CYP8B1
| CYP8B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CYP8B1, CP8B, CYP12, cytochrome P450 family 8 subfamily B member 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602172; MGI: 1338044; HomoloGene: 3233; GeneCards: CYP8B1; OMA:CYP8B1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.
Gene
CYP8B1 is unique among the cytochrome P450 genes in that it is intronless.[6]
Function
CYP8B1 is an endoplasmic reticulum membrane protein and catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of the two primary bile acids, cholic acid and chenodeoxycholic acid, both of which are secreted in the bile. In the intestine these bile acids affect the solubility of cholesterol and other lipids, promoting their absorption.
In other species
The elephant, manatee and naked mole rat have inactive copies of this gene and consequently 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.
- ^ Gåfvels M, Olin M, Chowdhary BP, Raudsepp T, Andersson U, Persson B, et al. (March 1999). "Structure and chromosomal assignment of the sterol 12alpha-hydroxylase gene (CYP8B1) in human and mouse: eukaryotic cytochrome P-450 gene devoid of introns". Genomics. 56 (2): 184–196. doi:10.1006/geno.1998.5606. PMID 10051404.
- ^
This article incorporates public domain material from "Entrez Gene: CYP8B1". Reference Sequence collection. National Center for Biotechnology Information.
- ^ Sharma V, Hiller M (1 December 2018). "Loss of Enzymes in the Bile Acid Synthesis Pathway Explains Differences in Bile Composition among Mammals". Genome Biology and Evolution. 10 (12): 3211–3217. doi:10.1093/gbe/evy243. PMC 6296402. PMID 30388264.
- ^ Shinde S, Teekas L, Sharma S, Vijay N (September 2019). "Signatures of Relaxed Selection in the CYP8B1 Gene of Birds and Mammals". Journal of Molecular Evolution. 87 (7–8): 209–220. Bibcode:2019JMolE..87..209S. doi:10.1007/s00239-019-09903-6. PMID 31372666. S2CID 199380339.
Further reading
- Li Y, Mezei O, Shay NF (Jul 2007). "Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones". The Journal of Nutrition. 137 (7): 1705–1712. doi:10.1093/jn/137.7.1705. PMID 17585019.
- Yang Y, Eggertsen G, Gafvels M, Andersson U, Einarsson C, Bjorkhem I, et al. (Aug 2004). "Mechanisms of cholesterol and sterol regulatory element binding protein regulation of the sterol 12alpha-hydroxylase gene (CYP8B1)". Biochemical and Biophysical Research Communications. 320 (4): 1204–1210. Bibcode:2004BBRC..320.1204Y. doi:10.1016/j.bbrc.2004.06.069. PMID 15249218.
- EC E (Aug 2006). "Suppression of bile acid synthesis by thyroid hormone in primary human hepatocytes". World Journal of Gastroenterology. 12 (29): 4640–4645. doi:10.3748/wjg.v12.i29.4640. PMC 4087826. PMID 16937432.
- Wang J, Greene S, Eriksson LC, Rozell B, Reihner E, Einarsson C, et al. (Jun 2005). "Human sterol 12a-hydroxylase (CYP8B1) is mainly expressed in hepatocytes in a homogenous pattern". Histochemistry and Cell Biology. 123 (4–5): 441–446. doi:10.1007/s00418-005-0779-0. PMID 15891895. S2CID 12069227.
- Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM, Nebert DW (Jan 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. doi:10.1097/00008571-200401000-00001. PMID 15128046.
- Ross CJ, Katzov-Eckert H, Dube MP, Brooks B, Rassekh SR, Barhdadi A, et al. (Dec 2009). "Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy". Nature Genetics. 41 (12): 1345–1349. doi:10.1038/ng.478. PMID 19898482. S2CID 21293339.
- Lu Y, Dolle ME, Imholz S, Slot R, Verschuren WM, Wijmenga C, et al. (Dec 2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". Journal of Lipid Research. 49 (12): 2582–2589. doi:10.1194/jlr.M800232-JLR200. PMID 18660489.
- Zhang M, Chiang JY (Nov 2001). "Transcriptional regulation of the human sterol 12alpha-hydroxylase gene (CYP8B1): roles of heaptocyte nuclear factor 4alpha in mediating bile acid repression". Journal of Biological Chemistry. 276 (45): 41690–41699. doi:10.1074/jbc.M105117200. PMID 11535594.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.