MGP Database

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MGP006407

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 2, subfamily R, polypeptide 1
Protein EntryCP2R1_HUMAN
UniProt IDQ6VVX0
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=0.67 uM for vitamin D(2) {ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:18511070}; KM=0.45 uM for vitamin D(3) {ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:18511070};
Catalytic ActivityCalciol + O(2) + NADPH = calcidiol + NADP(+) H(2)O. {ECO:0000269|PubMed:12867411, ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:18511070}.
CofactorName=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250};
DiseaseRickets vitamin D-dependent 1B (VDDR1B) [MIM:600081]: A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D. {ECO:0000269|PubMed:15128933}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHas a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). {ECO:0000269|PubMed:12867411, ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:18511070}.
SimilarityBelongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
SubunitHomodimer. {ECO:0000269|PubMed:18511070}.
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