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| PRPF19 | Pre-mRNA-processing factor 19; Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates ’Lys-63’-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex. Recruite [...] (504 aa) | |||
| HEATR5B | HEAT repeat-containing protein 5B; Armadillo-like helical domain containing (2071 aa) | |||
| HSD17B7 | 3-keto-steroid reductase; Responsible for the reduction of the keto group on the C-3 of sterols; Short chain dehydrogenase/reductase superfamily (341 aa) | |||
| C14orf1 | Probable ergosterol biosynthetic protein 28; Chromosome 14 open reading frame 1; Belongs to the ERG28 family (140 aa) | |||
| MSMO1 | Methylsterol monooxygenase 1; Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol; Belongs to the sterol desaturase family (293 aa) | |||
| SC5D | Lathosterol oxidase; Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol; Belongs to the sterol desaturase family (299 aa) | |||
| SIGMAR1 | Sigma non-opioid intracellular receptor 1; Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. [...] (223 aa) | |||
| TM7SF2 | Delta(14)-sterol reductase; Involved in the conversion of lanosterol to cholesterol (418 aa) | |||
| HSD3B7 | 3 beta-hydroxysteroid dehydrogenase type 7; The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis. Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7- alpha,25-OHC)- 7-alpha,25-OHC acts as a ligand for the G protein- coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymp [...] (369 aa) | |||
| HNF4A | Hepatocyte nuclear factor 4-alpha; Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1- antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1- alpha. May be essential for development of the liver, kidney and intestine; Nuclear hormone receptors (474 aa) | |||
| CYP8B1 | 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase; Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha- hydroxylated C27 steroids; Cytochrome P450 family 8 (501 aa) | |||
| FAXDC2 | Fatty acid hydroxylase domain containing 2; Belongs to the sterol desaturase family (333 aa) | |||
| MAT2B | Methionine adenosyltransferase 2 subunit beta; Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L- methionine. Can bind NADP (in vitro); Short chain dehydrogenase/reductase superfamily (334 aa) | |||
| SDR42E1 | Short chain dehydrogenase/reductase family 42E, member 1 (393 aa) | |||
| LBR | Lamin-B receptor; Anchors the lamina and the heterochromatin to the inner nuclear membrane; Tudor domain containing (615 aa) | |||
| AGMO | Alkylglycerol monooxygenase; Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes; Fatty acid hydroxylase domain containing (445 aa) | |||
| DHCR7 | 7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC); Belongs to the ERG4/ERG24 family (475 aa) | |||
| R3HDM4 | R3H domain containing 4 (268 aa) | |||
| HSD3B1 | 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1; 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17- alpha-hydroxyprogesterone, DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to [...] (373 aa) | |||
| NSDHL | Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis; Short chain dehydrogenase/reductase superfamily (373 aa) | |||
| TACSTD2 | Tumor-associated calcium signal transducer 2; May function as a growth factor receptor; Belongs to the EPCAM family (323 aa) | |||
| CH25H | Cholesterol 25-hydroxylase; Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. Plays a key role in cell positioning and movement in lymphoid tissues- 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element [...] (272 aa) | |||
| LSS | Lanosterol synthase; Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency; Belongs to the terpene cyclase/mutase family (732 aa) | |||
| HSD3B2 | 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids; Short chain dehydrogenase/reductase superfamily (372 aa) | |||
| SDR42E2 | Short chain dehydrogenase/reductase family 42E, member 2; Belongs to the 3-beta-HSD family (422 aa) | |||
| FDFT1 | Squalene synthase; Farnesyl-diphosphate farnesyltransferase 1 (417 aa) | |||
