CYP39A1

Protein-coding gene in the species Homo sapiens

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]
Band	6p12.3	End	46,652,830 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 17 (mouse)^[2]

Band	17\|17 B3	Start	43,978,316 bp^[2]
Band	17\|17 B3	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

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.