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Literature summary extracted from
- Cholesterol 24-hydroxylase: an enzyme of cholesterol turnover in the brain (2009), Annu. Rev. Biochem., 78, 1017-1040.
Cloned(Commentary)
| EC Number | Cloned (Comment) | Organism |
|---|---|---|
| 1.14.14.25 | expressed in 293 cells | Mus musculus |
| 1.14.14.25 | expressed in Escherichia coli | Homo sapiens |
Localization
| EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|---|
| 1.14.14.25 | endoplasmic reticulum | - |
Mus musculus | 5783 | - |
| 1.14.14.25 | microsome | - |
Rattus norvegicus | - |
- |
| 1.14.14.25 | microsome | - |
Bos taurus | - |
- |
Molecular Weight [Da]
| EC Number | Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
|---|---|---|---|---|
| 1.14.14.25 | 53000 | - |
immunoblotting | Mus musculus |
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 1.14.14.25 | Bos taurus | - |
- |
- |
| 1.14.14.25 | Canis lupus familiaris | - |
- |
- |
| 1.14.14.25 | Cavia porcellus | - |
- |
- |
| 1.14.14.25 | Danio rerio | A5WWJ0 | - |
- |
| 1.14.14.25 | Equus caballus | - |
- |
- |
| 1.14.14.25 | Equus sp. | - |
zebra | - |
| 1.14.14.25 | Gallus gallus | - |
- |
- |
| 1.14.14.25 | Homo sapiens | - |
- |
- |
| 1.14.14.25 | Macaca mulatta | - |
- |
- |
| 1.14.14.25 | Mus musculus | - |
C57BL/6J and 129S6/SvEv mice | - |
| 1.14.14.25 | Ornithorhynchus anatinus | - |
- |
- |
| 1.14.14.25 | Oryctolagus cuniculus | - |
- |
- |
| 1.14.14.25 | Pan troglodytes | - |
- |
- |
| 1.14.14.25 | Rattus norvegicus | - |
- |
- |
| 1.14.14.25 | Xenopus laevis | Q7SYY2 | - |
- |
Source Tissue
| EC Number | Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|---|
| 1.14.14.25 | brain | - |
Rattus norvegicus | - |
| 1.14.14.25 | brain | - |
Bos taurus | - |
| 1.14.14.25 | brain | - |
Equus caballus | - |
| 1.14.14.25 | brain | fetus, is largely confined to the brain | Homo sapiens | - |
| 1.14.14.25 | brain | is largely confined to the brain, neuron-specific expression | Mus musculus | - |
| 1.14.14.25 | hippocampus | high levels | Mus musculus | - |
| 1.14.14.25 | liver | small amounts, level is 100fold lower in the liver than in the brain | Mus musculus | - |
| 1.14.14.25 | additional information | the enzyme is absent from a cortical section from a cholesterol 24-hydroxylase knockout mouse | Mus musculus | - |
| 1.14.14.25 | neuron | large pyramidal cells and their dendrites in cortical layers II, III, V, and VI. Is absent from nonpyramidal cells that compose layer IV | Mus musculus | - |
| 1.14.14.25 | SH-SY5Y cell | contains cholesterol 24-hydroxylase mRNA but does not synthesize 24S-hydroxycholesterol | Homo sapiens | - |
| 1.14.14.25 | testis | small amounts, mRNA does not appear to be translated into protein in the testis | Mus musculus | - |
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 1.14.14.25 | cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2 | - |
Cavia porcellus | (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O | - |
? |  |
| 1.14.14.25 | cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2 | - |
Mus musculus | (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O | - |
? | |
| 1.14.14.25 | cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2 | - |
Homo sapiens | (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O | - |
? | |
| 1.14.14.25 | cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2 | - |
Rattus norvegicus | (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O | - |
? | |
| 1.14.14.25 | cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2 | - |
Bos taurus | (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O | - |
? | |
| 1.14.14.25 | cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2 | - |
Oryctolagus cuniculus | (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O | - |
? | |
| 1.14.14.25 | cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2 | - |
Equus caballus | (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O | - |
? | |
Synonyms
| EC Number | Synonyms | Comment | Organism |
|---|---|---|---|
| 1.14.14.25 | CYP46A1 | - |
Gallus gallus |
| 1.14.14.25 | CYP46A1 | - |
Cavia porcellus |
| 1.14.14.25 | CYP46A1 | - |
Mus musculus |
| 1.14.14.25 | CYP46A1 | - |
Homo sapiens |
| 1.14.14.25 | CYP46A1 | - |
Rattus norvegicus |
| 1.14.14.25 | CYP46A1 | - |
Bos taurus |
| 1.14.14.25 | CYP46A1 | - |
Oryctolagus cuniculus |
| 1.14.14.25 | CYP46A1 | - |
Canis lupus familiaris |
| 1.14.14.25 | CYP46A1 | - |
Equus caballus |
| 1.14.14.25 | CYP46A1 | - |
Macaca mulatta |
| 1.14.14.25 | CYP46A1 | - |
Equus sp. |
| 1.14.14.25 | CYP46A1 | - |
Pan troglodytes |
| 1.14.14.25 | CYP46A1 | - |
Ornithorhynchus anatinus |
| 1.14.14.25 | CYP46A1 | - |
Xenopus laevis |
| 1.14.14.25 | CYP46A1 | - |
Danio rerio |
Cofactor
| EC Number | Cofactor | Comment | Organism | Structure |
|---|---|---|---|---|
| 1.14.14.25 | NADPH | - |
Cavia porcellus | |
| 1.14.14.25 | NADPH | - |
Mus musculus | |
| 1.14.14.25 | NADPH | - |
Homo sapiens | |
| 1.14.14.25 | NADPH | - |
Rattus norvegicus | |
| 1.14.14.25 | NADPH | - |
Bos taurus | |
| 1.14.14.25 | NADPH | - |
Oryctolagus cuniculus | |
| 1.14.14.25 | NADPH | - |
Equus caballus | |
Expression
| EC Number | Organism | Comment | Expression |
|---|---|---|---|
| 1.14.14.25 | Mus musculus | expression of the gene in the mouse embryo as early as day 11.5 and gradual increase in mRNA and protein in postnatal brain. Over a 14-day culture period, during which the neurons extend processes and form increasing numbers of synapses but do not divide, there is a gradual increase in cholesterol 24-hydroxylase mRNA and protein | up |
| 1.14.14.25 | Homo sapiens | gradual increase in mRNA and protein in postnatal brain | up |
General Information
| EC Number | General Information | Comment | Organism |
|---|---|---|---|
| 1.14.14.25 | malfunction | disruption of the cholesterol 24-hydroxylase gene causes an 50% decrease in cholesterol turnover, which is compensated for by an equal decrease in the rate of de novo cholesterol synthesis. Mice lacking cholesterol 24-hydroxylase show that whole-body fatty acid and cholesterol metabolism are normal. Profound learning disabilities in cholesterol 24-hydroxylase-deficient mice are often caused by gross anatomical defects in the subregions of the brain implicated in the behavior. A minimal concentration of 0.2 mM geranylgeraniol is required to restore LTP in hippocampal slices from knockout mice | Mus musculus |
| 1.14.14.25 | physiological function | polymorphisms in the human gene are linked to neurodegenerative disorders, such as Alzheimer's disease | Homo sapiens |
| 1.14.14.25 | physiological function | the capacity to turn over cholesterol via the cholesterol 24-hydroxylase pathway may be acquired early during development of the central nervous system. The enzyme reduces the excretion of sterols from the brain but does not abolish this removal process | Mus musculus |
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