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Description for Protein CYP27B1

cytochrome P450, family 27, subfamily B, polypeptide 1
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.14.13.13
KEGG - Orthology:
K07438
KEGG - Pathway(s):
hsa00100; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Calcidiol 1-monooxygenase; 25-OHD-1 alpha-hydroxylase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; VD3 1A hydroxylase; P450C1 alpha; P450VD1-alpha; Cytochrome P450, family 27, subfamily B, polypeptide 1PDDR; Vitamin D-dependent rickets, type 1; VDDR I; VDD1; 25-hydroxycholecalciferol-1-hydroxylase deficiency; 1-alpha-hydroxylase deficiency; Cytochrome P450, subfamily XXVIIB, polypeptide 1; 1-alpha-hydroxylase; P450C1-alpha; 25 hydroxyvitamin D 1 alpha hydroxylase, mitochondrial precursor
Approved Symbol:
CYP27B1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Vitamin D-dependent rickets, type I(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02031 Entrez Gene ID: 1594 OMIM ID: 609506 Swissprot Accession: O15528; Q548T3;