LMPD Database

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LMP000490

Record overview

LMPD IDLMP000490
Gene ID1594
SpeciesHomo sapiens (Human)
Gene Namecytochrome P450, family 27, subfamily B, polypeptide 1
Gene SymbolCYP27B1
SynonymsCP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Alternate names25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; 1alpha(OH)ase; VD3 1A hydroxylase; cytochrome p450 27B1; cytochrome P450C1 alpha; cytochrome P450VD1-alpha; calcidiol 1-monooxygenase; 25-OHD-1 alpha-hydroxylase; 25 hydroxyvitamin D3-1-alpha hydroxylase; cytochrome P450 subfamily XXVIIB polypeptide 1
Chromosome12
Map Location12q14.1
EC Number1.14.13.13
SummaryThis gene encodes 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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for CYP27B1

Proteins

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Refseq ID:NP_000776
Protein GI:4503213
UniProt ID:O15528
mRNA ID:NM_000785
Length:508
RefSeq Status:REVIEWED
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQ
EGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAA
VLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFRE
ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDY
IIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERS
INLQFLDR