Entity Details

Primary name THIL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP24752
EntryNameTHIL_HUMAN
FullNameAcetyl-CoA acetyltransferase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length427
SequenceStatuscomplete
DateCreated1992-03-01
DateModified2021-06-02

Ontological Relatives

GenesACAT1

GO terms

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GOName
GO:0003985 acetyl-CoA C-acetyltransferase activity
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006085 acetyl-CoA biosynthetic process
GO:0006550 isoleucine catabolic process
GO:0006635 fatty acid beta-oxidation
GO:0009083 branched-chain amino acid catabolic process
GO:0015936 coenzyme A metabolic process
GO:0015937 coenzyme A biosynthetic process
GO:0016453 C-acetyltransferase activity
GO:0030955 potassium ion binding
GO:0034435 cholesterol esterification
GO:0046356 acetyl-CoA catabolic process
GO:0046951 ketone body biosynthetic process
GO:0046952 ketone body catabolic process
GO:0070062 extracellular exosome
GO:1902224 ketone body metabolic process
GO:1902860 propionyl-CoA biosynthetic process

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR002155 ThiolaseFamilyFamily
IPR016039 Thiolase-likeFamilyHomologous superfamily
IPR020610 Thiolase, active siteSiteActive site
IPR020613 Thiolase, conserved siteSiteConserved site
IPR020615 Thiolase, acyl-enzyme intermediate active siteSiteActive site
IPR020616 Thiolase, N-terminalDomainDomain
IPR020617 Thiolase, C-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
203750 OMIM3-ketothiolase deficiency (3KTD)An autosomal recessive 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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00795 SulfasalazineDrugbanksmall molecule
DB09061 CannabidiolDrugbanksmall molecule
DB14009 Medical CannabisDrugbankbiotech
DB14011 NabiximolsDrugbanksmall molecule