CYP8B1
| CYP8B1 | |||
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Gene ontology | |||
| Molecular function |
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| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 3: 42.86 – 42.88 Mb | Chr 9: 121.74 – 121.75 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
CYP8B1 (cytochrome P450, family 8, subfamily B, polypeptide 1) also known as sterol 12-alpha-hydroxylase is a protein which in humans is encoded by the CYP8B1 gene.[5]
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids.
CYP8B1 is an
CYP8B1 is unique among the cytochrome P450 genes in that it is intronless.[6]
The elephant, manatee and naked mole rat have inactive copies of this gene and lack cholic acid in their bile.[7] Relaxed selection resulting from changes in diet to consume less lipids might have contributed to the loss of this gene in several species.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000180432 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050445 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 10051404.
- ^
This article incorporates public domain material from "Entrez Gene: CYP8B1". Reference Sequence collection. National Center for Biotechnology Information.
- PMID 30388264.
- S2CID 199380339.
Further reading
- Li Y, Mezei O, Shay NF (2007). "Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones". J. Nutr. 137 (7): 1705–12. PMID 17585019.
- Yang Y, Eggertsen G, Gåffvels M, et al. (2004). "Mechanisms of cholesterol and sterol regulatory element binding protein regulation of the sterol 12alpha-hydroxylase gene (CYP8B1)". Biochem. Biophys. Res. Commun. 320 (4): 1204–10. PMID 15249218.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Ellis EC (2006). "Suppression of bile acid synthesis by thyroid hormone in primary human hepatocytes". World J. Gastroenterol. 12 (29): 4640–5. PMID 16937432.
- Wang J, Greene S, Eriksson LC, et al. (2005). "Human sterol 12a-hydroxylase (CYP8B1) is mainly expressed in hepatocytes in a homogenous pattern". Histochem. Cell Biol. 123 (4–5): 441–6. S2CID 12069227.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Nelson DR, Zeldin DC, Hoffman SM, et al. (2004). "Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants". Pharmacogenetics. 14 (1): 1–18. PMID 15128046.
- Ross CJ, Katzov-Eckert H, Dubé MP, et al. (2009). "Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy". Nat. Genet. 41 (12): 1345–9. S2CID 21293339.
- Lu Y, Dollé ME, Imholz S, et al. (2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". J. Lipid Res. 49 (12): 2582–9. PMID 18660489.
- Zhang M, Chiang JY (2001). "Transcriptional regulation of the human sterol 12alpha-hydroxylase gene (CYP8B1): roles of heaptocyte nuclear factor 4alpha in mediating bile acid repression". J. Biol. Chem. 276 (45): 41690–9. PMID 11535594.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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