CYP2R1

From Wikipedia, the free encyclopedia

Cytochrome P450, family 2, subfamily R, polypeptide 1

PDB rendering based on 2ojd.

Available structures: 2ojd

Identifiers

Symbol(s)

CYP2R1; MGC4663

External IDs

OMIM: 608713 MGI: 2449771 HomoloGene: 75210

Gene ontology
Molecular Function:	• monooxygenase activity • iron ion binding • heme binding • vitamin D3 25-hydroxylase activity • metal ion binding
Cellular Component:	• endoplasmic reticulum • microsome • membrane
Biological Process:	• electron transport • vitamin D metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_024514 (mRNA)
NP_078790 (protein)

NM_177382 (mRNA)
NP_796356 (protein)

Location

Chr 11: 14.86 - 14.87 Mb

Chr 7: 114.34 - 114.35 Mb

Pubmed search

[1]

[2]

Cytochrome P450, family 2, subfamily R, polypeptide 1, also known as CYP2R1, is a human gene.^[1]

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 enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency.^[1]

[edit] References

^ ^a ^b Entrez Gene: CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1.

[edit] Further reading

Ramos-Lopez E, Brück P, Jansen T, et al. (2008). "CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans.". Diabetes Metab. Res. Rev. 23 (8): 631-6. doi:10.1002/dmrr.719. PMID 17607662.
Ramos-Lopez E, Brück P, Jansen T, et al. (2007). "CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients.". J. Steroid Biochem. Mol. Biol. 103 (3-5): 807-10. doi:10.1016/j.jsbmb.2006.12.056. PMID 17223345.
Wjst M, Altmüller J, Faus-Kessler T, et al. (2006). "Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.". Respir. Res. 7: 60. doi:10.1186/1465-9921-7-60. PMID 16600026.
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. PMID 15489334.
Shinkyo R, Sakaki T, Kamakura M, et al. (2004). "Metabolism of vitamin D by human microsomal CYP2R1.". Biochem. Biophys. Res. Commun. 324 (1): 451-7. doi:10.1016/j.bbrc.2004.09.073. PMID 15465040.
Cheng JB, Levine MA, Bell NH, et al. (2004). "Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.". Proc. Natl. Acad. Sci. U.S.A. 101 (20): 7711-5. doi:10.1073/pnas.0402490101. PMID 15128933.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Cheng JB, Motola DL, Mangelsdorf DJ, Russell DW (2003). "De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase.". J. Biol. Chem. 278 (39): 38084-93. doi:10.1074/jbc.M307028200. PMID 12867411.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. PMID 12477932.
Nelson DR (2003). "Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution.". Arch. Biochem. Biophys. 409 (1): 18-24. PMID 12464240.