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 |
|---|---|---|---|---|---|
| cytochrome P450 family 27 subfamily B member 1 | MIM:609506 | Ensembl:ENSG00000111012 | HGNC:HGNC:2606 | PA27099 | 12q14.1 |
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 |
| BP | IDA | GO:0008285 | negative regulation of cell proliferation |
| BP | IDA | GO:0010956 | negative regulation of calcidiol 1-monooxygenase activity |
| BP | IDA | GO:0010980 | positive regulation of vitamin D 24-hydroxylase activity |
| BP | IEP | GO:0030282 | bone mineralization |
| BP | IMP | GO:0030308 | negative regulation of cell growth |
| BP | IMP | GO:0030500 | regulation of bone mineralization |
| BP | IDA | GO:0032496 | response to lipopolysaccharide |
| BP | IDA | GO:0033280 | response to vitamin D |
| BP | IDA | GO:0034341 | response to interferon-gamma |
| BP | IDA | GO:0036378 | calcitriol biosynthetic process from calciol |
| BP | IDA | GO:0042359 | vitamin D metabolic process |
| BP | TAS | GO:0042359 | vitamin D metabolic process |
| BP | IEA | GO:0042369 | vitamin D catabolic process |
| BP | IEP | GO:0043627 | response to estrogen |
| BP | IMP | GO:0045618 | positive regulation of keratinocyte differentiation |
| BP | IEP | GO:0046697 | decidualization |
| BP | IMP | GO:0055074 | calcium ion homeostasis |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| BP | IMP | GO:0070314 | G1 to G0 transition |
| BP | IDA | GO:0070564 | positive regulation of vitamin D receptor signaling pathway |
| MF | IDA | GO:0004498 | calcidiol 1-monooxygenase activity |
| MF | TAS | GO:0004498 | calcidiol 1-monooxygenase activity |
| MF | IEA | GO:0005506 | iron ion binding |
| MF | IEA | GO:0020037 | heme binding |
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 |
| kegg | hsa00100 | Steroid biosynthesis - Homo sapiens (human) |
| kegg | hsa05152 | Tuberculosis - Homo sapiens (human) |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-196791 | Vitamin D (calciferol) metabolism |
| reactome | R-HSA-211859 | Biological oxidations |
| reactome | R-HSA-211897 | Cytochrome P450 - arranged by substrate type |
| reactome | R-HSA-211916 | Vitamins |
| reactome | R-HSA-211945 | Phase I - Functionalization of compounds |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-5579014 | Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) |
| reactome | R-HSA-5579029 | Metabolic disorders of biological oxidation enzymes |
| reactome | R-HSA-5668914 | Diseases of metabolism |
| reactome | R-HSA-8957322 | Metabolism of steroids |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD82 | Quiflapon | 3 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD562 | Navitoclax | 5 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD577 | BIX01294 | 4 |
| iGMDRD329 | Merck60 | 9 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD871 | BRD6368 | 4 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD202 | Curcumin | 6 |
| iGMDRD137 | Indisulam | 5 |
| iGMDRD634 | SCHEMBL2608041 | 1 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD237 | ABT-751 | 1 |
| iGMDRD201 | SKI II | 3 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD781 | Sirolimus | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD387 | CHIR-99021 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CYP27B1
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.