CYP27B1
entrez
1594
canonical
uniprot
O15528
canonical
ensembl
ENSG00000111012
resolver
ensp
ENSP00000228606
resolver
enst
ENST00000228606
resolver
genesymbol
CYP27B1
resolver
genesymbol_syn
CYP1ALPHA
resolver
genesymbol_syn
CYP27B
resolver
hgnc
HGNC:2606
resolver
uniprot
B2RC61
resolver
uniprot
Q548T3
resolver
uniprot_entry
CP27B_HUMAN
resolver
uniprot_sec
B2RC61
resolver
uniprot_sec
Q548T3
resolver
activity_regulation
ACTIVITY REGULATION: Activated by cardiolipin and dioleoyl phosphatidylethanolamine (DOPE), phospholipids found in the inner mitochondrial membrane. Inhibited by high substrate concentration. {ECO:0000269|PubMed:22862690}.
uniprot
proteins
amino_acid_sequence
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR
uniprot
proteins
disease_involvement
DISEASE: Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]: 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. {ECO:0000269|PubMed:10320521, ECO:0000269|PubMed:10566658, ECO:0000269|PubMed:12050193, ECO:0000269|PubMed:9486994, ECO:0000269|PubMed:9837822}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.15.18
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR) (PubMed:10518789, PubMed:10566658, PubMed:12050193, PubMed:22862690, PubMed:9486994). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway (PubMed:10518789, PubMed:22862690). Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2 (PubMed:10518789). 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 FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:22862690). {ECO:0000269|PubMed:10518789, ECO:0000269|PubMed:10566658, ECO:0000269|PubMed:12050193, ECO:0000269|PubMed:22862690, ECO:0000269|PubMed:9486994}.
uniprot
proteins
mass_dalton
56504
uniprot
proteins
pathway_participation
PATHWAY: Hormone biosynthesis; vitamin D biosynthesis. {ECO:0000269|PubMed:9486994}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10320521
uniprot
proteins
pubmed
10518789
uniprot
proteins
pubmed
10566658
uniprot
proteins
pubmed
12050193
uniprot
proteins
pubmed
12496369
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22862690
uniprot
proteins
pubmed
9344864
uniprot
proteins
pubmed
9415400
uniprot
proteins
pubmed
9428799
uniprot
proteins
pubmed
9486994
uniprot
proteins
pubmed
9837822
uniprot
proteins
sequence_length
508
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane.
uniprot
proteins