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Literature summary for 1.14.15.16 extracted from
- Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system (2015), J. Clin. Endocrinol. Metab., 100, 684-688.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene CYP24A1, cloned from leukocyte DNA, DNA and amino acid sequence determination and analysis, expression analysis by RT-PCR, recombinant expression of wild-type and mutant CYP24A1 cDNAs in JEG-3 cells. The mammalian two-hybrid assay system consisting of the retinoid-X receptor and vitamin D receptor in JEG-3 cells is used as a simple, sensitive, quantitative assay of enzyme activity | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| E143del | naturally occuring mutation | Homo sapiens |
| E147del | naturally occuring mutation | Homo sapiens |
| E149del | naturally occuring mutation | Homo sapiens |
| E151X | naturally occuring mutation | Homo sapiens |
| E322K | naturally occuring mutation | Homo sapiens |
| L409S | naturally occuring missense mutation, found on only one allele, no other mutation is found in exons or in at least 30 bp of each intron/exon junction. ThecL409S mutant has about 32% of wild-type 24-hydroxylase activity | Homo sapiens |
| additional information | genotyping and phenotypes of diverse mutants of CYP24A1, overview | Homo sapiens |
| R159Q | naturally occuring mutation | Homo sapiens |
| R396W | naturally occuring mutation | Homo sapiens |
| W210R | naturally occuring mutation | Homo sapiens |
| W268X | naturally occuring mutation | Homo sapiens |
KM Value [mM]
| KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|
| 0.0086 | - |
calcitriol | recombinant mutant L409S enzyme, pH and temperature not specified in the publication | Homo sapiens |  |
| 0.009 | - |
calcitriol | recombinant wild-type enzyme, pH and temperature not specified in the publication | Homo sapiens | |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| mitochondrion | - |
Homo sapiens | 5739 | - |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| calcidiol + 2 reduced adrenodoxin + 2 H+ + O2 | Homo sapiens | - |
secalciferol + 2 oxidized adrenodoxin + H2O | - |
? | |
| calcitetrol + 2 reduced adrenodoxin + 2 H+ + O2 | Homo sapiens | - |
24-oxo-1alpha,25-dihydroxyvitamin D3 + 2 oxidized adrenodoxin + H2O | - |
? | |
| calcitriol + 2 reduced adrenodoxin + 2 H+ + O2 | Homo sapiens | - |
calcitetrol + 2 oxidized adrenodoxin + H2O | - |
? | |
| additional information | Homo sapiens | CYP24A1 also catalyzes the 23-hydroxylase pathway that degrades calcidiol and calcitriol | ? | - |
? | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | Q07973 | gene CYP24A1 | - |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| intestine | primarily | Homo sapiens | - |
| kidney | primarily | Homo sapiens | - |
| leukocyte | - |
Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| calcidiol + 2 reduced adrenodoxin + 2 H+ + O2 | - |
Homo sapiens | secalciferol + 2 oxidized adrenodoxin + H2O | - |
? | |
| calcitetrol + 2 reduced adrenodoxin + 2 H+ + O2 | - |
Homo sapiens | 24-oxo-1alpha,25-dihydroxyvitamin D3 + 2 oxidized adrenodoxin + H2O | - |
? | |
| calcitriol + 2 reduced adrenodoxin + 2 H+ + O2 | - |
Homo sapiens | calcitetrol + 2 oxidized adrenodoxin + H2O | - |
? | |
| additional information | CYP24A1 also catalyzes the 23-hydroxylase pathway that degrades calcidiol and calcitriol | Homo sapiens | ? | - |
? | |
| additional information | to mediate catalysis, mitochondrial P450 enzymes, including CYP27B1 and CYP24A1, must receive electrons fromreduced nicotinamide adenine dinucleotide phosphate via ferredoxin reductase and ferredoxin. The mammalian two-hybrid assay system consisting of the retinoid-X receptor and vitamin D receptor in JEG-3 cells is used as a simple, sensitive, quantitative assay of enzyme activity | Homo sapiens | ? | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| 24-hydroxylase | - |
Homo sapiens |
| 24OHase | - |
Homo sapiens |
| CYP24A1 | - |
Homo sapiens |
Cofactor
| Cofactor | Comment | Organism | Structure |
|---|---|---|---|
| adrenodoxin | - |
Homo sapiens | |
| heme | - |
Homo sapiens | |
| NADPH | - |
Homo sapiens | |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | mutations of the CYP24A1 gene encoding the 24-hydroxylase that inactivates metabolites of vitamin D can cause hypercalcemia in infants and adults, phenotypes, overview. A young adult with a CYP24A1 mutation L409S shows bilateral nephrolithiasis and hypercalcemia in the setting of excessive vitamin D intake | Homo sapiens |
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