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

    Gene ID: 38, updated on 11-Jul-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See ACAT1 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (108116705..108148822)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (107987432..108018330)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RAB39A, member RAS oncogene family Neighboring gene Sharpr-MPRA regulatory region 4319 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables acetyl-CoA C-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables acetyl-CoA C-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables acetyl-CoA C-acetyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables coenzyme A binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables potassium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in acetyl-CoA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol esterification TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in coenzyme A biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in coenzyme A metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in isoleucine catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in isoleucine catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in ketone body catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ketone body metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric proximal convoluted tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in propionyl-CoA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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
    NP_001373606.1
    NP_001373607.1
    NP_001373608.1
    NP_001373610.1
    NP_001373611.1
    NP_001373614.1
    NP_001373615.1
    NP_001373616.1
    NP_001373617.1
    NP_001373618.1
    NP_001373619.1
    NP_001373620.1
    XP_016873171.1
    XP_024304282.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009888.2 RefSeqGene

      Range
      9863..35899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1400

    mRNA and Protein(s)

    1. NM_000019.4NP_000010.1  acetyl-CoA acetyltransferase, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_000010.1

      Status: REVIEWED

      Source sequence(s)
      AW081574, D90228
      Consensus CDS
      CCDS8339.1
      UniProtKB/Swiss-Prot
      P24752
      UniProtKB/TrEMBL
      A0A140VJX1
      Related
      ENSP00000265838.4, ENST00000265838.9
      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 ...
    2. NM_001386677.1NP_001373606.1  acetyl-CoA acetyltransferase, mitochondrial isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AP002433
      Related
      ENSP00000500490.1, ENST00000672354.1
      Conserved Domains (1) summary
      cd00751
      Location:43433
      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. NM_001386678.1NP_001373607.1  acetyl-CoA acetyltransferase, mitochondrial isoform c

      Status: REVIEWED

      Source sequence(s)
      AP002433
      Related
      ENSP00000500928.1, ENST00000672907.1
      Conserved Domains (1) summary
      cd00751
      Location:41321
      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 ...
    4. NM_001386679.1NP_001373608.1  acetyl-CoA acetyltransferase, mitochondrial isoform d

      Status: REVIEWED

      Source sequence(s)
      AP002433
      Conserved Domains (1) summary
      cd00751
      Location:10327
      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 ...
    5. NM_001386681.1NP_001373610.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 6-13, encodes isoform e.
      Source sequence(s)
      AP002433
      Related
      ENSP00000500444.1, ENST00000672284.1
      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. NM_001386682.1NP_001373611.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 5 and 7-13, encodes isoform e.
      Source sequence(s)
      AP002433
      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. NM_001386685.1NP_001373614.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 5, 6, and 8-13, encodes isoform e.
      Source sequence(s)
      AP002433
      Related
      ENSP00000500163.1, ENST00000673531.1
      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 ...
    8. NM_001386686.1NP_001373615.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 5-7 and 9-13, encodes isoform e.
      Source sequence(s)
      AP002433
      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. NM_001386687.1NP_001373616.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 5-8 and 10-13, encodes isoform e.
      Source sequence(s)
      AP002433
      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 ...
    10. NM_001386688.1NP_001373617.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 5-9 and 11-13, encodes isoform e.
      Source sequence(s)
      AP002433
      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 ...
    11. NM_001386689.1NP_001373618.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 5-10, 12, and 13, encodes isoform e.
      Source sequence(s)
      AP002433
      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 ...
    12. NM_001386690.1NP_001373619.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 5-11 and 13, encodes isoform e.
      Source sequence(s)
      AP002433
      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 ...
    13. NM_001386691.1NP_001373620.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 5-12, encodes isoform e.
      Source sequence(s)
      AP002433
      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 ...

    RNA

    1. NR_170162.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP002433
      Related
      ENST00000672031.1
    2. NR_170163.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP002433

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017017682.2XP_016873171.1  acetyl-CoA acetyltransferase, mitochondrial isoform X2

    2. 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 ...
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