InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CYP2R1

Summary

InnateDB Gene

IDBG-33251.6

Last Modified

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

Gene Symbol

CYP2R1

Gene Name

cytochrome P450, family 2, subfamily R, polypeptide 1

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000186104

Encoded Proteins

IDBP-33253

cytochrome P450, family 2, subfamily R, polypeptide 1

IDBP-719315

IDBP-718679

IDBP-595208

cytochrome P450, family 2, subfamily R, polypeptide 1

IDBP-719273

IDBP-593300

cytochrome P450, family 2, subfamily R, polypeptide 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:14877440-14892252

Strand

Reverse strand

Band

p15.2

Transcripts

ENST00000334636	ENSP00000334592
ENST00000532805	ENSP00000465097
ENST00000530609	ENSP00000466060
ENST00000534686	ENSP00000432087
ENST00000525015	ENSP00000466604
ENST00000532378	ENSP00000435484
ENST00000526489
ENST00000526276
ENST00000532641
ENST00000529043

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

Cellular Component

GO:0005789

endoplasmic reticulum membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000030670

View Gene Order

ENSBTAG00000010419

Not yet available

Pathways

NETPATH

REACTOME

REACT_13523

Vitamin D (calciferol) metabolism pathway

REACT_13450

Vitamins pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_11057

Metabolism of steroid hormones and vitamin D pathway

REACT_13567

Cytochrome P450 - arranged by substrate type pathway

REACT_111217

Metabolism pathway

REACT_13433

Biological oxidations pathway

REACT_13705

Phase 1 - Functionalization of compounds pathway

KEGG

hsa00100

Steroid biosynthesis pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

E9PS56

UniProt Splice Variant

Entrez Gene

120227

UniGene

Hs.371427 Hs.691058 Hs.700063

RefSeq

NM_024514 XM_005252790 XM_005252791

HUGO

HGNC:20580

OMIM

608713

CCDS

CCDS7818

HPRD

10569

IMGT

EMBL

AC090835

GenPept

RNA Seq Atlas

120227