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MGP000023

UniProt Annotations

Entry Information
Gene Nameacetyl-CoA acetyltransferase 1
Protein EntryTHIL_HUMAN
UniProt IDP24752
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P24752-1; Sequence=Displayed; Name=2; IsoId=P24752-2; Sequence=VSP_056844, VSP_056845; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=4 uM for acetoacetyl coenzyme A {ECO:0000269|PubMed:17371050}; KM=20 uM for coenzyme A {ECO:0000269|PubMed:17371050}; KM=8 uM for 2-methylacetoacetyl coenzyme A {ECO:0000269|PubMed:17371050}; KM=508 uM for acetyl coenzyme A {ECO:0000269|PubMed:17371050};
Catalytic Activity2 acetyl-CoA = CoA + acetoacetyl-CoA. {ECO:0000255|PROSITE-ProRule:PRU10020, ECO:0000269|PubMed:17371050}.
Disease3-ketothiolase deficiency (3KTD) [MIM:203750]: An inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. {ECO:0000269|PubMed:1346617, ECO:0000269|PubMed:1715688, ECO:0000269|PubMed:7728148, ECO:0000269|PubMed:9744475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActivated by potassium ions, but not sodium ions. {ECO:0000269|PubMed:17371050}.
FunctionPlays a major role in ketone body metabolism.
PtmSuccinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity). {ECO:0000250}.
SimilarityBelongs to the thiolase family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitHomotetramer. {ECO:0000269|PubMed:17371050}.
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