CYP2R1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

CYP2R1

Aliases

Entrez Gene ID

120227

Gene Name

Cytochrome P450 family 2 subfamily R member 1

Chromosomal Location

11p15.2

HGNC ID

HGNC:20580

Summary

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. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_007936.1

RefSeq mRNA

NM_024514.4, NM_024514.5, NM_001377214.1, NM_001377215.1, NM_001377216.1, NM_001377217.1, NM_001377227.1

e!Ensembl

Gene	ENSG00000186104
Transcript	ENST00000334636, ENST00000532805, ENST00000530609, ENST00000534686, ENST00000525015, ENST00000532378
Protein	ENSP00000334592, ENSP00000465097, ENSP00000466060, ENSP00000432087, ENSP00000466604, ENSP00000435484

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs2060793					28008453

Gene Ontology (GO)

Show/Hide all(11 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006082	Biological process	Organic acid metabolic process	IBA	21873635
GO:0006805	Biological process	Xenobiotic metabolic process	IBA	21873635
GO:0036378	Biological process	Calcitriol biosynthetic process from calciol	IDA	15465040
GO:0042738	Biological process	Exogenous drug catabolic process	IBA	21873635
GO:0055114	Biological process	Oxidation-reduction process	IBA	21873635
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0043231	Cellular component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0008395	Molecular function	Steroid hydroxylase activity	IBA	21873635
GO:0016712	Molecular function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA	21873635
GO:0020037	Molecular function	Heme binding	IBA	21873635
GO:0030343	Molecular function	Vitamin D3 25-hydroxylase activity	IDA	15465040

Protein Information

Protein Name

Vitamin D 25-hydroxylase, cytochrome P450 2R1, cytochrome P450, family 2, R1, cytochrome P450, family 2, subfamily R, polypeptide 1

Function

Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).

Refseq Proteins

NP_078790.2, NP_001364143.1, NP_001364144.1, NP_001364145.1, NP_001364146.1, NP_001364156.1

UniProt

Q6VVX0

PDB

3C6G, 3CZH, 3DL9

Pfam

Pfam Accession	Pfam ID
PF00067	p450