InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP2R1

Summary

InnateDB Protein

IDBP-33253.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYP2R1

Protein Name

cytochrome P450, family 2, subfamily R, polypeptide 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000334592

InnateDB Gene

IDBG-33251 (CYP2R1)

Protein Structure

UniProt Annotation

Function

Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). {ECO:0000269PubMed:12867411, ECO:0000269PubMed:15465040, ECO:0000269PubMed:18511070}.

Subcellular Localization

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Disease Associations

Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081]: A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D. {ECO:0000269PubMed:15128933}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004497	monooxygenase activity
GO:0005506	iron ion binding
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding
GO:0030343	vitamin D3 25-hydroxylase activity

Biological Process

GO:0006766	vitamin metabolic process
GO:0006805	xenobiotic metabolic process
GO:0008202	steroid metabolic process
GO:0036378	calcitriol biosynthetic process from calciol
GO:0042359	vitamin D metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process