Human Gene CYP24A1 (ENST00000216862.8_7) from GENCODE V47lift37
Description: A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) (PubMed:24893882, PubMed:15574355, PubMed:8679605, PubMed:11012668, PubMed:16617161, PubMed:29461981). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid (PubMed:24893882, PubMed:15574355). With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product (PubMed:11012668, PubMed:8679605). Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S- hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol (PubMed:25727742). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:8679605). (from UniProt Q07973) Gencode Transcript: ENST00000216862.8_7 Gencode Gene: ENSG00000019186.10_9 Transcript (Including UTRs) Position: hg19 chr20:52,769,985-52,790,525 Size: 20,541 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr20:52,773,718-52,790,118 Size: 16,401 Coding Exon Count: 11
ID:CP24A_HUMAN DESCRIPTION: RecName: Full=1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; Short=24-OHase; Short=Vitamin D(3) 24-hydroxylase; EC=1.14.13.126; AltName: Full=Cytochrome P450 24A1; AltName: Full=Cytochrome P450-CC24; Flags: Precursor; FUNCTION: Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23- hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product. CATALYTIC ACTIVITY: Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O. CATALYTIC ACTIVITY: Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O. COFACTOR: Heme group (By similarity). SUBCELLULAR LOCATION: Mitochondrion. DISEASE: Defects in CYP24A1 are the cause of hypercalcemia infantile (HCAI) [MIM:143880]. HCAI is a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. SIMILARITY: Belongs to the cytochrome P450 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q07973
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0005506 iron ion binding GO:0008403 25-hydroxycholecalciferol-24-hydroxylase activity GO:0016491 oxidoreductase activity GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0020037 heme binding GO:0030342 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity GO:0046872 metal ion binding
Biological Process: GO:0001649 osteoblast differentiation GO:0006766 vitamin metabolic process GO:0033280 response to vitamin D GO:0042359 vitamin D metabolic process GO:0042369 vitamin D catabolic process GO:0055114 oxidation-reduction process GO:0070561 vitamin D receptor signaling pathway
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
