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| M6PR | Cation-dependent mannose-6-phosphate receptor; 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; MRH domain containing (277 aa) | |||
| CFTR | Cystic fibrosis transmembrane conductance regulator; 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. Plays an important role in airway fluid homeostasis. Contributes to the regulation of the pH [...] (1480 aa) | |||
| DVL2 | Segment polarity protein dishevelled homolog DVL-2; Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C- terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling; Belongs to the DSH family (736 aa) | |||
| CD4 | T-cell surface glycoprotein CD4; 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 II molecule-peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kina [...] (458 aa) | |||
| SCTR | Secretin receptor; This is a receptor for secretin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase; Glucagon receptor family (440 aa) | |||
| VAMP3 | Vesicle-associated membrane protein 3; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network; Belongs to the synaptobrevin family (100 aa) | |||
| UTS2 | Urotensin 2; Endogenous ligands (139 aa) | |||
| GNA11 | Guanine nucleotide-binding protein subunit alpha-11; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C; G protein subunits alpha, group q (359 aa) | |||
| P2RY10 | Putative P2Y purinoceptor 10; Putative receptor for purines coupled to G-proteins (339 aa) | |||
| NAGLU | Alpha-N-acetylglucosaminidase; Involved in the degradation of heparan sulfate (743 aa) | |||
| DLX2 | Homeobox protein DLX-2; Acts as a transcriptional activator. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis; NKL subclass homeoboxes and pseudogenes (328 aa) | |||
| TXNDC17 | Thioredoxin domain-containing protein 17; Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide; Belongs to the thioredoxin family (123 aa) | |||
| ARSB | Arylsulfatase B; Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation. Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium. In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity); Belongs to the sulfatase family (533 aa) | |||
| FBXW11 | F-box/WD repeat-containing protein 11; 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. Probably recognizes and binds to phosphorylated target proteins. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signaling. SCF(FBXW11) mediates the ubiquitination of phosphorylated NFKBIA, which degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. SCF(FBXW11) media [...] (542 aa) | |||
| BDH2 | 3-hydroxybutyrate dehydrogenase type 2; Dehydrogenase that mediates the formation of 2,5- dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role in iron homeostasis and transport. Also acts as a 3-hydroxybutyrate dehydrogenase (By similarity); Short chain dehydrogenase/reductase superfamily (245 aa) | |||
| AVPR1A | Vasopressin V1a receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment (418 aa) | |||
| B4GALT6 | Beta-1,4-galactosyltransferase 6; Required for the biosynthesis of glycosphingolipids; Beta 4-glycosyltransferases (382 aa) | |||
| STAT2 | Signal transducer and activator of transcription 2; Signal transducer and activator of transcription that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize, associate with IRF9/ISGF3G to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive [...] (851 aa) | |||
| OXTR | Oxytocin receptor; Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol- calcium second messenger system; Arginine vasopressin and oxytocin receptors (389 aa) | |||
| AVPR2 | Vasopressin V2 receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily (371 aa) | |||
| AVPR1B | Vasopressin V1b receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system; Arginine vasopressin and oxytocin receptors (424 aa) | |||
| HTRA1 | Serine protease HTRA1; Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signa [...] (480 aa) | |||
| CHST3 | Carbohydrate sulfotransferase 3; 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. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N- acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of [...] (479 aa) | |||
| AVP | Vasopressin-neurophysin 2-copeptin; Neurophysin 2 specifically binds vasopressin; Endogenous ligands (164 aa) | |||
| CRYAB | Alpha-crystallin B chain; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions; Small heat shock proteins (175 aa) | |||
| KMT2A | Histone-lysine N-methyltransferase 2A; Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of ’Lys-4’ of histone H3 (H3K4me) complex and acetylation of ’Lys-16’ of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no [...] (3972 aa) | |||
