MGP Database

MGP000023

Record overview

MGPD ID	MGP000023
Gene ID	38
Species	Homo sapiens (Human)
Gene Name	acetyl-CoA acetyltransferase 1
Gene Symbol	ACAT1
Synonyms	T2; MAT; ACAT; THIL;
Alternate names	acetyl-CoA acetyltransferase, mitochondrial; acetoacetyl Coenzyme A thiolase; acetoacetyl-CoA thiolase; acetyl-Coenzyme A acetyltransferase 1; mitochondrial acetoacetyl-CoA thiolase;
Chromosome	11
Map Location	11q22.3
EC Number	2.3.1.9
Summary	This 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]
Orthologs	View 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:

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