CYP2R1
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | Chr 11: 14.88 – 14.89 Mb | Chr 7: 114.15 – 114.16 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
CYP2R1 is cytochrome P450 2R1, an enzyme which is the principal vitamin D 25-hydroxylase.[5][6] In humans it is encoded by the CYP2R1 gene located on chromosome 11p15.2.[7] It is expressed in the endoplasmic reticulum in liver, where it performs the first step in the activation of vitamin D by catalyzing the formation of 25-hydroxyvitamin D.[8]
Vitamin D 25-hydroxylase activity is also possessed by some other cytochrome P450 enzymes, in particular CYP27A1, which is found in mitochondria.[8][9]
Function
CYP2R1 is a member of the cytochrome P450 superfamily of enzymes.[10] The cytochrome P450 proteins are mono-oxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids.[10]
CYP2R1 is present in the
Calcifediol is subsequently converted by the action of
Clinical significance
The conversion of vitamin D, especially cholecalciferol, to 25(OH)D (calcifediol) is one of the key steps in the vitamin D hormonal system. The CYP2R1 enzymatic activity achieving this process was previously thought to be constitutively expressed and stable, so that serum 25(OH)D was a measure of the supply of vitamin D.[9]
CYP2R1 is now known to be regulated, with variations in the expression and activity of CYP2R1 affecting circulating 25(OH)D.
Polymorphic variations in CYP2R1
Polymorphic variations in the CYP2R1 gene have the greatest effect on individual serum 25(OH)D concentrations compared with other gene variations.
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
- ^ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".
Studies in mice
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000186104 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030670 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ PMID 12867411.
- PMID 15128933.
- ^ "Entrez Gene: CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1".
- ^ PMID 24529992.
- ^ PMID 31589774.
- ^ PMID 12464240.
- ^ "Office of Dietary Supplements - Vitamin D". ods.od.nih.gov. 9 October 2020. Retrieved 7 March 2021.
- S2CID 376070.
- PMID 30526863.
- S2CID 1693344.
- PMID 28548312.
- PMID 24019477.
- ^ "Cyp2r1 Mouse Gene Details". www.mousephenotype.org. International Mouse Phenotyping Consortium. Retrieved 8 March 2021.
- PMID 21677750.
External links
- Human CYP2R1 genome location and CYP2R1 gene details page in the UCSC Genome Browser.