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)
End	46,652,830 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	44,062,322 bp
RNA expression pattern
	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
	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
	51302
	56050
	ENSG00000146233
	ENSMUSG00000023963
	Q9NYL5
	Q9JKJ9
	NM_001278738; NM_001278739; NM_016593
	NM_001285947; NM_001285948; NM_018887
	NP_001265667; NP_001265668; NP_057677
	NP_001272876; NP_001272877; NP_061375
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000146233 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000023963 – 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.
^ 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.
^ 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.

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.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000146233 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10748047-5] 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.

[entrez_2532-6] This article incorporates public domain material from "Entrez Gene: CYP39A1". Reference Sequence collection. National Center for Biotechnology Information.

[5]

[1]

[2]

[3]

[4]

[6]

CYP39A1

References

External links

Further reading