CYP27B1

GENE INFORMATION

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Gene name

CYP27B1 (HGNC Symbol)

Synonyms

CYP1, P450c1, PDDR, VDD1

Description

cytochrome P450, family 27, subfamily B, polypeptide 1 (HGNC Symbol)

Entrez gene summary

This 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]

Chromosome

12 (Chromosome progress)

Cytoband

q14.1

Chromosome location (bp)

58156117 - 58161034

Ensembl

ENSG00000111012 (version 73.37)

Entrez gene

1594

UniProt

O15528 (UniProt - Evidence at protein level)

neXtProt

NX_O15528

Antibodypedia

CYP27B1 antibodies
 

PROTEIN VIEW

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CYP27B1-001
 
CYP27B1-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CYP27B1-001 ENSP00000228606
ENST00000228606
O15528
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Show » Show » 508 56.5 No 0
CYP27B1-004 ENSP00000449472
ENST00000546567
F8VWR7
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Show » Show » 157 17.5 No 0