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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) | |||
PGRMC1 | progesterone receptor membrane component 1; Receptor for progesterone (By similarity) (195 aa) | |||
DNAJC17 | DnaJ (Hsp40) homolog, subfamily C, member 17 (304 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) | |||
CAD | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase; This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase) (2225 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) | |||
TP53 | tumor protein p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression (By similarity) (393 aa) | |||
LBR | lamin B receptor; Anchors the lamina and the heterochromatin to the inner nuclear membrane (615 aa) | |||
SIGMAR1 | sigma non-opioid intracellular receptor 1 (223 aa) | |||
TM7SF2 | transmembrane 7 superfamily member 2; Involved in the conversion of lanosterol to cholesterol (418 aa) | |||
SDR42E2 | short chain dehydrogenase/reductase family 42E, member 2 (155 aa) | |||
COQ6 | coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (468 aa) | |||
UBC | ubiquitin C (685 aa) | |||
DHCR7 | 7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC) (475 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) | |||
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) | |||
NENF | neudesin neurotrophic factor; Displays neurotrophic activity and activates phosphorylation of MAPK1/ERK2, MAPK3/ERK1 and AKT1/AKT in primary cultured neurons. Does not have mitogenic activity in primary cultured astrocytes. May play a role on neuronal differentiation and may have a transient effect on neural cell proliferation in neural precursor cells. Neurotrophic activity is enhanced by binding to heme (By similarity) (172 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) | |||
UXS1 | UDP-glucuronate decarboxylase 1; Catalyzes the NAD-dependent decarboxylation of UDP- glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis (420 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) | |||
PGRMC2 | progesterone receptor membrane component 2; Receptor for steroids (Potential) (247 aa) | |||
VDR | vitamin D (1,25- dihydroxyvitamin D3) receptor; Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by controlling the expression of hormone sensitive genes. Regulates transcription of hormone sensitive genes via its association with the WINAC complex, a chromatin-remodeling complex. Recruited to promoters via its interaction with the WINAC complex subunit BAZ1B/WSTF, which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis (477 aa) |