CYP39A1

CYP39A1
Identifiers
Aliases	CYP39A1, cytochrome P450 family 39 subfamily A member 1
External IDs	OMIM: 605994; MGI: 1927096; HomoloGene: 9580; GeneCards: CYP39A1; OMA:CYP39A1 - orthologs
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 43,978,316 bp[2] End 44,062,322 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland right lobe of liver gastric mucosa skin of abdomen testicle hair follicle gonad Epithelium of choroid plexus corpus epididymis skin of leg Top expressed in sciatic nerve vestibular sensory epithelium zygote vestibular membrane of cochlear duct lacrimal gland ventricular zone secondary oocyte respiratory epithelium olfactory epithelium tail of embryo More reference expression data BioGPS n/a
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 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: 43.98 – 44.06 Mb PubMed search [3] [4]
Wikidata
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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]

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.  This article incorporates public domain material from "Entrez Gene: CYP39A1". Reference Sequence collection. National Center for Biotechnology Information.

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. Bibcode:2002PNAS...9916899M. 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.