CYP2R1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Cytochrome P450, family 2, subfamily R, polypeptide 1
Protein CYP2R1 PDB 2ojd.png
PDB rendering based on 2ojd.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CYP2R1 ; MGC4663
External IDs OMIM608713 MGI2449771 HomoloGene75210 GeneCards: CYP2R1 Gene
EC number 1.14.13.159
RNA expression pattern
PBB GE CYP2R1 gnf1h06427 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 120227 244209
Ensembl ENSG00000186104 ENSMUSG00000030670
UniProt Q6VVX0 Q6VVW9
RefSeq (mRNA) NM_024514 NM_177382
RefSeq (protein) NP_078790 NP_796356
Location (UCSC) Chr 11:
14.9 – 14.91 Mb
Chr 7:
114.55 – 114.56 Mb
PubMed search [1] [2]

Vitamin D 25-hydroxylase also known as cytochrome P450 2R1 is an enzyme that in humans is encoded by the CYP2R1 gene.[1][2][3]

Function[edit]

Vitamin D 25-hydroxylase is 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. Found in the liver, this enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into 25-hydroxyvitamin D (calcidiol), which is the major circulatory form of the vitamin.

Clinical significance[edit]

An inherited mutation in the CYP2R1 gene which results in the substitution of a proline for a leucine residue at codon 99 eliminates the enzyme activity and is associated with low circulating levels of 25-hydroxyvitamin D and classic symptoms of vitamin D deficiency.[2] The gene product which it encodes, vitamin D 25-hydroxylase, has therefore been proposed as the key enzyme in the conversion of cholecalciferol (vitamin D3) to calcidiol. Calcidiol is subsequently converted by the action of 25-hydroxyvitamin D3 1-alpha-hydroxylase to calcitriol, the active form of vitamin D3 that binds to the vitamin D receptor (VDR) which mediates most of the physiological actions of the vitamin.[2]

Conversion of cholecalciferol to calcidiol as catalyzed by CYP2R1.

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

[[File:
VitaminDSynthesis_WP1531 Go to article Go to article Go to article Go to article go to article Go to article Go to article Go to article go to article go to article go to article go to article Go to article Go to article go to article Go to article go to article go to article go to article Go to article go to article
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
[[
]]
VitaminDSynthesis_WP1531 Go to article Go to article Go to article Go to article go to article Go to article Go to article Go to article go to article go to article go to article go to article Go to article Go to article go to article Go to article go to article go to article go to article Go to article go to article
|{{{bSize}}}px]]
Vitamin D Synthesis Pathway edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531". 

References[edit]

  1. ^ Nelson DR (Dec 2002). "Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution". Arch Biochem Biophys 409 (1): 18–24. doi:10.1016/S0003-9861(02)00553-2. PMID 12464240. 
  2. ^ a b c Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW (2004-05-18). "Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase". Proc Natl Acad Sci U S A 101 (20): 7711–7715. Bibcode:2004PNAS..101.7711C. doi:10.1073/pnas.0402490101. PMC 419671. PMID 15128933. 
  3. ^ "Entrez Gene: CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1". 

Further reading[edit]