CYP39A1

Cytochrome P450, family 39, subfamily A, polypeptide 1
Identifiers
Symbol	CYP39A1
External IDs	OMIM: 605994 MGI: 1927096 HomoloGene: 9580 IUPHAR: 1372 GeneCards: CYP39A1 Gene
EC number	1.14.13.99
Gene ontology Molecular function • iron ion binding • steroid 7-alpha-hydroxylase activity • oxysterol 7-alpha-hydroxylase activity • heme binding • 24-hydroxycholesterol 7alpha-hydroxylase activity Cellular component • endoplasmic reticulum membrane • intracellular membrane-bounded organelle Biological process • bile acid biosynthetic process • cholesterol catabolic process • xenobiotic metabolic process • digestion • bile acid metabolic process • sterol metabolic process • bile acid catabolic process • small molecule metabolic process • oxidation-reduction process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	51302	56050
Ensembl	ENSG00000146233	ENSMUSG00000023963
UniProt	Q9NYL5	Q9JKJ9
RefSeq (mRNA)	NM_001278738	NM_001285947
RefSeq (protein)	NP_001265667	NP_001272876
Location (UCSC)	Chr 6: 46.55 – 46.65 Mb	Chr 17: 43.67 – 43.75 Mb
PubMed search

CYP39A1 (cytochrome P450, family 39, subfamily A, polypeptide 1) also known as oxysterol 7-α-hydroxylase 2 is a protein that in humans is encoded by the CYP39A1 gene.^[1]

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. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 24-hydroxycholesterol, 25-hydroxycholesterol and 27-hydroxycholesterol.^[2]

References

1. Li-Hawkins J, Lund EG, Bronson AD, Russell DW (June 2000). "Expression cloning of an oxysterol 7alpha-hydroxylase selective for 24-hydroxycholesterol". J. Biol. Chem. 275 (22): 16543–9. doi:10.1074/jbc.M001810200. PMID 10748047.
2. "Entrez Gene: CYP39A1".

Further reading

• 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. doi:10.1073/pnas.242603899. PMC 139241. 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. doi:10.1097/00008571-200401000-00001. PMID 15128046.
• Harrington JJ, Sherf B, Rundlett S; et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression.". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013.
• 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. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Fourgeux C, Martine L, Björkhem I; et al. (2009). "Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels.". Invest. Ophthalmol. Vis. Sci. 50 (12): 5712–7. doi:10.1167/iovs.09-3655. PMID 19553612.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.