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    ACAA1 acetyl-CoA acyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 30, updated on 3-Apr-2024

    Summary

    Official Symbol
    ACAA1provided by HGNC
    Official Full Name
    acetyl-CoA acyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:82
    See related
    Ensembl:ENSG00000060971 MIM:604054; AllianceGenome:HGNC:82
    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
    ACAA; THIO; PTHIO; Lnc-Myd88
    Summary
    This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 125.0), kidney (RPKM 97.3) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACAA1 in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (38122715..38137127, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (38128384..38142796, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38164206..38178618, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38094034-38094878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19678 Neighboring gene protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 Neighboring gene DLEC1 cilia and flagella associated protein Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:38124731-38125295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38139347-38139846 Neighboring gene uncharacterized LOC105377033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38152870-38153688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38158759-38159717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38179733-38180676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38196601-38197102 Neighboring gene uncharacterized LOC101928234 Neighboring gene MYD88 innate immune signal transduction adaptor Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:38205703-38206902 Neighboring gene oxidative stress responsive kinase 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetate CoA-transferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables acetyl-CoA C-acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables acetyl-CoA C-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables acetyl-CoA C-acyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables acetyl-CoA C-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables acetyl-CoA C-myristoyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables palmitoyl-CoA oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in alpha-linolenic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in bile acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bile acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fatty acid beta-oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid beta-oxidation using acyl-CoA oxidase IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid beta-oxidation using acyl-CoA oxidase TAS
    Traceable Author Statement
    more info
     
    involved_in phenylacetate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in very long-chain fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    3-ketoacyl-CoA thiolase, peroxisomal
    Names
    acetyl-CoA C-myristoyltransferase
    acetyl-Coenzyme A acyltransferase 1
    beta-ketothiolase
    epididymis secretory sperm binding protein
    peroxisomal 3-oxoacyl-CoA thiolase
    peroxisomal 3-oxoacyl-Coenzyme A thiolase
    testicular tissue protein Li 197
    NP_001123882.1
    NP_001598.1
    XP_006713185.1
    XP_011531952.1
    XP_047304013.1
    XP_054202367.1
    XP_054202368.1
    XP_054202369.1

    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_023225.1 RefSeqGene

      Range
      5116..19528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130410.2NP_001123882.1  3-ketoacyl-CoA thiolase, peroxisomal isoform b

      See identical proteins and their annotated locations for NP_001123882.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      BC011977, BC014474, DC312566
      Consensus CDS
      CCDS46794.1
      UniProtKB/TrEMBL
      A0A140VJX0
      Related
      ENSP00000301810.7, ENST00000301810.11
      Conserved Domains (1) summary
      cl27751
      Location:1327
      Thiolase_N; Thiolase, N-terminal domain
    2. NM_001607.4NP_001598.1  3-ketoacyl-CoA thiolase, peroxisomal isoform a

      See identical proteins and their annotated locations for NP_001598.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC011977, DC312566
      Consensus CDS
      CCDS2673.1
      UniProtKB/Swiss-Prot
      G5E935, P09110, Q96CA6
      UniProtKB/TrEMBL
      A0A024R2M6, A0A384NL32, C9JDE9
      Related
      ENSP00000333664.8, ENST00000333167.13
      Conserved Domains (1) summary
      cl27751
      Location:1420
      Thiolase_N; Thiolase, N-terminal domain

    RNA

    1. NR_024024.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AF035295, BC011977, BC039837, DC312566
      Related
      ENST00000411549.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      38122715..38137127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713122.1XP_006713185.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X1

      UniProtKB/TrEMBL
      C9JDE9
      Conserved Domains (2) summary
      PLN02287
      Location:1360
      PLN02287; 3-ketoacyl-CoA thiolase
      cd00751
      Location:39361
      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_047448057.1XP_047304013.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X3

    3. XM_011533650.3XP_011531952.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X2

      UniProtKB/TrEMBL
      Q8NCW8
      Conserved Domains (1) summary
      cd00751
      Location:1276
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      38128384..38142796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346392.1XP_054202367.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X1

    2. XM_054346394.1XP_054202369.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X3

    3. XM_054346393.1XP_054202368.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X2