ID:THIL_HUMAN DESCRIPTION: RecName: Full=Acetyl-CoA acetyltransferase, mitochondrial; EC=2.3.1.9; AltName: Full=Acetoacetyl-CoA thiolase; AltName: Full=T2; Flags: Precursor; FUNCTION: Plays a major role in ketone body metabolism. CATALYTIC ACTIVITY: 2 acetyl-CoA = CoA + acetoacetyl-CoA. ENZYME REGULATION: Activated by potassium ions, but not sodium ions. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=4 uM for acteoacetyl coenzyme A; KM=20 uM for coenzyme A; KM=8 uM for 2-methylacteoacetyl coenzyme A; KM=508 uM for acetyl coenzyme A; SUBUNIT: Homotetramer. SUBCELLULAR LOCATION: Mitochondrion. DISEASE: Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:203750]; also known as alpha- methylacetoaceticaciduria. 3KTD is 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. SIMILARITY: Belongs to the thiolase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACAT1";
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 P24752
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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:0003824 catalytic activity GO:0003985 acetyl-CoA C-acetyltransferase activity GO:0016740 transferase activity GO:0016746 transferase activity, transferring acyl groups GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016830 carbon-carbon lyase activity GO:0016885 ligase activity, forming carbon-carbon bonds GO:0019899 enzyme binding GO:0042803 protein homodimerization activity GO:0046872 metal ion binding GO:0050662 coenzyme binding
Biological Process: GO:0001889 liver development GO:0006085 acetyl-CoA biosynthetic process GO:0006550 isoleucine catabolic process GO:0006635 fatty acid beta-oxidation GO:0007420 brain development GO:0008152 metabolic process GO:0009083 branched-chain amino acid catabolic process GO:0009725 response to hormone GO:0014070 response to organic cyclic compound GO:0015936 coenzyme A metabolic process GO:0015937 coenzyme A biosynthetic process GO:0042594 response to starvation GO:0046356 acetyl-CoA catabolic process GO:0046951 ketone body biosynthetic process GO:0046952 ketone body catabolic process GO:0051260 protein homooligomerization GO:0060612 adipose tissue development GO:0072229 metanephric proximal convoluted tubule development GO:1902224 ketone body metabolic process GO:1902860 propionyl-CoA biosynthetic process
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
