CYP2R1
entrez
120227
canonical
uniprot
Q6VVX0
canonical
ensembl
ENSG00000186104
resolver
ensp
ENSP00000334592
resolver
ensp
ENSP00000435484
resolver
ensp
ENSP00000653311
resolver
enst
ENST00000334636
resolver
enst
ENST00000532378
resolver
genesymbol
CYP2R1
resolver
hgnc
HGNC:20580
resolver
uniprot
E9PJT9
resolver
uniprot
Q2M3H3
resolver
uniprot
Q5RT65
resolver
uniprot_entry
CP2R1_HUMAN
resolver
uniprot_entry
E9PJT9_HUMAN
resolver
uniprot_sec
Q2M3H3
resolver
uniprot_sec
Q5RT65
resolver
amino_acid_sequence
MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSELPHVYMRKQSQVYGEIFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTKMGGLLNSRYGRGWVDHRRLAVNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFKQLITNAVSNITNLIIFGERFTYEDTDFQHMIELFSENVELAASASVFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAYLDEMDQGKNDPSSTFSKENLIFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKPSWDDKCKMPYTEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVFHPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPDLKPRLGMTLQPQPYLICAERR
uniprot
proteins
disease_involvement
DISEASE: Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081]: An autosomal recessive 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, ECO:0000269|PubMed:25942481}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.14.24
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:12867411, PubMed:15465040, PubMed:18511070). {ECO:0000269|PubMed:12867411, ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:18511070}.
uniprot
proteins
mass_dalton
57359
uniprot
proteins
pathway_participation
PATHWAY: Hormone biosynthesis; vitamin D biosynthesis. {ECO:0000305|PubMed:15465040, ECO:0000305|PubMed:18511070}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
12867411
uniprot
proteins
pubmed
15128933
uniprot
proteins
pubmed
15465040
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18511070
uniprot
proteins
pubmed
25942481
uniprot
proteins
sequence_length
501
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:15465040}; Peripheral membrane protein. Microsome membrane {ECO:0000305|PubMed:15465040}; Peripheral membrane protein.
uniprot
proteins