CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 [Homo sapiens (human)]
| Gene Symbol | CYP24A1 |
| Entrez Gene ID | 1591 |
| Full Name | cytochrome P450, family 24, subfamily A, polypeptide 1 |
| Synonyms | CP24, CYP24, MGC126273, MGC126274, P450-CC24 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
20 20q13 |
| 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]. |
| Disorder | MIM: 126065 |
| mRNA | NM_000782, 193083115 |
| Protein | NP_000773, 55770850 |
| Product | 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001128915, 193083116 |
| Protein | NP_001122387, 193083117 |
| Product | 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor |
| RefSeq Status | REVIEWED |
| WP1531 | Vitamin D synthesis |
| WP299 | Nuclear receptors in lipid metabolism and toxicity |
Reactome
| REACT_11057 | Metabolism of steroid hormones and vitamins A and D |
| REACT_13523 | Vitamin D (calciferol) metabolism |
| REACT_22258 | Metabolism of lipids and lipoproteins |
| REACT_13705 | Phase 1 - Functionalization of compounds |
| REACT_13450 | Vitamins |
| REACT_11193 | Metabolism of vitamins and cofactors |
| REACT_13433 | Biological oxidations |
| REACT_13567 | Cytochrome P450 - arranged by substrate type |
| Homo sapiens (human) | CYP24A1 | NP_000773.2 |
| Pan troglodytes (chimpanzee) | LOC746729 | XP_001154704.1 |
| Canis lupus familiaris (dog) | CYP24A1 | XP_543059.2 |
| Bos taurus (cattle) | CYP24A1 | XP_591370.3 |
| Mus musculus (house mouse) | Cyp24a1 | NP_034126.1 |
| Rattus norvegicus (Norway rat) | Cyp24a1 | NP_963966.1 |
| Gallus gallus (chicken) | CYP24A1 | NP_990310.1 |
| Danio rerio (zebrafish) | cyp24a1l | NP_001082927.1 |
| Drosophila melanogaster (fruit fly) | Cyp12b2 | NP_611370.2 |
| Caenorhabditis elegans | cyp-44A1 | NP_495052.1 |
| ID | Name | Evidence |
| GO:0001649 | osteoblast differentiation | IEP |
| GO:0006766 | vitamin metabolic process | TAS |
| GO:0006805 | xenobiotic metabolic process | TAS |
| GO:0008202 | steroid metabolic process | EXP |
| GO:0033280 | response to vitamin D | IDA |
| GO:0042359 | vitamin D metabolic process | EXP |
| GO:0042369 | vitamin D catabolic process | NAS |
| GO:0042446 | hormone biosynthetic process | TAS |
| GO:0055114 | oxidation-reduction process | IDA |
| GO:0055114 | oxidation-reduction process | NAS |
| GO:0070561 | vitamin D receptor signaling pathway | IEP |
| GO:0070561 | vitamin D receptor signaling pathway | NAS |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005743 | mitochondrial inner membrane | EXP |
| GO:0005743 | mitochondrial inner membrane | TAS |
Function
| ID | Name | Evidence |
| GO:0008403 | 25-hydroxycholecalciferol-24-hydroxylase activity | IEA |
| GO:0009055 | electron carrier activity | IEA |
| GO:0016491 | oxidoreductase activity | NAS |
| GO:0016709 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen | IEA |
| GO:0020037 | heme binding | TAS |
| GO:0030342 | 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity | EXP |
| GO:0030342 | 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity | IDA |
| GO:0030342 | 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity | TAS |
| GO:0046872 | metal ion binding | IEA |
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