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
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] |