CYP24A1
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. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| cytochrome P450 family 24 subfamily A member 1 | MIM:126065 | Ensembl:ENSG00000019186 | HGNC:HGNC:2602 | PA27097 | 20q13.2 |
GO terms in CYP24A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005506 | iron ion binding |
| MF | IEA | GO:0008403 | 25-hydroxycholecalciferol-24-hydroxylase activity |
| MF | NAS | GO:0016491 | oxidoreductase activity |
| MF | TAS | GO:0020037 | heme binding |
| MF | IDA | GO:0030342 | 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity |
| MF | TAS | GO:0030342 | 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity |
| BP | IEP | GO:0001649 | osteoblast differentiation |
| BP | TAS | GO:0006766 | vitamin metabolic process |
| BP | IDA | GO:0033280 | response to vitamin D |
| BP | TAS | GO:0042359 | vitamin D metabolic process |
| BP | NAS | GO:0042369 | vitamin D catabolic process |
| BP | IDA | GO:0055114 | oxidation-reduction process |
| BP | NAS | GO:0070561 | vitamin D receptor signaling pathway |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005741 | mitochondrial outer membrane |
| CC | IDA | GO:0005886 | plasma membrane |
Gene expression in normal tissue: CYP24A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CYP24A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| 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-5579010 | Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) |
| reactome | R-HSA-5579029 | Metabolic disorders of biological oxidation enzymes |
| reactome | R-HSA-5668914 | Diseases of metabolism |
| reactome | R-HSA-8957322 | Metabolism of steroids |
| wikipathways | WP1531 | Vitamin D Metabolism |
| wikipathways | WP2877 | Vitamin D Receptor Pathway |
| wikipathways | WP299 | Nuclear Receptors in Lipid Metabolism and Toxicity |
| wikipathways | WP4141 | PI3K-AKT-mTOR - VitD3 Signalling |
| wikipathways | WP43 | Oxidation by Cytochrome P450 |
| wikipathways | WP702 | Metapathway biotransformation Phase I and II |
| kegg | hsa00100 | Steroid biosynthesis - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD427 | ABT737 | 3 |
| iGMDRD144 | NSC95397 | 6 |
| iGMDRD483 | SCH-529074 | 3 |
| iGMDRD781 | Sirolimus | 7 |
| iGMDRD446 | LY 2183240 | 4 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 6 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD474 | Avrainvillamide | 1 |
| iGMDRD227 | Fatostatin A | 4 |
| iGMDRD255 | SB225002 | 6 |
| iGMDRD870 | BRD63610 | 1 |
| iGMDRD188 | Piperlongumine | 4 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD780 | PP-30 | 2 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD60 | Quinoclamine | 5 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CYP24A1
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