriptional activity. Interacts with SKP2; the interaction ubiquitinates FOXO1 leading to its proteosomal degradation. The interaction requires the presence of KRIT1. Interacts (via the C-terminal half) with ATF4 (via its DNA-binding domain); the interaction occurs in osteoblasts, regulates glucose homeostasis via suppression of beta-cell proliferation and subsequent decrease in insulin production. Interacts with PRMT1; the interaction methylates FOXO1, prevents PKB/AKT1 phosphorylation and retains FOXO1 in the nucleus. Interacts with EP300 and CREBBP; the interactions acetylate FOXO1. Interacts with SIRT2; the interaction is disrupted in response to oxidative stress or serum deprivation, leading to increased level of acetylated FOXO1, which promotes stress-induced autophagy by stimulating E1-like activating enzyme ATG7. Interacts (acetylated form) with ATG7; the interaction is increased in response to oxidative stress or serum deprivation and promotes the autophagic process leading to cell death. Interacts (via the Fork-head domain) with CEBPA; the interaction increases when FOXO1 is deacetylated. Inte…
messages: Methylation inhibits AKT1-mediated phosphorylation at Ser-256 and is increased by oxidative stress.
messages: Nucleus
messages: Phosphorylation by NLK promotes nuclear export and inhibits the transcriptional activity. In response to growth factors, phosphorylation on Thr-24, Ser-256 and Ser-322 by PKB/AKT1 promotes nuclear export and inactivation of transactivational activity. Phosphorylation on Thr-24 is required for binding 14-3-3 proteins. Phosphorylation of Ser-256 decreases DNA-binding activity and promotes the phosphorylation of Thr-24 and Ser-319, permitting phosphorylation of Ser-322 and Ser-325, probably by CDK1, leading to nuclear exclusion and loss of function. Stress signals, such as response to oxygen or nitric oxide, attenuate the PKB/AKT1-mediated phosphorylation leading to nuclear retention. Phosphorylation of Ser-329 is independent of IGF1 and leads to reduced function. Dephosphorylated on Thr-24 and Ser-256 by PP2A in beta-cells under oxidative stress leading to nuclear retention (By similarity). Phosphorylation of Ser-249 by CDK1 disrupts binding of 14-3-3 proteins leading to nuclear accumulation and has no effect on DNA-binding nor transcriptional activity. Phosphorylation by STK4/MST1 on Ser-212, upon oxidative stress, inhibits binding to 14-3-3 proteins and nuclear export. PPIA/CYPA promotes its dephosphorylation on Ser-256 (PubMed:31063815).
messages: The gene represented in this entry may be involved in disease pathogenesis. Chromosomal aberrations involving FOXO1 are found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with PAX3 and translocation t(1;13)(p36;q14) with PAX7. The resulting protein is a transcriptional activator.
messages: Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress (PubMed:10358076, PubMed:12228231, PubMed:15220471, PubMed:15890677, PubMed:18356527, PubMed:19221179, PubMed:20543840, PubMed:21245099). Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3' (PubMed:10358076). Activity suppressed by insulin (PubMed:10358076). Main regulator of redox balance and osteoblast numbers and controls bone mass (By similarity). Orchestrates the endocrine function of the skeleton in regulating glucose metabolism (By similarity). Also acts as a key regulator of chondrogenic commitment of skeletal progenitor cells in response to lipid availability: when lipids levels are low, translocates to the nucleus and promotes expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Acts synergistically with ATF4 to suppress osteocalcin/BGLAP activity, increasing glucose levels and triggering glucose intolerance and insulin insensitivity (By similarity). Also suppresses the transcriptional activity of RUNX2, an upstream activator of osteocalcin/BGLAP (By similarity). Acts as an inhibitor of glucose sensing in pancreatic beta cells by acting as a transcription repressor and suppressing expression of PDX1 (By similarity). In hepatocytes, promotes gluconeogenesis by acting together with PPARGC1A and CEBPA to activate the expression of genes such as IGFBP1, G6PC1 and PCK1 (By similarity). Also promotes gluconeogenesis by directly promoting expression of PPARGC1A and G6PC1 (PubMed:17024043). Important regulator of cell death acting downstream of CDK1, PKB/AKT1 and STK4/MST1 (PubMed:18356527, PubMed:19221179). Promotes neural cell death (PubMed:18356527). Mediates insulin action on adipose tissue (By similarity). Regulates the expression of adipogeni…
messages: Ubiquitinated by SKP2. Ubiquitination leads to proteasomal degradation.
messages: Ubiquitous.

9606:LIMS1
gene id: 9606:LIMS1
uniprot id: P48059
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Involved in the regulation of cell survival, cell proliferation and cell differentiation.
messages: Cell membrane
messages: Expressed in most tissues except in the brain.
messages: Interacts (via LIM zinc-binding 5) with TGFB1I1 (By similarity). Interacts with integrin-linked protein kinase 1 (ILK) via the first LIM domain, and in competition with LIMS2. Part of the heterotrimeric IPP complex composed of integrin-linked kinase (ILK), LIMS1 or LIMS2, and PARVA. Interacts with SH3/SH2 adapter NCK2, thereby linking the complex to cell surface receptors.
messages: focal adhesion

9606:SRI
gene id: 9606:SRI
uniprot id: P30626
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Calcium-binding protein that modulates excitation-contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels.
messages: Cytoplasm
messages: Detected in cardiac myocytes.
messages: Homodimer. Interacts with GCA, RYR2 and ANXA7.
messages: Sarcoplasmic reticulum membrane
messages: This protein has been shown to bind calcium with high affinity.
messages: This protein is encoded by an amplified gene in multidrug-resistant cells.

9606:SLC6A13
gene id: 9606:SLC6A13
uniprot id: Q9NSD5
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily.
messages: Cell membrane
messages: Expressed in brain, kidney, lung, liver and testis.
messages: GABA transport is inhibited by beta-alanine, 2,3-diaminopropionic acid and SNAP-5114.
messages: Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA) (PubMed:17502375, PubMed:22932902). Mediates transport of beta-alanine (PubMed:17502375). Can also mediate transport of taurine and hypotaurine (By similarity).

9606:CADPS2
gene id: 9606:CADPS2
uniprot id: Q86UW7
names: Domain
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity).
messages: Chimera.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasmic vesicle membrane
messages: Homodimer (By similarity). Interacts with the dopamine receptor DRD2.
messages: Synapse
messages: The PH domain is essential for regulated exocytosis and binds phospholipids.
messages: Widely expressed. Expressed in all adult and fetal tissues examined, with the strongest expression in kidney and pancreas. In brain, it is expressed at high levels in cerebellum, to a lesser degree in cerebral cortex, occipital pole, and frontal and temporal lobes. Only weakly expressed in medulla, spinal cord and putamen.

9606:SMARCD3
gene id: 9606:SMARCD3
uniprot id: A0A090N8Z9
uniprot id: Q6STE5
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the SMARCD family.
messages: Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (Probable). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:22952240, PubMed:26601204). Interacts with SMARCA4/BRG1/BAF190A (PubMed:14701856). Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, S…
messages: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Stimulates nuclear receptor mediated transcription. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).
messages: Isoform 2 and isoform 1 are expressed in brain, heart, kidney, placenta, prostate, salivary gland, spleen, testis, thyroid, trachea and uterus. Isoform 1 is also expressed in skeletal muscle and adipose tissue.
messages: Nucleus
messages: The sequence shown here is derived from an EMBL/GenBank/DDBJ whole genome shotgun (WGS) entry which is preliminary data.

9606:GPATCH11
gene id: 9606:GPATCH11
uniprot id: Q8N954
names: Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the GPATCH11 family.
messages: It is uncertain whether Met-1 or Met-27 is the initiator.
messages: kinetochore

9606:MB
gene id: 9606:MB
uniprot id: A0A1K0FU49
uniprot id: P02144
names: Function
names: Similarity
messages: Belongs to the globin family.
messages: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.

9606:RRBP1
gene id: 9606:RRBP1
uniprot id: Q9P2E9
names: Function
names: Subcellular Location Annotation
messages: Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.
messages: Endoplasmic reticulum membrane

9606:WNT7A
gene id: 9606:WNT7A
uniprot id: O00755
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Wnt family.
messages: Expression is restricted to placenta, kidney, testis, uterus, fetal lung, and fetal and adult brain.
messages: Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity (PubMed:26902720). The complex with AFM may represent the physiological form in body fluids (PubMed:26902720). Interacts with FZD5 (By similarity). Interacts with PORCN (By similarity). Interacts (via intrinsically disordered linker region) with RECK; interaction with RECK confers ligand selectivity for Wnt7 in brain endothelial cells and allows these cells to selectively respond to Wnt7 (PubMed:30026314).
messages: Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development (PubMed:16826533). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal neural stem cell proliferation in the hippocampus dentate gyrus (By similarity). Required for normal progress through the cell cycle in neural progenitor cells, for self-renewal of neural stem cells, and for normal neuronal differentiation and maturation (By similarity). Promotes formation of synapses via its interaction with FZD5 (By similarity).
messages: Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The intrinsically disordered linker region is required for recognition by RECK in brain endothelial cells.
messages: extracellular matrix

9606:UBE2V1
gene id: 9606:UBE2V1
uniprot id: Q13404
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: Down-regulated during differentiation of cultured colon adenocarcinoma cells.
messages: Has no ubiquitin ligase activity on its own. The UBE2V1-UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF-kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate 'Lys-63'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes. Together with RNF135 and UBE2N, catalyzes the viral RNA-dependent 'Lys-63'-linked polyubiquitination of RIGI to activate the downstream signaling pathway that leads to interferon beta production (PubMed:31006531). UBE2V1-UBE2N together with TRAF3IP2 E3 ubiquitin ligase mediate 'Lys-63'-linked polyubiquitination of TRAF6, a component of IL17A-mediated signaling pathway.
messages: Heterodimer with UBE2N (PubMed:11057907, PubMed:16307917, PubMed:16893187). Interacts (UBE2V2-UBE2N heterodimer) with the E3 ligase STUB1 (via the U-box domain); the complex has a specific 'Lys-63'-linked polyubiquitination activity (PubMed:16307917). Interacts with TRAF6 (PubMed:11057907, PubMed:16307917).
messages: Highly expressed in thyroid, pancreas, spinal cord, lymph node, trachea, adrenal gland, bone marrow and pancreas. Detected at low levels in heart, breast, placenta, brain, liver, kidney, stomach and lung.
messages: In human, PESD1/KUA and UBE2V1/UEV1 are adjacent genes which can produce independent proteins and can also be fused to form a PESD1-UBE2V1 hybrid protein.
messages: Nucleus

9606:ATAT1
gene id: 9606:ATAT1
uniprot id: A0A1U9X797
uniprot id: B7Z4Q7
uniprot id: Q5SQI0
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Autoacetylation strongly increases tubulin acetylation.
messages: Belongs to the acetyltransferase ATAT1 family.
messages: Component of the BBSome complex. Interacts with AP2 alpha-adaptins, including AP2A2, but not with AP1 gamma-adaptin (AP1G1/AP1G2); this interaction is required for efficient alpha-tubulin acetylation, hence clathrin-coated pits are sites of microtubule acetylation.
messages: Cytoplasm
messages: Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dynamically unstable microtubules before the enzyme is released. Required for normal sperm flagellar function. Promotes directional cell locomotion and chemotaxis, through AP2A2-dependent acetylation of alpha-tubulin at clathrin-coated pits that are concentrated at the leading edge of migrating cells. May facilitate primary cilium assembly.
messages: axon
messages: clathrin-coated pit
messages: cytoskeleton
messages: focal adhesion
messages: spindle

9606:GYPB
gene id: 9606:GYPB
uniprot id: P06028
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
messages: Along with GYPA, GYPB is responsible for the MNS blood group system. The molecular basis of the S/s blood group antigen is a single variation in position 48; Thr-48 corresponds to s=MSN4 and Met-48 to S=MNS3.
messages: Belongs to the glycophorin-A family.
messages: Cell membrane
messages: The N-terminal extracellular domain is heavily glycosylated on serine and threonine residues.
messages: This protein is a minor sialoglycoprotein in erythrocyte membranes.

9606:NECTIN2
gene id: 9606:NECTIN2
uniprot id: Q92692
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Acts as a receptor for herpes simplex virus 1 (HHV-1) mutant Rid1, herpes simplex virus 1 (HHV-2) and pseudorabies virus (PRV).
messages: (Microbial infection) Interacts with herpes simplex virus 1 (HHV-1) mutant Rid1, herpes simplex virus 1 (HHV-2) and pseudorabies virus (PRV) envelope glycoprotein D (PubMed:11602758, PubMed:9657005).
messages: Belongs to the nectin family.
messages: Can form trans-heterodimers with NECTIN3 (By similarity). Interacts with CD226 or with PVRIG; these interactions are competitive and have a differential functional outcome on T-cell activation, either positive or negative, respectively. Binds with low affinity to TIGIT.
messages: Cell membrane
messages: Modulator of T-cell signaling. Can be either a costimulator of T-cell function, or a coinhibitor, depending on the receptor it binds to. Upon binding to CD226, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Upon interaction with PVRIG, inhibits T-cell proliferation. These interactions are competitive (PubMed:26755705). Probable cell adhesion protein (PubMed:9657005).
messages: Ubiquitous.

9606:TRIAP1
gene id: 9606:TRIAP1
uniprot id: O43715
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRIAP1/MDM35 family.
messages: In p53/TP53-dependent manner in response to low levels of DNA damage. Not induced when DNA damage is severe.
messages: Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane (PubMed:23931759). Likewise, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes (in vitro) and probably functions as a PA transporter across the mitochondrion intermembrane space (in vivo) (PubMed:26071602). Mediates cell survival by inhibiting activation of caspase-9 which prevents induction of apoptosis (PubMed:15735003).
messages: Mitochondrion
messages: Mitochondrion intermembrane space
messages: Monomer (PubMed:26071602). Interacts with APAF1 and HSP70 (PubMed:15735003). Forms a complex with PRELID1 in the mitochondrion intermembrane space (PubMed:23931759). Interacts with PRELID3A (PubMed:26071602).

9606:NDFIP2
gene id: 9606:NDFIP2
uniprot id: B4DGY6
uniprot id: Q9NV92
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus and multivesicular body where it mediates KCNH2 degradation (PubMed:26363003). May modulate EGFR signaling. Together with NDFIP1, limits the cytokine signaling and expansion of effector Th2 T-cells by promoting degradation of JAK1, probably by ITCH- and NEDD4L-mediated ubiquitination (By similarity).
messages: By T-cell activation.
messages: Endosome membrane
messages: Expressed in brain, lung, heart, skeletal muscle, kidney, liver and placenta.
messages: Forms heterodimers with NDFIP1. Interacts with HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4 (PubMed:12796489). Interacts with NEDD4L (PubMed:26363003). Interacts with PTEN. When phosphorylated at Tyr-167, interacts with SRC and LYN SH2 domain. May thus act as a scaffold that recruits SRC to NDFIP1, enhancing NDFIP1 phosphorylation. Interacts with SLC11A2/DMT1 (PubMed:18776082). May interact with phosphorylated EGFR. Interacts with KCNH2 (PubMed:26363003).
messages: Golgi apparatus membrane
messages: Membrane
messages: The PPxY motifs are required for E3 ubiquitin-protein ligase activation and for ubiquitination.
messages: Ubiquitinated by NEDD4 and ITCH. Also ubiquitinated by NEDD4L. Ubiquitination by NEDD4 or NEDD4L does not affect turnover (By similarity).
messages: Undergoes transient tyrosine-phosphorylation following EGF stimulation, most probably catalyzed by SRC. Phosphorylation on Tyr-151, Tyr-171 and Tyr-177 are dependent on the phosphorylation on Tyr-167. Also phosphorylated by LYN and FYN.
messages: multivesicular body membrane

9606:ISL2
gene id: 9606:ISL2
uniprot id: Q96A47
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with LHX4.
messages: Nucleus
messages: Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways.

9606:PDLIM7
gene id: 9606:PDLIM7
uniprot id: Q9NR12
names: Domain
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Anchored to cell periphery via its N-terminal PDZ domain.
messages: Binds via its LIM zinc-binding 3 domain (LIM 3) to endocytic codes of INSR, but not with those of IGF1R, LDLR, TFRC, or EGFR. Interacts with various PKC isoforms through the LIM zinc-binding domains. Binds to RET in a phosphorylation-independent manner via its LIM zinc-binding domain 2 (LIM 2). Probably part of a complex with SHC and the RET dimer. Interacts with TPM2. Interacts with TBX4 and TBX5 (By similarity).
messages: Cytoplasm
messages: Did not induce bone induction.
messages: Isoform 1 and isoform 2 are expressed ubiquitously, however, isoform 2 predominates in skeletal muscle, isoform 1 is more abundant in lung, spleen, leukocytes and fetal liver.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity).
messages: Same activity as isoform 1 in bone nodule induction.
messages: The LIM zinc-binding 2 (LIM 2) domain interacts with TBX4.
messages: The LIM zinc-binding 3 (LIM 3) domain provides the structural basis for recognition of tyrosine-containing tight turn structures. This domain is necessary and sufficient for interaction with TBX5 (By similarity).
messages: cytoskeleton

9606:NCBP2
gene id: 9606:NCBP2
uniprot id: B3KSB0
uniprot id: P52298
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RRM NCBP2 family.
messages: Component of the cap-binding complex (CBC), which binds co-transcriptionally to the 5' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5' end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC complex is also involved in mediating U snRNA and intronless mRNAs export from the nucleus. The CBC complex is essential for a pioneer round of mRNA translation, before steady state translation when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. The pioneer round of mRNA translation mediated by the CBC complex plays a central role in nonsense-mediated mRNA decay (NMD), NMD only taking place in mRNAs bound to the CBC complex, but not on eIF4E-bound mRNAs. The CBC complex enhances NMD in mRNAs containing at least one exon-junction complex (EJC) via its interaction with UPF1, promoting the interaction between UPF1 and UPF2. The CBC complex is also involved in 'failsafe' NMD, which is independent of the EJC complex, while it does not participate in Staufen-mediated mRNA decay (SMD). During cell proliferation, the CBC complex is also involved in microRNAs (miRNAs) biogenesis via its interaction with SRRT/ARS2, thereby being required for miRNA-mediated RNA interference. The CBC complex also acts as a negative regulator of PARN, thereby acting as an inhibitor of mRNA deadenylation. In the CBC complex, NCBP2/CBP20 recognizes and binds capped RNAs (m7GpppG-capped RNA) but requires NCBP1/CBP80 to stabilize the movement of its N-terminal loop and lock the CBC into a high affinity cap-binding state with the cap structure. The conventional cap-binding complex with NCBP2 binds both small nuclear RNA (snRNA) and me…
messages: Component of the cap-binding complex (CBC), which binds co-transcriptionally to the 5' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus, leading to the recruitment of the mRNA export machinery to the 5' end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC complex is also involved in mediating U snRNA and intronless mRNAs export from the nucleus. The CBC complex is essential for a pioneer round of mRNA translation, before steady state translation when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. The pioneer round of mRNA translation mediated by the CBC complex plays a central role in nonsense-mediated mRNA decay (NMD), NMD only taking place in mRNAs bound to the CBC complex, but not on eIF4E-bound mRNAs. The CBC complex enhances NMD in mRNAs containing at least one exon-junction complex (EJC), promoting the interaction between upf1 and upf2. The CBC complex is also involved in 'failsafe' NMD, which is independent of the EJC complex, while it does not participate in Staufen-mediated mRNA decay (SMD). During cell proliferation, the CBC complex is also involved in microRNAs (miRNAs) biogenesis via its interaction with srrt/ars2, thereby being required for miRNA-mediated RNA interference. The CBC complex also acts as a negative regulator of parn, thereby acting as an inhibitor of mRNA deadenylation. In the CBC complex, ncbp2/cbp20 recognizes and binds capped RNAs (m7GpppG-capped RNA) but requires ncbp1/cbp80 to stabilize the movement of its N-terminal loop and lock the CBC into a high affinity cap-binding state with the cap structure. The conventional cap-binding complex with NCBP2 binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus.
messages: Component of the nuclear cap-binding complex (CBC), a heterodimer composed of NCBP1/CBP80 and NCBP2/CBP20 that interacts with m7GpppG-capped RNA (PubMed:26382858). Found in a U snRNA export complex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20, RAN, XPO1 and m7G-capped RNA. Interacts with PHAX/RNUXA, EIF4G1, HNRNPF, HNRNPH1 and ALYREF/THOC4/ALY. Interacts with SRRT/ARS2 and KPNA3 (PubMed:26382858).
messages: Component of the nuclear cap-binding complex (CBC), a heterodimer composed of ncbp1/cbp80 and ncbp2/cbp20 that interacts with m7GpppG-capped RNA.
messages: Cytoplasm
messages: Nucleus

9606:ZKSCAN8
gene id: 9606:ZKSCAN8
uniprot id: A0A024RCK7
uniprot id: Q15776
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:CIAO2A
gene id: 9606:CIAO2A
uniprot id: Q9H5X1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the MIP18 family.
messages: Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:23891004). As a CIA complex component and in collaboration with CIAO1 specifically matures ACO1 and stabilizes IREB2, connecting cytosolic iron-sulfur protein maturation with cellular iron regulation (PubMed:23891004). May play a role in chromosome segregation through establishment of sister chromatid cohesion. May induce apoptosis in collaboration with APAF1 (PubMed:25716227).
messages: Cytoplasm
messages: Monomer and homodimer (PubMed:22683786). Component of the CIA complex (PubMed:23891004). Interacts with CIAO1 (PubMed:23891004, PubMed:22683786). Interacts with IREB2 (PubMed:23891004). Interacts with APAF1 (PubMed:25716227).
messages: Substantially enriched in macrophages.

9606:CILP
gene id: 9606:CILP
uniprot id: O75339
names: Caution
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Antibodies against CILP are detected in patients with early-stage knee osteoarthritis and rheumatoid arthritis.
messages: Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Monomer. Interacts with TGFB1.
messages: Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage.
messages: Specifically expressed in cartilage. Localizes in the intermediates layer of articular cartilage but neither in the superficial nor in the deepest regions. Specifically and highly expressed in intervertebral disk tissue. Expression increases with aging in hip articular cartilage. Overexpressed in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease (CPPD). Expression in intervertebral disk tissue from individuals with lumbar disk disease increases as disk degeneration progresses.
messages: Was originally thought to constitute the ATP pyrophosphatase enzyme (NTPPH). However, it was later shown (PubMed:12746903 and PubMed:15864306) that it is not the case.
messages: extracellular matrix

9606:CCDC144A
gene id: 9606:CCDC144A
uniprot id: A2RUR9
names: Function
names: Similarity
messages: Belongs to the CCDC144 family.
messages: May play a role in preventing the formation of kidney stones through inhibition of calcium oxalate monohydrate (COM) crystallization, attenuating COM-induced apoptotic injury to renal epithelial cells (PubMed:32991878). May exhibit antilithiatic (preventing the formation of kidney stones) activity through crystal binding, hindering the crystal attachment to renal epithelial cells, a pre-requisite to initiate inflammatory response (PubMed:32991878).

9606:EVL
gene id: 9606:EVL
uniprot id: A0A024R6K5
uniprot id: Q9UI08
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Ena/VASP family.
messages: Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization.
messages: Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration.
messages: Homotetramer (By similarity). Binds to the SH3 domains of ABL1, LYN and SRC. Also binds to profilin, with preference for isoform IIa of PFN2, and the WW domain of APBB1/FE65. Binds to SEMA6A. Interacts, via the Pro-rich region, with the C-terminal SH3 domain of DNMBP. Interacts with RAPH1. Binds, via the EVH1 domain, the Pro-rich domain of Listeria monocytogenes actA (By similarity). Binds, via the EVH1 domain, the Pro-rich domain of ZYX. Interacts with FYB1 (PubMed:10747096). Interacts with ZDHHC17 (PubMed:28882895).
messages: Phosphorylated by PKA; phosphorylation abolishes binding to SH3 domains of ABL and SRC.
messages: Required to transform actin polymerization into active movement for the propulsive force of Listeria monocytogenes.
messages: The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding. The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is required for F-actin binding and subcellular location, and Block C for tetramerization.
messages: cytoskeleton
messages: lamellipodium
messages: stress fiber

9606:TCEA1
gene id: 9606:TCEA1
uniprot id: A0A384MTX4
uniprot id: B7Z4W0
uniprot id: P23193
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A chromosomal aberration involving TCEA1 may be a cause of salivary gland pleiomorphic adenomas (PA) [181030]. Pleiomorphic adenomas are the most common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with PLAG1.
messages: Belongs to the TFS-II family.
messages: Interacts with EAF2 (By similarity). Associates with UBR5 and forms a transcription regulatory complex made of CDK9, RNAP II, UBR5 and TFIIS/TCEA1 that can stimulate target gene transcription (e.g. gamma fibrinogen/FGG) by recruiting their promoters.
messages: Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus.
messages: Nucleus
messages: S-II binds to RNA-polymerase II in the absence of transcription.

9606:PPM1E
gene id: 9606:PPM1E
uniprot id: Q8WY54
names: Cofactor
names: Function
names: Polymorphism
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the PP2C family.
messages: Binds 2 magnesium or manganese ions per subunit.
messages: Contains a 27 bp insertion which does not match the genome.
messages: Cytoplasm
messages: Heterotrimer. Interacts with PAX1 and ARHGEF6 (or ARHGEF7).
messages: Nucleus
messages: Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2 (By similarity). Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. Dephosphorylates PRKAA2 (By similarity).
messages: The poly-Pro-Glu stretch is polymorphic.

9606:ITPRIPL2
gene id: 9606:ITPRIPL2
uniprot id: Q3MIP1
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ITPRIP family.
messages: Membrane

9606:MMP13
gene id: 9606:MMP13
uniprot id: P45452
uniprot id: Q53H33
names: Activity Regulation
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase M10A family.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Can bind about 5 Ca(2+) ions per subunit.
messages: Detected in fetal cartilage and calvaria, in chondrocytes of hypertrophic cartilage in vertebrae and in the dorsal end of ribs undergoing ossification, as well as in osteoblasts and periosteal cells below the inner periosteal region of ossified ribs. Detected in chondrocytes from in joint cartilage that have been treated with TNF and IL1B, but not in untreated chondrocytes. Detected in T lymphocytes. Detected in breast carcinoma tissue.
messages: Inhibited by TIMP1, TIMP2 and TIMP3. Inhibited by acetohydroxamic acid and other zinc chelators.
messages: Monomer. Interacts with TIMP1, TIMP2 and TIMP3. Binds (via the C-terminal region) to collagen.
messages: N-glycosylated.
messages: Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CCN2. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CCN2. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion.
messages: Secreted
messages: The C-terminal region binds to collagen.
messages: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The proenzyme is activated by removal of the propeptide; this cleavage can be effected by other matrix metalloproteinases, such as MMP2, MMP3 and MMP14 and may involve several cleavage steps. Cleavage can also be autocatalytic, after partial maturation by another protease or after treatment with 4-aminophenylmercuric acetate (APMA) (in vitro).
messages: Tyrosine phosphorylated by PKDCC/VLK.
messages: Up-regulated by TNF and IL1B.
messages: extracellular matrix

9606:PITX1
gene id: 9606:PITX1
uniprot id: P78337
uniprot id: X5D9A5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the paired homeobox family. Bicoid subfamily.
messages: Interacts with POU1F1 (PubMed:26612202).
messages: Nucleus
messages: Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving the PITX1 locus results in LBNBG. Translocation t(5;18)(q31.1;q12.3). Additionally, two chromosome 5 deletions located 5'of PITX1 have been found in LBNBG patients. These structural variations cause altered expression of PITX1 in the forelimb via the activation of ectopic enhancers (PubMed:23022097).

9606:HS3ST6
gene id: 9606:HS3ST6
uniprot id: Q96QI5
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the sulfotransferase 1 family.
messages: Golgi apparatus membrane
messages: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes Simplex Virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate.
messages: The disease may be caused by variants affecting the gene represented in this entry.

9606:DENND4C
gene id: 9606:DENND4C
uniprot id: Q5VZ89
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
messages: Cell membrane
messages: Cytoplasmic vesicle membrane
messages: Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin.
messages: Phosphorylated in response to insulin.
messages: Probable cloning artifact.
messages: cytosol

9606:CEP104
gene id: 9606:CEP104
uniprot id: O60308
names: Disease Annotation
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
messages: Contaminating sequence. Potential poly-A sequence.
messages: Interacts with CCP110 and CEP97. Interacts with ARMC9, TOGARAM1, CCDC66 and CSPP1 (PubMed:32453716).
messages: Required for ciliogenesis and for structural integrity at the ciliary tip.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centriole
messages: centrosome
messages: cilium
messages: spindle pole

9606:PSD3
gene id: 9606:PSD3
uniprot id: B3KRC4
uniprot id: Q9NYI0
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Guanine nucleotide exchange factor for ARF6.
messages: Isoform 2 is expressed in epididymis (at protein level).
messages: Postsynaptic density
messages: ruffle membrane

9606:CEP20
gene id: 9606:CEP20
uniprot id: I3L2N4
uniprot id: I3L4V2
uniprot id: Q96NB1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CEP43 family.
messages: Cytoplasmic granule
messages: Homooligomer; probably required for localization to centrosomes (PubMed:20551181). Forms a complex with KIAA0753/OFIP and OFD1; within this complex may stabilize the interaction between OFD1 and KIAA0753/OFIP (PubMed:26643951). Interacts with PCM1; this interaction may be mediated by KIAA0753/OFIP (PubMed:26643951). Interacts with PLK1 in later G1, S, G2 and M phases of the cell cycle; this interaction recruits PLK1 to centrosomes (PubMed:24018379).
messages: Involved in the biogenesis of cilia (PubMed:20551181). Required for the recruitment of PLK1 to centrosomes and S phase progression (PubMed:24018379).
messages: Widely expressed. Detected in brain, heart, kidney, liver, lung, skeletal muscle, placenta and intestine.
messages: centriolar satellite
messages: centriole
messages: centrosome
messages: cilium
messages: cilium basal body

9606:MCTS1
gene id: 9606:MCTS1
uniprot id: Q9ULC4
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Anti-oncogene that plays a role in cell cycle regulation; decreases cell doubling time and anchorage-dependent growth; shortens the duration of G1 transit time and G1/S transition. When constitutively expressed, increases CDK4 and CDK6 kinases activity and CCND1/cyclin D1 protein level, as well as G1 cyclin/CDK complex formation. Involved in translation initiation; promotes recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Plays a role as translation enhancer; recruits the density-regulated protein/DENR and binds to the cap complex of the 5'-terminus of mRNAs, subsequently altering the mRNA translation profile; up-regulates protein levels of BCL2L2, TFDP1, MRE11, CCND1 and E2F1, while mRNA levels remains constant. Hyperactivates DNA damage signaling pathway; increased gamma-irradiation-induced phosphorylation of histone H2AX, and induces damage foci formation. Increases the overall number of chromosomal abnormalities such as larger chromosomes formation and multiple chromosomal fusions when overexpressed in gamma-irradiated cells. May play a role in promoting lymphoid tumor development: lymphoid cell lines overexpressing MCTS1 exhibit increased growth rates and display increased protection against apoptosis. May contribute to the pathogenesis and progression of breast cancer via promotion of angiogenesis through the decline of inhibitory THBS1/thrombospondin-1, and inhibition of apoptosis. Involved in the process of proteasome degradation to down-regulate Tumor suppressor p53/TP53 in breast cancer cell; Positively regulates phosphorylation of MAPK1 and MAPK3. Involved in translation initiation; promotes aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-t…
messages: Belongs to the MCTS1 family.
messages: By DNA damaging agents such as gamma irradiation, adriamycin or taxol in lymphoid cells, but not by stress stimuli such as heat shock. This induction of protein expression does not occur at the RNA level, and does not require new protein synthesis.
messages: Cytoplasm
messages: Interacts (via PUA domain) with DENR.
messages: Phosphorylation is critical for stabilization and promotion of cell proliferation.
messages: The PUA RNA-binding domain is critical for cap binding, but not sufficient for translation enhancer function. MCT1 N-terminal region is required to enhance translation possibly through interaction with other proteins.
messages: Ubiquitous. Over-expressed in T-cell lymphoid cell lines and in non-Hodgkin lymphoma cell lines as well as in a subset of primary large B-cell lymphomas.

9606:PCDHB2
gene id: 9606:PCDHB2
uniprot id: Q9Y5E7
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:CCL24
gene id: 9606:CCL24
uniprot id: O00175
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activated monocytes and activated T lymphocytes.
messages: Belongs to the intercrine beta (chemokine CC) family.
messages: Chemotactic for resting T-lymphocytes, and eosinophils (PubMed:9104803, PubMed:9365122). Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes (PubMed:9104803, PubMed:9365122). Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line (PubMed:9104803, PubMed:9365122). Binds to CCR3 (PubMed:9104803, PubMed:9365122).
messages: N-glycosylated.
messages: Secreted

9606:FUT6
gene id: 9606:FUT6
uniprot id: P51993
uniprot id: Q6P7E6
names: Function
names: PTM
names: Polymorphism
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 10 family.
messages: Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl glucosamine (GlcNAc) of a distal alpha2,3 sialylated lactosamine unit of a glycoprotein- or a glycolipid-linked sialopolylactosamines chain or of a distal or internal lactosamine unit of a neutral glycoprotein- or a glycolipid-linked polylactosamines chain through an alpha-1,3 glycosidic linkage and participates in surface expression of the sialyl Lewis X (sLe(x)), Lewis X (Le(x)) and non sialylated VIM2 determinants (PubMed:9451035, PubMed:1520296, PubMed:1339443, PubMed:7650030, PubMed:17604274, PubMed:9363434, PubMed:10728707, PubMed:29593094). Moreover transfers fucose to H-type 2 (Fucalpha1-2Galbeta1-4GlcNAc) chain acceptor substrates and participates in difucosylated sialyl Lewis x determinants (PubMed:17604274, PubMed:1339443). Also fucosylates a polylactosamine substrate having a 6 sulfate modification at the GlcNAc moiety and gives rise to sialyl and non-sialyl 6-sulfo lewis X (PubMed:10728707). Does not have activity towards type 1 ((Galbeta1-3GlcNAc)) and H-type 1 chain (Fucalpha1-2Galbeta1-3GlcNAc) acceptors substrates (PubMed:1339443, PubMed:17604274, PubMed:9363434).
messages: Does not have alpha(1,3)-fucosyltransferase activity.
messages: Expression of alpha(1,3)-fucosyltransferase in plasma can vary among different populations. 9% of individuals on the isle of Java (Indonesia) do not express this enzyme. Ninety-five percent of plasma alpha(1,3)-fucosyltransferase-deficient individuals have Lewis negative phenotype on red cells, suggesting strong linkage disequilibrium between these two traits. Variations in FUT6 are responsible for plasma alpha(1,3)-fucosyltransferase deficiency [MIM:613852].
messages: Golgi apparatus
messages: Golgi stack membrane
messages: Homodimer and monomer (PubMed:9451035). Monomer (secreted form) (PubMed:9451035).
messages: Kidney, liver, colon, small intestine, bladder, uterus and salivary gland.
messages: Membrane
messages: N-glycosylated.
messages: Probable cloning artifact.
messages: Proteolytic cleavage releases a secreted glycoform of 43 kDa.
messages: Secreted

9606:CCDC110
gene id: 9606:CCDC110
uniprot id: Q8TBZ0
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed specifically in testis. Also expressed in tumors of different origins.
messages: Nucleus

9606:SNX22
gene id: 9606:SNX22
uniprot id: Q96L94
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with P.falciparum (strain 3D7) CK1.
messages: Belongs to the sorting nexin family.
messages: Cytoplasmic vesicle membrane
messages: Expressed in erythrocytes (at protein level).
messages: May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:17400918).
messages: The PX domain mediates specific binding to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)).

9606:AKR1B1
gene id: 9606:AKR1B1
uniprot id: A0A024R7A8
uniprot id: P15121
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the aldo/keto reductase family.
messages: Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosacharides, bile acids and xenobiotics substrates. Key enzyme in the polyol pathway, catalyzes reduction of glucose to sorbitol during hyperglycemia (PubMed:1936586). Reduces steroids and their derivatives and prostaglandins. Displays low enzymatic activity toward all-trans-retinal, 9-cis-retinal, and 13-cis-retinal (PubMed:12732097, PubMed:19010934, PubMed:8343525). Catalyzes the reduction of diverse phospholipid aldehydes such as 1-palmitoyl-2-(5-oxovaleroyl)-sn -glycero-3-phosphoethanolamin (POVPC) and related phospholipid aldehydes that are generated from the oxydation of phosphotidylcholine and phosphatdyleethanolamides (PubMed:17381426). Plays a role in detoxifying dietary and lipid-derived unsaturated carbonyls, such as crotonaldehyde, 4-hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal and their glutathione-conjugates carbonyls (GS-carbonyls) (PubMed:21329684).
messages: Cys-299 may regulate the kinetic and inhibition properties of the enzyme, but does not participate in catalysis (PubMed:8343525). Tolrestat inhibits retinal reduction (PubMed:12732097).
messages: Cytoplasm
messages: Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress.
messages: Monomer.

9606:UBE2A
gene id: 9606:UBE2A
uniprot id: A0A0D9SG71
uniprot id: P49459
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA.
messages: Belongs to the ubiquitin-conjugating enzyme family.
messages: Interacts with RAD18 and WAC (PubMed:21329877). Interacts with RFPL4A and CCNB1 (By similarity).
messages: Phosphorylation at Ser-120 by CDK9 increases activity towards histone H2B.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SCML4
gene id: 9606:SCML4
uniprot id: B4E0X3
uniprot id: Q8N228
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the SCM family.
messages: Nucleus
messages: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity).

9606:FLII
gene id: 9606:FLII
uniprot id: Q13045
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Interacts with actin, ACTL6A, NCOA2, CARM1 and MYD88. Interacts with LRRFIP1 and LRRFIP2. Upon LPS stimulation, LRRFIP2 competes for MYD88-binding. LRRFIP1 constitutively blocks the interaction with MyD88, even in the absence of LPS. Interacts with the nuclear receptors ESR1 and THRB. Interacts with SGK3.
messages: May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation.
messages: Nucleus
messages: Strongest expression in skeletal muscle with high expression also in the heart and lung.
messages: centrosome
messages: cytoskeleton
messages: focal adhesion

9606:ANAPC5
gene id: 9606:ANAPC5
uniprot id: F5H0F9
uniprot id: Q9UJX4
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the APC5 family.
messages: Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains.
messages: Nucleus
messages: The TPR repeats are six to seven residues longer than a canonical TPR motif.
messages: The mammalian APC/C is composed at least of 14 distinct subunits ANAPC1, ANAPC2, CDC27/APC3, ANAPC4, ANAPC5, CDC16/APC6, ANAPC7, CDC23/APC8, ANAPC10, ANAPC11, CDC26/APC12, ANAPC13, ANAPC15 and ANAPC16 that assemble into a complex of at least 19 chains with a combined molecular mass of around 1.2 MDa; APC/C interacts with FZR1 and FBXO5.
messages: spindle

9606:ZNF423
gene id: 9606:ZNF423
uniprot id: Q2M1K9
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed in brain, lung, skeletal muscle, heart, pancreas and kidney but not liver or placenta. Also expressed in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney and, within the adult brain, in the substantia nigra, medulla, amygdala, thalamus and cerebellum.
messages: Homodimer (By similarity). Interacts with EBF1 (By similarity). Interacts with SMAD1 and SMAD4. Interacts with PARP1. Interacts with CEP290.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation.
messages: Uses different DNA- and protein-binding zinc fingers to regulate the distinct BMP-Smad and Olf signaling pathways. C2H2-type zinc fingers 14-19 mediate the interaction with SMAD1 and SMAD4, while zinc fingers 28-30 mediate the interaction with EBF1. zinc fingers 2-8 bind the 5'-CCGCCC-3' DNA sequence in concert with EBF1, while zinc fingers 9-13 bind BMP target gene promoters in concert with SMADs.

9606:DIS3L
gene id: 9606:DIS3L
uniprot id: Q8TF46
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RNR ribonuclease family.
messages: Component of the RNA exosome complex. The catalytically inactive RNA exosome core (Exo-9) complex is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms.
messages: Cytoplasm
messages: Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA.

9606:MAGEA11
gene id: 9606:MAGEA11
uniprot id: P43364
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression.
messages: Cytoplasm
messages: Expressed in tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma. Expressed in testis, ovary, prostate, cancerous prostate, breast and adrenal tissue.
messages: Nucleus

9606:ZNF620
gene id: 9606:ZNF620
uniprot id: Q6ZNG0
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:KCNQ3
gene id: 9606:KCNQ3
uniprot id: O43525
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant splicing.
messages: Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability.
messages: Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily.
messages: Cell membrane
messages: Defects in KCNQ3 may be involved in epileptic disorders. These are characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system.
messages: Heterotetramer with KCNQ2; form the heterotetrameric M potassium channel (PubMed:27564677). Interacts with calmodulin; the interaction is calcium-independent, constitutive and participates in the proper assembly of a functional heterotetrameric M channel (PubMed:27564677). Heteromultimer with KCNQ5 (PubMed:11159685). May associate with KCNE2 (PubMed:11034315). Interacts with IQCJ-SCHIP1 (By similarity).
messages: KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338).
messages: Predominantly expressed in brain.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

9606:PEX3
gene id: 9606:PEX3
uniprot id: P56589
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peroxin-3 family.
messages: Found in all examined tissues.
messages: Interacts with PEX19.
messages: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.
messages: Peroxisome membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:IGSF9
gene id: 9606:IGSF9
uniprot id: Q9P2J2
names: Developmental Stage
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the immunoglobulin superfamily. Turtle family.
messages: Cell membrane
messages: Expressed in a wide variety of tissues at 8 and 14 weeks of gestation.
messages: Functions in dendrite outgrowth and synapse maturation.
messages: Interacts with MAGI2 and SHANK1.
messages: Synapse
messages: The PDZ-binding motif mediates interactions with MAGI2 and SHANK1.

9606:SETDB2
gene id: 9606:SETDB2
uniprot id: Q96T68
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily.
messages: Chromosome
messages: Contaminating sequence. Potential poly-A sequence.
messages: Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis.
messages: In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.
messages: Nucleus
messages: Ubiquitous. Highest expression in heart, testis and ovary.

9606:IGF2BP2
gene id: 9606:IGF2BP2
uniprot id: F8W930
uniprot id: Q9Y6M1
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autoantibodies against IGF2BP2 are detected in sera from some patients with hepatocellular carcinoma.
messages: Belongs to the RRM IMP/VICKZ family.
messages: Can form homooligomers and heterooligomers with IGF2BP1 and IGF2BP3 in an RNA-dependent manner (PubMed:23640942). Interacts with HNRPD (PubMed:12674497). Interacts with IGF2BP1 (PubMed:17289661). Interacts with ELAVL1, DHX9, HNRNPU, MATR3 and PABPC1 (PubMed:23640942, PubMed:29476152). Interacts with the HOXB-AS3 peptide; the interaction increases MYC stability (PubMed:34457052).
messages: Cytoplasm
messages: Domains KH3 and KH4 are the major RNA-binding modules, although KH1 and KH2 may also contribute (PubMed:29476152). The contribution to RNA-binding of individual KH domains may be target-specific. KH1 and KH2, and possibly KH3 and KH4, promote the formation of higher ordered protein-RNA complexes, which may be essential for IGF2BP1 cytoplasmic retention. KH domains are required for RNA-dependent homo- and heterooligomerization and for localization to stress granules.
messages: Expressed in oocytes, granulosa cells of small and growing follicles, Leydig cells, spermatogonia and semen (at protein level). Expressed in testicular cancer (at protein level). Expressed weakly in heart, placenta, skeletal muscle, bone marrow, colon, kidney, salivary glands, testis and pancreas. Detected in fetal liver, fetal ovary, gonocytes and interstitial cells of the testis.
messages: Generated by alternative initiation at Met-69.
messages: Nucleus
messages: P-body
messages: RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation (By similarity). Preferentially binds to N6-methyladenosine (m6A)-containing mRNAs and increases their stability (PubMed:29476152). Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs (PubMed:9891060). Binding is isoform-specific. Binds to beta-actin/ACTB and MYC transcripts. Increases MYC mRNA stability by binding to the coding region instability determinant (CRD) and binding is enhanced by m6A-modification of the CRD (PubMed:29476152).
messages: Stress granule

9606:INTS8
gene id: 9606:INTS8
uniprot id: Q75QN2
names: Developmental Stage
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the Integrator subunit 8 family.
messages: Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L and INTS12.
messages: Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes.
messages: Highly expressed in the brain in the ventricular and subventricular zones, caudal and lateral ganglionic eminences and cerebellar primordium at 16-21 postconceptional week.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CHID1
gene id: 9606:CHID1
uniprot id: Q9BWS9
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyl hydrolase 18 family.
messages: Expressed in cells of monocytic, T, B and epithelial origin.
messages: Interacts with STAB1.
messages: Lysosome
messages: Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro).
messages: Secreted
messages: Up-regulated by IL4/interleukin-4 and dexamethasone in the macrophages. Up-regulated by glucocorticoid.

9606:GCLC
gene id: 9606:GCLC
uniprot id: E1CEI4
uniprot id: P48506
uniprot id: Q14TF0
names: Activity Regulation
names: Disease Annotation
names: Function
names: Similarity
names: Subunit
messages: Belongs to the glutamate--cysteine ligase type 3 family.
messages: Catalyzes the ATP-dependent ligation of L-glutamate and L-cysteine and participates in the first and rate-limiting step in glutathione biosynthesis.
messages: Feedback inhibition by glutathione.
messages: Heterodimer of a catalytic heavy chain and a regulatory light chain.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:STN1
gene id: 9606:STN1
uniprot id: Q9H668
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the STN1 family.
messages: Cells expressing STN1 mutants defective for dimerization with TEN1 display elongated telomeres and telomere defects associated with telomere uncapping.
messages: Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22964711, PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Required for efficicient replication of the duplex region of the telomere. Promotes efficient replication of lagging-strand telomeres (PubMed:22863775, PubMed:22964711). Promotes general replication start following replication-fork stalling implicating new origin firing (PubMed:22863775). May be in involved in C-strand fill-in during late S/G2 phase independent of its role in telomere duplex replication (PubMed:23142664).
messages: Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites.
messages: Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1; in the complex interacts directly with TEN1 and CTC1. Interacts with ACD/TPP1, POT1 and POLA1.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: telomere

9606:HES6
gene id: 9606:HES6
uniprot id: Q96HZ4
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Does not bind DNA itself but suppresses both HES1-mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up-regulate transcription in its presence. Promotes cell differentiation (By similarity).
messages: Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).
messages: Nucleus
messages: The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.
messages: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts with HES1 (By similarity).

9606:AAMP
gene id: 9606:AAMP
uniprot id: Q13685
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Expressed in metastatic melanoma, liver, skin, kidney, heart, lung, lymph node, skeletal muscle and brain, and also in A2058 melanoma cells and activated T-cells (at protein level). Expressed in blood vessels. Strongly expressed in endothelial cells, cytotrophoblasts, and poorly differentiated. colon adenocarcinoma cells found in lymphatics.
messages: Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway.

9606:HSFX1
gene id: 9606:HSFX1
uniprot id: A0A140VK21
uniprot id: Q9UBD0
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the HSF family.
messages: Cytoplasm
messages: Nucleus
messages: Testis-specific.

9606:CCDC32
gene id: 9606:CCDC32
uniprot id: Q9BV29
names: Disease Annotation
names: Function
messages: Has a role in ciliogenesis (By similarity). Required for proper cephalic and left/right axis development (PubMed:32307552).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:DYDC1
gene id: 9606:DYDC1
uniprot id: Q8WWB3
names: Caution
names: Function
names: Sequence Caution
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the dpy-30 family.
messages: Brain and testis. Accumulates during late stage of spermiogenesis.
messages: Interacts with SH3GL3.
messages: Intron retention.
messages: Plays a crucial role during acrosome biogenesis.
messages: Sequence AAQ84766 was incorrectly indicated as originating from mouse.

9606:BPIFA1
gene id: 9606:BPIFA1
uniprot id: Q9NP55
names: Caution
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
messages: Highly expressed in lung, upper airways and nasopharyngeal regions, including trachea and nasal epithelium (at protein level) (PubMed:11018263, PubMed:11251963, PubMed:12409287, PubMed:11425234, PubMed:26559477). Specifically expressed in the secretory ducts and submucosal glands of tracheobronchial tissues (at protein level) (PubMed:12409287, PubMed:11425234). Also expressed in the eye where it is detected in lacrimal gland, eyelid, conjunctiva and cornea (at protein level) (PubMed:26559477). Specifically localizes to epithelial cell layers in cornea, eyelid (basal epithelium) and conjunctiva (at protein level) (PubMed:26559477). Detected within acinar cells and ducts in the lacrimal and Meibomian glands (at protein level) (PubMed:26559477). In lung, shows highest expression in the trachea and progressive decrease from proximal (bronchial) to distal (bronchiolar) airways (PubMed:12409287). Also expressed in lung cancers and some other types of cancer (PubMed:11251963).
messages: Lipid-binding protein which shows high specificity for the surfactant phospholipid dipalmitoylphosphatidylcholine (DPPC) (PubMed:25223608). Plays a role in the innate immune responses of the upper airways (PubMed:23499554, PubMed:23132494). Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae (PubMed:23499554, PubMed:23132494, PubMed:27145151). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus (PubMed:24124190, PubMed:24043776). Plays a role in the airway inflammatory response after exposure to irritants (PubMed:11425234). May attract macrophages and neutrophils (PubMed:23132494).
messages: May be N-glycosylated.
messages: Monomer. Interacts (via N-terminus) with SCNN1B, a subunit of the heterotrimeric epithelial sodium channel (ENaC); this inhibits proteolytic activation of ENaC.
messages: Reported to bind to bacterial lipopolysaccharide (LPS) in vitro (PubMed:15158712, PubMed:27145151). However, the in vivo significance of this is uncertain since other studies indicate little or no specificity for LPS (PubMed:12920053, PubMed:25223608).
messages: Secreted
messages: Up-regulated in response to all-trans retinoic acid (ATRA) (PubMed:12409287). Up-regulated in tear fluid of patients suffering from dry eye disease (PubMed:26559477). Up-regulated in response to the pro-inflammatory cytokines IL1B and TNF, and the bacteria E.coli and P.aeruginosa (PubMed:26559477).

9606:MAP3K20
gene id: 9606:MAP3K20
uniprot id: Q9NYL2
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by phosphorylation by PKN1, followed by autophosphorylation on Thr-161 and Ser-165 (PubMed:12220515, PubMed:12761180, PubMed:15342622, PubMed:26999302). Autophosphorylation in response to ribotoxic stress promotes dissociation from colliding ribosomes and activation (PubMed:32610081, PubMed:32289254).
messages: Activated in response to stress, such as ribosomal stress, osmotic shock and ionizing radiation (PubMed:11042189, PubMed:12761180, PubMed:15342622, PubMed:32289254, PubMed:32610081). Activated by phosphorylation by PKN1, followed by autophosphorylation on Thr-161 and Ser-165 (PubMed:11042189, PubMed:12220515, PubMed:12761180, PubMed:15342622, PubMed:26999302). Inhibited by nilotinib, sorafenib, dabrafenib, rebastinib and vemurafenib (PubMed:26999302). Selectively inhibited by N-(3)-((1H-Pyrazolo[3,4-b]pyridin-5-yl)ethynyl)benzenesulfonamide compound 3h (PubMed:28586211). Selectively inhibited by 1,2,3-triazole benzenesulfonamides (PubMed:31244114).
messages: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
messages: Cytoplasm
messages: Homodimer (PubMed:10924358, PubMed:26755636). Interacts with ZNF33A (PubMed:12535642). Component of a signaling complex containing at least AKAP13, PKN1, MAPK14, MAP3K20 and MAP2K3 (PubMed:21224381). Within this complex, AKAP13 interacts directly with PKN1, which in turn recruits MAPK14, MAP2K3 and MAP3K20 (PubMed:21224381). Interacts with EIF2AK4/GCN2; promoting EIF2AK4/GCN2 kinase activity (PubMed:32610081).
messages: Interacts with isoform ZAKalpha.
messages: Interacts with isoform ZAKbeta.
messages: Isoform that lacks the C-terminal region that mediates ribosome-binding: does not act as a sensor of ribosome collisions in response to ribotoxic stress (PubMed:32610081, PubMed:32289254, PubMed:35857590). May act as an antagonist of isoform ZAKalpha: interacts with isoform ZAKalpha, leading to decrease the expression of isoform ZAKalpha (PubMed:27859413).
messages: Key component of the stress-activated protein kinase signaling cascade in response to ribotoxic stress or UV-B irradiation (PubMed:32610081, PubMed:32289254, PubMed:35857590). Acts as the proximal sensor of ribosome collisions during the ribotoxic stress response (RSR): directly binds to the ribosome by inserting its flexible C-terminus into the ribosomal intersubunit space, thereby acting as a sentinel for colliding ribosomes (PubMed:32610081, PubMed:32289254). Upon ribosome collisions, activates either the stress-activated protein kinase signal transduction cascade or the integrated stress response (ISR), leading to programmed cell death or cell survival, respectively (PubMed:32610081). Dangerous levels of ribosome collisions trigger the autophosphorylation and activation of MAP3K20, which dissociates from colliding ribosomes and phosphorylates MAP kinase kinases, leading to activation of the JNK and MAP kinase p38 pathways that promote programmed cell death (PubMed:32610081, PubMed:32289254). Less dangerous levels of ribosome collisions trigger the integrated stress response (ISR): MAP3K20 activates EIF2AK4/GCN2 independently of its protein-kinase activity, promoting EIF2AK4/GCN2-mediated phosphorylation of EIF2S1/eIF-2-alpha (PubMed:32610081). Also part of the stress-activated protein kinase signaling cascade triggering the NLRP1 inflammasome in response to UV-B irradiation: ribosome collisions activate MAP3K20, which directly phosphorylates NLRP1, leading to activation of the NLRP1 inflammasome and subsequent pyroptosis (PubMed:35857590). NLRP1 is also phosphorylated by MAP kinase p38 downstream of MAP3K20 (PubMed:35857590). Also acts as a histone kinase by phosphorylating histone H3 at 'Ser-28' (H3S28ph) (PubMed:15684425).
messages: Nucleus
messages: Recognizes stalled ribosomes via two separate and partially redundant sensor domains: the C-terminal domain (CTD) that binds the 18S ribosomal RNA (18S rRNA) and the sensing domain (S).
messages: Stress-activated component of a protein kinase signal transduction cascade that promotes programmed cell death in response to various stress, such as ribosomal stress, osmotic shock and ionizing radiation (PubMed:10924358, PubMed:11836244, PubMed:12220515, PubMed:14521931, PubMed:15350844, PubMed:15737997, PubMed:18331592, PubMed:20559024, PubMed:32610081, PubMed:32289254, PubMed:35857590, PubMed:26999302). Acts by catalyzing phosphorylation of MAP kinase kinases, leading to activation of the JNK (MAPK8/JNK1, MAPK9/JNK2 and/or MAPK10/JNK3) and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways (PubMed:11042189, PubMed:11836244, PubMed:12220515, PubMed:14521931, PubMed:15172994, PubMed:15737997, PubMed:32610081, PubMed:32289254, PubMed:35857590). Activates JNK through phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7, and MAP kinase p38 gamma (MAPK12) via phosphorylation of MAP2K3/MKK3 and MAP2K6/MKK6 (PubMed:11836244, PubMed:12220515). Involved in stress associated with adrenergic stimulation: contributes to cardiac decompensation during periods of acute cardiac stress (PubMed:15350844, PubMed:21224381, PubMed:27859413). May be involved in regulation of S and G2 cell cycle checkpoint by mediating phosphorylation of CHEK2 (PubMed:15342622).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed. Isoform ZAKbeta is the predominant form in all tissues examined, except for liver, in which isoform ZAKalpha is more highly expressed.

9606:TMEM17
gene id: 9606:TMEM17
uniprot id: Q86X19
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TMEM17 family.
messages: Part of the tectonic-like complex (also named B9 complex).
messages: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).
messages: cilium membrane

9606:TMA7
gene id: 9606:TMA7
uniprot id: Q9Y2S6
names: Similarity
names: Tissue Specificity
messages: Belongs to the TMA7 family.
messages: Expressed in dermal papilla cells with aggregative behavior.

9606:IRS2
gene id: 9606:IRS2
uniprot id: Q9Y4H2
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Interacts with PHIP.
messages: May mediate the control of various cellular processes by insulin.
messages: cytosol

9606:IL1RAPL1
gene id: 9606:IL1RAPL1
uniprot id: Q9NZN1
uniprot id: X5DNQ7
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the interleukin-1 receptor family.
messages: Cell membrane
messages: Cytoplasm
messages: Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal liver.
messages: Homodimer (PubMed:15123616). Interacts (calcium-independent) with NCS1 (PubMed:12783849). Interacts (via the first immunoglobilin domain) with PTPRD (via the second immunoglobilin domain); this interaction is PTPRD-splicing-dependent and induces pre- and post-synaptic differentiation of neurons and is required for IL1RAPL1-mediated synapse formation (By similarity).
messages: May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).
messages: The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: axon
messages: dendrite

9606:RPEL1
gene id: 9606:RPEL1
uniprot id: Q2QD12
names: Cofactor
names: Function
names: Miscellaneous
names: Similarity
names: Subunit
messages: According to some authors, RPEL1 is a RPE retrogene on chromosome 2 which is likely to be functional.
messages: Belongs to the ribulose-phosphate 3-epimerase family.
messages: Binds 1 divalent metal cation per subunit. Active with Fe(2+), and probably also with Mn(2+), Zn(2+) and Co(2+).
messages: Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.
messages: Homodimer.

9606:PRKCH
gene id: 9606:PRKCH
uniprot id: P24723
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.
messages: By stress conditions caused by amino acid starvation (at protein level).
messages: Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiation. Associates with the cyclin CCNE1-CDK2-CDKN1B complex and inhibits CDK2 kinase activity, leading to RB1 dephosphorylation and thereby G1 arrest in keratinocytes. In association with RALA activates actin depolymerization, which is necessary for keratinocyte differentiation. In the pre-B cell receptor signaling, functions downstream of BLNK by up-regulating IRF4, which in turn activates L chain gene rearrangement. Regulates epithelial tight junctions (TJs) by phosphorylating occludin (OCLN) on threonine residues, which is necessary for the assembly and maintenance of TJs. In association with PLD2 and via TLR4 signaling, is involved in lipopolysaccharide (LPS)-induced RGS2 down-regulation and foam cell formation. Upon PMA stimulation, mediates glioblastoma cell proliferation by activating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection of glioblastoma cells from irradiation-induced apoptosis by preventing caspase-9 activation. In camptothecin-treated MCF-7 cells, regulates NF-kappa-B upstream signaling by activating IKBKB, and confers protection against DNA damage-induced apoptosis. Promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. Phosphorylates ATF2 which promotes its nuclear retention and transcriptional activity and negatively regulates its mitochondrial localization.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Interacts with FYN (By similarity). Interacts with RALA (By similarity). Interacts with DGKQ (PubMed:15632189). Interacts with PRKCH upstream open reading frame 2; the interaction leads to inhibition of kinase activity (PubMed:34593629).
messages: Most abundant in lung, less in heart and skin.
messages: Novel PKCs (PRKCD, PRKCE, PRKCH and PRKCQ) are calcium-insensitive, but activated by diacylglycerol (DAG) and phosphatidylserine. Three specific sites; Thr-513 (activation loop of the kinase domain), Thr-656 (turn motif) and Ser-675 (hydrophobic region), need to be phosphorylated for its full activation. Inhibited by PRKCH upstream open reading frame 2 (PubMed:34593629).
messages: The C1 domain, containing the phorbol ester/DAG-type region 1 (C1A) and 2 (C1B), is the diacylglycerol sensor and the C2 domain is a non-calcium binding domain.

9606:SLC33A1
gene id: 9606:SLC33A1
uniprot id: O00400
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SLC33A transporter family.
messages: Endoplasmic reticulum membrane
messages: Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas.

9606:YY1AP1
gene id: 9606:YY1AP1
uniprot id: Q9H869
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication (PubMed:27939641). Enhances transcription activation by YY1 (PubMed:14744866). Plays a role in cell cycle regulation (PubMed:17541814, PubMed:27939641).
messages: Cytoplasm
messages: Interacts with YY1. Interacts with MAD2L2. Interacts with INO80.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitous. Detected in small intestine, skeletal muscle, lung, pancreas, brain, stomach, spleen, colon and heart. Detected at very low levels in healthy liver. Highly expressed in most liver carcinomas.
messages: nucleolus
messages: nucleoplasm

9606:HK2
gene id: 9606:HK2
uniprot id: P52789
names: Activity Regulation
names: Caution
names: Domain
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Although found in NIDDM patients, genetic variations of HK2 do not contribute to the disease (PubMed:7883122, PubMed:7883123).
messages: Belongs to the hexokinase family.
messages: Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D-fructose 6-phosphate, respectively) (PubMed:23185017, PubMed:26985301, PubMed:29298880). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:29298880). Plays a key role in maintaining the integrity of the outer mitochondrial membrane by preventing the release of apoptogenic molecules from the intermembrane space and subsequent apoptosis (PubMed:18350175).
messages: Hexokinase activity is specifically inhibited by 2,6-disubstituted glucosamines.
messages: Hexokinase is known to act as a monomer in normal conditions (By similarity). It however homodimerizes at elevated protein concentrations used for crystallizations (PubMed:26985301, PubMed:29298880).
messages: Mitochondrion outer membrane
messages: Monomer (By similarity). Interacts with TIGAR; the interaction increases hexokinase activity in a hypoxia- and HIF1A-dependent manner (PubMed:23185017).
messages: Predominant hexokinase isozyme expressed in insulin-responsive tissues such as skeletal muscle.
messages: The N- and C-terminal halves of the protein contain a hexokinase domain (PubMed:29298880). In contrast to hexokinase-1 and -3 (HK1 and HK3, respectively), both hexokinase domains display catalytic activity (PubMed:29298880). The region connecting the two hexokinase domains is required for the catalytic activity of the N-terminal hexokinase domain (PubMed:29298880). The N-terminal half regulates stability of the whole enzyme (PubMed:29298880).
messages: cytosol

9606:ZNF552
gene id: 9606:ZNF552
uniprot id: Q9H707
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:CSPP1
gene id: 9606:CSPP1
uniprot id: Q1MSJ5
names: Developmental Stage
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis.
messages: Interacts with PLEKHG6. Interacts with ARMC9, TOGARAM1, CCDC66, CEP104 and CEP290 (PubMed:32453716).
messages: Isoform 1 expression increases throughout the cell cycle and peaks in G2/M phase. Isoform 2 expression is highest in G1 phase and decreases thereafter.
messages: May play a role in cell-cycle-dependent microtubule organization.
messages: Phosphorylated. Phosphorylation increases in colcemide-treated cells.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centrosome
messages: spindle
messages: spindle pole

9606:NELFA
gene id: 9606:NELFA
uniprot id: Q9H3P2
names: Caution
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II.
messages: Belongs to the NELF-A family.
messages: Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex.
messages: Nucleus
messages: PubMed:12612062 has shown that it is not involved in Wolf-Hirschhorn syndrome.
messages: The HDAg-like domain is essential for transcriptional repression, and mediates the interaction with the RNA polymerase II complex.
messages: The NELF complex is composed of NELFA, NELFB, NELFCD (isoform NELF-C or isoform NELF-D) and NELFE; NELFA and NELFCD form a stable subcomplex that binds to the N-terminus of NELFB (PubMed:11387440). In vitro, the NELFA:NELFCD subcomplex binds to ssDNA and ssRNA in a sequence- and structure-dependent manner (PubMed:27282391). Interacts with the RNA polymerase II complex when it is not phosphorylated by P-TEFb (PubMed:10199401).
messages: Ubiquitous. Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at lower level in adult lung. Expressed in fetal brain, lung, liver and kidney.

9606:ADGRE5
gene id: 9606:ADGRE5
uniprot id: P48960
names: Domain
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
messages: Binding to chondroitin sulfate is mediated by the fourth EGF domain.
messages: Broadly expressed, found on most hematopoietic cells, including activated lymphocytes, monocytes, macrophages, dendritic cells, and granulocytes. Expressed also abundantly by smooth muscle cells. Expressed in thyroid, colorectal, gastric, esophageal and pancreatic carcinomas too. Expression are increased under inflammatory conditions in the CNS of multiple sclerosis and in synovial tissue of patients with rheumatoid arthritis. Increased expression of CD97 in the synovium is accompanied by detectable levels of soluble CD97 in the synovial fluid.
messages: Cell membrane
messages: Forms a heterodimer, consisting of a large extracellular region (alpha subunit) non-covalently linked to a seven-transmembrane moiety (beta subunit). Interacts with complement decay-accelerating factor (DAF). The largest isoform (isoform 1) interacts with chondroitin sulfate.
messages: Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit.
messages: Rapid up-regulation during lymphocyte activation.
messages: Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration.
messages: The first two EGF domains mediate the interaction with DAF. A third tandemly arranged EGF domain is necessary for the structural integrity of the binding region.
messages: extracellular space

9606:HSD17B6
gene id: 9606:HSD17B6
uniprot id: A0A024RB43
uniprot id: O14756
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
messages: Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected in fetal lung, liver and brain.
messages: Early endosome membrane
messages: Microsome membrane
messages: NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids.

9606:ZNF891
gene id: 9606:ZNF891
uniprot id: A8MT65
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:PNPLA3
gene id: 9606:PNPLA3
uniprot id: Q9NST1
names: Activity Regulation
names: Disease Annotation
names: Function
names: Induction
names: Polymorphism
names: Subcellular Location Annotation
messages: By changes in energy balance: down-regulated following very low-calorie diet, whereas refeeding elevates the mRNA level.
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Lipid droplet
messages: Membrane
messages: Polymorphic variation at position 148 influences insulin secretion levels and obesity. In obese subjects the body mass index and waist are higher in carriers of the Ile-148 allele. The Ile-148 carriers also display decreased insulin secretion in response to oral glucose tolerance test. Met-148 allele carriers are seemingly more insulin resistant at a lower body mass index.
messages: Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA (PubMed:22560221). Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides (PubMed:15364929, PubMed:20034933, PubMed:22560221). In vitro may express hydrolytic activity against glycerolipids triacylglycerol, diacylglycerol and monoacylglycerol, with a strong preference for oleic acid as the acyl moiety (PubMed:21878620). However, the triacylglycerol hydrolase activity is controversial and may be very low (PubMed:22560221). Possesses phospholipase A2 activity (PubMed:15364929).
messages: The triglyceride lipase activity is inhibited by BEL ((E)-6-(bromomethylene)-3-(1-naphthalenyl)-2H-tetrahydropyran-2-one), a suicide substrate inhibitor.

9606:RBFA
gene id: 9606:RBFA
uniprot id: Q8N0V3
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the RbfA family.
messages: Mitochondrion

9606:SPTLC3
gene id: 9606:SPTLC3
uniprot id: Q9NUV7
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Endoplasmic reticulum membrane
messages: Expressed in most tissues, except peripheral blood cells and bone marrow, with highest levels in heart, kidney, liver, uterus and skin.
messages: Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. The composition of the complex will define the substrate specificity.
messages: Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. SPT complexes containing SPTLC3 generate shorter chain sphingoid bases compared to complexes containing SPTLC2. The SPTLC1-SPTLC3-SPTSSA isozyme uses C12-CoA, C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. On the other hand, the SPTLC1-SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference.

9606:CLN5
gene id: 9606:CLN5
uniprot id: A0A024R644
uniprot id: O75503
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CLN5 family.
messages: Can undergo proteolytic cleavage at the C-terminus, probably by a cysteine protease and may involve the removal of approximately 10-15 residues from the C-terminal end (PubMed:26342652).
messages: Interacts with SORT1, RAB5A and RAB7A (PubMed:22431521). Interacts with PPT1, TPP1, CLN3, CLN6, CLN8, ATP5F1A and ATP5F1B (By similarity).
messages: Lysosome
messages: Membrane
messages: N-glycosylated with both high mannose and complex type sugars. Glycosylation is important for proper folding and trafficking to the lysosomes.
messages: Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The type II membrane signal anchor is proteolytically cleaved to produce a mature form that is transported to the lysosomes (Ceroid-lipofuscinosis neuronal protein 5, secreted form) (PubMed:24038957, PubMed:20052765).
messages: Ubiquitous.

9606:REG3G
gene id: 9606:REG3G
uniprot id: Q6UW15
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Restricts bacterial colonization of the intestinal epithelial surface and consequently limits activation of adaptive immune responses by the microbiota. The uncleaved form has bacteriostatic activity, whereas the cleaved form has bactericidal activity against L.monocytogenes and methicillin-resistant S.aureus. Regulates keratinocyte proliferation and differentiation after skin injury.
messages: Cytoplasm
messages: Predominantly expressed in pancreas, where it may be restricted to exocrine pancreas. Moderate expression levels in testis and weak in heart, kidney and placenta.
messages: Proteolytic processing by trypsin removes an inhibitory N-terminal propeptide and is essential for peptidoglycan binding and antibacterial activity.
messages: Secreted
messages: The EPN motif is essential for recognition of the peptidoglycan carbohydrate backbone and for efficient bacterial killing with Glu-114 playing a key role in peptidoglycan binding and bactericidal activity.

9606:CASZ1
gene id: 9606:CASZ1
uniprot id: Q86V15
names: Caution
names: Function
names: Miscellaneous
names: Subcellular Location Annotation
names: Tissue Specificity
messages: According to PubMed:16322216, another protein (SRG) is encoded on the 3'-UTR of the CASZ1 gene. The existence of this protein that may play a role in apoptosis is extremely dubious despite the fact it was localized in the cytoplasm with the help of a polyclonal antibody.
messages: Endothelial cells depleted in CASZ1 by siRNAs display dramatic alterations in adhesion, morphology and sprouting; normal behavior can be rescued by restoration of EGFL7 expression. The defects are in part due to diminished RhoA expression and impaired focal adhesion localization.
messages: Expressed in heart, lung, skeletal muscle, pancreas, testis, small intestine, and stomach, but it is not detectable in the adult brain.
messages: Nucleus
messages: Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441).

9606:PPIF
gene id: 9606:PPIF
uniprot id: A0A024QZS4
uniprot id: P30405
names: Activity Regulation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylated at Lys-167; deacetylated at Lys-167 by SIRT3.
messages: Associates with the mitochondrial membrane ATP synthase F(1)F(0) ATP synthase; the association is increased by inorganic phosphate (Pi) and decreased by cyclosporin A (CsA) (By similarity). Interacts with ATP5F1B; ATP5PD and ATP5PO (By similarity). Interacts with SLC25A3; the interaction is impaired by CsA (By similarity). Interacts with BCL2; the interaction is impaired by CsA (PubMed:19228691). Interacts with TP53; the association implicates preferentially tetrameric TP53, is induced by oxidative stress and is impaired by CsA (PubMed:22726440). Interacts with C1QBP (PubMed:20950273). Interacts with MCUR1 (PubMed:26976564). Component of the mitochondrial permeability transition pore complex (mPTPC), at least composed of SPG7, VDAC1 and PPIF (PubMed:26387735). Interacts with SPG7 (PubMed:26387735).
messages: Belongs to the cyclophilin-type PPIase family.
messages: Inhibited by cyclosporin A (CsA) (PubMed:20676357). Is displaced by CsA from the mPTP leading to a lower open probability of the mPTP.
messages: Mitochondrion matrix
messages: PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Involved in regulation of the mitochondrial permeability transition pore (mPTP) (PubMed:26387735). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated (PubMed:26387735). In cooperation with mitochondrial p53/TP53 is involved in activating oxidative stress-induced necrosis (PubMed:22726440). Involved in modulation of mitochondrial membrane F(1)F(0) ATP synthase activity and regulation of mitochondrial matrix adenine nucleotide levels (By similarity). Has anti-apoptotic activity independently of mPTP and in cooperation with BCL2 inhibits cytochrome c-dependent apoptosis (PubMed:19228691).
messages: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.

9606:TMEM102
gene id: 9606:TMEM102
uniprot id: Q8N9M5
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cell membrane
messages: Interacts with CSF2RB; this interaction occurs preferentially in the absence of CSF2.
messages: Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway.

9606:FOXM1
gene id: 9606:FOXM1
uniprot id: A0A0D9SFF0
uniprot id: A0A2P9DTZ1
uniprot id: A0A2P9DTZ8
uniprot id: A8K591
uniprot id: Q08050
uniprot id: Q53Y49
names: Developmental Stage
names: Domain
names: Function
names: Induction
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Embryonic expression pattern: liver, lung, intestine, kidney, urinary tract; adult expression pattern: intestine, colon, testis and thymus.
messages: Expressed in thymus, testis, small intestine, colon followed by ovary. Appears to be expressed only in adult organs containing proliferating/cycling cells or in response to growth factors. Also expressed in epithelial cell lines derived from tumors. Not expressed in resting cells. Isoform 2 is highly expressed in testis.
messages: Induced during liver regeneration and oxidative stress.
messages: Interacts with PINT87aa which is encoded by the circular form of the long non-coding RNA LINC-PINT; the interaction inhibits FOXM1-mediated transcription of PHB2.
messages: Nucleus
messages: Phosphorylated in M (mitotic) phase. Phosphorylation by the checkpoint kinase CHEK2 in response to DNA damage increases the FOXM1 protein stability probably stimulating the transcription of genes involved in DNA repair. Phosphorylated by CDK1 in late S and G2 phases, creating docking sites for the POLO box domains of PLK1. Subsequently, PLK1 binds and phosphorylates FOXM1, leading to activation of transcriptional activity and subsequent enhanced expression of key mitotic regulators.
messages: Transcription factor regulating the expression of cell cycle genes essential for DNA replication and mitosis (PubMed:19160488, PubMed:20360045). Plays a role in the control of cell proliferation (PubMed:19160488). Also plays a role in DNA break repair, participating in the DNA damage checkpoint response (PubMed:17101782). Promotes transcription of PHB2 (PubMed:33754036).
messages: Within the protein there is a domain which acts as a transcriptional activator. Insertion of a splicing sequence within it inactivates this transcriptional activity, as it is the case for isoform 4.

9606:HGS
gene id: 9606:HGS
uniprot id: A0A0S2Z4R4
uniprot id: O14964
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Component of the ESCRT-0 complex composed of STAM or STAM2 and HGS. Part of a complex at least composed of HSG, STAM2 (or probably STAM) and EPS15 (PubMed:12551915). Interacts with STAM (PubMed:9407053). Interacts with STAM2 (By similarity). Interacts with EPS15; the interaction is direct, calcium-dependent and inhibited by SNAP25 (By similarity). Identified in a complex with STAM and LITAF (PubMed:23166352). Found in a complex with STAM and E3 ligase ITCH and DTX3L (PubMed:24790097). Interacts with E3 ligase DTX3L; the interaction brings together STAM and HSG, promotes their recruitment to early endosomes and decreases STAM and HGS ubiquitination by ITCH (PubMed:24790097). Interacts with NF2; the interaction is direct (PubMed:10861283). Interacts with ubiquitin; the interaction is direct (By similarity). Interacts with VPS37C (PubMed:15509564). Interacts with SMAD1, SMAD2 and SMAD3 (By similarity). Interacts with TSG101; the interaction mediates the association with the ESCRT-I complex (PubMed:21070952). Interacts with SNAP25; the interaction is direct and decreases with addition of increasing concentrations of free calcium (By similarity). Interacts with SNX1; the interaction is direct (By similarity). Component of a 550 kDa membrane complex at least composed of HGS and SNX1 but excluding EGFR (By similarity). Interacts with TRAK1 (PubMed:18675823). Interacts with TRAK2 (By similarity). Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3 (PubMed:15772161). Interacts (via UIM domain) with UBQLN1 (via ubiquitin-like domain) (By similarity). Interacts with ARRDC3 (PubMed:23208550). Identified in a complex containing at least ARRDC4, AVPR2 and HGS (PubMed:23236378). Interacts with LAPTM4B; promotes HGS ubiquitination (PubMed:25588945).
messages: Cytoplasm
messages: Dubious isoform produced through aberrant splice sites.
messages: Early endosome membrane
messages: Has a double-sided UIM that can bind 2 ubiquitin molecules, one on each side of the helix.
messages: Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. May contribute to the efficient recruitment of SMADs to the activin receptor complex. Involved in receptor recycling via its association with the CART complex, a multiprotein complex required for efficient transferrin receptor recycling but not for EGFR degradation.
messages: Phosphorylated on Tyr-334. A minor site of phosphorylation on Tyr-329 is detected (By similarity). Phosphorylation occurs in response to EGF, IL-2, GM-CSF and HGF.
messages: The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions.
messages: Ubiquitinated (PubMed:25588945). Ubiquitinated by ITCH (PubMed:14602072, PubMed:24790097).
messages: Ubiquitous expression in adult and fetal tissues with higher expression in testis and peripheral blood leukocytes.
messages: multivesicular body membrane

9606:PDPN
gene id: 9606:PDPN
uniprot id: Q86YL7
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Apical cell membrane
messages: Basolateral cell membrane
messages: Belongs to the podoplanin family.
messages: Cleaved by a metalloprotease within its extracellular (EC) domain, generating a membrane-bound C-terminal fragment (PCTF33) and an extracellular fragment. The resulting membrane-bound C-terminal fragment (PCTF33) is further processed between Val-150 and Val-151 by PSEN1/gamma-secretase generating the intracellular domain of podoplanin (PICD).
messages: Extensively O-glycosylated. Contains sialic acid residues. O-glycosylation is necessary for platelet aggregation activity. Disialylated at Thr-52; sialic acid is critical for platelet-aggregating activity and for CLEC1B interaction (PubMed:17222411, PubMed:25458834).
messages: Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas.
messages: Homodimer (PubMed:21376833). Interacts with CLEC1B; the interaction is independent of CLEC1B glycosylation and activates CLEC1B; the interaction is dependent of sialic acid on O-glycans (PubMed:18215137, PubMed:17616532, PubMed:25458834). Interacts with CD9; this interaction is homophilic and attenuates platelet aggregation and pulmonary metastasis induced by PDPN (PubMed:18541721). Interacts with LGALS8; the interaction is glycosylation-dependent; may participate in connection of the lymphatic endothelium to the surrounding extracellular matrix (PubMed:19268462). Interacts with HSPA9 (PubMed:23541579). Interacts (via extracellular domain) with CD44; this interaction is required for PDPN-mediated directional migration and regulation of lamellipodia extension/stabilization during cell spreading and migration (PubMed:20962267). Interacts (via cytoplasmic domain) with MSN and EZR; activates RHOA and promotes epithelial-mesenchymal transition (PubMed:17046996). Interacts with CCL21; relocalized PDPN to the basolateral membrane (PubMed:14978162).
messages: Mediates effects on cell migration and adhesion through its different partners. During development plays a role in blood and lymphatic vessels separation by binding CLEC1B, triggering CLEC1B activation in platelets and leading to platelet activation and/or aggregation (PubMed:14522983, PubMed:15231832, PubMed:17616532, PubMed:18215137, PubMed:17222411). Interaction with CD9, on the contrary, attenuates platelet aggregation induced by PDPN (PubMed:18541721). Through MSN or EZR interaction promotes epithelial-mesenchymal transition (EMT) leading to ERZ phosphorylation and triggering RHOA activation leading to cell migration increase and invasiveness (PubMed:17046996, PubMed:21376833). Interaction with CD44 promotes directional cell migration in epithelial and tumor cells (PubMed:20962267). In lymph nodes (LNs), controls fibroblastic reticular cells (FRCs) adhesion to the extracellular matrix (ECM) and contraction of the actomyosin by maintaining ERM proteins (EZR; MSN and RDX) and MYL9 activation through association with unknown transmembrane proteins. Engagement of CLEC1B by PDPN promotes FRCs relaxation by blocking lateral membrane interactions leading to reduction of ERM proteins (EZR; MSN and RDX) and MYL9 activation (By similarity). Through binding with LGALS8 may participate in connection of the lymphatic endothelium to the surrounding extracellular matrix (PubMed:19268462). In keratinocytes, induces changes in cell morphology showing an elongated shape, numerous membrane protrusions, major reorganization of the actin cytoskeleton, increased motility and decreased cell adhesion (PubMed:15515019). Controls invadopodia stability and maturation leading to efficient degradation of the extracellular matrix (ECM) in tumor cells through modulation of RHOC activity in order to activate ROCK1/ROCK2 and LIMK1/LIMK2 and inactivation of CFL1 (PubMed:25486435). Required for normal lung cell proliferation and alveolus formation at birth (By similarity). Does not function as a…
messages: Membrane
messages: Membrane raft
messages: The N-terminus is blocked.
messages: The cytoplasmic domain controls FRC elongation but is dispensable for contraction (By similarity). The cytoplasmic domain is essential for recruitment to invadopodia and ECM degradation (PubMed:25486435).
messages: cytosol
messages: filopodium membrane
messages: invadopodium
messages: lamellipodium membrane
messages: microvillus membrane
messages: ruffle membrane

9606:ARAP1
gene id: 9606:ARAP1
uniprot id: Q96P48
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Cytoplasm
messages: Detected in heart, skeletal muscle, spleen, kidney, liver, placenta, lung, peripheral blood leukocytes, adrenal gland, bone marrow, brain, lymph node, mammary gland, prostate, spinal cord, stomach, thyroid and trachea.
messages: Golgi stack membrane
messages: Interacts with TNFRSF10A.
messages: Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Has a preference for ARF1 and ARF5 (By similarity).

9606:H4-16
gene id: 9606:H4-16
uniprot id: B2R4R0
uniprot id: P62805
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Acetylation at Lys-6 (H4K5ac), Lys-9 (H4K8ac), Lys-13 (H4K12ac) and Lys-17 (H4K16ac) occurs in coding regions of the genome but not in heterochromatin.
messages: Belongs to the histone H4 family.
messages: Butyrylation of histones marks active promoters and competes with histone acetylation.
messages: Chromosomal aberrations involving HISTONE H4 is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;6)(q27;p21), with BCL6.
messages: Chromosome
messages: Citrullination at Arg-4 (H4R3ci) by PADI4 impairs methylation.
messages: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
messages: Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
messages: Glutarylation at Lys-92 (H4K91glu) destabilizes nucleosomes by promoting dissociation of the H2A-H2B dimers from nucleosomes.
messages: Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
messages: Monomethylated, dimethylated or trimethylated at Lys-21 (H4K20me1, H4K20me2, H4K20me3) (PubMed:12086618, PubMed:15964846, PubMed:17967882). Monomethylation is performed by KMT5A/SET8 (PubMed:15964846). Dimethylation and trimethylation is performed by KMT5B and KMT5C and induces gene silencing (By similarity). Monomethylated at Lys-13 (H4K12me1) by N6AMT1; H4K12me1 modification is present at the promoters of numerous genes encoding cell cycle regulators (PubMed:31061526).
messages: Monomethylation and asymmetric dimethylation at Arg-4 (H4R3me1 and H4R3me2a, respectively) by PRMT1 favors acetylation at Lys-9 (H4K8ac) and Lys-13 (H4K12ac). Demethylation is performed by JMJD6. Symmetric dimethylation on Arg-4 (H4R3me2s) by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
messages: Nucleus
messages: Phosphorylated by PAK2 at Ser-48 (H4S47ph). This phosphorylation increases the association of H3.3-H4 with the histone chaperone HIRA, thus promoting nucleosome assembly of H3.3-H4 and inhibiting nucleosome assembly of H3.1-H4.
messages: Sumoylated, which is associated with transcriptional repression.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED1 is caused by variants in H4C3.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED2 is caused by variants in H4C11.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED3 is caused by variants in H4C5.
messages: The disease is caused by variants affecting the gene represented in this entry. TEVANED4 is caused by variants in H4C9.
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA (By similarity). Found in a co-chaperone complex with DNJC9, MCM2 and histone H3.3-H4 dimers (PubMed:33857403). Within the complex, interacts with DNJC9 (via C-terminus); the interaction is direct (PubMed:33857403).
messages: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
messages: Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins. Monoubiquitinated at Lys-92 of histone H4 (H4K91ub1) in response to DNA damage. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 Lys-21 methylation (H4K20me).
messages: Ufmylated; monofmylated by UFL1 at Lys-32 (H4K31Ufm1) in response to DNA damage.

9606:RIMBP2
gene id: 9606:RIMBP2
uniprot id: A0A2R8Y6Z0
uniprot id: O15034
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RIMBP family.
messages: Cell membrane
messages: Interacts with RIMS1, RIMS2, CACNA1D and CACNA1B, and potentially with other Ca(2+) channel alpha-1 isoforms.
messages: Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B.
messages: Synapse
messages: The SH3 domains mediate binding to a proline-rich motif in RIMS1, RIMS2, CACNA1D and CACNA1B.

9606:IL32
gene id: 9606:IL32
uniprot id: P24001
names: Function
names: Induction
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF-alpha and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK.
messages: Expression increased after activation of T-cells by mitogens or activation of NK cells by IL2/interleukin-2.
messages: Secreted
messages: Selectively expressed in lymphocytes. Expression is more prominent in immune cells than in non-immune cells.

9606:TOR1A
gene id: 9606:TOR1A
uniprot id: B3KPA1
uniprot id: O14656
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the ClpA/ClpB family. Torsin subfamily.
messages: Cytoplasmic vesicle membrane
messages: Endoplasmic reticulum lumen
messages: Homohexamer. Interacts with TOR1B; the interaction may be specific of neural tissues. Interacts (ATP-bound) with TOR1AIP1 and TOR1AIP2; the interactions induce ATPase activity. Interacts with KLHL14; preferentially when ATP-free. Interacts with KLC1 (via TPR repeats); the interaction associates TOR1A with the kinesin oligomeric complex. Interacts with COPS4; the interaction associates TOR1A with the CSN complex. Interacts with SNAPIN; the interaction is direct and associates SNAPIN with the CSN complex. Interacts with STON2. Interacts (ATP-bound) with SYNE3 (via KASH domain); the interaction is required for SYNE3 nuclear envelope localization. Interacts with VIM; the interaction associates TOR1A with the cytoskeleton. Interacts with PLEC. Interacts (ATP-bound) with SLC6A3; regulates SLC6A3 transport to the plasma membrane.
messages: Membrane
messages: N-glycosylated.
messages: Nucleus membrane
messages: Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed. Highest levels in kidney and liver. In the brain, high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex, hippocampus and cerebellum. Also highly expressed in the spinal cord.
messages: cytoskeleton
messages: growth cone
messages: secretory vesicle
messages: synaptic vesicle

9606:PRR23A
gene id: 9606:PRR23A
uniprot id: A6NEV1
names: Similarity
messages: Belongs to the PRR23 family.

9606:NPDC1
gene id: 9606:NPDC1
uniprot id: Q9NQX5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the NPDC1/cab-1 family.
messages: Membrane
messages: Strongly expressed in adult brain; especially in hippocampus, frontal lobe and temporal lobe.
messages: Suppresses oncogenic transformation in neural and non-neural cells and down-regulates neural cell proliferation. Might be involved in transcriptional regulation (By similarity).

9606:NAF1
gene id: 9606:NAF1
uniprot id: Q96HR8
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NAF1 family.
messages: Cytoplasm
messages: During assembly of the complex, component of the small nucleolar ribonucleoprotein particles containing H/ACA-type snoRNAs (H/ACA snoRNPs) which contains NOLA2/NHP2, NOLA3/NOP10, NAF1 and DKC1/NOLA4. Interacts directly with DKC1/NOLA4.
messages: Nucleus
messages: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4.

9606:TRIM59
gene id: 9606:TRIM59
uniprot id: Q8IWR1
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the TRIM/RBCC family.
messages: E3 ubiquitin ligase involved in different processes such as development and immune response (PubMed:22588174, PubMed:30231667). Serves as a negative regulator for innate immune signaling pathways by suppressing RLR-induced activation of IRF3/7 and NF-kappa-B via interaction with adapter ECSIT (PubMed:22588174). Regulates autophagy through modulating both the transcription and the ubiquitination of BECN1 (PubMed:30231667). On the one hand, regulates the transcription of BECN1 through negatively modulating the NF-kappa-B pathway. On the other hand, regulates TRAF6-mediated 'Lys-63'-linked ubiquitination of BECN1, thus affecting the formation of the BECN1-PIK3C3 complex. In addition, mediates 'Lys-48'-linked ubiquitination of TRAF6 and thereby promotes TRAF6 proteasomal degradation (PubMed:30231667). Acts also as a critical regulator for early embryo development from blastocyst stage to gastrula through modulating F-actin assembly and WASH1 'Lys-63'-linked ubiquitination (By similarity).
messages: Endoplasmic reticulum membrane
messages: Interacts with ECSIT (PubMed:22588174).

9606:GDAP2
gene id: 9606:GDAP2
uniprot id: Q9NXN4
names: Disease Annotation
names: Similarity
messages: Belongs to the GDAP2 family.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:STEAP2
gene id: 9606:STEAP2
uniprot id: B3KS24
uniprot id: Q6YPB2
uniprot id: Q8NFT2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the STEAP family.
messages: Cell membrane
messages: Endosome membrane
messages: Expressed at high levels in prostate and at significantly lower levels in heart, brain, kidney, pancreas, and ovary.
messages: Membrane
messages: Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity).

9606:SERPING1
gene id: 9606:SERPING1
uniprot id: E9KL26
uniprot id: P05155
names: Disease Annotation
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.
messages: Belongs to the serpin family.
messages: Binds to E.coli stcE which allows localization of SERPING1 to cell membranes thus protecting the bacteria against complement-mediated lysis. Interacts with MASP1.
messages: Can be proteolytically cleaved by E.coli stcE.
messages: Chymotrypsin uses Ala-465 as its reactive site in normal plasma protease C1 inhibitor, and His-466 as its reactive site in the variant His-466.
messages: Highly glycosylated (49%) with N- and O-glycosylation. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-25: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor).
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SYT14
gene id: 9606:SYT14
uniprot id: A0A1B0GTZ1
uniprot id: A1L3Y1
uniprot id: Q8NB59
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the synaptotagmin family.
messages: Highly expressed in fetal and adult brain tissue.
messages: Homodimer. Can also form heterodimers (By similarity).
messages: May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZNRF4
gene id: 9606:ZNRF4
uniprot id: Q8WWF5
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: E3 ubiquitin-protein ligase that acts as a negative regulator of NOD2 signaling by mediating ubiquitination and degradation of RIPK2 (PubMed:28656966). Also catalyzes ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum (PubMed:21205830). Could have a role in spermatogenesis (By similarity).
messages: Endoplasmic reticulum membrane
messages: Interacts with CANX.
messages: The RING-type zinc finger is involved in CANX ubiquitination and degradation, but is not required for interaction with CANX.

9606:CDK11A
gene id: 9606:CDK11A
uniprot id: Q4VBY6
uniprot id: Q5QPR3
uniprot id: Q9UQ88
names: Activity Regulation
names: Caution
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Appears to play multiple roles in cell cycle progression, cytokinesis and apoptosis. The p110 isoforms have been suggested to be involved in pre-mRNA splicing, potentially by phosphorylating the splicing protein SFRS7. The p58 isoform may act as a negative regulator of normal cell cycle progression.
messages: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
messages: Cytoplasm
messages: Duplicated gene. CDK11A and CDK11B encode almost identical protein kinases of 110 kDa that contain at their C-termini the open reading frame of a smaller 58 kDa isoform which is expressed following IRES-mediated alternative initiation of translation.
messages: During apoptosis, induced by Fas or tumor necrosis factor, specific CKD11 p110 isoforms are cleaved by caspases to produce a protein (p110C) that contains the C-terminal kinase domain of the CDK11 proteins.
messages: Expressed ubiquitously. Some evidence of isoform-specific tissue distribution.
messages: Many references talk about 'p110 isoforms' but it is not yet known if this refers to CDK11A and/or CDK11B or one/some of the isoforms of each.
messages: Nucleus
messages: Phosphorylation at Thr-436 or Tyr-437 inactivates the enzyme, while phosphorylation at Thr-583 activates it.
messages: Produced by alternative initiation at Met-345 of isoform SV6.
messages: The cleaved p110 isoform, p110C, binds to the serine/threonine kinase PAK1. The p58 isoform but not the p110 isoform or p110C interacts with CCND3. The p110 isoforms are found in large molecular weight complexes containing CCNL1 and SFRS7.
messages: The p58 isoform is specifically induced in G2/M phase of the cell cycle.

9606:PRRG4
gene id: 9606:PRRG4
uniprot id: Q9BZD6
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the commissureless family.
messages: Cell membrane
messages: Endoplasmic reticulum-Golgi intermediate compartment membrane
messages: Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium.
messages: Interacts (via cytoplasmic domain) with WW domain-containing proteins MAGI1, MAGI3, NEDD4, NEDD4L, WWTR1/TAZ and YAP1.
messages: May control axon guidance across the CNS (PubMed:28859078). Prevents the delivery of ROBO1 at the cell surface and down-regulates its expression (PubMed:28859078).
messages: Widely expressed with highest levels in kidney.

9606:RPP40
gene id: 9606:RPP40
uniprot id: O75818
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Component of nuclear RNase P and RNase MRP ribonucleoproteins (PubMed:9630247, PubMed:16723659, PubMed:28115465, PubMed:30454648). RNase P consists of a catalytic RNA moiety and about 10 protein subunits; POP1, POP4, POP5, POP7, RPP14, RPP21, RPP25, RPP30, RPP38 and RPP40 (PubMed:9630247, PubMed:16723659, PubMed:30454648). Within the RNase P complex, POP1, POP7 and RPP25 form the 'finger' subcomplex, POP5, RPP14, RPP40 and homodimeric RPP30 form the 'palm' subcomplex, and RPP21, POP4 and RPP38 form the 'wrist' subcomplex. All subunits of the RNase P complex interact with the catalytic RNA (PubMed:30454648). Several subunits of RNase P are also part of the RNase MRP complex. RNase MRP consists of a catalytic RNA moiety and about 8 protein subunits; POP1, POP7, RPP25, RPP30, RPP38, RPP40 and possibly also POP4 and POP5 (PubMed:16723659, PubMed:28115465).
messages: Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:9630247, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465).
messages: nucleolus

9606:LUC7L
gene id: 9606:LUC7L
uniprot id: A8MYV2
uniprot id: D3DU41
uniprot id: Q1W6G4
uniprot id: Q9NQ29
names: Function
names: Miscellaneous
names: Similarity
names: Tissue Specificity
messages: Belongs to the Luc7 family.
messages: May be due to an intron retention.
messages: May bind to RNA via its Arg/Ser-rich domain.
messages: Ubiquitous.

9606:NKAIN4
gene id: 9606:NKAIN4
uniprot id: A6NNM2
uniprot id: B3KWY5
uniprot id: Q8IVV8
names: Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NKAIN family.
messages: Cell membrane
messages: Interacts with ATP1B1.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane

9606:CEP170
gene id: 9606:CEP170
uniprot id: Q5SW79
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the CEP170 family.
messages: Interacts with CCDC68 and CCDC120; leading to recruitment to centrosomes (PubMed:28422092). Interacts with PLK1 (PubMed:15616186). Interacts with NIN (By similarity). Interacts with FHDC1 (By similarity). Interacts with CCDC61 (PubMed:30354798, PubMed:31789463). Interacts with TBK1; efficient complex formation may be dependent on the presence of CCDC61 (PubMed:30354798).
messages: Phosphorylated; probably by PLK1.
messages: Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092).
messages: centriole
messages: centrosome
messages: spindle

9606:PTK2B
gene id: 9606:PTK2B
uniprot id: Q14289
names: Activity Regulation
names: Disease Annotation
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Aberrant PTK2B/PYK2 expression may play a role in cancer cell proliferation, migration and invasion, in tumor formation and metastasis. Elevated PTK2B/PYK2 expression is seen in gliomas, hepatocellular carcinoma, lung cancer and breast cancer.
messages: Activated in response to stimuli that lead to increased intracellular Ca(2+) levels; this activation is indirect and may be mediated by calcium-mediated production of reactive oxygen species (ROS). Activated by autophosphorylation at Tyr-402; this creates a binding site for SRC family kinases and leads to phosphorylation at additional tyrosine residues. Phosphorylation at Tyr-402, Tyr-579 and Tyr-580 is required for optimal kinase activity. Inhibited by PF-562,271, BIRB796, PF-4618433 and by PF-431396, PF-2318841 and their derivatives. Inhibited by sulfoximine-substituted trifluoromethylpyrimidines. Inhibited by 4-amino and 5-aryl substituted pyridinone compounds.
messages: Belongs to the protein kinase superfamily. Tyr protein kinase family. FAK subfamily.
messages: Cell membrane
messages: Cytoplasm
messages: Homodimer, or homooligomer. Interacts with SIRPA and SH2D3C. Interacts with ARHGAP10. Interacts with DLG4 (By similarity). Interacts with KCNA2 (By similarity). Interacts with NPHP1, ASAP1, ASAP2, ARHGAP26, SKAP2 and TGFB1I1. The Tyr-402 phosphorylated form interacts with SRC (via SH2 domain) and SRC family members. Forms a signaling complex with EPHA1, LCK and phosphatidylinositol 3-kinase; upon activation by EFNA1. Interacts with GRB2 (via SH2 domain). Interacts with P53/TP53 and MDM2. Interacts with MYLK. Interacts with BCAR1. Interacts with PDPK1. Interacts (hypophosphorylated) with PXN. Interacts with RB1CC1. Interacts with RHOU. Interacts with VAV1. Interacts with LPXN and PTPN12.
messages: Most abundant in the brain, with highest levels in amygdala and hippocampus. Low levels in kidney (at protein level). Also expressed in spleen and lymphocytes.
messages: Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses. Promotes osteoclastic bone resorption; this requires both PTK2B/PYK2 and SRC. May inhibit differentiation and activity of osteoprogenitor cells. Functions in signaling downstream of integrin and collagen receptors, immune receptors, G-protein coupled receptors (GPCR), cytokine, chemokine and growth factor receptors, and mediates responses to cellular stress. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Promotes activation of NOS3. Regulates production of the cellular messenger cGMP. Promotes activation of the MAP kinase signaling cascade, including activation of MAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rho family GTPases, such as RHOA and RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Acts as a scaffold, binding to both PDPK1 and SRC, thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373', and 'Tyr-376'. Promotes phosphorylation of NMDA receptors by SRC family members, and thereby contributes to the regulation of NMDA receptor ion channel activity and intracellular Ca(2+) lev…
messages: Nucleus
messages: Phosphorylated on tyrosine residues in response to various stimuli that elevate the intracellular calcium concentration; this activation is indirect and may be mediated by production of reactive oxygen species (ROS). Tyr-402 is the major autophosphorylation site, but other kinases can also phosphorylate Tyr-402. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-402 promotes interaction with SRC and SRC family members, leading to phosphorylation at Tyr-579; Tyr-580 and Tyr-881. Phosphorylation at Tyr-881 is important for interaction with GRB2. Phosphorylated on tyrosine residues upon activation of FGR and PKC. Recruitment by NPHP1 to cell matrix adhesions initiates Tyr-402 phosphorylation. In monocytes, adherence to substrata is required for tyrosine phosphorylation and kinase activation. Angiotensin II, thapsigargin and L-alpha-lysophosphatidic acid (LPA) also induce autophosphorylation and increase kinase activity. Phosphorylation by MYLK promotes ITGB2 activation and is thus essential to trigger neutrophil transmigration during lung injury. Dephosphorylated by PTPN12.
messages: Promotes bone resorption, and thus PTK2B/PYK2 inhibitors might be used to treat osteoporosis.
messages: cell cortex
messages: focal adhesion
messages: lamellipodium
messages: perinuclear region

9606:IP6K3
gene id: 9606:IP6K3
uniprot id: A8K1M0
uniprot id: Q5TAQ4
uniprot id: Q96PC2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the inositol phosphokinase (IPK) family.
messages: Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.
messages: Cytoplasm
messages: Detected in brain.

9606:DYNLT1
gene id: 9606:DYNLT1
uniprot id: P63172
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Mason-Pfizer monkey virus protein Gag.
messages: (Microbial infection) Interacts with human papillomavirus 16 L2 protein; this interaction is essential for virus intracellular transport during entry.
messages: (Microbial infection) Is involved in intracellular targeting of D-type retrovirus gag polyproteins to the cytoplasmic assembly site.
messages: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Binds to transport cargos and is involved in apical cargo transport such as rhodopsin-bearing vesicles in polarized epithelia. May also be a accessory component of axonemal dynein.
messages: Belongs to the dynein light chain Tctex-type family.
messages: Cytoplasm
messages: Expressed in heart, placenta, skeletal muscle kidney, pancreas, spleen, prostate, testis, ovary, ileum and colon. Expressed in lung endothelial and smooth muscle cells (at protein level).
messages: Golgi apparatus
messages: Homodimer (Probable). The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. DYNLT1 and DYNLT3 compete for association with dynein IC (DYNC1I1 or DYNC1I2). Self-associates. Interacts with DYNC1I1 and DYNC1I2. Interacts with RHO. Interacts with DOC2A, DOC2B and SCN10A. Interacts with PVR. Interacts with SVIL isoform 2. Interacts with BMPR2. Interacts with GNB1; the interaction occurs in presence of guanine nucleotide-binding protein G(T) subunit gamma; the interaction diminishes the association of DYNLT1 with dynein IC (DYNC1I1 or DYNC1I2). Interacts with GNB2, GNB3 and GNB5; the interactions occur in presence of guanine nucleotide-binding protein G(T) subunit gamma (By similarity). Interacts with ACVR2B and ARHGEF2. Interacts with DNAI4 (By similarity).
messages: Phosphorylated by BMPR2; the phosphorylation is abolished by BMPR2 mutations in exon 12 which lead to truncated forms of BMPR2 and which are linked to primary pulmonary hypertension (PPH1) [MIM:178600]. The phosphorylation status is proposed to regulate the association with the cytoplasmic dynein complex and may have role in cytoplasmic dynein cargo release (By similarity).
messages: Plays a role in neuronal morphogenesis; the function is independent of cytoplasmic dynein and seems to be coupled to regulation of the actin cytoskeleton by enhancing Rac1 activity. The function in neurogenesis may be regulated by association with a G-protein beta-gamma dimer. May function as a receptor-independent activator of heterotrimeric G-protein signaling; the activation appears to be independent of a nucleotide exchange. Plays a role in regulating neurogenesis; inhibits the genesis of neurons from precursor cells during cortical development presumably by antagonizing ARHGEF2. Involved in the regulation of mitotic spindle orientation (By similarity). Unrelated to the role in retrograde microtubule-associated movement may play a role in the dimerization of cytoplasmic proteins/domains such as for ACVR2B. Binds to the cytoplasmic domain of ACVR2B and, in vitro, inhibits ACVR2B signaling (PubMed:27502274).
messages: spindle

9606:GYPC
gene id: 9606:GYPC
uniprot id: P04921
names: Function
names: PTM
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycophorin-C family.
messages: Cell membrane
messages: Deletion of exon 3 in GYPC results in resistance to Plasmodium falciparum invasion and protection against severe malaria [MIM:611162].
messages: GYPC is responsible for the Gerbich blood group system (Ge) [MIM:616089]. Ge negative individuals carry a deletion of GYPC exon 3.
messages: Glycophorin-C is expressed in erythrocytes. Glycophorin-D and IsoGPC are ubiquitously expressed.
messages: O-glycosylated with core 1 or possibly core 8 glycans.
messages: This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells.

9606:KIF16B
gene id: 9606:KIF16B
uniprot id: A0A140VK74
uniprot id: A0A1B0GTU3
uniprot id: Q96L93
names: Domain
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Early endosome membrane
messages: Interacts with RAB14 (By similarity). Interacts with PTPN21.
messages: Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. Regulates the plus end motility of early endosomes and the balance between recycling and degradation of receptors such as EGF receptor (EGFR) and FGF receptor (FGFR). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development.
messages: Primarily expressed in brain. Also present in kidney, liver, intestine, placenta, leukocytes, heart and skeletal muscle (at protein level).
messages: The PX domain mediates binding to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2), phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3). Does not bind phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2).
messages: cytoskeleton
messages: spindle

9606:MRPS27
gene id: 9606:MRPS27
uniprot id: A0A024RAJ1
uniprot id: G5EA06
uniprot id: Q92552
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the mitochondrion-specific ribosomal protein mS27 family.
messages: Component of the mitochondrial small ribosomal subunit (mt-SSU) (PubMed:22841715, PubMed:25838379). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit (PubMed:25838379). The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins (PubMed:25838379). The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins (PubMed:25838379). Interacts with NOA1 (PubMed:19103604). Interacts with MIEF1 upstream open reading frame protein (PubMed:30215512). Interacts with METTL17 (By similarity).
messages: Cytoplasm
messages: Mitochondrion
messages: Overexpressed in hepatocellular carcinoma tissues compared with adjacent non-tumoral liver tissues (at protein level) (PubMed:28714366). Ubiquitous (PubMed:22841715).
messages: RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis (PubMed:22841715). Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain (PubMed:22841715). Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu) (PubMed:22841715). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:28714366).

9606:SLC16A8
gene id: 9606:SLC16A8
uniprot id: O95907
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
messages: Probable retinal pigment epithelium (RPE)-specific proton-coupled L-lactate transporter (By similarity). May facilitate transport of lactate and H(+) out of the retina and could therefore play a role in pH and ion homeostasis of the outer retina (By similarity).
messages: Retinal pigment epithelium.
messages: The two basolateral sorting signals (BSS) are required to direct SLC16A8 to the basolateral membrane.

9606:RRN3
gene id: 9606:RRN3
uniprot id: B7ZB55
uniprot id: F5H148
uniprot id: Q9NYV6
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the RRN3 family.
messages: Interacts with POLR1F, EIF3L, TAF1B and TAF1C.
messages: Phosphorylation is required for participation in rDNA transcription (By similarity). Phosphorylated at Thr-200 by MAPK9/JNK2, which abrogates initiation complex formation.
messages: Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity).
messages: nucleolus

9606:ENAM
gene id: 9606:ENAM
uniprot id: Q9NRM1
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.
messages: Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.
messages: Phosphorylated by FAM20C in vitro.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: extracellular matrix

9606:KIF12
gene id: 9606:KIF12
uniprot id: Q96FN5
names: Disease Annotation
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
messages: Expressed in fetal liver, adult brain and pancreatic islet as well as in kidney tumors, uterus cancer and pancreatic cancer.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton

9606:GSTA2
gene id: 9606:GSTA2
uniprot id: A0A140VKE2
uniprot id: A8K987
uniprot id: P09210
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GST superfamily. Alpha family.
messages: Catalyzes the conjugation of glutathione to a large variety of electrophilic compounds.
messages: Cytoplasm
messages: Homodimer or heterodimer of GSTA1 and GSTA2.
messages: Liver.

9606:ZC3HAV1L
gene id: 9606:ZC3HAV1L
uniprot id: Q96H79
names: Caution
messages: Despite its name, it does not contain a canonical C3H1-type zinc-finger.

9606:SLC38A4
gene id: 9606:SLC38A4
uniprot id: Q969I6
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the amino acid/polyamine transporter 2 family.
messages: Cell membrane
messages: Expressed almost exclusively in embryonic and adult liver, and at lower levels in the kidney (PubMed:11342143, PubMed:11414754). Expressed at lower levels in adult muscle and pancreas (PubMed:11414754). Detected in fetal blood vessels (PubMed:16148032). Expressed in syncytiotrophoblas of placenta during first trimester and at term (PubMed:19015196, PubMed:16148032). Highly expressed in first trimester placenta compared to term placenta (PubMed:19015196).
messages: Symporter that cotransports neutral amino acids and sodium ions from the extraccellular to the intracellular side of the cell membrane (PubMed:11342143, PubMed:19015196, PubMed:33928121). The transport is electrogenic, pH dependent and partially tolerates substitution of Na(+) by Li(+) (PubMed:11414754). Preferentially transports smaller amino acids, such as glycine, L-alanine, L-serine, L-asparagine and L-threonine, followed by L-cysteine, L-histidine, L-proline and L-glutamine and L-methionine (PubMed:11414754, PubMed:33928121).
messages: The disulfide bond plays an important role in substrate transport, but has no effect on trafficking to the cell surface.
messages: There is a disagreement about sodium-independent transport of cationic amino acids, such as L-arginine and L-lysine. While Hatanaka et al (PubMed:11342143) shown that SLC38A4 may mediate sodium-independent transport of cationic amino acids, such as L-arginine and L-lysine (PubMed:11342143). Recent studies by Fairweather et al (PubMed:33928121), using quantitative LC-MS analysis, shown any transport activity of cationic amino acids, such as L-arginine and L-lysine (PubMed:33928121).
messages: microvillus membrane

9606:HM13
gene id: 9606:HM13
uniprot id: A0A0S2Z5V7
uniprot id: Q8TCT9
names: Domain
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase A22B family.
messages: Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides (PubMed:11714810). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein (PubMed:12145199). Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945). May play a role in graft rejection (By similarity).
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Intron retention.
messages: Membrane
messages: Monomer (PubMed:15385547, PubMed:15998642). Homodimer (PubMed:15385547, PubMed:15998642). Interacts with RNF139 (PubMed:19720873, PubMed:25239945). Interacts with DERL1 and XBP1 isoform 1 (PubMed:25239945).
messages: N-glycosylated.
messages: The first transmembrane domain may act as a type I signal anchor (PubMed:12077416, PubMed:15385547). The PAL motif is required for normal active site conformation (By similarity).
messages: Widely expressed with highest levels in kidney, liver, placenta, lung, leukocytes and small intestine and reduced expression in heart and skeletal muscle. Expressed abundantly in the CNS with highest levels in thalamus and medulla.

9606:MYBPC3
gene id: 9606:MYBPC3
uniprot id: Q14896
names: Disease Annotation
names: Function
names: PTM
names: Similarity
messages: Belongs to the immunoglobulin superfamily. MyBP family.
messages: MYBPC3 mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness.
messages: Polyubiquitinated.
messages: Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

9606:CREBL2
gene id: 9606:CREBL2
uniprot id: O60519
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the bZIP family. ATF subfamily.
messages: Interacts with CREB1; regulates CREB1 phosphorylation, stability and transcriptional activity.
messages: Nucleus
messages: Phosphorylated by AMPK.
messages: Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor.

9606:RASGEF1A
gene id: 9606:RASGEF1A
uniprot id: Q8N9B8
names: Function
names: Tissue Specificity
messages: Detected in brain and spinal cord. Highly expressed in a number of intrahepatic cholangiocarcinoma tissue biopsies.
messages: Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration.

9606:MFGE8
gene id: 9606:MFGE8
uniprot id: A0A8Q3SIZ9
uniprot id: B3KTQ2
uniprot id: H0YKB5
uniprot id: Q08431
names: Caution
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Tissue Specificity
messages: It is unsure whether Met-1 or an upstream Met is the initiator as the upstream Met corresponds to polymorphism rs1879326.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Main constituent of aortic medial amyloid.
messages: Mammary epithelial cell surfaces and aortic media. Overexpressed in several carcinomas.
messages: Medin has a ragged N-terminus with minor species starting at Pro-264 and Gly-273.
messages: Membrane
messages: Plays an important role in the maintenance of intestinal epithelial homeostasis and the promotion of mucosal healing. Promotes VEGF-dependent neovascularization (By similarity). Contributes to phagocytic removal of apoptotic cells in many tissues. Specific ligand for the alpha-v/beta-3 and alpha-v/beta-5 receptors. Also binds to phosphatidylserine-enriched cell surfaces in a receptor-independent manner. Zona pellucida-binding protein which may play a role in gamete interaction.
messages: Secreted
messages: The F5/8 type C 2 domain mediates high-affinity binding to phosphatidylserine-containing membranes.
messages: acrosome membrane

9606:NAGA
gene id: 9606:NAGA
uniprot id: A0A024R1Q5
uniprot id: P17050
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Alpha-galactosidase B was first found to be an isoenzyme of alpha-galactosidases, but apparently it differs from alpha-galactosidase A in substrate specificity and is alpha-N-acetylgalactosaminidase.
messages: Belongs to the glycosyl hydrolase 27 family.
messages: Homodimer.
messages: Lysosome
messages: Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PDIA2
gene id: 9606:PDIA2
uniprot id: Q13087
names: Function
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded proteins.
messages: Belongs to the protein disulfide isomerase family.
messages: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
messages: Endoplasmic reticulum lumen
messages: Glycosylated.
messages: Highly expressed in pancreas (at protein level).
messages: Monomer; predominantly as monomer under reducing conditions. Homodimer; disulfide-linked. Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGGT1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX.
messages: The disulfide-linked homodimer exhibits an enhanced chaperone activity.

9606:OR13H1
gene id: 9606:OR13H1
uniprot id: A0A126GW70
uniprot id: Q8NG92
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:CCDC80
gene id: 9606:CCDC80
uniprot id: Q76M96
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CCDC80 family.
messages: Binds to various extracellular matrix proteins.
messages: Down-regulated in cancer and after osteoblastic differentiation. Up-regulated by dihydrotestosterone (DHT).
messages: Expressed in dermal papilla and dermal fibroblasts (at protein level). Expressed in heart, thymus, placenta, pancreas, colon, epithelium, spleen and osteoblasts.
messages: Phosphorylated.
messages: Promotes cell adhesion and matrix assembly.
messages: extracellular matrix

9606:THSD1
gene id: 9606:THSD1
uniprot id: Q9NS62
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Endosome membrane
messages: Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix.
messages: Membrane
messages: Part of a complex composed of THSD1, PTK2/FAK1, TLN1 and VCL (PubMed:29069646). Interacts with TLN1 (PubMed:27895300, PubMed:29069646).
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: focal adhesion

9606:MYF5
gene id: 9606:MYF5
uniprot id: P13349
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Efficient DNA binding requires dimerization with another bHLH protein.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation (PubMed:29887215). Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.

9606:PLAT
gene id: 9606:PLAT
uniprot id: B4DN26
uniprot id: P00750
names: Activity Regulation
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Pharmaceutical
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Available under the names Activase (Genentech) and Retavase (Centocor and Roche) [Retavase is a fragment of TPA that contains kringle 2 and the protease domain; it was also known as BM 06.022]. Used in Acute Myocardial Infarction (AMI), in Acute Ischemic Stroke (AIS) and Pulmonary Embolism (PE) to initiate fibrinolysis.
messages: Belongs to the peptidase S1 family.
messages: Both FN1 and EGF-like domains are important for binding to LRP1.
messages: Both FN1 and one of the kringle domains are required for binding to fibrin.
messages: Characterization of O-linked glycan was studied in Bowes melanoma cell line.
messages: Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. During oocyte activation, plays a role in cortical granule reaction in the zona reaction, which contributes to the block to polyspermy (By similarity).
messages: Differential cell-specific N-linked glycosylation gives rise to two glycoforms, type I (glycosylated at Asn-219) and type II (not glycosylated at Asn-219). The single chain type I glycoform is less readily converted into the two-chain form by plasmin, and the two-chain type I glycoform has a lower activity than the two-chain type II glycoform in the presence of fibrin.
messages: Heterodimer of chain A and chain B held by a disulfide bond. Forms a heterodimer with SERPINA5. Binds to fibrin with high affinity. This interaction leads to an increase in the catalytic efficiency of the enzyme between 100-fold and 1000-fold, due to an increase in affinity for plasminogen. Similarly, binding to heparin increases the activation of plasminogen. Binds to annexin A2, cytokeratin-8, fibronectin and laminin. Binds to mannose receptor and the low-density lipoprotein receptor-related protein (LRP1); these proteins are involved in TPA clearance. Yet unidentified interactions on endothelial cells and vascular smooth muscle cells (VSMC) lead to a 100-fold stimulation of plasminogen activation. In addition, binding to VSMC reduces TPA inhibition by PAI-1 by 30-fold. Binds LRP1B; binding is followed by internalization and degradation. In complex with SERPINE1, interacts with SORL1 (PubMed:15053742).
messages: Increased activity of TPA results in increased fibrinolysis of fibrin blood clots that is associated with excessive bleeding. Defective release of TPA results in hypofibrinolysis that can lead to thrombosis or embolism.
messages: Inhibited by SERPINA5.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: N-glycosylation of Asn-152; the bound oligomannosidic glycan is involved in the interaction with the mannose receptor.
messages: Synthesized in numerous tissues (including tumors) and secreted into most extracellular body fluids, such as plasma, uterine fluid, saliva, gingival crevicular fluid, tears, seminal fluid, and milk.
messages: The FN1 domain mediates binding to annexin A2.
messages: The second kringle domain is implicated in binding to cytokeratin-8 and to the endothelial cell surface binding site.
messages: The single chain, almost fully active enzyme, can be further processed into a two-chain fully active form by a cleavage after Arg-310 catalyzed by plasmin, tissue kallikrein or factor Xa.
messages: extracellular space

9606:MRPL3
gene id: 9606:MRPL3
uniprot id: P09001
names: Disease Annotation
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the universal ribosomal protein uL3 family.
messages: Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
messages: Mitochondrion
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ZNF622
gene id: 9606:ZNF622
uniprot id: Q969S3
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the REI1 family.
messages: Cytoplasm
messages: Expressed in lung, kidney, spleen, liver and brain with lowest expression in kidney.
messages: Homo- and heterodimer. Associates with pre-60S ribosomal particles (PubMed:32669547). Interacts with MELK and MYBL2 (PubMed:11802789, PubMed:12645566). Interacts with DNAJC21 (PubMed:27346687).
messages: Nucleus
messages: Phosphorylated by MELK. The phosphorylation may redirect the protein to the nucleus.
messages: Pre-60S-associated cytoplasmic factor involved in the cytoplasmic maturation of the 60S subunit.
messages: Ubiquitinated by HECTD1, leading to its degradation.

9606:GALNT3
gene id: 9606:GALNT3
uniprot id: Q14435
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
messages: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (PubMed:8663203, PubMed:9295285, PubMed:16638743, PubMed:31932717). Has activity toward HIV envelope glycoprotein gp120, EA2, MUC2, MUC1A and MUC5AC (PubMed:8663203, PubMed:9295285). Probably glycosylates fibronectin in vivo (PubMed:9295285). Glycosylates FGF23 (PubMed:16638743, PubMed:31932717).
messages: Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas, skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and lung and fetal lung and fetal kidney.
messages: Golgi stack membrane
messages: Overexpressed in many differentiated carcinomas, suggesting that it may serve as a marker of tumor differentiation.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By similarity). Essential for glycosylation of FGF23 (PubMed:31932717).
messages: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.

9606:ITCH
gene id: 9606:ITCH
uniprot id: Q96J02
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with Epstein-Barr virus LMP2A.
messages: (Microbial infection) Interacts with Human cytomegalovirus (HCMV) protein UL42; this interaction induces ubiquitination and degradation of ITCH.
messages: (Microbial infection) Interacts with ebola virus protein VP40; this interaction is required for efficient viral egress from the infected cell.
messages: (Microbial infection) Interacts with herpesvirus 1 (HHV-1) UL56 protein; this interaction induces ubiquitination and probably degradation of ITCH.
messages: (Microbial infection) Interacts with herpesvirus 2 (HHV-2) UL56 protein.
messages: (Microbial infection) Interacts with herpesvirus 6A (HHV-6A) U24 protein.
messages: (Microbial infection) Interacts with influenza A virus matrix protein 1.
messages: (Microbial infection) Interacts with varicella-zoster virus (VZV) Orf0 protein.
messages: Activated by NDFIP1- and NDFIP2-binding (PubMed:25631046). Activated by PI4K2A-binding (PubMed:23146885). Inhibited by DTX3L-binding (PubMed:24790097). Inhibited by N4BP1 binding (By similarity).
messages: Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:14602072, PubMed:17028573, PubMed:16387660, PubMed:18718448, PubMed:18718449, PubMed:11046148, PubMed:19592251, PubMed:19116316, PubMed:19881509, PubMed:20491914, PubMed:20392206, PubMed:20068034, PubMed:23146885, PubMed:24790097, PubMed:25631046, PubMed:15051726). Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation (PubMed:17028573, PubMed:18718448, PubMed:19131965, PubMed:19881509). Involved in the control of inflammatory signaling pathways (PubMed:19131965). Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways (PubMed:19131965). Promotes the association of the complex after TNF stimulation (PubMed:19131965). Once the complex is formed, TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:19131965). This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1 (PubMed:19131965). Ubiquitinates RIPK2 by 'Lys-63'-linked conjugation and influences NOD2-dependent signal transduction pathways (PubMed:19592251). Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response (PubMed:18718448, PubMed:20491914). Ubiquitinates NFE2 by 'Lys-63' linkages and is implicated in the control of the development of hematopoietic lineages (PubMed:18718448). Mediates JUN ubiquitination and degradation (By similarity). Mediates JUNB ubiquitination and degradation (PubMed:16387660). Critical regulator of type 2 helper T (Th2) cell cytokine production by inducing JUNB ubiquitination and degradation (By similarity). Involved in the ne…
messages: Cell membrane
messages: Cytoplasm
messages: Early endosome membrane
messages: Endosome membrane
messages: Monomer. Part of a ternary complex composed of SMAD3, ITCH/AIP4 and NEDD9/HEF1; within the complex NEDD9/HEF1 interacts (via N-terminus) with ITCH/AIP4 (via WW domains); the complex mediates ubiquitination and proteosomal degradation of NEDD9/HEF1 (PubMed:15051726). Interacts (via WW domains) with OCNL (By similarity). Interacts (via WW domains) with NOTCH1 (By similarity). Interacts (via WW domains) with JUN (By similarity). Interacts with JUNB; the interaction promotes ITCH-mediated ubiquitination and degradation of JUNB (PubMed:16387660). Interacts with FYN; the interaction phosphorylates ITCH on Tyr-420 decreasing binding of JUNB (PubMed:16387660). Interacts (via WW domain 2) with N4BP1; the interaction inhibits the E3 ubiquitin-protein ligase activity (By similarity). Interacts with NDFIP1 and NDFIP2; this interaction activates the E3 ubiquitin-protein ligase and may induce its recruitment to exosomes (By similarity). Interacts with ARHGEF7 (PubMed:17652093). Interacts with RNF11 (PubMed:14559117, PubMed:19131965). Interacts (via the WW 1 domain) with NFE2 (via the PXY motif 1); the interaction promotes 'Lys-63'-linked ubiquitination of NFE2, retains it in the cytoplasm and prevents its transactivation activity (PubMed:11318614, PubMed:18718448). Interacts (via WW domains) with CXCR4 (via C-terminus); the interaction depends on CXCR4 phosphorylation (PubMed:19116316). Found in a complex with E3 ligase DTX3L and ESCRT-0 components HGS and STAM (PubMed:24790097). Interacts with DTX3L (via C-terminus); the interaction is increased upon CXCL12 stimulation and inhibits ITCH catalytic activity (the interaction is direct) (PubMed:24790097). Interacts with HGS (PubMed:14602072). Interacts (via WW domains) with PCBP2 within a complex containing ITCH, MAVS and PCBP2 (PubMed:19881509). Interacts (via WW domains) with TXNIP (via C-terminus) (PubMed:20068034). Interacts with p15 BID (PubMed:20392206). Interacts with ERBB4 (PubMed:20858735). Interacts with DTX1 (PubMed:17028…
messages: Monoubiquitinated (PubMed:19116316). Autopolyubiquitinated with 'Lys-63' linkages which does not lead to protein degradation (PubMed:18718449, PubMed:23146885, PubMed:24790097).
messages: Nucleus
messages: On T-cell activation, phosphorylation by the JNK cascade on serine and threonine residues surrounding the PRR domain accelerates the ubiquitination and degradation of JUN and JUNB. The increased ITCH catalytic activity due to phosphorylation by JNK1 may occur due to a conformational change disrupting the interaction between the PRR/WW motifs domain and the HECT domain and, thus exposing the HECT domain (By similarity). Phosphorylation by FYN reduces interaction with JUNB and negatively controls JUN ubiquitination and degradation.
messages: The WW domain 4 mediates interaction with ENTREP1.
messages: The WW domains mediate interaction with PPxY motif-containing proteins.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.

9606:SLC35G3
gene id: 9606:SLC35G3
uniprot id: Q8N808
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SLC35G solute transporter family.
messages: Expressed in testis.
messages: Membrane
messages: The gene encoding this protein appears to have arisen by SVA-mediated retrotransposition of the SLC35G6 gene in the primate lineage.

9606:MFSD14B
gene id: 9606:MFSD14B
uniprot id: Q5SR56
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the major facilitator superfamily.
messages: Membrane

9606:HAGHL
gene id: 9606:HAGHL
uniprot id: B4DED4
uniprot id: Q6PII5
names: Cofactor
names: Function
names: Sequence Caution
names: Similarity
messages: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
messages: Binds 2 Zn(2+) ions per subunit.
messages: Hydrolase acting on ester bonds.
messages: Sequence of unknown origin at the C-terminus.

9606:NSMCE1
gene id: 9606:NSMCE1
uniprot id: Q8WV22
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the NSE1 family.
messages: Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3. NSMCE1, NSMCE4A or EID3 and NSMCE3 probably form a subcomplex that bridges the head domains of the SMC5-SMC6 heterodimer (PubMed:18086888, PubMed:20864041). Interacts with NSMCE3 (PubMed:27427983). Interacts with MAGEF1 (PubMed:29225034).
messages: Nucleus
messages: RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair (PubMed:29225034, PubMed:20864041). NSMCE3/MAGEG1 and NSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex and may positively regulate homologous recombination-mediated DNA repair (PubMed:18086888). MAGEF1-NSMCE1 ubiquitin ligase promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors (PubMed:29225034).
messages: Ubiquitinated.
messages: telomere

9606:ATRAID
gene id: 9606:ATRAID
uniprot id: Q6UW56
names: Function
names: Induction
names: Miscellaneous
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Interacts with NELL1; the interaction promotes osteoblastic differentiation and mineralization.
messages: Nucleus envelope
messages: Produced by alternative promoter usage.
messages: Produced by alternative splicing of isoform 1.
messages: Promotes osteoblast cell differentiation and terminal mineralization. Plays a role in inducing the cell cycle arrest via inhibiting CCND1 expression in all-trans-retinoic acid (ATRA) signal pathway.
messages: Up-regulated by all-trans-retinoic acid (ATRA) in several tumor cell lines.
messages: Weakly expressed in hematopoietic cell lines.

9606:PNN
gene id: 9606:PNN
uniprot id: Q9H307
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the pinin family.
messages: Expressed in placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, epidermis, esophagus, brain and smooth and skeletal muscle. Expressed strongly in melanoma metastasis lesions and advanced primary tumors.
messages: Found in a mRNA splicing-dependent exon junction complex (EJC). Found in a complex with SR proteins. Found in a mRNP complex with RNPS1. Component of the PSAP complex consisting of RNPS1, SAP18 and PNN. Interacts with PNISR, CTBP1, CTBP2, KRT8, KRT18, KRT19, PS1D/PNO40, PPIG, RNPS1, SFRS4 and SRRM2. Identified in the spliceosome C complex.
messages: Nucleus speckle
messages: Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation of alternative pre-mRNA splicing. Associates to spliced mRNA within 60 nt upstream of the 5'-splice sites. Component of the PSAP complex which binds RNA in a sequence-independent manner and is proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. Involved in the establishment and maintenance of epithelia cell-cell adhesion. Potential tumor suppressor for renal cell carcinoma.
messages: desmosome

9606:TMEM184C
gene id: 9606:TMEM184C
uniprot id: Q9NVA4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TMEM184 family.
messages: Membrane
messages: Possible tumor suppressor which may play a role in cell growth.
messages: Widely expressed with higher expression in lung, kidney, spleen, pancreas, thymus, prostate, testis, ovary, small intestine and thyroid.

9606:PCYOX1
gene id: 9606:PCYOX1
uniprot id: Q9UHG3
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the prenylcysteine oxidase family.
messages: Lysosome
messages: Prenylcysteine oxidase that cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine (PubMed:10585463, PubMed:11078725, PubMed:12186880). Only active against free prenylcysteines and not prenylcysteine residues within prenylated proteins or peptides (By similarity). Involved in the final step in the degradation of prenylated proteins, by degrading prenylcysteines after the protein has been degraded (PubMed:10585463).
messages: Was originally thought to be a lyase and was therefore termed prenylcysteine lyase.
messages: Widely expressed.

9606:NPFFR2
gene id: 9606:NPFFR2
uniprot id: A0A804CC06
uniprot id: A0PJM9
uniprot id: Q9Y5X5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Isoform 1 is abundant in placenta. Relatively highly expressed in thymus, testis, and small intestine. Expressed at low levels in several tissues including spleen, prostate, brain, heart, ovary, colon, kidney, lung, liver and pancreas and not expressed in skeletal muscle and leukocytes. Isoform 2 expression is highest in placenta (but at relatively low level compared to isoform 1). Very low level of expression in numerous tissues including adipose tissue and many brain regions. Isoform 3 is expressed in brain and heart and, at lower levels, in kidney, liver, lung and pancreas.
messages: Membrane
messages: Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.

9606:CCL22
gene id: 9606:CCL22
uniprot id: O00626
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the intercrine beta (chemokine CC) family.
messages: Highly expressed in macrophage and in monocyte-derived dendritic cells, and thymus. Also found in lymph node, appendix, activated monocytes, resting and activated macrophages. Lower expression in lung and spleen. Very weak expression in small intestine. In lymph node expressed in a mature subset of Langerhans' cells (CD1a+ and CD83+). Expressed in Langerhans' cell histiocytosis but not in dermatopathic lymphadenopathy. Expressed in atopic dermatitis, allergic contact dermatitis skin, and psoriasis, in both the epidermis and dermis.
messages: May play a role in the trafficking of activated/effector T-lymphocytes to inflammatory sites and other aspects of activated T-lymphocyte physiology. Chemotactic for monocytes, dendritic cells and natural killer cells. Mild chemoattractant for primary activated T-lymphocytes and a potent chemoattractant for chronically activated T-lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting T-lymphocytes. Binds to CCR4. Processed forms MDC(3-69), MDC(5-69) and MDC(7-69) seem not be active.
messages: Secreted
messages: The N-terminal processed forms MDC(3-69), MDC(5-69) and MDC(7-69) are produced by proteolytic cleavage after secretion from monocyte derived dendrocytes.

9606:GSTZ1
gene id: 9606:GSTZ1
uniprot id: A0A0C4DFM0
uniprot id: O43708
names: Cofactor
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the GST superfamily. Zeta family.
messages: Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid.
messages: Cytoplasm
messages: Glutathione is required for the MAAI activity.
messages: Homodimer.
messages: Mostly expressed in liver followed by kidney, skeletal muscle and brain. Also expressed in melanocytes, synovium, placenta, breast and fetal liver and heart.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:KCTD1
gene id: 9606:KCTD1
uniprot id: Q719H9
names: Disease Annotation
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Can form homodimers. Interacts with TFAP2A, TFAP2B and TFAP2C via the BTB domain.
messages: Expressed in mammary gland, kidney, brain and ovary.
messages: May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.
messages: Nucleus
messages: Sumoylated.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NDUFB9
gene id: 9606:NDUFB9
uniprot id: E9PH64
uniprot id: Q9Y6M9
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
messages: Belongs to the complex I LYR family.
messages: Mammalian complex I is composed of 45 different subunits.
messages: Mitochondrion inner membrane
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:KRTAP4-8
gene id: 9606:KRTAP4-8
uniprot id: Q9BYQ9
names: Function
names: Polymorphism
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the KRTAP type 4 family.
messages: Expressed in the hair follicles.
messages: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
messages: Interacts with hair keratins.
messages: Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084). The sequence shown corresponds to allele KAP4.8-v1 (PubMed:15955084).

9606:FNDC10
gene id: 9606:FNDC10
uniprot id: F2Z333
names: Subcellular Location Annotation
messages: Membrane

9606:PCSK1N
gene id: 9606:PCSK1N
uniprot id: Q9UHG2
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Endogenous ligand for GPR171. Neuropeptide involved in the regulation of feeding.
messages: Expressed in brain and pancreas.
messages: Interacts via the C-terminal inhibitory domain with PCSK1 66 kDa form.
messages: May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timing of PCSK1 rather than its total level of activity (By similarity).
messages: O-glycosylated with a core 1 or possibly core 8 glycan.
messages: ProSAAS(1-180) increases secretion of enzymatically inactive PCSK1.
messages: Proteolytically cleaved in the Golgi.
messages: Secreted
messages: The C-terminal inhibitory domain is involved in inhibition of PCSK1. It corresponds to the probable processing intermediate Big PEN-LEN, binds to PCSK1 in vitro and contains the hexapeptide L-L-R-V-K-R, which, as a synthetic peptide, is sufficient for PCSK1 inhibition (By similarity).
messages: The four C-terminal amino acids of Big LEN are sufficient to bind and activate GPR171.
messages: trans-Golgi network

9606:CLNK
gene id: 9606:CLNK
uniprot id: Q7Z7G1
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
messages: An adapter protein which plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation (By similarity). Together with FGR, it acts as a negative regulator of natural killer cell-activating receptors and inhibits interferon-gamma production (By similarity). Acts as a positive regulator of both T-cell receptor and natural killer T (NKT) cell receptor signaling in CD4-positive NKT cells (By similarity). Together with MAP4K1, it enhances CD3-triggered activation of T-cells and subsequent IL2 production (By similarity). May be involved in tumor necrosis factor induced cell death by promoting reactive oxidative species generation, and MLKL oligomerization, ultimately leading to necrosis (By similarity). Involved in phosphorylation of LAT (By similarity). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity).
messages: Cytoplasm
messages: The N-terminal proline-rich region interacts with the SH3 domain of PLCG1.
messages: The SH2 domain is important for restoration of BCR-induced calcium response and JNK2 activation in BLNK-deficient DT40 cells expressing LAT.
messages: Tyrosine-phosphorylated upon BCR cross-linking. Tyrosine phosphorylation at both Tyr-69 and Tyr-96 are required for BCR-induced calcium response and are essential to restore PLCG2-mediated signaling in BLNK-deficient DT40 cells, but this phosphorylation is dispensable in cells expressing LAT. Interacts with the SH2 domain of PLCG1 via phosphorylated Tyr-96 (By similarity). Tyrosine phosphorylation is increased when complexed with SKAP1 and FYB1 (By similarity).
messages: When phosphorylated, interacts with PLCG1, PLCG2, GRB2, VAV and LAT (By similarity). Interacts with LBR and AGO2 (PubMed:26009488). Interacts with FGR (By similarity). Part of a complex consisting of CLNK, SKAP1 and FYB1 (By similarity). Interacts (via SH2 domain) with FYB1; this interaction allows SKAP1 and FYB1 to promote tyrosine phosphorylation of CLNK by LYN (By similarity). Interacts (via SH2 domain) with MAP4K1 (By similarity).

9606:CSPG4
gene id: 9606:CSPG4
uniprot id: Q6UVK1
names: Function
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with C.difficile toxin TcdB, suggesting that it may act as a receptor for TcdB.
messages: Apical cell membrane
messages: Cell membrane
messages: Cell surface
messages: Detected only in malignant melanoma cells.
messages: Interacts with the first PDZ domain of MPDZ. Interacts with PRKCA. Binds TNC, laminin-1, COL5A1 and COL6A2. Interacts with PLG and angiostatin. Binds FGF2 and PDGFA. Interacts with GRIP1, GRIP2 and GRIA2. Forms a ternary complex with GRIP1 and GRIA2 (By similarity). Interacts with LGALS3 and the integrin composed of ITGB1 and ITGA3. Interacts with ITGA4 through its chondroitin sulfate glycosaminoglycan. Interacts with BCAR1, CDC42 and ACK1. Interacts with MMP16.
messages: O-glycosylated; contains glycosaminoglycan chondroitin sulfate which are required for proper localization and function in stress fiber formation (By similarity). Involved in interaction with MMP16 and ITGA4.
messages: Phosphorylation by PRKCA regulates its subcellular location and function in cell motility.
messages: Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Functions also as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin-mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades.
messages: Valuable marker for several incompletely differentiated precursor cells.
messages: lamellipodium membrane

9606:NAV1
gene id: 9606:NAV1
uniprot id: Q8NEY1
names: Developmental Stage
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Nav/unc-53 family.
messages: Broadly expressed at low levels. Expressed at high levels in heart, skeletal muscle and placenta.
messages: Expressed in fetal brain and heart.
messages: Interacts with tubulin.
messages: May be involved in neuronal migration.
messages: cytoskeleton

9606:RBBP7
gene id: 9606:RBBP7
uniprot id: Q16576
uniprot id: Q6FHQ0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the WD repeat RBAP46/RBAP48/MSI1 family.
messages: Binds directly to helix 1 of the histone fold of histone H4, a region that is not accessible when H4 is in chromatin (PubMed:18571423). Subunit of the type B histone acetyltransferase (HAT) complex, composed of RBBP7 and HAT1. Subunit of the core histone deacetylase (HDAC) complex, which is composed of HDAC1, HDAC2, RBBP4 and RBBP7. The core HDAC complex associates with SIN3A, ARID4B/SAP180, SAP18, SAP30, SAP130, SUDS3/SAP45 and possibly ARID4A/RBP1 and ING1 to form the SIN3 HDAC complex. The core HDAC complex may also associate with MTA2, MBD3, CHD3 and CHD4 to form the nucleosome remodeling and histone deacetylase complex (the NuRD complex). The NuRD complex may also interact with MBD3L1 and MBD3L2. Interacts with MTA1. Subunit of the PRC2/EED-EZH2 complex, which is composed of at least EED, EZH2, RBBP4, RBBP7 and SUZ12 (PubMed:12435631). The PRC2/EED-EZH2 complex may also associate with HDAC1. Component of the NURF-1 ISWI chromatin remodeling complex (also called the nucleosome-remodeling factor (NURF) complex) at least composed of SMARCA1 (isoform 2), BPTF, RBBP4 and RBBP7 (PubMed:14609955, PubMed:15310751). Within the complex interacts with isoform 2 of SMARCA1 (PubMed:14609955, PubMed:15310751). Component of the BPFT-SMARCA1 complex at least composed of SMARCA1 (isoform 1), BPFT, RBBP4 and RBBP7; the complex is catalytically inactive and does not remodel chromatin (PubMed:15310751). Within the complex interacts with isoform 1 of SMARCA1 (PubMed:15310751). Interacts with the viral protein-binding domain of the retinoblastoma protein (RB1) (PubMed:7503932, PubMed:10220405). Interacts with CREBBP, and this interaction may be enhanced by the binding of phosphorylated CREB1 to CREBBP. Interacts with BRCA1, HDAC7 and SUV39H1. Interacts with CENPA (PubMed:25556658). Interacts with PWWP2B (By similarity).
messages: Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; and the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex.
messages: Nucleus

9606:KRT71
gene id: 9606:KRT71
uniprot id: Q3SY84
names: Developmental Stage
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the intermediate filament family.
messages: Heterodimer of a type I and a type II keratin. Associates with KRT16 and/or KRT17 (By similarity).
messages: Highly expressed in hair follicles from scalp. Specifically expressed in the inner root sheath (IRS) of the hair follicle. Present in the all 3 IRS layers: the cuticle, the Henle and the Huxley layers. Also detected in the pseudopods of specialized Huxley cells, termed Fluegelzellen, along the area of differentiated Henle cells (at protein level).
messages: In all 3 IRS layers, expression begins simultaneously in adjacent cells of the lowermost bulb above the germinative cell pool and terminated higher up in the follicle with the asynchronous terminal differentiation of each cell layer (at protein level).
messages: Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).
messages: cytoskeleton

9606:CLDN20
gene id: 9606:CLDN20
uniprot id: A0A140VKA2
uniprot id: P56880
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the claudin family.
messages: Cell membrane
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
messages: tight junction

9606:LMOD1
gene id: 9606:LMOD1
uniprot id: P29536
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the tropomodulin family.
messages: Detected in lung vascular smooth muscle (at protein level) (PubMed:27144530). Detected in thyroid and extraocular smooth muscle, but not skeletal muscle (PubMed:2026759). Detected in heart, aorta, skeletal muscle, colon, urinary bladder, uterus, stomach, and small intestine (PubMed:11318603).
messages: Required for proper contractility of visceral smooth muscle cells (PubMed:28292896). Mediates nucleation of actin filaments.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cytoskeleton
messages: sarcomere

9606:SLC13A4
gene id: 9606:SLC13A4
uniprot id: A0A804HKQ4
uniprot id: Q59HF0
uniprot id: Q9UKG4
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.
messages: Highly expressed in placenta and testis with intermediate levels in brain and lower levels in heart, thymus and liver.
messages: Membrane
messages: Sodium:sulfate symporter that mediates sulfate reabsorption in the high endothelial venules (HEV).
messages: Transport is inhibited by thiosulfate, phosphate, molybdate, selenate and tungstate. Not inhibited by oxalate, citrate, succinate, phenol red or 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS).

9606:IFT27
gene id: 9606:IFT27
uniprot id: Q9BW83
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the small GTPase superfamily. Rab family.
messages: Component of the IFT complex B, at least composed of IFT20, IFT25/HSPB11, IFT27, IFT52, IFT57, IFT74, IFT81, IFT88 and TRAF3IP1 (PubMed:25443296). Interacts with IFT25/HSPB11 (By similarity). Interacts with TTC30B (By similarity). Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP (By similarity). Interacts with ARL6; recognizes and binds with the GTP-free form of ARL6 (PubMed:25443296).
messages: Cytoplasm
messages: Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium
messages: flagellum

9606:HRH4
gene id: 9606:HRH4
uniprot id: Q9H3N8
names: Function
names: Induction
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Does not bind diphenhydramine, loratadine, ranitidine, cimetidine and chlorpheniramine. Shows modest affinity for dimaprit, impromidine, clobenpropit, thioperamide, burimamide clozapine, immepip and imetit. The order of inhibitory activity was imetit > clobenpropit > burimamide > thioperamide. Clobenpropit behaves as a partial agonist, dimaprit and impromidine show some agonist activity while clozapine behaves as a full agonist. Thioperamide shows inverse agonism (enhances cAMP activity). The order of inhibitory activity of histamine derivatives was Histamine > N-alpha-methylhistamine > R(-)-alpha-methylhistamine > S(+)-alpha-methylhistamine. Both N-alpha-methylhistamine > R(-)-alpha-methylhistamine behave as full agonists.
messages: Expressed primarily in the bone marrow and eosinophils. Shows preferential distribution in cells of immunological relevance such as T-cells, dendritic cells, monocytes, mast cells, neutrophils. Also expressed in a wide variety of peripheral tissues, including the heart, kidney, liver, lung, pancreas, skeletal muscle, prostate, small intestine, spleen, testis, colon, fetal liver and lymph node.
messages: Expression is either up-regulated or down-regulated upon activation of the lymphoid tissues and this regulation may depend on the presence of IL10/interleukin-10 or IL13/interleukin-13.
messages: The H4 subclass of histamine receptors could mediate the histamine signals in peripheral tissues. Displays a significant level of constitutive activity (spontaneous activity in the absence of agonist).

9606:MPP1
gene id: 9606:MPP1
uniprot id: B4E325
uniprot id: Q00013
names: Caution
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the MAGUK family.
messages: Cell membrane
messages: Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity).
messages: Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity.
messages: Heterodimer with PALS1. Interacts with DLG5 and NF2. Interacts (via guanylate kinase-like domain) with WHRN (via third PDZ domain).
messages: Palmitoylated.
messages: Thought to be palmitoylated by ZDHHC17 (PubMed:22496366). This work was later retracted due to image manipulation (PubMed:29475958).
messages: Ubiquitous.
messages: stereocilium

9606:EXT2
gene id: 9606:EXT2
uniprot id: D3DR24
uniprot id: Q93063
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 47 family.
messages: Endoplasmic reticulum membrane
messages: Forms a homo/heterooligomeric complex with EXT1. Interacts with GALNT5. Interacts with NDST1.
messages: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
messages: Golgi apparatus membrane
messages: Membrane
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The gene represented in this entry is involved in disease pathogenesis.
messages: Ubiquitous.
messages: cis-Golgi network membrane

9606:OR6C1
gene id: 9606:OR6C1
uniprot id: Q96RD1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Odorant receptor.

9606:MRPL22
gene id: 9606:MRPL22
uniprot id: Q9NWU5
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the universal ribosomal protein uL22 family.
messages: Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
messages: Mitochondrion

9606:RPL13A
gene id: 9606:RPL13A
uniprot id: A0A384ME37
uniprot id: P40429
uniprot id: Q8J015
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal functions (PubMed:14567916, PubMed:17218275, PubMed:23636399, PubMed:32669547). Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes (PubMed:23071094). Upon interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation (PubMed:23071094). In the GAIT complex interacts with m7G cap-bound eIF4G at or near the eIF3-binding site and blocks the recruitment of the 43S ribosomal complex (PubMed:23071094). Involved in methylation of rRNA (PubMed:17921318).
messages: Belongs to the universal ribosomal protein uL13 family.
messages: Citrullinated by PADI4.
messages: Component of the 60S ribosome (PubMed:14567916, PubMed:12962325, PubMed:23636399, PubMed:32669547). Component of the GAIT complex (PubMed:15479637). Interacts with EIF4G1 (PubMed:17218275).
messages: Cytoplasm
messages: Phosphorylation at Ser-77 upon interferon-gamma treatment in monocytes involves a DAPK1-DAPK3 kinase cascade and is causing release from the ribosome, association with the GAIT complex and subsequent involvement in transcript-selective translation inhibition.

9606:ASRGL1
gene id: 9606:ASRGL1
uniprot id: A0A024R573
uniprot id: Q7L266
names: Activity Regulation
names: Function
names: Induction
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Ntn-hydrolase family.
messages: By 5-alpha-di-hydrotestosterone and progesterone.
messages: Cleaved into an alpha and beta chain by autocatalysis; this activates the enzyme. The N-terminal residue of the beta subunit is responsible for the nucleophile hydrolase activity.
messages: Contaminating sequence.
messages: Cytoplasm
messages: Expressed in brain, kidney, testis and tissues of the gastrointestinal tract. Present in sperm (at protein level). Over-expressed in uterine, mammary, prostatic and ovarian carcinoma.
messages: Glycine accelerates autocleavage into an alpha and beta chain.
messages: Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine.
messages: Heterodimer of an alpha and beta chain produced by autocleavage. This heterodimer may then dimerize in turn, giving rise to a heterotetramer.

9606:KLHL14
gene id: 9606:KLHL14
uniprot id: Q9P2G3
names: Subcellular Location Annotation
names: Subunit
messages: Endoplasmic reticulum membrane
messages: Interacts with TOR1A, preferentially with the ATP-free form.
messages: cytosol

9606:APOB
gene id: 9606:APOB
uniprot id: P04114
uniprot id: Q7Z7Q0
names: Caution
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Polymorphism
names: RNA Editing
names: Subcellular Location Annotation
names: Subunit
messages: Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.
messages: Cytoplasm
messages: Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.
messages: Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:615558].
messages: Interacts with PCSK9 (PubMed:22580899). Interacts with MTTP (PubMed:26224785, PubMed:27206948). Interacts with AUP1 (PubMed:28183703).
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Lipid droplet
messages: Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844).
messages: The stop codon (UAA) at position 2180 is created by RNA editing. Apo B-48, derived from the fully edited RNA, is produced only in the intestine and is found in chylomicrons. Apo B-48 is a shortened form of apo B-100 which lacks the LDL-receptor region. The unedited version (apo B-100) is produced by the liver and is found in the VLDL and LDL.
messages: Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).

9606:AP4S1
gene id: 9606:AP4S1
uniprot id: Q9Y587
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1).
messages: Belongs to the adaptor complexes small subunit family.
messages: Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Widely expressed.
messages: trans-Golgi network membrane

9606:KDELR2
gene id: 9606:KDELR2
uniprot id: A0A024QZT7
uniprot id: P33947
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ERD2 family.
messages: Binds the C-terminal sequence motif K-D-E-L in a hydrophilic cavity between the transmembrane domains. This triggers a conformation change that exposes a Lys-rich patch on the cytosolic surface of the protein (By similarity). This patch mediates recycling from the Golgi to the endoplasmic reticulum, probably via COPI vesicles (By similarity).
messages: COPI-coated vesicle membrane
messages: Endoplasmic reticulum membrane
messages: Golgi apparatus membrane
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: Membrane receptor that binds the K-D-E-L sequence motif in the C-terminal part of endoplasmic reticulum resident proteins and maintains their localization in that compartment by participating to their vesicle-mediated recycling back from the Golgi (PubMed:1325562, PubMed:18086916, PubMed:33053334). Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:DMRT3
gene id: 9606:DMRT3
uniprot id: Q9NQL9
names: Developmental Stage
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DMRT family.
messages: DMA domain interacts with ubiquitin.
messages: DMRT3 is a marker for a subset of spinal cord neurons (dI6).
messages: Expressed in 4 to 5 weeks embryos.
messages: Expressed in testis.
messages: May homodimerize.
messages: Nucleus
messages: Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity).

9606:CRISP3
gene id: 9606:CRISP3
uniprot id: P54108
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the CRISP family.
messages: Interacts with A1BG.
messages: Salivary gland, pancreas and prostate > epididymis, ovary, thymus and colon.
messages: Secreted

9606:FAAH2
gene id: 9606:FAAH2
uniprot id: B2C6G4
uniprot id: Q6GMR7
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the amidase family.
messages: Catalyzes the hydrolysis of endogenous amidated lipids like the sleep-inducing lipid oleamide ((9Z)-octadecenamide), the endocannabinoid anandamide (N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-ethanolamine), as well as other fatty amides, to their corresponding fatty acids, thereby regulating the signaling functions of these molecules (PubMed:17015445, PubMed:19926788). Hydrolyzes monounsaturated substrate anandamide preferentially as compared to polyunsaturated substrates.
messages: Expressed in kidney, liver, lung, prostate, heart and ovary.
messages: Homodimer.
messages: Inhibited by O-aryl carbamates and alpha-keto heterocytes.
messages: Lipid droplet
messages: Membrane

9606:IL4
gene id: 9606:IL4
uniprot id: D4HNR6
uniprot id: P05112
uniprot id: Q5FC01
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the IL-4/IL-13 family.
messages: Cytokine secreted primarily by mast cells, T-cells, eosinophils, and basophils that plays a role in regulating antibody production, hematopoiesis and inflammation, and the development of effector T-cell responses (PubMed:3016727, PubMed:1993171). Induces the expression of class II MHC molecules on resting B-cells. Enhances both secretion and cell surface expression of IgE and IgG1 (PubMed:1993171). Regulates also the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes (PubMed:2521231). Positively regulates IL31RA expression in macrophages. Stimulates autophagy in dendritic cells by interfering with mTORC1 signaling and through the induction of RUFY4. In addition, plays a critical role in higher functions of the normal brain, such as memory and learning (By similarity). Upon binding to IL4, IL4R receptor dimerizes either with the common IL2R gamma chain/IL2RG to produce the type 1 signaling complex, located mainly on hematopoietic cells, or with the IL13RA1 to produce the type 2 complex, which is expressed also on nonhematopoietic cells (PubMed:10219247, PubMed:11526337, PubMed:18243101). Engagement of both types of receptors initiates JAK3 and to a lower extend JAK1 phosphorylation leading to activation of the signal transducer and activator of transcription 6/STAT6 (PubMed:7721895).
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Interacts with IL4R (PubMed:10219247, PubMed:11526337). Interacts with IL13RA1 (PubMed:18243101).
messages: Participates in at least several B-cell activation processes as well as of other cell types. It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes.
messages: Secreted

9606:TM4SF4
gene id: 9606:TM4SF4
uniprot id: P48230
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the L6 tetraspanin family.
messages: Jejunum and liver.
messages: Membrane
messages: N-glycosylated. Glycosylation is required for the growth inhibitory effect.
messages: Regulates the adhesive and proliferative status of intestinal epithelial cells. Can mediate density-dependent cell proliferation.

9606:GMEB2
gene id: 9606:GMEB2
uniprot id: Q9UKD1
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Expressed in peripheral blood lymphocytes and fetal liver. Expressed preferentially in reproductive and/or developmentally important cells, such as testis, placenta, bone marrow and fetal tissues.
messages: Homodimer, and heterodimer of GMEB1 and GMEB2. GMEB1 and GMEB2 form the parvovirus initiator complex (PIF). Interacts with the glucocorticoid receptor (NR3C1). May interact with CREB-binding protein (CBP).
messages: Nucleus
messages: Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Binds also to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses.

9606:ZHX3
gene id: 9606:ZHX3
uniprot id: Q9H4I2
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Acts as a transcriptional repressor. Involved in the early stages of mesenchymal stem cell (MSC) osteogenic differentiation. Is a regulator of podocyte gene expression during primary glomerula disease. Binds to promoter DNA.
messages: Belongs to the ZHX family.
messages: Homodimer (via homeobox domain 1) (PubMed:12659632, PubMed:14659886). Heterodimer with ZHX1 (via homeobox domain 1) (PubMed:12659632). Heterodimer with ZHX2 (via homeobox domain 1) (PubMed:14659886). Heterodimerization with ZHX1 is a prerequisite for repressor activity (PubMed:12659632). Interacts with NFYA (PubMed:12659632).
messages: Nucleus
messages: Up-regulated during osteogenic differentiation of mesenchymal stem cells.
messages: Widely expressed. High expression in kidney. Expressed during osteogenic differentiation.

9606:RERE
gene id: 9606:RERE
uniprot id: Q9P2R6
names: Disease Annotation
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: A chromosomal aberration involving RERE is found in the neuroblastoma cell line NGP. Translocation t(1;15)(p36.2;q24).
messages: Interacts with HDAC1 (By similarity). Interacts with ATN1. Interaction with ATN1 is improved when the poly-Gln region of ATN1 is extended. Interacts with FAT1.
messages: Nucleus
messages: Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: The interaction with ATN1 is mediated by the coiled coil domain.
messages: Widely expressed. Expressed in tumor cell lines.

9606:ACSL1
gene id: 9606:ACSL1
uniprot id: A8K9T3
uniprot id: B4E0R0
uniprot id: B7Z3Z9
uniprot id: E7EPM6
uniprot id: P33121
names: Activity Regulation
names: Developmental Stage
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the ATP-dependent AMP-binding enzyme family.
messages: Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:24269233, PubMed:22633490, PubMed:21242590). Preferentially uses palmitoleate, oleate and linoleate (PubMed:24269233). Preferentially activates arachidonate than epoxyeicosatrienoic acids (EETs) or hydroxyeicosatrienoic acids (HETEs) (By similarity).
messages: Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation.
messages: Endoplasmic reticulum membrane
messages: Expressed during the early stages of erythroid development while expression is very low in reticulocytes and young erythrocytes.
messages: Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas.
messages: Inhibited at high temperature and by arachidonate.
messages: May be due to a competing acceptor splice site.
messages: Microsome membrane
messages: Mitochondrion outer membrane
messages: Peroxisome membrane

9606:KCTD17
gene id: 9606:KCTD17
uniprot id: Q8N5Z5
names: Disease Annotation
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: Highly expressed in brain. Highest expression is observed in the putamen and the thalamus.
messages: Homopentamer; forms an closed pentamer (PubMed:28963344). Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (PubMed:28963344). Interacts with TCHP (PubMed:25270598). Interacts with CUL3, as part of the BCR(KCTD17) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD17 and RBX1 (PubMed:25270598).
messages: Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The sequence differs in the N-terminus for unknown reasons.

9606:IL1B
gene id: 9606:IL1B
uniprot id: P01584
names: Activity Regulation
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Cleavage by S.pyogenes cysteine protease SpeB promotes its activation independently of CASP1 (PubMed:28331908, PubMed:32719155). SpeB-mediated maturation of IL1B plays a dual role depending on infection site: while IL1B inflammatory response prevents bacterial growth during invasive skin infections, it promotes streptococcal infection of the nasopharynx by disrupting colonization resistance mediated by the microbiota (PubMed:28331908, PubMed:32719155).
messages: (Microbial infection) Cleavage by S.pyogenes cysteine protease SpeB promotes its activation independently of CASP1.
messages: Activation of the IL1B precursor involves a CASP1-catalyzed proteolytic cleavage. Processing and secretion are temporarily associated.
messages: Belongs to the IL-1 family.
messages: By LPS (PubMed:15192144). Transcription and translation induced by M.tuberculosis and a number of different M.tuberculosis components in macrophages; EsxA is the most potent activator tested (at protein level) (PubMed:20148899). In pancreatic islets, release is increased by high glucose treatment. In pancreatic islets and macrophages, release is also increased by endocannabinoid anandamide/AEA (PubMed:23955712).
messages: Expressed in activated monocytes/macrophages (at protein level).
messages: Lysosome
messages: Monomer. In its precursor form, weakly interacts with full-length MEFV; the mature cytokine does not interact at all (PubMed:17431422). Interacts with integrins ITGAV:ITGBV and ITGA5:ITGB1; integrin-binding is required for IL1B signaling (PubMed:29030430). Interacts with cargo receptor TMED10; the interaction is direct and is required for the secretion of IL1B mature form (PubMed:32272059). Interacts with HSP90AB1; the interaction facilitates cargo translocation into the ERGIC (PubMed:32272059). Interacts with HSP90B1; the interaction facilitates cargo translocation into the ERGIC (PubMed:32272059).
messages: Potent pro-inflammatory cytokine (PubMed:3920526, PubMed:10653850, PubMed:12794819, PubMed:28331908). Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B-cell activation and antibody production, and fibroblast proliferation and collagen production (PubMed:3920526). Promotes Th17 differentiation of T-cells. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells (PubMed:10653850). Plays a role in angiogenesis by inducing VEGF production synergistically with TNF and IL6 (PubMed:12794819). Involved in transduction of inflammation downstream of pyroptosis: its mature form is specifically released in the extracellular milieu by passing through the gasdermin-D (GSDMD) pore (PubMed:33377178, PubMed:33883744). Acts as a sensor of S.pyogenes infection in skin: cleaved and activated by pyogenes SpeB protease, leading to an inflammatory response that prevents bacterial growth during invasive skin infection (PubMed:28331908).
messages: Secreted
messages: The IL1B production occurs in 2 steps, each being controlled by different stimuli. First, inflammatory signals, such as LPS, stimulate the synthesis and promote the accumulation of cytosolic stores of pro-IL1B (priming). Then additional signals are required for inflammasome assembly, leading to CASP1 activation, pro-IL1B processing and eventually secretion of the active cytokine. IL1B processing and secretion are temporarily associated.
messages: cytosol
messages: extracellular exosome

9606:PTPRU
gene id: 9606:PTPRU
uniprot id: Q92729
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily.
messages: Cell junction
messages: Cell membrane
messages: Expressed in fetal brain, lung and kidney.
messages: Forms homooligomeric complexes which mediate cell homotypic adhesion (Probable). Interacts (via the cytoplasmic juxtamembrane domain) with CTNNB1; may mediate interaction with the cadherin/catenin adhesion complex. Interacts with KIT. May interact with AP3B1.
messages: High levels in brain, pancreas, and skeletal muscle; less in colon, kidney, liver, stomach, and uterus; not expressed in placenta and spleen. Also detected in heart, prostate, lung, thymus, testis and ovary. Ubiquitously expressed in brain. Expressed by hematopoietic stem cells.
messages: N-glycosylated.
messages: Phosphorylated on tyrosine residues upon activation of KIT with stem cell factor (SCF). The 73 kDa proteolytic product is not phosphorylated.
messages: Several sequencing problems.
messages: The extracellular domain is proteolytically processed through cleavage within the fibronectin type-III 4 domain (By similarity). In addition to the 190 kDa full-length protein, proteolytic products of 100 kDa, 80 kDa and 73 kDa are observed.
messages: Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a role in megakaryocytopoiesis.
messages: Up-regulated upon cell contact (at protein level). Down-regulated by phorbol ester (at protein level) and calcium ionophore but up-regulated by phorbol ester in megakaryocytic cells (PubMed:10397721).

9606:UNK
gene id: 9606:UNK
uniprot id: A0A024R8N4
uniprot id: Q9C0B0
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the unkempt family.
messages: Cytoplasm
messages: Sequence-specific RNA-binding protein which plays an important role in the establishment and maintenance of the early morphology of cortical neurons during embryonic development. Acts as a translation repressor and controls a translationally regulated cell morphology program to ensure proper structuring of the nervous system. Translational control depends on recognition of its binding element within target mRNAs which consists of a mandatory UAG trimer upstream of a U/A-rich motif. Associated with polysomes (PubMed:25737280).

9606:GADD45G
gene id: 9606:GADD45G
uniprot id: O95257
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the GADD45 family.
messages: Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK.
messages: Two central helices mediate homodimerization through parallel packing.
messages: Undergoes concentration-dependent homodimerization, which is required for growth inhibititory activity and enhances interaction with PCNA. Interacts with GADD45GIP1. Interacts with PCNA.

9606:KMT2D
gene id: 9606:KMT2D
uniprot id: O14686
uniprot id: Q59FG6
uniprot id: Q6PIA1
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Another protein KMT2B/MLL4, located on chromosome 19, was first named MLL2 (see AC Q9UMN6). Thus, KMT2B/MLL4 is often referred to as MLL2 and vice versa in the literature.
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
messages: Component of the MLL2 complex (also named ASCOM complex), at least composed of catalytic subunit KMT2D/MLL2, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin (PubMed:23508102, PubMed:17500065, PubMed:12482968, PubMed:16603732, PubMed:17021013, PubMed:17761849, PubMed:17851529). Forms a core complex with the evolutionary conserved subcomplex WRAD composed of WDR5, RBBP5, ASH2L/ASH2 and DPY30 subunits; WRAD differentially stimulates the methyltransferase activity (PubMed:25561738). Interacts with ESR1; interaction is direct (PubMed:16603732). Interacts (via WIN motif) with WDR5 (PubMed:22665483, PubMed:22266653).
messages: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
messages: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:17500065). Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription (PubMed:16603732).
messages: LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: This gene mapped to a chromosomal region involved in duplications and translocations associated with cancer.

9606:RTF2
gene id: 9606:RTF2
uniprot id: A0A0A0MQR2
uniprot id: A2A2L6
uniprot id: B4DXL5
uniprot id: Q9BY42
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the rtf2 family.
messages: Chromosome
messages: Interacts with DDI2; probably also interacts with DDI1.
messages: Replication termination factor which is a component of the elongating replisome (Probable). Required for ATR pathway signaling upon DNA damage and has a positive activity during DNA replication. Might function to facilitate fork pausing at replication fork barriers like the rDNA. May be globally required to stimulate ATR signaling after the fork stalls or encounters a lesion (Probable). Interacts with nascent DNA (PubMed:29290612).
messages: Undergoes proteasomal degradation, via DDI1 and DDI2. Removal from stalled replisomes and degradation are required for genome stability.

9606:OVOL2
gene id: 9606:OVOL2
uniprot id: Q9BRP0
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Expressed in testis, ovary, heart and skeletal muscle (PubMed:12213202). Expressed in the cornea, but absent from the corneal endothelium (PubMed:26749309).
messages: Nucleus
messages: The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations in the OVOL2 promoter alter promoter activity, dysregulate OVOL2 expression, and probably induce OVOL2 ectopic expression in the corneal endothelium.
messages: Zinc-finger transcription repressor factor (PubMed:19700410). Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410). Important for the correct development of primordial germ cells in embryos (By similarity).

9606:OR6A2
gene id: 9606:OR6A2
uniprot id: A0A126GW91
uniprot id: O95222
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Membrane
messages: Odorant receptor.

9606:KIFAP3
gene id: 9606:KIFAP3
uniprot id: Q92845
names: Function
names: PTM
names: Subunit
messages: Heterotrimer of KIFAP3, KIF3A and KIF3B. Interacts with RAP1GDS1/SMG GDS. Interacts with SMC3 subunit of the cohesin complex.
messages: Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity).
messages: Phosphorylated on tyrosine residues by SRC in vitro; this reduces the binding affinity of the protein for RAP1GDS1.

9606:TMEM219
gene id: 9606:TMEM219
uniprot id: Q86XT9
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding.
messages: Cell membrane
messages: Interacts with IGFBP3. Interacts with CASP8.
messages: Widely expressed in normal tissues but suppressed in prostate and breast tumor.

9606:OVOL1
gene id: 9606:OVOL1
uniprot id: O14753
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Expressed in fetal kidney, and also in adult pancreas and placenta. Not expressed in intestine, peripheral blood lymphocytes and ovary.
messages: Nucleus
messages: Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system (By similarity).

9606:LYZ
gene id: 9606:LYZ
uniprot id: B2R4C5
uniprot id: P61626
names: Disease Annotation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the glycosyl hydrolase 22 family.
messages: Lysozyme C is capable of both hydrolysis and transglycosylation; it shows also a slight esterase activity. It acts rapidly on both peptide-substituted and unsubstituted peptidoglycan, and slowly on chitin oligosaccharides.
messages: Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents.
messages: Monomer.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:GRIN1
gene id: 9606:GRIN1
uniprot id: Q05586
uniprot id: Q59GW0
uniprot id: Q5VSF9
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.
messages: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily.
messages: Cell membrane
messages: Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761).
messages: Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Can also form heterotetrameric channels that contain at least one zeta subunit (GRIN1), an epsilon subunit, plus GRIN3A or GRIN3B (in vitro). In vivo, the subunit composition may vary in function of the expression levels of the different subunits. Found in a complex with GRIN2A or GRIN2B, GRIN3A and PPP2CB (By similarity). Found in a complex with GRIN2A or GRIN2B and GRIN3B (By similarity). Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes (By similarity). Interacts with DLG4 and MPDZ. Interacts with LRFN1 and LRFN2 (By similarity). Interacts with MYZAP (PubMed:18849881). Found in a complex with DLG4 and PRR7 (By similarity). Found in a complex with GRIN2B and PRR7 (PubMed:27458189). Interacts with PRR7; the interaction is reduced following NMDA receptor activity (PubMed:27458189).
messages: Membrane
messages: NMDA is probably regulated by C-terminal phosphorylation of an isoform of NR1 by PKC. Dephosphorylated on Ser-897 probably by protein phosphatase 2A (PPP2CB). Its phosphorylated state is influenced by the formation of the NMDAR-PPP2CB complex and the NMDAR channel activity.
messages: Postsynaptic cell membrane
messages: Postsynaptic density
messages: Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:PROK2
gene id: 9606:PROK2
uniprot id: Q9HC23
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Activated by CLOCK and BMAL1 heterodimers and light; inhibited by period genes (PER1, PER2 and PER3) and cryptochrome genes (CRY1 and CRY2).
messages: Belongs to the AVIT (prokineticin) family.
messages: Expressed in the testis and, at low levels, in the small intestine.
messages: May function as an output molecule from the suprachiasmatic nucleus (SCN) that transmits behavioral circadian rhythm. May also function locally within the SCN to synchronize output. Potently contracts gastrointestinal (GI) smooth muscle.
messages: Secreted
messages: The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in PROK2 as well as in other HH-associated genes including PROKR2 (PubMed:23643382).

9606:PIK3AP1
gene id: 9606:PIK3AP1
uniprot id: Q6ZUJ8
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Constitutively phosphorylated. Phosphorylated on tyrosine residues in C-terminal region by ABL1. Phosphorylated on tyrosine residues within the YXXM motifs by BTK and SYK (By similarity). Isoform 1 and isoform 2 are phosphorylated on tyrosine residues, most likely within the YXXM motifs, via CD19 activation (By similarity). Toll-like receptor activation induces appearance of a phosphorylated form associated with membranes (By similarity).
messages: Cytoplasm
messages: Expressed in natural killer (NK) cells.
messages: Homooligomer (By similarity). Interacts (phosphorylated on tyrosine residues within YXXM motifs) with PIK3R1 (via SH2 domain); required for BCR- and TLR-mediated activation of phosphoinositide 3-kinase. Interacts (via polyproline C-terminal region) with ABI1 (via SH3 domain); the interaction promotes phosphorylation of PIK3AP1 by ABL1. May interact with MYD88 and TIRAP (By similarity).
messages: Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll-like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival of mature B-cells via activation of REL.
messages: The DBB domain is required for dimerization.

9606:RPGRIP1
gene id: 9606:RPGRIP1
uniprot id: Q96KN7
names: Disease Annotation
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RPGRIP1 family.
messages: Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR (PubMed:10958648, PubMed:10958647, PubMed:24981858). Interacts with NPHP4 (PubMed:16339905, PubMed:21224891). Interacts with NEK4 (PubMed:21685204). Interacts with SPATA7 (PubMed:25398945). Interacts with CEP290/NPHP6; mediating the association between RPGR and CEP290/NPHP6 (PubMed:20200501).
messages: Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons (PubMed:21224891).
messages: May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.
messages: Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.
messages: The C2 domain does not bind calcium ions, and does not bind phosphoinositides.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: cilium

9606:NEPRO
gene id: 9606:NEPRO
uniprot id: Q6NW34
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the nepro family.
messages: May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development.
messages: Nucleus
messages: The disease may be caused by variants affecting the gene represented in this entry.
messages: nucleolus

9606:PRKAB1
gene id: 9606:PRKAB1
uniprot id: A0A024RBN1
uniprot id: Q9Y478
names: Domain
names: Function
names: PTM
names: Similarity
names: Subunit
messages: AMPK is a heterotrimer of an alpha catalytic subunit (PRKAA1 or PRKAA2), a beta (PRKAB1 or PRKAB2) and a gamma non-catalytic subunits (PRKAG1, PRKAG2 or PRKAG3). Interacts with FNIP1 and FNIP2.
messages: Belongs to the 5'-AMP-activated protein kinase beta subunit family.
messages: Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3).
messages: Phosphorylated when associated with the catalytic subunit (PRKAA1 or PRKAA2). Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK.
messages: The glycogen-binding domain may target AMPK to glycogen so that other factors like glycogen-bound debranching enzyme or protein phosphatases can directly affect AMPK activity.

9606:CHRM4
gene id: 9606:CHRM4
uniprot id: P08173
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM4 sub-subfamily.
messages: Cell membrane
messages: Postsynaptic cell membrane
messages: The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is inhibition of adenylate cyclase.

9606:ZFX
gene id: 9606:ZFX
uniprot id: A0A024RC04
uniprot id: P17010
uniprot id: Q59EB9
uniprot id: Q8WXB7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family. ZFX/ZFY subfamily.
messages: Nucleus
messages: Probable transcriptional activator.

9606:SPAG1
gene id: 9606:SPAG1
uniprot id: Q07617
names: Disease Annotation
names: Function
names: Miscellaneous
names: Sequence Caution
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Antibodies against SPAG1 interfere with fertilization.
messages: Contaminating sequence. Potential poly-A sequence.
messages: Cytoplasm
messages: Dynein axonemal particle
messages: May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity.
messages: Present in most tissues, including lung, with the strongest expression in brain, colon, kidney, and testis. In sperm and testis, detected in particular in pachytene primary spermatocytes. Up-regulated in pancreatic tumor tissues and not in normal pancreatic tissue.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:SPRING1
gene id: 9606:SPRING1
uniprot id: A0A024RBQ8
uniprot id: Q9H741
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SPRING family.
messages: Golgi apparatus membrane
messages: Interacts with SCAP.
messages: Membrane
messages: Positively regulates hepatic SREBP signaling pathway by modulating the proper localization of SCAP (SREBP cleavage-activating protein) to the endoplasmic reticulum, thereby controlling the level of functional SCAP.

9606:ZNF346
gene id: 9606:ZNF346
uniprot id: Q9UL40
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity (PubMed:24521053). May bind to specific miRNA hairpins (PubMed:28431233).
messages: Cytoplasm
messages: Forms a heteromeric complex with XPO5 and ILF3. Found in a nuclear export complex with XPO5, RAN, ILF3, ZNF346 and double-stranded RNA. Interacts with XPO5. Interacts with ILF3 in an RNA-independent manner.
messages: The zinc-finger domains are required for binding to dsRNA, and also for nuclear localization.
messages: nucleolus

9606:HECW1
gene id: 9606:HECW1
uniprot id: Q76N89
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cytoplasm
messages: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS.
messages: Interacts with DVL1 and SSR3. Also interacts with mutant SOD1.
messages: Predominantly expressed in neurons of adult and fetal brain. Weakly expressed in the kidney.

9606:PCDHA5
gene id: 9606:PCDHA5
uniprot id: Q9Y5H7
names: Function
names: Subcellular Location Annotation
messages: Cell membrane
messages: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

9606:ACSM3
gene id: 9606:ACSM3
uniprot id: Q53FZ2
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the ATP-dependent AMP-binding enzyme family.
messages: Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:11772874). Capable of activating medium-chain fatty acids with a preference for isobutyrate among fatty acids with 2-6 carbon atoms (By similarity).
messages: It is uncertain whether Met-1 or Met-9 is the initiator.
messages: Mitochondrion
messages: Mitochondrion matrix

9606:CELA2A
gene id: 9606:CELA2A
uniprot id: P08217
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase S1 family. Elastase subfamily.
messages: Elastase that enhances insulin signaling and might have a physiologic role in cellular glucose metabolism. Circulates in plasma and reduces platelet hyperactivation, triggers both insulin secretion and degradation, and increases insulin sensitivity.
messages: Expressed in pancreas. Not detected in keratinocytes (PubMed:10620133). Detected in exocrine secretions of the pancreas (at protein level). Also expressed in a small fraction of cells in pancreatic islets, adrenal cortex, intestinal glands and colonic lymphoid follicles (at protein level) (PubMed:31358993). Detected in plasma (PubMed:31358993).
messages: Interacts with CPA1. Interacts with SERPINA1 (PubMed:31358993).
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:CYP2C8
gene id: 9606:CYP2C8
uniprot id: B7Z1F5
uniprot id: P10632
names: Caution
names: Function
names: Induction
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
messages: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:7574697, PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:7574697, PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576). Primarily catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) with a preference for the last double bond (PubMed:7574697, PubMed:15766564, PubMed:19965576). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes all trans-retinoic acid toward its 4-hydroxylated form (PubMed:11093772). Displays 16-alpha hydroxylase activity toward estrogen steroid hormones, 17beta-estradiol (E2) and estrone (E1) (PubMed:14559847). Plays a role in the oxidative metabolism of xenobiotics. It is the principal enzyme responsible for the metabolism of the anti-cancer drug paclitaxel (taxol) (PubMed:26427316).
messages: Alternative splicing has been shown to occur but the shorter forms are believed to be non-functional.
messages: Belongs to the cytochrome P450 family.
messages: By phenobarbital.
messages: Endoplasmic reticulum membrane
messages: Microsome membrane
messages: Several alleles are found in the human population, contributing to interindividual variations in the therapeutic efficacy and toxicity of a myriad of drugs such as paclitaxel or amodiaquine. The allele shown here is CYP2C8*1 (PubMed:26427316). CYP2C8 genetic variations are associated with altered drug metabolism and adverse drug effects including acute rhabdomyolysis after cerivastatin use [MIM:618018].

9606:TRPM8
gene id: 9606:TRPM8
uniprot id: Q7Z2W7
uniprot id: W8DTH1
names: Caution
names: Domain
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM8 sub-subfamily.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Expressed in prostate. Also expressed in prostate tumors and in non-prostatic primary tumors such as colon, lung, breast and skin tumors.
messages: Homotetramer (By similarity). Isoform 2 and isoform 3 interact with the C-terminus of isoform 1 in a thermosensitive manner with decreased interaction at 21 degrees Celsius compared to 37 degrees Celsius. Interacts (via N-terminus and C-terminus domains) with TCAF1; the interaction stimulates TRPM8 channel activity (PubMed:25559186). Interacts (via N-terminus and C-terminus domains) with TCAF2 isoform 2; the interaction inhibits TRPM8 channel activity (PubMed:25559186).
messages: Its expression in most prostate tumors as well as the presence of an immunogenic epitope suggest that it may be suitable for the design of peptide vaccination strategies for prostate cancers.
messages: Membrane
messages: Membrane raft
messages: Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of its voltage-dependent activation curves. The chemical agonist menthol functions as a gating modifier, shifting activation curves towards physiological membrane potentials. Temperature sensitivity arises from a tenfold difference in the activation energies associated with voltage-dependent opening and closing. In prostate cancer cells, shows strong inward rectification and high calcium selectivity in contrast to its behavior in normal cells which is characterized by outward rectification and poor cationic selectivity. Plays a role in prostate cancer cell migration (PubMed:25559186). Isoform 2 and isoform 3 negatively regulate menthol- and cold-induced channel activity by stabilizing the closed state of the channel.
messages: The 192-residue sequence submitted as AAS45276 has been confirmed by the authors of PubMed:22128173 to be incorrect as translation starts from a downstream methionine.
messages: The coiled coil region is required for multimerization.
messages: The sensation of coolness triggered by eucalyptol or menthol may be explained by the fact that menthol and cool temperatures sensations are detected by this protein.

9606:FTO
gene id: 9606:FTO
uniprot id: A0A1B0GTC5
uniprot id: B3KU60
uniprot id: Q9C0B1
names: Activity Regulation
names: Caution
names: Cofactor
names: Disease Annotation
names: Domain
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: According to a report, mainly mediates demethylation of N(6),2'-O-dimethyladenosine cap (m6A(m)), by demethylating the N(6)-methyladenosine adjacent to mRNA cap, whereas it has low activity toward internal N(6)-methyladenosine (m6A) in mRNAs (PubMed:28002401). According to a second report, has strong activity toward internal N(6)-methyladenosine (m6A) in mRNAs and is able to demethylate different RNA species, such as tRNA, mRNA or small nuclear RNA (snRNA), depending on the context and subcellular location (PubMed:30197295).
messages: Activated by ascorbate (By similarity). Inhibited by N-oxalylglycine, fumarate and succinate (By similarity). RNA N(6)-methyladenosine demethylase activity is inhibited by fluorescein derivatives (PubMed:26457839). RNA N(6)-methyladenosine demethylase activity is selectively inhibited by meclofenamic acid; inhibition is specific to FTO and meclofenamic acid does not inhibit ALKBH5 (PubMed:25452335). Specifically inhibited by R-2-hydroxyglutarate (R-2HG), an oncometabolite that also exerts a broad antileukemic activity (PubMed:29249359). Inhibition by R-2HG leads to increased level of N(6)-methyladenosine-containing transcripts, leading to down-regulate expression of MYC and CEBPA transcripts (PubMed:29249359).
messages: Belongs to the fto family.
messages: Binds 1 Fe(2+) ion per subunit.
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry. It is unclear whether variations associated with obesity directly affect FTO function or alter the expression of adjacent genes such as IRX3, rather than FTO itself (PubMed:24646999, PubMed:26287746). A pathogenic intronic FTO variation (rs1421085) disrupts an evolutionarily conserved motif for ARID5B binding (PubMed:26287746). Loss of ARID5B binding results in overexpression of two genes distal to FTO, IRX3 and IRX5. IRX3 and IRX5 overexpression shifts pre-adipocytes differentiation from brown to white fat cells, resulting in increased lipid storage and loss of mitochondrial thermogenesis (PubMed:26287746).
messages: Genetic variations at the FTO locus define the body mass index quantitative trait locus 14 (BMIQ14) [MIM:612460]. Variance in body mass index is a susceptibility factor for obesity.
messages: Monomer (By similarity). May also exist as homodimer (By similarity).
messages: Nucleus
messages: Nucleus speckle
messages: RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis (PubMed:22002720, PubMed:26458103, PubMed:28002401, PubMed:30197295, PubMed:26457839, PubMed:25452335). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103, PubMed:30197295, PubMed:26457839, PubMed:25452335). M6A demethylation by FTO affects mRNA expression and stability (PubMed:30197295). Also able to demethylate m6A in U6 small nuclear RNA (snRNA) (PubMed:30197295). Mediates demethylation of N(6),2'-O-dimethyladenosine cap (m6A(m)), by demethylating the N(6)-methyladenosine at the second transcribed position of mRNAs and U6 snRNA (PubMed:28002401, PubMed:30197295). Demethylation of m6A(m) in the 5'-cap by FTO affects mRNA stability by promoting susceptibility to decapping (PubMed:28002401). Also acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs (PubMed:30197295). Has no activity towards 1-methylguanine (PubMed:20376003). Has no detectable activity towards double-stranded DNA (PubMed:20376003). Also able to repair alkylated DNA and RNA by oxidative demethylation: demethylates single-stranded RNA containing 3-methyluracil, single-stranded DNA containing 3-methylthymine and has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine (PubMed:18775698, PubMed:20376003). Ability to repair alkylated DNA and RNA is however unsure in vivo (PubMed:18775698, PubMed:20376003). Involved in the regulation of fat mass, adipogenesis and body weight, thereby contributing to the regulation of body size and body fat accumulation (PubMed:18775698, PubMed:20376003). Involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746). Regulat…
messages: The 3D-structure of the Fe2OG dioxygenase domain is similar to that of the Fe2OG dioxygenase domain found in the bacterial DNA repair dioxygenase alkB and its mammalian orthologs, but sequence similarity is very low. As a consequence, the domain is not detected by protein signature databases.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitously expressed, with relatively high expression in adrenal glands and brain; especially in hypothalamus and pituitary (PubMed:17434869, PubMed:17496892). Highly expressed in highly expressed in acute myeloid leukemias (AML) with t(11;11)(q23;23) with KMT2A/MLL1 rearrangements, t(15;17)(q21;q21)/PML-RARA, FLT3-ITD, and/or NPM1 mutations (PubMed:28017614).

9606:ATP2C2
gene id: 9606:ATP2C2
uniprot id: B3KR57
uniprot id: O75185
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:15831496, PubMed:16332677, PubMed:30923126, PubMed:15677451). Within a catalytic cycle, acquires Ca(2+) or Mn(2+) ions on the cytoplasmic side of the membrane and delivers them to the lumenal side. The transfer of ions across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:15831496, PubMed:16332677). Induces Ca(2+) influx independently of its ATP-driven pump function. At the basolateral membrane of mammary epithelial cells, interacts with Ca(2+) channel ORAI1 and mediates Ca(2+) entry independently of the Ca(2+) content of endoplasmic reticulum or Golgi stores. May facilitate transepithelial transport of large quantities of Ca(2+) for milk secretion via activation of Ca(2+) influx channels at the plasma membrane and active Ca(2+) transport at the Golgi apparatus (PubMed:23840669, PubMed:20887894).
messages: Basolateral cell membrane
messages: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
messages: Catalyzes the hydrolysis of ATP coupled with the transport of calcium.
messages: Cell membrane
messages: Highly expressed in the gastrointestinal and respiratory tracts, prostate, thyroid, salivary, and mammary glands (PubMed:15831496). Expressed in colon epithelial cells (at protein level). Expressed in brain and testis (at protein level) (PubMed:15677451).
messages: Interacts (via N-terminus) with ORAI1 (via N- and C-termini); this interaction regulates Ca(2+) influx at the plasma membrane.
messages: Lacks conserved residue(s) required for the propagation of feature annotation.
messages: Membrane
messages: trans-Golgi network membrane

9606:CC2D1B
gene id: 9606:CC2D1B
uniprot id: Q5T0F9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the CC2D1 family.
messages: Nucleus
messages: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells.
messages: Widely distributed in brain and peripheral tissues.

9606:NUTM2B
gene id: 9606:NUTM2B
uniprot id: A6NNL0
names: Similarity
messages: Belongs to the NUT family.

9606:NSUN5
gene id: 9606:NSUN5
uniprot id: Q96P11
names: Disease Annotation
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
messages: Down-regulated in some glioma; epigenetic inactivation is a hallmark of glioma patients with long-term survival.
messages: NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:11978965, PubMed:12073013). WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:11978965, PubMed:12073013). Its deletion in WBS results in decreased methylation of the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA (PubMed:31722427).
messages: S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA (PubMed:23913415, PubMed:31428936, PubMed:31722427). m5C3782 promotes protein translation without affecting ribosome biogenesis and fidelity (PubMed:31428936, PubMed:31722427). Required for corpus callosum and cerebral cortex development (By similarity).
messages: Ubiquitous (PubMed:11978965, PubMed:12073013). Detected in placenta, heart and skeletal muscle (PubMed:11978965, PubMed:12073013).
messages: nucleolus

9606:LEAP2
gene id: 9606:LEAP2
uniprot id: Q969E1
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the LEAP2 family.
messages: Has an antimicrobial activity.
messages: Secreted

9606:HYAL2
gene id: 9606:HYAL2
uniprot id: Q12891
names: Caution
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the glycosyl hydrolase 56 family.
messages: Cell membrane
messages: Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R.
messages: Interacts with MST1R.
messages: Was originally thought to be lysosomal.
messages: Widely expressed. No expression detected in adult brain.

9606:NFKBIA
gene id: 9606:NFKBIA
uniprot id: P25963
names: Disease Annotation
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with HBV protein X.
messages: Belongs to the NF-kappa-B inhibitor family.
messages: Cytoplasm
messages: Deubiquitinated by porcine reproductive and respiratory syndrome virus Nsp2 protein, which thereby interferes with NFKBIA degradation and impairs subsequent NF-kappa-B activation.
messages: Induced in adherent monocytes.
messages: Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.
messages: Interacts with RELA; the interaction requires the nuclear import signal. Interacts with NKIRAS1 and NKIRAS2. Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, ELP1 and MAP3K14. Interacts with isoform 1 and isoform 2 of RWDD3; the interaction enhances sumoylation. Interacts (when phosphorylated at the 2 serine residues in the destruction motif D-S-G-X(2,3,4)-S) with BTRC. Associates with the SCF(BTRC) complex, composed of SKP1, CUL1 and BTRC; the association is mediated via interaction with BTRC. Part of a SCF(BTRC)-like complex lacking CUL1, which is associated with RELA; RELA interacts directly with NFKBIA. Interacts with PRMT2. Interacts with PRKACA in platelets; this interaction is disrupted by thrombin and collagen. Interacts with HIF1AN. Interacts with MEFV. Interacts with DDRGK1; positively regulates NFKBIA phosphorylation and degradation.
messages: Monoubiquitinated at Lys-21 and/or Lys-22 by UBE2D3. Ubiquitin chain elongation is then performed by CDC34 in cooperation with the SCF(FBXW11) E3 ligase complex, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. The resulting polyubiquitination leads to protein degradation. Also ubiquitinated by SCF(BTRC) following stimulus-dependent phosphorylation at Ser-32 and Ser-36.
messages: Nucleus
messages: Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity. Phosphorylation at positions 32 and 36 is prerequisite to recognition by UBE2D3 leading to polyubiquitination and subsequent degradation.
messages: Sumoylated; sumoylation requires the presence of the nuclear import signal. Sumoylation blocks ubiquitination and proteasome-mediated degradation of the protein thereby increasing the protein stability.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:UCHL3
gene id: 9606:UCHL3
uniprot id: A0A087WTB8
uniprot id: A0A140VJZ4
uniprot id: P15374
names: Activity Regulation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the peptidase C12 family.
messages: Cytoplasm
messages: Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3'', and exhibits a preference towards 'Lys-48'-linked ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders.
messages: Highly expressed in heart, skeletal muscle, and testis.
messages: Identified as a tumor-specific antigen in colon cancer.
messages: Inhibited by monoubiquitin and diubiquitin.
messages: Preferentially binds diubiquitin; the interaction does not hydrolyze diubiquitin but, in vitro, inhibits the hydrolyzing activity on other substrates.

9606:FAM3B
gene id: 9606:FAM3B
uniprot id: P58499
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: 2 N-termini have been observed in the mature protein: the first at Glu-30, resulting from signal peptide cleavage, the second at Ser-46.
messages: Belongs to the FAM3 family.
messages: Highly expressed in the pancreas. Also found in the colon, kidney, prostate, small intestine and testis.
messages: Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner.
messages: O-glycosylated.
messages: Secreted

9606:PPARA
gene id: 9606:PPARA
uniprot id: F1D8S4
uniprot id: Q07869
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the nuclear hormone receptor family. NR1 subfamily.
messages: Down-regulated by aging.
messages: Heterodimer; with RXRA. This heterodimerization is required for DNA binding and transactivation activity. Interacts with NCOA3 coactivator. Interacts with CITED2; the interaction stimulates its transcriptional activity. Also interacts with PPARBP in vitro. Interacts with AKAP13, LPIN1, PRDM16 and coactivator NCOA6. Interacts with ASXL1 and ASXL2. Interacts with PER2. Interacts with SIRT1; the interaction seems to be modulated by NAD(+) levels (PubMed:24043310). Interacts with CRY1 and CRY2 (By similarity).
messages: Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and is antagonized by NR2C2. May be required for the propagation of clock information to metabolic pathways regulated by PER2.
messages: Nucleus
messages: Skeletal muscle, liver, heart and kidney. Expressed in monocytes (PubMed:28167758).

9606:ARHGDIG
gene id: 9606:ARHGDIG
uniprot id: F1T0H7
uniprot id: Q99819
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the Rho GDI family.
messages: Cytoplasm
messages: Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post-translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP.
messages: Primarily expressed in pancreas and brain.

9606:ALS2
gene id: 9606:ALS2
uniprot id: Q96Q42
names: Disease Annotation
names: Function
names: Subunit
messages: Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.
messages: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:MT1B
gene id: 9606:MT1B
uniprot id: P07438
names: Domain
names: Function
names: Similarity
names: Subunit
messages: Belongs to the metallothionein superfamily. Type 1 family.
messages: Class I metallothioneins contain 2 metal-binding domains: four divalent ions are chelated within cluster A of the alpha domain and are coordinated via cysteinyl thiolate bridges to 11 cysteine ligands. Cluster B, the corresponding region within the beta domain, can ligate three divalent ions to 9 cysteines.
messages: Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.
messages: Monomer.

9606:PARP11
gene id: 9606:PARP11
uniprot id: Q9NR21
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
messages: Auto-mono-ADP-ribosylated.
messages: Belongs to the ARTD/PARP family.
messages: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
messages: Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins (PubMed:25043379, PubMed:25673562). Plays a role in nuclear envelope stability and nuclear remodeling during spermiogenesis (By similarity).
messages: nuclear pore complex

9606:UTP23
gene id: 9606:UTP23
uniprot id: Q9BRU9
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the UTP23/FCF1 family. UTP23 subfamily.
messages: Involved in rRNA-processing and ribosome biogenesis.
messages: nucleolus

9606:GINS3
gene id: 9606:GINS3
uniprot id: A0A0S2Z5L0
uniprot id: A0A0S2Z5L4
uniprot id: A0A0S2Z5P2
uniprot id: Q9BRX5
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the GINS3/PSF3 family.
messages: Chromosome
messages: Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4 (PubMed:17170760, PubMed:17417653, PubMed:17545466, PubMed:17557111, PubMed:17652513, PubMed:28414293, PubMed:32453425). Forms a stable subcomplex with GINS2 (PubMed:17170760, PubMed:17417653, PubMed:17545466, PubMed:17557111, PubMed:17652513, PubMed:28414293). GINS complex interacts with DNA primase in vitro (PubMed:17170760, PubMed:17417653, PubMed:17545466, PubMed:17557111, PubMed:17652513, PubMed:28414293). Component of the CMG helicase complex, a hexameric ring of related MCM2-7 subunits stabilized by CDC45 and the tetrameric GINS complex (PubMed:34700328, PubMed:34694004, PubMed:32453425).
messages: Component of the GINS complex.
messages: Nucleus
messages: Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653, PubMed:28414293). GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232).
messages: The GINS complex plays an essential role in the initiation of DNA replication.

9606:ASB18
gene id: 9606:ASB18
uniprot id: Q6ZVZ8
names: Domain
names: Function
names: Sequence Caution
names: Similarity
messages: Belongs to the ankyrin SOCS box (ASB) family.
messages: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
messages: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.
messages: Unlikely isoform. Aberrant splice sites.

9606:GUCY1A2
gene id: 9606:GUCY1A2
uniprot id: P33402
names: Activity Regulation
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Activated by nitric oxide in the presence of magnesium or manganese ions.
messages: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
messages: Cytoplasm
messages: Has guanylyl cyclase on binding to the beta-1 subunit.
messages: Heterodimer of an alpha and a beta chain.
messages: Isoform 1 is expressed in fetal brain, liver, colon, endothelium and testis. Isoform 2 is expressed only in liver, colon and endothelium.
messages: Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits.
messages: There are two types of guanylate cyclases: soluble forms and membrane-associated receptor forms.

9606:XCL1
gene id: 9606:XCL1
uniprot id: P47992
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the intercrine gamma family.
messages: Chemotactic activity for lymphocytes but not for monocytes or neutrophils. In thymus, mediates medullary accumulation of thymic dendritic cells and contributes to regulatoy T cell development, playing a role in self-tolerance establishment.
messages: Highest level in spleen, lower in peripheral leukocytes and very low levels in lung, colon and small intestine.
messages: Secreted

9606:SULT1C2
gene id: 9606:SULT1C2
uniprot id: O00338
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the sulfotransferase 1 family.
messages: Cytoplasm
messages: Found in adult stomach, kidney and thyroid gland, and in fetal kidney and liver.
messages: Lysosome
messages: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Sulfonates p-nitrophenol, a small phenolic compond. Does not sulfonate steroids, dopamine, acetaminophen, or alpha-naphthol (PubMed:9852044, PubMed:10783263, PubMed:10481272). Catalyzes the sulfonation of the carcinogenic N-Hydroxy-2-acetylaminofluorene leading to highly reactive intermediates capable of forming DNA adducts, potentially resulting in mutagenesis (PubMed:9852044).

9606:PIH1D2
gene id: 9606:PIH1D2
uniprot id: Q8WWB5
names: Miscellaneous
names: Similarity
messages: Belongs to the PIH1 family.
messages: May be due to a competing donor splice site.

9606:MIA
gene id: 9606:MIA
uniprot id: Q16674
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: All malignant melanoma cell lines tested and infrequently in glioma cell lines.
messages: Belongs to the MIA/OTOR family.
messages: Elicits growth inhibition on melanoma cells in vitro as well as some other neuroectodermal tumors, including gliomas.
messages: Interacts with FASLG. Interacts with TMIGD2.
messages: May possess two intramolecular disulfide bonds.
messages: Secreted

9606:ULBP2
gene id: 9606:ULBP2
uniprot id: Q9BZM5
names: Function
names: Miscellaneous
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) In CMV-infected cells, interacts with the viral glycoprotein UL16; this interaction causes ULBP2 retention in the endoplasmic reticulum and cis-Golgi and prevents binding to and activation of KLRK1/NKG2D, providing CMV with an immune evasion mechanism.
messages: Belongs to the MHC class I family.
messages: Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.
messages: Cell membrane
messages: Endoplasmic reticulum
messages: Expressed in various types of cancer cell lines and in the fetus, but not in normal tissues.
messages: Interacts with KLRK1/NKG2D (PubMed:11777960). Does not bind to beta2-microglobulin (PubMed:12782710).
messages: Secreted
messages: UL16-binding proteins (ULBPs) are unusual members of the extended MHC class I superfamily. They do not contain the alpha 3 domain and lack a transmembrane domain.

9606:PEX11G
gene id: 9606:PEX11G
uniprot id: Q96HA9
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peroxin-11 family.
messages: Homodimer. Heterodimer with either PEX11A or PEX11B. Interacts with FIS1.
messages: Peroxisome membrane
messages: Promotes membrane protrusion and elongation on the peroxisomal surface.

9606:CAB39L
gene id: 9606:CAB39L
uniprot id: A0A024RDT3
uniprot id: Q9H9S4
names: Function
names: Miscellaneous
names: Similarity
names: Subunit
messages: Belongs to the Mo25 family.
messages: Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 (By similarity).
messages: Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1.
messages: Component of a trimeric complex composed of STK11/LKB1, STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta): the complex tethers STK11/LKB1 in the cytoplasm and stimulates its catalytic activity.
messages: Found in serum of 50% of patients with acute monocytic leukemia.

9606:GPR162
gene id: 9606:GPR162
uniprot id: Q16538
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Orphan receptor.

9606:GOLGA8A
gene id: 9606:GOLGA8A
uniprot id: A7E2F4
names: Caution
names: Function
names: Sequence Caution
names: Similarity
names: Subcellular Location Annotation
messages: A family of highly similar proteins (GOLGA8A, GOLGA8B, GOLGA8C, GOLGA8D, GOLGA8E, GOLGA8F, GOLGA8G) are encoded by a repeated region on chromosome 15q11-15q13. Our sequences are in agreement with HGNC nomenclature.
messages: Belongs to the GOLGA8 family.
messages: Golgi stack membrane
messages: May be involved in maintaining Golgi structure.
messages: Probable cloning artifact.

9606:FBXL8
gene id: 9606:FBXL8
uniprot id: Q96CD0
names: Caution
names: Function
names: Subunit
messages: Directly interacts with SKP1 and CUL1.
messages: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
messages: While the gene symbol and protein names are indicative of the presence of LRR repeats, such repeats are not present in this protein.

9606:SPDYE3
gene id: 9606:SPDYE3
uniprot id: A6NKU9
names: Similarity
names: Tissue Specificity
messages: Belongs to the Speedy/Ringo family.
messages: Predominantly expressed in testis and spleen.

9606:SCAF11
gene id: 9606:SCAF11
uniprot id: Q99590
names: Function
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Contaminating sequence. Potential poly-A sequence.
messages: Interacts with SRSF2/SFRS2, U2AF2 and SNRNP70.
messages: Nucleus
messages: Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly.
messages: Widely expressed.

9606:CAMLG
gene id: 9606:CAMLG
uniprot id: P49069
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: (Microbial infection) Interacts with human herpes virus 8/HHV-8 protein K7; this interaction modulates intracellular calcium concentration.
messages: Component of the Golgi to ER traffic (GET) complex, which is composed of GET1/WRB, CAMLG/GET2 and GET3/TRC40 (PubMed:23041287, PubMed:24392163, PubMed:32910895). Within the complex, GET1 and CAMLG form a heterotetramer which is stabilized by phosphatidylinositol binding and which binds to the GET3 homodimer (PubMed:32910895). Interacts (via C-terminus) with GET1 (PubMed:24392163, PubMed:31417168, PubMed:32187542). Interacts (via N-terminus) with GET3 (By similarity). GET3 shows a higher affinity for CAMLG than for GET1 (PubMed:24392163). Interacts (via N-terminus) with TNFRSF13B/TACI (via C-terminus) (PubMed:9311921).
messages: Endoplasmic reticulum membrane
messages: Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (PubMed:23041287, PubMed:24392163, PubMed:27226539). Together with GET1/WRB, acts as a membrane receptor for soluble GET3/TRC40, which recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol (PubMed:23041287, PubMed:24392163, PubMed:27226539). Required for the stability of GET1 (PubMed:32187542). Stimulates calcium signaling in T cells through its involvement in elevation of intracellular calcium (PubMed:7522304). Essential for the survival of peripheral follicular B cells (By similarity).
messages: Ubiquitous. Highest levels in brain, testis and ovary.

9606:ABCG5
gene id: 9606:ABCG5
uniprot id: Q9H222
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).
messages: Apical cell membrane
messages: Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
messages: Cell membrane
messages: Heterodimer with ABCG8.
messages: N-glycosylated.
messages: Strongly expressed in the liver, lower levels in the small intestine and colon.
messages: The ATPase activity of the heterodimer is stimulated by cholate. Taurocholate, glycocholate, taurochenodeoxycholate, glycochenodeoxycholate and taurodeoxycholate also stimulate ATPase activity, but to a lower degree. Glycodeoxycholate has no significant effect on ATPase activity. ATPase activity is inhibited by vanadate and by berillium fluoride.
messages: The Walker motif (consensus sequence G-X-X-G-X-G-K-[ST]-T) is expected to bind ATP. Within this motif, the conserved Lys is essential for transport activity mediated by the heterodimer with ABCG8.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NVL
gene id: 9606:NVL
uniprot id: O15381
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the AAA ATPase family.
messages: Interacts with NCL/nucleolin (PubMed:21474449). Isoform 1 and isoform 2 interact with TERT and isoform 1 exhibits a higher binding affinity for TERT compared to isoform 2 (PubMed:22226966). Isoform 1 interacts with MTREX in an ATP-dependent manner; the interaction is required to associate NVL with nuclear RNA exosome (PubMed:26166824, PubMed:31358741, PubMed:16782053). Isoform 1 interacts with RPL5 in an ATP-dependent manner (PubMed:15469983). Interacts with WDR74 (through WDR repeats); the interaction is independent of RNA or pre-60S ribosome particles (PubMed:28416111).
messages: Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT (PubMed:22226966). Involved in both early and late stages of the pre-rRNA processing pathways (PubMed:26166824). Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus (PubMed:15469983, PubMed:16782053, PubMed:29107693, PubMed:26456651). Catalyzes the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity (PubMed:29107693, PubMed:26456651, PubMed:28416111).
messages: Widely expressed. Highest level of expression in heart, placenta, skeletal muscle, pancreas and retina.
messages: nucleolus
messages: nucleoplasm

9606:ASXL1
gene id: 9606:ASXL1
uniprot id: Q8IXJ9
names: Caution
names: Disease Annotation
names: Domain
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the Asx family.
messages: Component of the PR-DUB complex, at least composed of BAP1 and ASXL1 (PubMed:20436459). Interacts with RARA, RXRA and NCOA1 (PubMed:16606617). Interacts with PPARA and PPARG (By similarity).
messages: Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which may be required for an association with nuclear receptors.
messages: Nucleus
messages: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744).
messages: The HARE HTH-type domain recognizes and binds N(6)-methyladenosine methylated DNA (m6A).
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Ubiquitinated by TRIP12, leading to its subsequent degradation following binding N(6)-methyladenosine methylated DNA (m6A).
messages: Was previously reported to interact with KDM1A, CBX1, CBX3 and CBX5. However, this publication has been retracted.
messages: Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas, spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed in testes.

9606:PTP4A1
gene id: 9606:PTP4A1
uniprot id: Q93096
names: Activity Regulation
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the protein-tyrosine phosphatase family.
messages: Cell membrane
messages: Cytoplasm
messages: Early endosome
messages: Endoplasmic reticulum
messages: Expressed in bone marrow, lymph nodes, T lymphocytes, spleen, thymus and tonsil. Overexpressed in tumor cell lines.
messages: Expressed in fetal liver.
messages: Farnesylated. Farnesylation is required for membrane targeting. Unfarnesylated forms are shifted into the nucleus.
messages: Homotrimer. Interacts with ATF5 (By similarity). Interacts with tubulin.
messages: Inhibited by sodium orthovanadate and pentamidine.
messages: Nucleus
messages: Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. May play a role in the development and maintenance of differentiating epithelial tissues. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis.
messages: Strongly down-regulated upon tetrodotoxin treatment.
messages: spindle

9606:WDR76
gene id: 9606:WDR76
uniprot id: A0A0C4DFX7
uniprot id: Q9H967
names: Function
names: Similarity
names: Subunit
messages: Belongs to the WD repeat DDB2/WDR76 family.
messages: Interacts with CUL4A and/or CUL4B.
messages: Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC.

9606:AGBL4
gene id: 9606:AGBL4
uniprot id: Q5VU57
names: Cofactor
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the peptidase M14 family.
messages: Binds 1 zinc ion per subunit.
messages: Golgi apparatus
messages: Interacts with MYLK.
messages: Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK. Mediates the deglutamylation of nucleotidyltransferase CGAS, leading to CGAS antiviral defense response activation (By similarity). Involved in KLF4 deglutamylation which promotes KLF4 proteasome-mediated degradation, thereby negatively regulating cell pluripotency maintenance and embryogenesis (PubMed:29593216).
messages: centriole
messages: cilium basal body
messages: cytosol

9606:RS1
gene id: 9606:RS1
uniprot id: O15537
names: Developmental Stage
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009).
messages: Cell membrane
messages: Homooctamer of 4 homodimers; disulfide-linked (PubMed:15644328, PubMed:19849666). The homooctamer has a flat, cogwheel structure with a diameter of about 14 nm (PubMed:27798099, PubMed:26812435, PubMed:27114531). Two stacked octamers can assemble to form a hexadecamer (PubMed:27798099, PubMed:26812435, PubMed:27114531).
messages: Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level) (PubMed:10915776). Detected in retina (PubMed:9326935). Detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors (PubMed:10915776). Undetectable in the inner plexiform layers and the inner nuclear layer (PubMed:10915776).
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated during the differentiation of a retinoblastoma cell line.

9606:ADGRB3
gene id: 9606:ADGRB3
uniprot id: O60242
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Autoproteolysis appears to be cell specific, does not readily undergo proteolytic cleavage in HEK293T cells.
messages: Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
messages: Cell membrane
messages: Forms a heterodimer, consisting of a large extracellular region non-covalently linked to a seven-transmembrane moiety. Interacts (via TSP N-terminal domains) with C1QL1, C1QL2, C1QL3 and C1QL4 (PubMed:21262840). Interacts with ELMO1, ELMO2 and ELMO3 (PubMed:24567399).
messages: Receptor that plays a role in the regulation of synaptogenesis and dendritic spine formation at least partly via interaction with ELMO1 and RAC1 activity (By similarity). Promotes myoblast fusion through ELMO/DOCK1 (PubMed:24567399).
messages: Strongly expressed in brain. Also detected in heart. Reduced expression in some glioblastoma cell lines.
messages: The endogenous protein is proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit.

9606:MICOS10-NBL1
gene id: 9606:MICOS10-NBL1
uniprot id: P41271
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DAN family.
messages: Homodimer.
messages: Most abundant in normal lung and meningioma.
messages: Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process.
messages: Secreted

9606:PCDH19
gene id: 9606:PCDH19
uniprot id: Q8TAB3
names: Developmental Stage
names: Disease Annotation
names: Function
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Cell membrane
messages: Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence.
messages: Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.
messages: Potential calcium-dependent cell-adhesion protein.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:ITIH5
gene id: 9606:ITIH5
uniprot id: C9J2H1
uniprot id: Q86UX2
names: Caution
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Abundantly expressed in placenta. Less abundant expression in mammary gland and ovary. Expression is barely detectable levels in all other tissues tested.
messages: Belongs to the ITIH family.
messages: Conflict in position 933 in the human genome assembly due to a frameshift.
messages: Down-regulated in breast tumors.
messages: May act as a tumor suppressor.
messages: Secreted

9606:HAT1
gene id: 9606:HAT1
uniprot id: O14929
names: Developmental Stage
names: Function
names: Induction
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Contributes to hepatitis B virus (HBV) replication by acetylating histone H4 at the sites of 'Lys-5' and 'Lys-12' on the covalently closed circular DNA (cccDNA) minichromosome leading to its accumulation within the host cell.
messages: Belongs to the HAT1 family.
messages: By viruses and interferons (PubMed:31812350). Up-regulated also by estrogen (PubMed:12841681).
messages: Catalytic subunit of the type B histone acetyltransferase (HAT) complex, composed of RBBP7 and HAT1. Interacts with histones H4 and H2A. The interaction is dependent of the ability of RBBP7 to bind to the N-terminus of histones. Component of the histone H3.1 and H3.3 complexes.
messages: Cytoplasm
messages: Highly expressed in mitotic cells (at protein level).
messages: Histone acetyltransferase that plays a role in different biological processes including cell cycle progression, glucose metabolism, histone production or DNA damage repair (PubMed:31278053, PubMed:20953179, PubMed:23653357, PubMed:32081014). Coordinates histone production and acetylation via H4 promoter binding (PubMed:31278053). Acetylates histone H4 at 'Lys-5' (H4K5ac) and 'Lys-12' (H4K12ac) and, to a lesser extent, histone H2A at 'Lys-5' (H2AK5ac) (PubMed:22615379, PubMed:11585814). Drives H4 production by chromatin binding to support chromatin replication and acetylation. Since transcription of H4 genes is tightly coupled to S-phase, plays an important role in S-phase entry and progression (PubMed:31278053). Promotes homologous recombination in DNA repair by facilitating histone turnover and incorporation of acetylated H3.3 at sites of double-strand breaks (PubMed:23653357). In addition, acetylates other substrates such as chromatin-related proteins (PubMed:32081014). Acetylates also RSAD2 which mediates the interaction of ubiquitin ligase UBE4A with RSAD2 leading to RSAD2 ubiquitination and subsequent degradation (PubMed:31812350).
messages: Mitochondrion
messages: Nucleus
messages: Nucleus matrix
messages: Phosphorylated by AMPK at Ser-190; phosphorylation increases HAT1 activity.
messages: nucleoplasm

9606:ZNF570
gene id: 9606:ZNF570
uniprot id: Q96NI8
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:NOD2
gene id: 9606:NOD2
uniprot id: Q9HC29
names: Disease Annotation
names: Domain
names: Function
names: Induction
names: Miscellaneous
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Basolateral cell membrane
messages: Can activate NF-kappa-B.
messages: Can activate NF-kappa-B. More abundant.
messages: Cell membrane
messages: Component of a signaling complex consisting of ARHGEF2, NOD2 and RIPK2 (PubMed:11087742, PubMed:21887730). Interacts (via CARD domain) with RIPK2 (via CARD domain) (PubMed:19592251, PubMed:21887730, PubMed:27812135). Interacts with ATG16L1 (PubMed:20637199, PubMed:23376921). Interacts (via NACHT domain) with CARD9 (PubMed:24960071). Interacts with ANKRD17 (via N-terminus) (PubMed:23711367). Interacts with HSPA1A; the interaction enhances NOD2 stability (PubMed:24790089). Interacts (via both CARD domains) with HSP90; the interaction enhances NOD2 stability (PubMed:23019338). Interacts (via CARD domain) with SOCS3; the interaction promotes NOD2 degradation (PubMed:23019338). Interacts (via CARD domain) with ERBBI2P; the interaction inhibits activation of NOD2 (PubMed:16203728). Interacts (via CARD domain) with CASP1; this interaction leads to IL1B processing. Also interacts with CASP4. Interacts with NLRP1; this interaction is enhanced in the presence of muramyl dipeptide (MDP) and leads to increased IL1B release (PubMed:18511561). Interacts with MAPKBP1; the interaction is enhanced in the presence of muramyl dipeptide (MDP) (PubMed:22700971). Interacts with INAVA; the interaction takes place upon PRR stimulation (PubMed:28436939). Interacts with ANKHD1, C10ORF67, CHMP5, DOCK7, ENTR1, KRT15, LDOC1, PPP1R12C, PPP2R3B, TRIM41 and VIM (PubMed:27812135). Interacts with NLRP12; this interaction promotes degradation of NOD2 through the ubiquitin-proteasome pathway (PubMed:30559449).
messages: Cytoplasm
messages: Disease susceptibility is associated with variants affecting the gene represented in this entry.
messages: Intramolecular interactions between the N-terminal moiety and the leucine-rich repeats (LRR) may be important for autoinhibition in the absence of activating signal. In the absence of LRRs, the protein becomes a constitutive activator of CASP1 cleavage and proIL1B processing.
messages: Mainly expressed in monocytes (PubMed:11087742). Expressed also in intestinal mucosa, mainly in Paneth cells and, at lower extent, in the glandular epithelium (PubMed:22700971).
messages: Membrane
messages: Mitochondrion
messages: Palmitoylated. Palmitoylation is required for proper recruitment to the bacterial entry site and hence for proper signaling upon cognate peptidoglycan detection.
messages: Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity (PubMed:12527755). Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling (PubMed:11087742, PubMed:21887730). This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages (PubMed:18511561). Component of an autophagy-mediated antibacterial pathway together with ATG16L1 (PubMed:20637199). Also plays a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon (PubMed:19701189). Besides recognizing pathogens, participates in surveillance of cellular homeostasis through sensing and binding to the cytosolic metabolite sphingosine-1-phosphate and then initating inflammation process (PubMed:33942347).
messages: Polyubiquitinated following MDP stimulation, leading to proteasome-mediated degradation (PubMed:23019338).
messages: The ATG16L1-binding motif mediates interaction with ATG16L1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated by muramyl-dipeptide and lipopolysaccharide.

9606:ACAP3
gene id: 9606:ACAP3
uniprot id: Q8WTZ1
uniprot id: Q96P50
names: Activity Regulation
names: Domain
names: Function
names: Subcellular Location Annotation
messages: Endosome membrane
messages: GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid.
messages: GTPase-activating protein for the ADP ribosylation factor family.
messages: PH domain binds phospholipids including phosphatidic acid, phosphatidylinositol 3-phosphate, phosphatidylinositol 3,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3). May mediate protein binding to PIP2 or PIP3 containing membranes.
messages: The BAR domain mediates homodimerization, it can neither bind membrane nor impart curvature, but instead requires the neighboring PH domain to achieve these functions.

9606:NR5A2
gene id: 9606:NR5A2
uniprot id: F1D8R9
uniprot id: O00482
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line. Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells.
messages: Belongs to the nuclear hormone receptor family. NR5 subfamily.
messages: Binds DNA as a monomer (By similarity). Interacts with GRIP1, NCOA2 and NR0B2 (PubMed:15707893, PubMed:15723037, PubMed:15897460, PubMed:16289203). Interacts (when sumoylated) with GPS2; interaction with GPS2 onto hepatic acute phase protein promoters prevents N-Cor corepressor complex dissociation (PubMed:20159957).
messages: Does not induce CYP7A promoter activity.
messages: Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid metabolism. Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development. Activates the transcription of CYP2C38 (By similarity).
messages: Nucleus
messages: Sumoylated by SUMO1 at Lys-270 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation.

9606:UQCR11
gene id: 9606:UQCR11
uniprot id: O14957
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the UQCR11/QCR10 family.
messages: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1 (By similarity). The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695).
messages: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. QCR10 has a role in CIII assembly and RIP1 stability.
messages: Mitochondrion inner membrane

9606:C15orf61
gene id: 9606:C15orf61
uniprot id: A6NNL5
names: Subcellular Location Annotation
messages: Secreted

9606:UNCX
gene id: 9606:UNCX
uniprot id: A6NJT0
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the paired homeobox family. Unc-4 subfamily.
messages: Nucleus
messages: Transcription factor involved in somitogenesis and neurogenesis. Required for the maintenance and differentiation of particular elements of the axial skeleton. May act upstream of PAX9. Plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and to deliver hormones for control of peripheral functions (By similarity).

9606:SEC22A
gene id: 9606:SEC22A
uniprot id: Q96IW7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the synaptobrevin family.
messages: Endoplasmic reticulum membrane
messages: May be involved in vesicle transport between the ER and the Golgi complex.

9606:DNAI7
gene id: 9606:DNAI7
uniprot id: B4E376
uniprot id: Q6TDU7
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the DNAI7 family.
messages: Cytoplasm
messages: Part of the multisubunit axonemal dynein complex formed at least of two heavy chains and a number of intermediate and light chains. Interacts with tubulin. Associates with microtubule.
messages: Ubiquitinated. Ubiquitination leads to its degradation through the 26S proteasome. Ubiquitin-proteasome-mediated DNAI7 degradation occurs in mitosis.
messages: Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function. May also act as a cell cycle regulator.
messages: cilium

9606:CEP164
gene id: 9606:CEP164
uniprot id: Q9UPV0
names: Disease Annotation
names: Function
names: PTM
names: Sequence Caution
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Contaminating sequence. Potential poly-A sequence.
messages: Expressed in several cell lines.
messages: Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus) upon UV irradiation. Interacts with CEP83, CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4. Interacts with DZIP1 (By similarity).
messages: Nucleus
messages: Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation.
messages: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: centriole

9606:RNF151
gene id: 9606:RNF151
uniprot id: Q2KHN1
names: Function
names: Subcellular Location Annotation
names: Subunit
messages: Cytoplasm
messages: Interacts with DTNBP1.
messages: May be involved in acrosome formation of spermatids.
messages: Nucleus

9606:RAMP1
gene id: 9606:RAMP1
uniprot id: E9PC20
uniprot id: O60894
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the RAMP family.
messages: Expressed in many tissues including the uterus, bladder, brain, pancreas and gastro-intestinal tract.
messages: Heterodimer of CALCRL and RAMP1.
messages: Membrane
messages: Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL.

9606:GHRHR
gene id: 9606:GHRHR
uniprot id: A0A090N8Y6
uniprot id: Q02643
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 2 family.
messages: Cell membrane
messages: Membrane
messages: Pituitary gland.
messages: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
messages: The disease is caused by variants affecting the gene represented in this entry.

9606:NYAP1
gene id: 9606:NYAP1
uniprot id: Q6ZVC0
names: Function
names: PTM
names: Similarity
names: Subunit
messages: Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis.
messages: Belongs to the NYAP family.
messages: Interacts with ACOT9, ARHGAP26 and PIK3R2. Interacts with components of the WAVE1 complex, CYFIP1 and NCKAP1; this interaction mediates PI3K-WAVE1 association and actin cytoskeleton remodeling (By similarity).
messages: Phosphorylated on tyrosine residues by FYN upon stimulation with CNTN5.

9606:POTEB2
gene id: 9606:POTEB2
uniprot id: H3BUK9
names: Caution
names: Similarity
messages: Belongs to the POTE family.
messages: Maps to a duplicated region on chromosome 15; the gene is present in at least 3 almost identical copies.

9606:PRDM1
gene id: 9606:PRDM1
uniprot id: A0A3B3IU23
uniprot id: B4DW27
uniprot id: O75626
uniprot id: Q5T4E8
names: Disease Annotation
names: Function
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class V-like SAM-binding methyltransferase superfamily.
messages: Cytoplasm
messages: In certain aggressive cases of activated B cell-like diffuse large B-cell lymphoma (ABC-DLBCL), PRDM1 protein instability has been observed. This instability, which impairs B-cell differentiation, is caused by N-terminal misfolding mutations, including those occurring at positions Pro-84 and Ile-107, and results in PRDM1 protein sequestration in the cytoplasm, followed by proteasomal degradation via a heat shock protein 70 HSPA1A-SYNV1/HRD1 pathway. These N-terminal mutations do not affect PRDM1 transcription regulation activity. HSPA1A inhibition restores PRDM1 nuclear localization and transcriptional activity in lymphoma cell lines and suppresses tumor growth in xenografts, more efficiently than proteasome inhibition.
messages: Interacts with PRMT5 (By similarity). Interacts with FBXO10 (PubMed:24613396). Interacts with FBXO11 (PubMed:24613396, PubMed:24968003). Interacts with multiple nuclear sumoylation E3 ligases, including CBX4, PIAS1, PIAS2, PIAS3, PIAS4, PML and RNF4, but not RANBP2 (PubMed:28842558). Interacts with LDB1, SMARCD3 and SMARCC1 (PubMed:32417234).
messages: Interacts with PRMT5. Interacts with FBXO10. Interacts with FBXO11.
messages: Nucleus
messages: Sumoylation at Lys-816 by PIAS1 augments transcriptional repressor activity, and is critical for plasma cell differentiation (PubMed:22555612). Can be sumoylated with SUMO1 and SUMO2 by PML. Degradation of the wild-type protein mostly depends upon sumoylation, rather than ubiquitination (PubMed:28842558). Desumoylated by SENP1 and SENP6 (PubMed:28842558).
messages: Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection (By similarity). Binds specifically to the PRDI element in the promoter of the beta-interferon gene (PubMed:1851123). Drives the maturation of B-lymphocytes into Ig secreting cells (PubMed:12626569). Associates with the transcriptional repressor ZNF683 to chromatin at gene promoter regions (By similarity).
messages: Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection. Binds specifically to the PRDI element in the promoter of the beta-interferon gene. Drives the maturation of B-lymphocytes into Ig secreting cells. Associates with the transcriptional repressor ZNF683 to chromatin at gene promoter regions.
messages: Ubiquitinated by the SCF(FBXO11) complex, leading to its degradation by the proteasome.

9606:SMIM21
gene id: 9606:SMIM21
uniprot id: Q3B7S5
names: Subcellular Location Annotation
messages: Membrane

9606:ZFP41
gene id: 9606:ZFP41
uniprot id: Q8N8Y5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: A putative DNA-binding regulatory protein associated with meiosis in spermatogenesis.
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: Nucleus

9606:URGCP
gene id: 9606:URGCP
uniprot id: A0A024RA74
uniprot id: B2RAT5
uniprot id: B7Z7T1
uniprot id: Q8TCY9
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TRAFAC class dynamin-like GTPase superfamily. Very large inducible GTPase (VLIG) family.
messages: By HBxAg. Up-regulated in gastric cancer tissues and also in gastric cancer cell lines (at protein level).
messages: Cytoplasm
messages: May be involved in cell cycle progression through the regulation of cyclin D1 expression. May participate in the development of hepatocellular carcinoma (HCC) by promoting hepatocellular growth and survival. May play an important role in development of gastric cancer.
messages: Nucleus
messages: Strongly expressed in hepatitis B virus-infected liver and in HCC cells. Also highly expressed in well-differentiated gastric cancer tissues and various gastric cancer cell lines.

9606:DOCK1
gene id: 9606:DOCK1
uniprot id: A0A2X0U2H5
uniprot id: B2RUU3
uniprot id: Q14185
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the DOCK family.
messages: Cytoplasm
messages: Highly expressed in placenta, lung, kidney, pancreas and ovary. Expressed at intermediate level in thymus, testes and colon.
messages: Interacts with the SH3 domains of CRK and NCK2 via multiple sites (PubMed:8657152, PubMed:8662907, PubMed:11240126). Interacts with nucleotide-free RAC1 via its DOCKER domain (PubMed:9808620, PubMed:12134158). Interacts with ELMO1, ELMO2 and probably ELMO3 via its SH3 domain (PubMed:12134158). Interacts with ADGRB1. Identified in a complex with AUTS2 and ELMO2 (By similarity).
messages: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829). Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1 (PubMed:8657152).
messages: Membrane
messages: The DOCKER domain is necessary and sufficient for the GEF activity.

9606:FFAR1
gene id: 9606:FFAR1
uniprot id: O14842
names: Activity Regulation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the G-protein coupled receptor 1 family.
messages: Cell membrane
messages: Detected in brain and pancreas. Detected in pancreatic beta cells.
messages: G-protein coupled receptor for medium and long chain saturated and unsaturated fatty acids that plays an important role in glucose homeostasis. Fatty acid binding increases glucose-stimulated insulin secretion, and may also enhance the secretion of glucagon-like peptide 1 (GLP-1). May also play a role in bone homeostasis; receptor signaling activates pathways that inhibit osteoclast differentiation (By similarity). Ligand binding leads to a conformation change that triggers signaling via G-proteins that activate phospholipase C, leading to an increase of the intracellular calcium concentration. Seems to act through a G(q) and G(i)-mediated pathway. Mediates the anti-inflammatory effects of omega-3 polyunsaturated fatty acids (PUFAs) via inhibition of NLRP3 inflammasome activation.
messages: The receptor is strongly activated by gamma-linolenic acid, while myristate gives a lower response. It is also activated by phytanic acid and pristanic acid (PubMed:21570468). Is also activated by synthetic agonists, such as TAK-875 (fasiglifam); this compound is a partial agonist and potentiates the activity of the endogenous ligand gamma-linolenic acid (PubMed:24130766).

9606:LIPN
gene id: 9606:LIPN
uniprot id: Q5VXI9
names: Developmental Stage
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the AB hydrolase superfamily. Lipase family.
messages: Highly expressed in the epidermis in the granular keratinocytes. Also detected in other tissues, although at much lower levels, including lung and spleen.
messages: Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.
messages: Secreted
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: Up-regulated during epidermal differentiation.

9606:POLA1
gene id: 9606:POLA1
uniprot id: A6NMQ1
uniprot id: P09884
names: Activity Regulation
names: Disease Annotation
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: (Microbial infection) Interacts with SV40 Large T antigen; this interaction allows viral DNA replication.
messages: (Microbial infection) Interacts with herpes simplex virus 1/HHV-1 replication origin-binding protein UL9.
messages: A 165 kDa form is probably produced by proteolytic cleavage at Lys-124.
messages: Autoinhibited in apo-primosome, where the zinc motif of POLA1 and oligonucleotide/olicosaccharide-binding domain of POLA2 are placed into the active site blocking RNA:DNA duplex entry.
messages: Belongs to the DNA polymerase type-B family.
messages: Catalytic subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, a regulatory subunit POLA2 and two primase subunits PRIM1 and PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3' exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes. In the cytosol, responsible for a substantial proportion of the physiological concentration of cytosolic RNA:DNA hybrids, which are necessary to prevent spontaneous activation of type I interferon responses (PubMed:27019227).
messages: Component of the alpha DNA polymerase complex (also known as the alpha DNA polymerase-primase complex) consisting of four subunits: the catalytic subunit POLA1, the regulatory subunit POLA2, and the primase complex subunits PRIM1 and PRIM2 respectively (PubMed:9705292, PubMed:26975377). Interacts with PARP1; this interaction functions as part of the control of replication fork progression (PubMed:9518481). Interacts with MCM10 and WDHD1; these interactions recruit the polymerase alpha complex to the pre-replicative complex bound to DNA (PubMed:19608746). Interacts with RPA1; this interaction stabilizes the replicative complex and reduces the misincorporation rate of DNA polymerase alpha by acting as a fidelity clamp (PubMed:9214288).
messages: In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis.
messages: Nucleus
messages: The CysA-type zinc finger is required for PCNA-binding.
messages: The disease is caused by variants affecting the gene represented in this entry.
messages: The disease is caused by variants affecting the gene represented in this entry. XLPDR is caused by a recurrent intronic mutation that results in missplicing and reduced POLA1 expression. This leads to a decrease in cytosolic RNA:DNA hybrids and constitutive activation of type I interferon responses, but has no effect on cell replication.
messages: cytosol

9606:KRTAP1-3
gene id: 9606:KRTAP1-3
uniprot id: Q8IUG1
names: Function
names: Polymorphism
names: Similarity
names: Subunit
names: Tissue Specificity
messages: Belongs to the KRTAP type 1 family.
messages: Expressed in the middle/upper portions of the hair cortex, in the region termed the keratogenous zone.
messages: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
messages: Interacts with hair keratins.
messages: The sequence shown is that of allele KAP1.3.

9606:ADCK5
gene id: 9606:ADCK5
uniprot id: Q3MIX3
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the protein kinase superfamily. ADCK protein kinase family.
messages: Membrane
messages: The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).

9606:SCAF1
gene id: 9606:SCAF1
uniprot id: Q9H7N4
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the splicing factor SR family.
messages: Interacts with POLR2A.
messages: May function in pre-mRNA splicing.
messages: Nucleus
messages: Ubiquitous. Highly expressed in fetal brain and liver, poorly expressed in salivary gland, heart, skin and ovary. Expressed in colorectal carcinomas and ovarian cancers. Overexpressed in colorectal carcinomas as compared to normal colonic mucosa.
messages: Up-regulated by estrogens, androgens and glucocorticoids.

9606:TANGO6
gene id: 9606:TANGO6
uniprot id: B3KTB6
uniprot id: Q9C0B7
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the Tango6 family.
messages: Membrane

9606:B3GNT7
gene id: 9606:B3GNT7
uniprot id: Q8NFL0
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the glycosyltransferase 31 family.
messages: Expressed in corneal epithelial cells.
messages: Golgi apparatus membrane
messages: N-acetyl glucosamine (GlcNAc) transferase that catalyzes the transfer of GlcNAc via a beta1->3 linkage from UDP-GlcNAc to the non-reducing terminal galactose (Gal) in the linearly growing chain of N- and O-linked keratan sulfate proteoglycans. Cooperates with B4GALT4 galactosyltransferase and CHST6 and CHST1 sulfotransferases to construct and elongate mono- and disulfated disaccharide units [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] and [->3(6-sulfoGalbeta)1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer (PubMed:14706853, PubMed:17690104). Involved in biosynthesis of N-linked keratan sulfate proteoglycans in cornea, with an impact on proteoglycan fibril organization and corneal transparency (PubMed:17690104) (By similarity). May play a role in the maintenance of tissue architecture by suppressing cellular motility and invasion (By similarity).

9606:NDOR1
gene id: 9606:NDOR1
uniprot id: Q9UHB4
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Belongs to the NADPH-dependent diflavin oxidoreductase NDOR1 family.
messages: In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
messages: In the N-terminal section; belongs to the flavodoxin family.
messages: Interacts with CIAPIN1; as part of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery (By similarity) (PubMed:20802492, PubMed:23596212). Interacts with DCPS (PubMed:16140270).
messages: Low expression in brain, heart, kidney, pancreas, prostate and skeletal muscle. Highest levels in the placenta. Expressed in cancer cell lines including promyelocytic leukemia, HeLaS3, chronic myelagenous leukemia, lymphoblastic leukemia, Burkitt's lymphoma, colorectal adenocarcinoma, lung carcinoma, and melanoma G-361.
messages: NADPH-dependent reductase which is a central component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery (PubMed:10625700, PubMed:28648056, PubMed:23596212, PubMed:20802492, PubMed:15900210). Transfers electrons from NADPH via its FAD and FMN prosthetic groups to the [2Fe-2S] cluster of CIAPIN1, another key component of the CIA machinery (PubMed:28648056, PubMed:23596212, PubMed:20802492). In turn, this reduced cluster provides electrons for assembly of cytosolic iron-sulfur cluster proteins (PubMed:23596212, PubMed:20802492). It can also reduce the [2Fe-2S] cluster of CISD1 and activate this protein implicated in Fe/S cluster repair (PubMed:28648056). In vitro can fully activate methionine synthase/MTR in the presence of soluble cytochrome b5/CYB5A (PubMed:12871938).
messages: perinuclear region

9606:CLSTN1
gene id: 9606:CLSTN1
uniprot id: B4E3Q1
uniprot id: O94985
names: Domain
names: Function
names: PTM
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Cell membrane
messages: Directly interacts with APBA2. Forms a tripartite complex with APBA2 and APP. The CTF1 chain interacts with PSEN1. The intracellular fragment AlcICD interacts with APBB1; this interaction stabilizes AlcICD metabolism. Interacts with KLC1 and APBB1 (By similarity).
messages: Endoplasmic reticulum membrane
messages: Expressed in the brain and, a lower level, in the heart, skeletal muscle, kidney and placenta. Accumulates in dystrophic neurites around the amyloid core of Alzheimer disease senile plaques (at protein level).
messages: Golgi apparatus membrane
messages: Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (By similarity).
messages: Membrane
messages: Nucleus
messages: Postsynaptic cell membrane
messages: Proteolytically processed under normal cellular conditions. A primary zeta-cleavage generates a large extracellular (soluble) N-terminal domain (sAlc) and a short C-terminal transmembrane fragment (CTF1). A secondary cleavage catalyzed by presenilin gamma-secretase within the transmembrane domain releases the beta-Alc-alpha chain in the extracellular milieu and produces an intracellular fragment (AlcICD). This processing is strongly suppressed in the tripartite complex formed with APBA2 and APP, which seems to prevent the association with PSEN1.
messages: The cytoplasmic domain is involved in interaction with APBA2, as well as the binding of synaptic Ca(2+).
messages: neuron projection

9606:SYCE2
gene id: 9606:SYCE2
uniprot id: Q6PIF2
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the SYCE family.
messages: Chromosome
messages: Homodimer. Found in a complex with SYCP1 and SYCE1. Interacts with SYCP1, SYCE1 and SYCE3 (By similarity). Interacts with TEX12 (By similarity).
messages: Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity).
messages: Nucleus

9606:CEP170B
gene id: 9606:CEP170B
uniprot id: Q9Y4F5
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the CEP170 family.
messages: Plays a role in microtubule organization.
messages: cytoskeleton

9606:DNAJB9
gene id: 9606:DNAJB9
uniprot id: Q9UBS3
names: Domain
names: Function
names: Subcellular Location Annotation
names: Subunit
names: Tissue Specificity
messages: Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (By similarity). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins (PubMed:18400946). In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1 (By similarity). Also involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Required for survival of B-cell progenitors and normal antibody production (By similarity).
messages: Endoplasmic reticulum lumen
messages: Interacts with HSPA5/BiP; interaction is direct (By similarity). Interacts with ERN1/IRE1 (via the luminal region) (By similarity). Interacts with DERL1 (By similarity).
messages: The J domain stimulates the ATPase activity of HSPA5/BiP, while the divergent targeting domain is required for efficient substrate recognition by HSPA5/BiP. The divergent targeting domain specifically recognizes and binds to aggregation-prone sequences.
messages: Widely expressed. Expressed at highest level in the liver, placenta and kidney (PubMed:11836248).

9606:TMEM176B
gene id: 9606:TMEM176B
uniprot id: A0A090N7V7
uniprot id: Q3YBM2
names: Caution
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the TMEM176 family.
messages: Expressed in lung and dermal fibroblasts.
messages: May play a role in the process of maturation of dendritic cells. Required for the development of cerebellar granule cells (By similarity).
messages: Nucleus membrane
messages: The sequence shown here is derived from an EMBL/GenBank/DDBJ whole genome shotgun (WGS) entry which is preliminary data.
messages: Up-regulated in fibrotic lung. Down-regulated in activated dendritic cells.

9606:ZNF229
gene id: 9606:ZNF229
uniprot id: Q9UJW7
names: Function
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the krueppel C2H2-type zinc-finger protein family.
messages: May be involved in transcriptional regulation.
messages: Nucleus

9606:GREB1
gene id: 9606:GREB1
uniprot id: Q4ZG55
names: Function
names: Induction
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the GREB1 family.
messages: Estrogen-responsive; regulated by estrogen receptors. Regulated by androgens. The regulatory region of the gene contains 3 estrogen-responsive elements.
messages: Expressed in proliferating prostatic tissue and prostate cancer.
messages: May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers.
messages: Membrane

9606:SPANXN5
gene id: 9606:SPANXN5
uniprot id: Q5MJ07
names: Similarity
messages: Belongs to the SPAN-X family.

9606:POP4
gene id: 9606:POP4
uniprot id: O95707
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the eukaryotic/archaeal RNase P protein component 1 family.
messages: Component of nuclear RNase P and RNase MRP ribonucleoproteins (PubMed:10024167, PubMed:10352175, PubMed:30454648). RNase P consists of a catalytic RNA moiety and 10 different protein chains; POP1, POP4, POP5, POP7, RPP14, RPP21, RPP25, RPP30, RPP38 and RPP40 (PubMed:16723659, PubMed:30454648). Within the RNase P complex, POP1, POP7 and RPP25 form the 'finger' subcomplex, POP5, RPP14, RPP40 and homodimeric RPP30 form the 'palm' subcomplex, and RPP21, POP4 and RPP38 form the 'wrist' subcomplex. All subunits of the RNase P complex interact with the catalytic RNA (PubMed:30454648). Several subunits of RNase P are also part of the RNase MRP complex. RNase MRP consists of a catalytic RNA moiety and about 8 protein subunits; POP1, POP7, RPP25, RPP30, RPP38, RPP40 and possibly also POP4 and POP5 (PubMed:15096576).
messages: Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends.
messages: nucleolus

9606:EIF4A1
gene id: 9606:EIF4A1
uniprot id: P60842
names: Activity Regulation
names: Function
names: Similarity
names: Subunit
messages: (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein UL69.
messages: ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon.
messages: Belongs to the DEAD box helicase family. eIF4A subfamily.
messages: Helicase activity and function in translation are inhibited by interaction with PDCD4.
messages: eIF4F is a multi-subunit complex, the composition of which varies with external and internal environmental conditions. It is composed of at least EIF4A, EIF4E and EIF4G1/EIF4G3. Interacts with PAIP1, EIF4E and UPF2. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. May interact with NOM1. Interacts with PDCD4; this interferes with the interaction between EIF4A and EIF4G. Interacts with RBM4. Interacts with DDX3X in an RNA-independent manner (PubMed:18596238).

9606:SHISA4
gene id: 9606:SHISA4
uniprot id: Q96DD7
names: Similarity
names: Subcellular Location Annotation
messages: Belongs to the shisa family.
messages: Membrane

9606:SLC17A3
gene id: 9606:SLC17A3
uniprot id: A0A024QZX7
uniprot id: O00476
names: Function
names: Polymorphism
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
messages: Cell membrane
messages: Endoplasmic reticulum membrane
messages: Expressed in the liver and kidney (PubMed:9149941, PubMed:20810651). It is detected in proximal tubules in renal cortex as well as some tubules and glomeruli, with highest expression at the apical side of proximal tubules (at protein level) (PubMed:20810651).
messages: Genetic variations in SLC17A3 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 4 (UAQTL4) [MIM:612671]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia.
messages: Membrane
messages: Transports organic anions in a voltage-driven, multispecific, manner, on the apical side of renal proximal tubule (PubMed:20810651). In particular, participates in the secretion of urate from the cell into the lumen (PubMed:20810651). Urate is the end product of purine metabolism (PubMed:20810651). May have roles in the metabolism and secretion of estrone sulfate, estradiol-17-beta-glucuronide, ochratoxin A, as wells as drugs such as bumetanide (PubMed:20810651).

9606:FABP7
gene id: 9606:FABP7
uniprot id: A0A077H155
uniprot id: O15540
uniprot id: Q59HE4
names: Domain
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Tissue Specificity
messages: B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers (By similarity).
messages: Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
messages: Cytoplasm
messages: Expressed in brain and other neural tissues.
messages: Forms a beta-barrel structure that accommodates the hydrophobic ligand in its interior.

9606:PJA1
gene id: 9606:PJA1
uniprot id: Q8NG27
names: Domain
names: Function
names: Miscellaneous
names: PTM
names: Subunit
names: Tissue Specificity
messages: Binds ubiquitin-conjugating enzymes (E2s). In vitro, interacts with the ubiquitin-conjugating enzyme, UBE2D2.
messages: Expressed in various regions of the brain including the cerebellum, cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe and putamen. Highest levels in the cerebral cortex.
messages: Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting.
messages: PubMed:12036302 reported that isoform 2 arises by alternative initiation.
messages: Substrate for E2-dependent ubiquitination.
messages: The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.

9606:FARS2
gene id: 9606:FARS2
uniprot id: O95363
names: Disease Annotation
names: Function
names: Similarity
names: Subcellular Location Annotation
names: Subunit
messages: Belongs to the class-II aminoacyl-tRNA synthetase family.
messages: Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.
messages: Mitochondrion
messages: Mitochondrion matrix
messages: Monomer.
messages: The disease is caused by variants affecting the gene represented in this entry.