CYP27C1

CYP27C1
Identifiers
Aliases	CYP27C1, cytochrome P450 family 27 subfamily C member 1
External IDs	HomoloGene: 70240; GeneCards: CYP27C1; OMA:CYP27C1 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	127,220,313 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; cartilage tissue; ; synovial membrane; ; synovial joint; ; testicle; ; tibia; ; ventricular zone; ; ectocervix; ; skin of leg; ; palpebral conjunctiva;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	iron ion binding; oxidoreductase activity; heme binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; metal ion binding; monooxygenase activity; retinoic acid binding; 11-cis retinal binding; all-trans retinal binding; all-trans-retinol binding; all-trans retinol 3,4-desaturase activity; all-trans retinal 3,4-desaturase activity; all-trans retinoic acid 3,4-desaturase activity; 11-cis-retinal 3,4-desaturase activity;
Cellular component	membrane; cellular component; intracellular membrane-bounded organelle;
Biological process	retinol metabolic process; retinoic acid metabolic process; retinal metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	339761
	n/a
	ENSG00000186684
	n/a
	Q4G0S4
	n/a
	NM_001001665; NM_001367501; NM_001367502
	n/a
	NP_001001665; NP_001354430; NP_001354431
	n/a
	Wikidata
View/Edit Human

CYP27C1 (cytochrome P450, family 27, subfamily C, polypeptide 1) is a protein that in humans is encoded by the CYP27C1 gene.^[3]^[4] The Enzyme Commission number (EC) for this protein is EC 1.14.19.53.^[5] The full accepted name is all-trans-retinol 3,4-desaturase and the EC number 1 classifies CYP27C1 as a oxidoreductase that acts on paired donor by reducing oxygen.^[6] It is also identifiable by the UniProt code Q4G0S4.^[7]^[8]

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.^[9]

The main function of the CYP27C1 enzyme is conversion of vitamin A₁ (all-trans retinol) to vitamin A₂ (all-trans 3,4-dehydroretinal).^[10]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000186684 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, et al. (January 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
^ Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. (October 2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Research. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
^ "EC 1.14.19.53". iubmb.qmul.ac.uk. Archived from the original on 2023-12-11. Retrieved 2023-10-16.
^ "EC 1.14". iubmb.qmul.ac.uk. Archived from the original on 2023-06-01. Retrieved 2023-10-16.
^ "UniProt". www.uniprot.org. Retrieved 2023-10-17.
^ Wenzel U, Kemper C, Köhl J (November 2021). "Canonical and non-canonical functions of the complement system in health and disease". British Journal of Pharmacology. 178 (22): 2751–2753. doi:10.1111/bph.v178.22. ISSN 0007-1188. PMID 34159599.
^ This article incorporates public domain material from "Entrez Gene: CYP27C1". Reference Sequence collection. National Center for Biotechnology Information.
^ Kramlinger VM, Nagy LD, Fujiwara R, Johnson KM, Phan TT, Xiao Y, et al. (May 2016). "Human cytochrome P450 27C1 catalyzes 3,4-desaturation of retinoids". FEBS Letters. 590 (9): 1304–1312. doi:10.1002/1873-3468.12167. PMC 4864060. PMID 27059013.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000186684 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid14702039-3] Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, et al. (January 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.

[pmid15489334-4] Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. (October 2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Research. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

[:0-5] "EC 1.14.19.53". iubmb.qmul.ac.uk. Archived from the original on 2023-12-11. Retrieved 2023-10-16.

[6] "EC 1.14". iubmb.qmul.ac.uk. Archived from the original on 2023-06-01. Retrieved 2023-10-16.

[7] "UniProt". www.uniprot.org. Retrieved 2023-10-17.

[8] Wenzel U, Kemper C, Köhl J (November 2021). "Canonical and non-canonical functions of the complement system in health and disease". British Journal of Pharmacology. 178 (22): 2751–2753. doi:10.1111/bph.v178.22. ISSN 0007-1188. PMID 34159599.

[entrez_2532-9] This article incorporates public domain material from "Entrez Gene: CYP27C1". Reference Sequence collection. National Center for Biotechnology Information.

[PMC4864060-10] Kramlinger VM, Nagy LD, Fujiwara R, Johnson KM, Phan TT, Xiao Y, et al. (May 2016). "Human cytochrome P450 27C1 catalyzes 3,4-desaturation of retinoids". FEBS Letters. 590 (9): 1304–1312. doi:10.1002/1873-3468.12167. PMC 4864060. PMID 27059013.

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