CYP39A1

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.[5]

CYP39A1
Identifiers
Aliases	CYP39A1, cytochrome P450 family 39 subfamily A member 1
External IDs	OMIM: 605994 MGI: 1927096 HomoloGene: 9580 GeneCards: CYP39A1
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p12.3 Start 46,549,580 bp[1] End 46,652,830 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 B3 Start 43,667,425 bp[2] End 43,751,431 bp[2]
Gene ontology Molecular function • iron ion binding • metal ion binding • monooxygenase activity • steroid 7-alpha-hydroxylase activity • heme binding • oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen • oxidoreductase activity • oxysterol 7-alpha-hydroxylase activity Cellular component • organelle membrane • endoplasmic reticulum membrane • intracellular membrane-bounded organelle • membrane • endoplasmic reticulum Biological process • steroid metabolic process • lipid metabolism • digestion • bile acid catabolic process • cholesterol catabolic process • lipid catabolic process • sterol metabolic process • bile acid biosynthetic process • oxidation-reduction process • cholesterol homeostasis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	51302	56050
Ensembl	ENSG00000146233	ENSMUSG00000023963
UniProt	Q9NYL5	Q9JKJ9
RefSeq (mRNA)	NM_001278738 NM_001278739 NM_016593	NM_001285947 NM_001285948 NM_018887
RefSeq (protein)	NP_001265667 NP_001265668 NP_057677	NP_001272876 NP_001272877 NP_061375
Location (UCSC)	Chr 6: 46.55 – 46.65 Mb	Chr 17: 43.67 – 43.75 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000146233 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023963 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: CYP39A1".

External links

• Human CYP39A1 genome location and CYP39A1 gene details page in the UCSC Genome Browser.

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. S2CID 25064683.
• 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.