EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
1.14.15.15 | additional information | construction of enzyme knockout null mutant mice | Mus musculus |
EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|---|
1.14.15.15 | mitochondrion | - |
Homo sapiens | 5739 | - |
1.14.15.15 | mitochondrion | - |
Mus musculus | 5739 | - |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
1.14.15.15 | cholesterol + reduced adrenodoxin + O2 | Homo sapiens | - |
27-hydroxycholesterol + oxidized adrenodoxin + H2O | - |
? | |
1.14.15.15 | cholesterol + reduced adrenodoxin + O2 | Mus musculus | - |
27-hydroxycholesterol + oxidized adrenodoxin + H2O | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
1.14.15.15 | Homo sapiens | Q02318 | gene CYP27A1 | - |
1.14.15.15 | Mus musculus | Q9DBG1 | gene CYP27A1 | - |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
1.14.15.15 | liver | - |
Homo sapiens | - |
1.14.15.15 | liver | - |
Mus musculus | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
1.14.15.15 | cholesterol + reduced adrenodoxin + O2 | - |
Homo sapiens | 27-hydroxycholesterol + oxidized adrenodoxin + H2O | - |
? | |
1.14.15.15 | cholesterol + reduced adrenodoxin + O2 | - |
Mus musculus | 27-hydroxycholesterol + oxidized adrenodoxin + H2O | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
1.14.15.15 | CYP27A1 | - |
Homo sapiens |
1.14.15.15 | CYP27A1 | - |
Mus musculus |
1.14.15.15 | sterol 27-hydroxylase | - |
Homo sapiens |
1.14.15.15 | sterol 27-hydroxylase | - |
Mus musculus |
EC Number | Cofactor | Comment | Organism | Structure |
---|---|---|---|---|
1.14.15.15 | adrenodoxin | - |
Homo sapiens | |
1.14.15.15 | adrenodoxin | - |
Mus musculus | |
1.14.15.15 | NADPH | dependent on | Homo sapiens | |
1.14.15.15 | NADPH | dependent on | Mus musculus |
EC Number | General Information | Comment | Organism |
---|---|---|---|
1.14.15.15 | malfunction | CYP27A1 deficiency may upregulate the activity of 11beta-hydroxysteroid dehydrogenase 1, and downregulate the activity of 11beta-hydroxysteroid dehydrogenase 2. In a patient with cerebrotendinous xanthomatosis carrying a loss-of-function mutation in CYP27A1, the plasma concentrations of 27-hydroxycholesterol are dramatically reduced, with enhanced HSD11B1 and diminished HSD11B2 activities | Homo sapiens |
1.14.15.15 | malfunction | in Cyp27a1 knockout mice, the plasma concentrations of 27-hydroxycholesterol are undetectable. In the liver of the mutant mice, the increase in concentrations of active glucocorticoids is due to increased liver weight as a consequence of Cyp27a1 deficiency | Mus musculus |
1.14.15.15 | physiological function | in the liver, CYP27A1 catalyses the first step of the alternative pathway of bile acid biosynthesis and intermediate reactions in the classical pathway initiated by CYP7A1. In extrahepatic tissues, CYP27A1 plays a role in reverse cholesterol transport because its product 27-hydroxycholesterol is removed and carried to the liver, where it is converted to bile acids. 27-Hydroxycholesterol is a key regulator of cholesterol homeostasis. Sterol 27-hydroxylase (CYP27A1) catalyses the first step in the alternative pathway of bile acid synthesis by hydroxylating cholesterol to 27-hydroxycholesterol, which is a natural ligand for liver X receptor. In vitro agonist treatment of liver X receptor downregulates the activity of 11beta-hydroxysteroid dehydrogenase 1, HSD11B1, that is involved in regulation of intracellular availability of glucocorticoids | Homo sapiens |
1.14.15.15 | physiological function | in the liver, CYP27A1 catalyses the first step of the alternative pathway of bile acid biosynthesis and intermediate reactions in the classical pathway initiated by CYP7A1. In extrahepatic tissues, CYP27A1 plays a role in reverse cholesterol transport because its product 27-hydroxycholesterol is removed and carried to the liver, where it is converted to bile acids. 27-Hydroxycholesterol is a key regulator of cholesterol homeostasis. Sterol 27-hydroxylase (CYP27A1) catalyses the first step in the alternative pathway of bile acid synthesis by hydroxylating cholesterol to 27-hydroxycholesterol, which is a natural ligand for liver X receptor. In vitro agonist treatment of liver X receptor downregulates the activity of 11beta-hydroxysteroid dehydrogenase 1, HSD11B1, that is involved in regulation of intracellular availability of glucocorticoids | Mus musculus |