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CYP24A1 | cytochrome P450, family 24, subfamily A, polypeptide 1; Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23- hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product (514 aa) | |||
FDFT1 | farnesyl-diphosphate farnesyltransferase 1 (417 aa) | |||
PRPF19 | PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae); Plays a role in DNA double-strand break (DSB) repair. Binds double-stranded DNA in a sequence-nonspecific manner. Acts as a structural component of the nuclear framework. May also serve as a support for spliceosome binding and activity. Essential for spliceosome assembly in a oligomerization-dependent manner and might also be important for spliceosome stability. May have E3 ubiquitin ligase activity. The PSO4 complex is required in the DNA interstrand cross-links (ICLs) repair process. Component of the PRP19-CDC5L comple [...] (504 aa) | |||
CYP27B1 | cytochrome P450, family 27, subfamily B, polypeptide 1; Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation (508 aa) | |||
HSD17B7 | hydroxysteroid (17-beta) dehydrogenase 7; Responsible for the reduction of the keto group on the C-3 of sterols (341 aa) | |||
C14orf1 | chromosome 14 open reading frame 1 (140 aa) | |||
SQLE | squalene epoxidase; Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the rate-limiting enzymes in this pathway (574 aa) | |||
SIGMAR1 | sigma non-opioid intracellular receptor 1 (223 aa) | |||
DIP2C | DIP2 disco-interacting protein 2 homolog C (Drosophila) (1556 aa) | |||
ACSF2 | acyl-CoA synthetase family member 2; Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipodyte differentiation (615 aa) | |||
DIP2B | DIP2 disco-interacting protein 2 homolog B (Drosophila) (1576 aa) | |||
CHDH | choline dehydrogenase (594 aa) | |||
ACSF3 | acyl-CoA synthetase family member 3; Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates (576 aa) | |||
COQ6 | coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (468 aa) | |||
CYP2R1 | cytochrome P450, family 2, subfamily R, polypeptide 1; Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3) (501 aa) | |||
CDK5RAP3 | CDK5 regulatory subunit associated protein 3; Potential regulator of CDK5 activity. May be involved in cell proliferation. Regulates CDK5 activity via its interaction with CDK5R1 (By similarity) (506 aa) | |||
LSS | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase); Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (732 aa) | |||
HLA-G | major histocompatibility complex, class I, G; Involved in the presentation of foreign antigens to the immune system. Plays a role in maternal tolerance of the fetus by mediating protection from the deleterious effects of natural killer cells, cytotoxic T-lymphocytes, macrophages and mononuclear cells (338 aa) | |||
KMO | kynurenine 3-monooxygenase (kynurenine 3-hydroxylase); 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 (By similarity) (486 aa) | |||
MR1 | major histocompatibility complex, class I-related (341 aa) | |||
HLA-C | major histocompatibility complex, class I, C; Involved in the presentation of foreign antigens to the immune system (By similarity) (366 aa) | |||
NDUFAF6 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; Involved in the assembly of mitochondrial NADH-ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1 (333 aa) | |||
CITED1 | Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1; Transcriptional coactivator of the p300/CBP-mediated trancription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with t [...] (219 aa) | |||
DIP2A | DIP2 disco-interacting protein 2 homolog A (Drosophila); May provide positional cues for axon pathfinding and patterning in the central nervous system (1571 aa) | |||
HLA-B | major histocompatibility complex, class I, B; Involved in the presentation of foreign antigens to the immune system (By similarity) (362 aa) | |||
B2M | beta-2-microglobulin; Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system (By similarity) (119 aa) |