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ACAT1 acetyl-CoA acetyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 38, updated on 8-Jul-2018
Official Symbol
ACAT1provided by HGNC
Official Full Name
acetyl-CoA acetyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:93
See related
Ensembl:ENSG00000075239 MIM:607809; Vega:OTTHUMG00000166381
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
T2; MAT; ACAT; THIL
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]
Annotation information
Note: ACAT1 (Gene ID: 38) and SOAT1 (Gene ID: 6646) share the ACAT1 symbol/alias in common. ACAT1 is a widely used alternative name for sterol O-acyltransferase 1 (SOAT1), which can be confused with the official symbol for ACAT1 (acetyl-CoA acetyltransferase 1, GeneID 38). [01 Jun 2018]
Expression
Broad expression in liver (RPKM 166.9), kidney (RPKM 164.2) and 24 other tissues See more
Orthologs
See ACAT1 in Genome Data Viewer
Location:
11q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (108116705..108148822)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (107992258..108018895)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RAB39A, member RAS oncogene family Neighboring gene cullin 5 Neighboring gene nuclear protein, coactivator of histone transcription Neighboring gene ATM serine/threonine kinase Neighboring gene chromosome 11 open reading frame 65

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of acetyl-CoA acetyltransferase 1 (ACAT1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetyl-CoA C-acetyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
acetyl-CoA C-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetyl-CoA C-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
acetyl-CoA C-acetyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acetyl-CoA C-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbon-carbon lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
coenzyme binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
ligase activity, forming carbon-carbon bonds IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acetyl-CoA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
acetyl-CoA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
coenzyme A biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
coenzyme A metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
isoleucine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
isoleucine catabolic process TAS
Traceable Author Statement
more info
PubMed 
ketone body biosynthetic process TAS
Traceable Author Statement
more info
 
ketone body catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ketone body catabolic process TAS
Traceable Author Statement
more info
 
ketone body metabolic process IC
Inferred by Curator
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
metanephric proximal convoluted tubule development IEA
Inferred from Electronic Annotation
more info
 
propionyl-CoA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
acetyl-CoA acetyltransferase, mitochondrial
Names
acetoacetyl Coenzyme A thiolase
acetoacetyl-CoA thiolase
acetyl-Coenzyme A acetyltransferase 1
mitochondrial acetoacetyl-CoA thiolase
testicular tissue protein Li 198
NP_000010.1
XP_006718898.1
XP_016873170.1
XP_016873171.1
XP_016873172.1
XP_024304279.1
XP_024304280.1
XP_024304281.1
XP_024304282.1
XP_024304283.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009888.1 RefSeqGene

    Range
    5001..31638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000019.3NP_000010.1  acetyl-CoA acetyltransferase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_000010.1

    Status: REVIEWED

    Source sequence(s)
    AP002433, AW081574, BM789408, D90228
    Consensus CDS
    CCDS8339.1
    UniProtKB/Swiss-Prot
    P24752
    UniProtKB/TrEMBL
    A0A140VJX1
    Related
    ENSP00000265838.4, OTTHUMP00000232753, ENST00000265838.8, OTTHUMT00000389474
    Conserved Domains (1) summary
    cd00751
    Location:43426
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    108116705..108148822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448512.1XP_024304280.1  acetyl-CoA acetyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  2. XM_017017681.1XP_016873170.1  acetyl-CoA acetyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  3. XM_017017682.2XP_016873171.1  acetyl-CoA acetyltransferase, mitochondrial isoform X2

  4. XM_017017683.2XP_016873172.1  acetyl-CoA acetyltransferase, mitochondrial isoform X2

  5. XM_006718835.3XP_006718898.1  acetyl-CoA acetyltransferase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006718898.1

    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  6. XM_024448513.1XP_024304281.1  acetyl-CoA acetyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  7. XM_024448511.1XP_024304279.1  acetyl-CoA acetyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  8. XM_024448514.1XP_024304282.1  acetyl-CoA acetyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  9. XM_024448515.1XP_024304283.1  acetyl-CoA acetyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
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