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| CYP51A1 | Lanosterol 14-alpha demethylase; Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4’-dimethyl cholesta-8,14,24-triene-3-beta-ol; Cytochrome P450 family 51 (509 aa) | |||
| CCDC115 | Coiled-coil domain-containing protein 115; Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation. May be involved in Golgi homeostasis (180 aa) | |||
| ADAM10 | Disintegrin and metalloproteinase domain-containing protein 10; Cleaves the membrane-bound precursor of TNF-alpha at ’76-Ala-|-Val-77’ to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP). Contributes to the normal cleavage of the cellular prion protein. Involved in the cle [...] (748 aa) | |||
| SC5D | Lathosterol oxidase; Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol; Belongs to the sterol desaturase family (299 aa) | |||
| GPM6A | Neuronal membrane glycoprotein M6-a; Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G- protein-coupled receptors (GPCRs); enhances internalization and r [...] (278 aa) | |||
| DGKE | Diacylglycerol kinase epsilon; Highly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid composition (567 aa) | |||
| TSPAN17 | Tetraspanin-17; Regulates ADAM10 maturation; Belongs to the tetraspanin (TM4SF) family (332 aa) | |||
| ADAM17 | Disintegrin and metalloproteinase domain-containing protein 17; Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. 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. Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membra [...] (824 aa) | |||
| GPR89A | G protein-coupled receptor 89A; Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance; Belongs to the Golgi pH regulator (TC 1.A.38) family (455 aa) | |||
| THEM6 | Protein THEM6; Thioesterase superfamily member 6 (208 aa) | |||
| IGSF8 | Immunoglobulin superfamily member 8; May play a key role in diverse functions ascribed to CD81 and CD9 such as oocytes fertilization or hepatitis C virus function. May regulate proliferation and differentiation of keratinocytes. May be a negative regulator of cell motility- suppresses T-cell mobility coordinately with CD81, associates with CD82 to suppress prostate cancer cell migration, regulates epidermoid cell reaggregation and motility on laminin-5 with CD9 and CD81 as key linkers. May also play a role on integrin- dependent morphology and motility functions. May participate in the [...] (613 aa) | |||
| FAM210B | Protein FAM210B, mitochondrial; Plays a role in erythroid differentiation. Involved in cell proliferation and tumor cell growth suppression. Involved in the metabolic reprogramming of cancer cells in a PDK4-dependent manner; Belongs to the FAM210 family (192 aa) | |||
| GPR3 | G-protein coupled receptor 3; Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Has a potential role in modulating a number of brain functions, including behavioral responses to stress (By similarity), amyloid-beta peptide generation in neurons and neurite outgrowth (By similarity). Maintains also meiotic arrest in oocytes (By similarity); G protein-coupled receptors, Class A orphans (330 aa) | |||
| SLC44A1 | Choline transporter-like protein 1; Choline transporter. May be involved in membrane synthesis and myelin production; Belongs to the CTL (choline transporter-like) family (657 aa) | |||
| SGCB | Beta-sarcoglycan; 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 (318 aa) | |||
| AGPAT3 | 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma; Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C16-0-C20-4 at the sn-1 position using C18-1, C20-4 or C18-2-CoA as the acyl donor. Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18-1 or C20-4-CoA. Has a preference for arachidonoyl-CoA as a donor. Has also a modest lysophosphatidylinositol acyltransferase (LPIAT) activity, converts lys [...] (376 aa) | |||
| PNPLA6 | Neuropathy target esterase; Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy; Patatin like phospholipase domain containing (1375 aa) | |||
| METTL7A | Methyltransferase-like protein 7A; Probable methyltransferase (244 aa) | |||
| ENSG00000259680 | Uncharacterized protein (116 aa) | |||
| IGHV4-38-2 | Immunoglobulin heavy variable 4-38-2; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whi [...] (117 aa) | |||
| IGHV3-11 | Immunoglobulin heavy variable 3-11; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which [...] (96 aa) | |||
| ENSG00000278782 | annotation not available (95 aa) | |||
| IGHV3-15 | Immunoglobulin heavy variable 3-15; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which [...] (112 aa) | |||
| EPHX1 | Epoxide hydrolase 1; 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). May play a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (455 aa) | |||
| IGHV3-43D | Immunoglobulin heavy variable 3-43D; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whic [...] (98 aa) | |||
| AGPAT9 | Glycerol-3-phosphate acyltransferase 3; May transfer the acyl-group from acyl-coA to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Also transfers the acyl-group from acyl-coA to the sn-2 position of 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid, or LPA), forming 1,2-diacyl-sn-glycerol-3- phosphate (phosphatidic acid, or PA) (434 aa) | |||
