Gene/Proteome Database (LMPD)

LMPD ID
LMP000040
Gene ID
38
Species
Homo sapiens (Human)
Gene Name
acetyl-CoA acetyltransferase 1
Gene Symbol
ACAT1
Synonyms
ACAT; MAT; T2; THIL
Alternate Names
acetyl-CoA acetyltransferase, mitochondrial; acetoacetyl-CoA thiolase; acetoacetyl Coenzyme A 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 REVIEWED
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQKL
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: VSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQKL

Gene Information

Entrez Gene ID
38
Gene Name
acetyl-CoA acetyltransferase 1
Gene Symbol
ACAT1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0005743 IEA:Ensembl C mitochondrial inner membrane
GO:0005759 TAS:Reactome C mitochondrial matrix
GO:0005739 IDA:HPA C mitochondrion
GO:0003985 EXP:Reactome F acetyl-CoA C-acetyltransferase activity
GO:0050662 IEA:Ensembl F coenzyme binding
GO:0046872 IEA:UniProtKB-KW F metal ion binding
GO:0060612 IEA:Ensembl P adipose tissue development
GO:0007420 IEA:Ensembl P brain development
GO:0009083 TAS:Reactome P branched-chain amino acid catabolic process
GO:0046950 TAS:Reactome P cellular ketone body metabolic process
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0034641 TAS:Reactome P cellular nitrogen compound metabolic process
GO:0046951 TAS:Reactome P ketone body biosynthetic process
GO:0046952 TAS:Reactome P ketone body catabolic process
GO:0001889 IEA:Ensembl P liver development
GO:0072229 IEA:Ensembl P metanephric proximal convoluted tubule development
GO:0051260 IEA:Ensembl P protein homooligomerization
GO:0009725 IEA:Ensembl P response to hormone
GO:0014070 IEA:Ensembl P response to organic cyclic compound
GO:0042594 IEA:Ensembl P response to starvation
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa01200 Carbon metabolism
hsa00900 Terpenoid backbone biosynthesis

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY66-368 ketolysis

Domain Information

InterPro Annotations

Accession Description
IPR002155 Thiolase
IPR020617 Thiolase, C-terminal
IPR020616 Thiolase, N-terminal
IPR020610 Thiolase, active site
IPR020615 Thiolase, acyl-enzyme intermediate active site
IPR020613 Thiolase, conserved site
IPR016039 Thiolase-like
IPR016038 Thiolase-like, subgroup

UniProt Annotations

Entry Information

Gene Name
acetyl-CoA acetyltransferase 1
Protein Entry
THIL_HUMAN
UniProt ID
P24752
Species
Human

Comments

Comment Type Description
Alternative Products Event=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 Properties Kinetic parameters: KM=4 uM for acetoacetyl coenzyme A ; KM=20 uM for coenzyme A ; KM=8 uM for 2-methylacetoacetyl coenzyme A ; KM=508 uM for acetyl coenzyme A ;
Catalytic Activity 2 acetyl-CoA = CoA + acetoacetyl-CoA. {ECO
Disease 3-ketothiolase deficiency (3KTD) [MIM
Enzyme Regulation Activated by potassium ions, but not sodium ions.
Function Plays a major role in ketone body metabolism.
Ptm Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
Similarity Belongs to the thiolase family.
Subcellular Location Mitochondrion.
Subunit Homotetramer.

Identical and Related Proteins

Unique RefSeq proteins for LMP000040 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4557237 RefSeq NP_000010 427 acetyl-CoA acetyltransferase, mitochondrial precursor

Identical Sequences to LMP000040 proteins

Reference Database Accession Length Protein Name
GI:4557237 GenBank JAA11007.1 427 acetyl-CoA acetyltransferase 1 [Pan troglodytes]
GI:4557237 GenBank JAA12819.1 427 acetyl-CoA acetyltransferase 1 [Pan troglodytes]
GI:4557237 GenBank JAA44124.1 427 acetyl-CoA acetyltransferase 1 [Pan troglodytes]
GI:4557237 GenBank AGD01541.1 427 Sequence 1064 from patent US 8338124
GI:4557237 GenBank AHD74436.1 427 Sequence 14453 from patent US 8586006
GI:4557237 RefSeq XP_003828394.1 427 PREDICTED: acetyl-CoA acetyltransferase, mitochondrial [Pan paniscus]

Related Sequences to LMP000040 proteins

Reference Database Accession Length Protein Name
GI:4557237 DBBJ BAA01387.1 427 mitochondrial acetoacetyl-CoA thiolase [Homo sapiens]
GI:4557237 RefSeq XP_002822478.1 427 PREDICTED: acetyl-CoA acetyltransferase, mitochondrial [Pongo abelii]
GI:4557237 RefSeq XP_003253143.1 427 PREDICTED: acetyl-CoA acetyltransferase, mitochondrial [Nomascus leucogenys]
GI:4557237 RefSeq XP_003910695.1 427 PREDICTED: acetyl-CoA acetyltransferase, mitochondrial [Papio anubis]
GI:4557237 RefSeq XP_008018937.1 427 PREDICTED: acetyl-CoA acetyltransferase, mitochondrial [Chlorocebus sabaeus]
GI:4557237 RefSeq XP_010359152.1 427 PREDICTED: acetyl-CoA acetyltransferase, mitochondrial [Rhinopithecus roxellana]