CYP27B1
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609506 Ensembl IDEnsembl:ENSG00000111012 HGNC IDHGNC:HGNC:2606 PHARMGKB IDPA27099 Map Location12q14.1 | |||||
GO terms in CYP27B1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005741 | mitochondrial outer membrane |
| BP | TAS | GO:0006766 | vitamin metabolic process |
| BP | ISS | GO:0006816 | calcium ion transport |
Gene expression in normal tissue: CYP27B1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CYP27B1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP1531 | Vitamin D Metabolism |
| wikipathways | WP2877 | Vitamin D Receptor Pathway |
| wikipathways | WP299 | Nuclear Receptors in Lipid Metabolism and Toxicity |
| wikipathways | WP43 | Oxidation by Cytochrome P450 |
| wikipathways | WP702 | Metapathway biotransformation Phase I and II |
| humancyc | PWY-6076 | vitamin D3 biosynthesis |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CYP27B1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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