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

    Gene ID: 30, updated on 21-Apr-2019

    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
    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
    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

    Genomic context

    See ACAA1 in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (38122710..38137242, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38164201..38178733, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene DLEC1 cilia and flagella associated protein Neighboring gene protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 Neighboring gene uncharacterized LOC105377033 Neighboring gene uncharacterized LOC101928234 Neighboring gene MYD88 innate immune signal transduction adaptor 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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetate CoA-transferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    acetyl-CoA C-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    palmitoyl-CoA oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    alpha-linolenic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    bile acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA oxidase TAS
    Traceable Author Statement
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    protein targeting to peroxisome TAS
    Traceable Author Statement
    more info
     
    very long-chain fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane HDA PubMed 
    peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    3-ketoacyl-CoA thiolase, peroxisomal
    Names
    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_006713186.1
    XP_011531952.1

    NCBI Reference Sequences (RefSeq)

    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
      5001..19533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130410.1NP_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, DC379687
      Consensus CDS
      CCDS46794.1
      UniProtKB/Swiss-Prot
      P09110
      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
      P09110
      UniProtKB/TrEMBL
      A0A024R2M6
      Related
      ENSP00000333664.8, ENST00000333167.13
      Conserved Domains (1) summary
      cl27751
      Location:1420
      Thiolase_N; Thiolase, N-terminal domain

    RNA

    1. NR_024024.1 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, DC379687
      Related
      ENST00000411549.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      38122710..38137242 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713123.2XP_006713186.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X3

      Conserved Domains (1) summary
      cd00751
      Location:1269
      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_011533650.2XP_011531952.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X2

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

      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 ...
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