Tchem CYP27B1 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

Protein Summary

Description

Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation. 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]

Uniprot Accession IDs

• O15528
• B2RC61
• Q548T3

Gene Name

• CYP27B1

Ensembl ID

• ENST00000228606
• ENSP00000228606
• ENSG00000111012

Symbol

• CYP1ALPHA
• CYP27B
• VDR
• CP2B
• CYP1
• PDDR
• VDD1
• VDDR
• VDDRI
• CYP27B
• P450c1
• CYP1alpha

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.98
biological term	0.82
disease	0.82
PubMedID	0.7
cellular component	0.67

Protein Classes

PANTHER Classes

Protein / Oxidoreductase / Oxygenase / 25-hydroxyvitamin D-1 Alpha Hydroxylase, Mitochondrial

DTO Classes

Protein / Enzyme / Oxidoreductase / Oxygenase / 25-hydroxyvitamin D-1 Alpha Hydroxylase, Mitochondrial

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 785.51   (req: < 5)

Gene RIFs: 175   (req: <= 3)

Antibodies: 120   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 785.51   (req: >= 5)

Gene RIFs: 175   (req: > 3)

Antibodies: 120   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 23

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 8

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1