Gene/Proteome Database (LMPD)

LMPD ID
LMP004786
Gene ID
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 2, subfamily R, polypeptide 1
Gene Symbol
Synonyms
-
Alternate Names
vitamin D 25-hydroxylase; cytochrome P450 2R1; cytochrome P450, family 2, R1
Chromosome
11
Map Location
11p15.2
EC Number
1.14.13.159
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]
Orthologs

Proteins

vitamin D 25-hydroxylase
Refseq ID NP_078790
Protein GI 45267826
UniProt ID Q6VVX0
mRNA ID NM_024514
Length 501
RefSeq Status REVIEWED
MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSELPHVYMRKQSQVYGEIFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTKMGGLLNSRYGRGWVDHRRLAVNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFKQLITNAVSNITNLIIFGERFTYEDTDFQHMIELFSENVELAASASVFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAYLDEMDQGKNDPSSTFSKENLIFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKPSWDDKCKMPYTEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVFHPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPDLKPRLGMTLQPQPYLICAERR

Gene Information

Entrez Gene ID
Gene Name
cytochrome P450, family 2, subfamily R, polypeptide 1
Gene Symbol
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0020037 IEA:InterPro F heme binding
GO:0005506 IEA:InterPro F iron ion binding
GO:0004497 IEA:UniProtKB-KW F monooxygenase activity
GO:0016705 IEA:InterPro F oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0030343 IEA:Ensembl F vitamin D3 25-hydroxylase activity
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0008202 TAS:Reactome P steroid metabolic process
GO:0042359 TAS:Reactome P vitamin D metabolic process
GO:0006766 TAS:Reactome P vitamin metabolic process
GO:0006805 TAS:Reactome P xenobiotic metabolic process

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_13523 Vitamin D (calciferol) metabolism
REACT_13450 Vitamins

Domain Information

InterPro Annotations

Accession Description
IPR001128 Cytochrome P450
IPR002401 Cytochrome P450, E-class, group I
IPR017972 Cytochrome P450, conserved site

UniProt Annotations

Entry Information

Gene Name
cytochrome P450, family 2, subfamily R, polypeptide 1
Protein Entry
CP2R1_HUMAN
UniProt ID
Species
Human

Comments

Comment Type Description
Biophysicochemical Properties Kinetic parameters: KM=0.67 uM for vitamin D(2) {ECO
Catalytic Activity Calciol + O(2) + NADPH = calcidiol + NADP(+) H(2)O. {ECO
Cofactor Name=heme; Xref=ChEBI
Disease Rickets vitamin D-dependent 1B (VDDR1B) [MIM
Function Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). {ECO
Similarity Belongs to the cytochrome P450 family.
Subcellular Location Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
Subunit Homodimer.

Identical and Related Proteins

Unique RefSeq proteins for LMP004786 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
45267826 RefSeq NP_078790 501 vitamin D 25-hydroxylase

Identical Sequences to LMP004786 proteins

Reference Database Accession Length Protein Name
GI:45267826 GenBank AAI04908.1 501 Cytochrome P450, family 2, subfamily R, polypeptide 1 [Homo sapiens]
GI:45267826 GenBank AAI04910.1 501 Cytochrome P450, family 2, subfamily R, polypeptide 1 [Homo sapiens]
GI:45267826 GenBank EAW68473.1 501 cytochrome P450, family 2, subfamily R, polypeptide 1, isoform CRA_d [Homo sapiens]
GI:45267826 GenBank ACE23168.1 501 Sequence 8400 from patent US 7368531
GI:45267826 GenBank ACH33919.1 501 Sequence 8400 from patent US 7411051
GI:45267826 GenBank AED39202.1 501 Sequence 1213 from patent US 7883858

Related Sequences to LMP004786 proteins

Reference Database Accession Length Protein Name
GI:45267826 GenBank AAQ31909.1 502 Sequence 69 from patent US 6566325
GI:45267826 GenBank ABC03318.1 502 Sequence 69 from patent US 6953667
GI:45267826 RefSeq XP_003254309.1 501 PREDICTED: vitamin D 25-hydroxylase-like [Nomascus leucogenys]
GI:45267826 RefSeq XP_004050792.1 501 PREDICTED: vitamin D 25-hydroxylase-like [Gorilla gorilla gorilla]
GI:45267826 RefSeq XP_003818241.2 540 PREDICTED: vitamin D 25-hydroxylase isoform X1 [Pan paniscus]
GI:45267826 RefSeq XP_001172230.2 540 PREDICTED: vitamin D 25-hydroxylase isoform X1 [Pan troglodytes]