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

Gene ID: 30, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See ACAA1 in Genome Data Viewer
Location:
3p22.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (38122715..38137127, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (38128384..38142796, complement)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer. Peng WT, et al. Cancer Res, 2023 May 15. PMID 37129951
  2. Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1. Sordillo JE, et al. BMC Med Genet, 2011 Dec 8. PMID 22151743, Free PMC Article
  3. Differential gene regulation in human versus rodent hepatocytes by peroxisome proliferator-activated receptor (PPAR) alpha. PPAR alpha fails to induce peroxisome proliferation-associated genes in human cells independently of the level of receptor expresson. Lawrence JW, et al. J Biol Chem, 2001 Aug 24. PMID 11418601
  4. Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22. Ottone F, et al. Hum Hered, 1995 Mar-Apr. PMID 7750978
  5. Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase. Bout A, et al. Nucleic Acids Res, 1988 Nov 11. PMID 3194209, Free PMC Article

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Clinical phenotypic and genotypic analysis of 5 pediatric patients with beta-ketothiolase deficiency].
    Title: [Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency].
  2. Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.
    Title: Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.
  3. A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-beta pathology and cognitive decline.
    Title: A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
  4. Findings suggest that protective effects of endotoxin exposure on asthma may vary depending upon the presence or absence of a polymorphism in ACAA1.
    Title: Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1.
  5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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_001130410.2 → NP_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:1 → 327
    Thiolase_N; Thiolase, N-terminal domain

  2. NM_001607.4 → NP_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:1 → 420
    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_2024_08

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_006713122.1 → XP_006713185.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X1

    UniProtKB/TrEMBL
    C9JDE9
    Conserved Domains (2) summary
    PLN02287
    Location:1 → 360
    PLN02287; 3-ketoacyl-CoA thiolase
    cd00751
    Location:39 → 361
    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_047448057.1 → XP_047304013.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X3

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

    UniProtKB/TrEMBL
    Q8NCW8
    Conserved Domains (1) summary
    cd00751
    Location:1 → 276
    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_054346392.1 → XP_054202367.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X1

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P09110.2 GenPept UniProtKB/Swiss-Prot:P09110

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