LMPD Database

LMP000040

Record overview

LMPD IDLMP000040
Gene ID38
SpeciesHomo sapiens (Human)
Gene Nameacetyl-CoA acetyltransferase 1
Gene SymbolACAT1
SynonymsACAT; MAT; T2; THIL
Alternate namesacetyl-CoA acetyltransferase, mitochondrial; acetoacetyl-CoA thiolase; acetoacetyl Coenzyme A thiolase; acetyl-Coenzyme A acetyltransferase 1; mitochondrial acetoacetyl-CoA thiolase
Chromosome11
Map Location11q22.3
EC Number2.3.1.9
SummaryThis gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]
OrthologsView orthologs and multiple alignments for ACAT1

Proteins

acetyl-CoA acetyltransferase, mitochondrial precursor
Refseq ID:NP_000010
Protein GI:4557237
UniProt ID:P24752
mRNA ID:NM_000019
Length:427
RefSeq Status:REVIEWED
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEG
QAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENT
AKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADA
AKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTH
ALKQGEYGLASICNGGGGASAMLIQKL
 
transit_peptide: 1..33
calculated_mol_wt: 3832
peptide sequence: 
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSY

mat_peptide: 34..427
product: acetyl-CoA acetyltransferase, mitochondrial
calculated_mol_wt: 41386
peptide sequence: 
VSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAI
MMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGN
EVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAA
SMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQKL