Human Gene CYP24A1 (ENST00000395955.7) from GENCODE V44
Description: Homo sapiens cytochrome P450 family 24 subfamily A member 1 (CYP24A1), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001128915) RefSeq Summary (NM_001128915): 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]. Gencode Transcript: ENST00000395955.7 Gencode Gene: ENSG00000019186.10 Transcript (Including UTRs) Position: hg38 chr20:54,153,962-54,173,649 Size: 19,688 Total Exon Count: 11 Strand: - Coding Region Position: hg38 chr20:54,157,179-54,173,579 Size: 16,401 Coding Exon Count: 10
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
