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Aliases for ACAA1 Gene

Aliases for ACAA1 Gene

  • Acetyl-CoA Acyltransferase 1 2 3 5
  • Peroxisomal 3-Oxoacyl-Coenzyme A Thiolase 2 3
  • Acetyl-Coenzyme A Acyltransferase 1 2 3
  • Peroxisomal 3-Oxoacyl-CoA Thiolase 3 4
  • Beta-Ketothiolase 3 4
  • EC 4 63
  • PTHIO 3 4
  • ACAA 3 4
  • Testicular Tissue Protein Li 197 3
  • Acetyl-CoA Acyltransferase 4
  • EC 2.3.1 63
  • THIO 3

External Ids for ACAA1 Gene

Previous GeneCards Identifiers for ACAA1 Gene

  • GC03M037452
  • GC03M037977
  • GC03M038124
  • GC03M038139
  • GC03M038164

Summaries for ACAA1 Gene

Entrez Gene Summary for ACAA1 Gene

  • 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]

GeneCards Summary for ACAA1 Gene

ACAA1 (Acetyl-CoA Acyltransferase 1) is a Protein Coding gene. Diseases associated with ACAA1 include Chondrodysplasia Punctata. Among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Peroxisomal lipid metabolism. GO annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and palmitoyl-CoA oxidase activity. An important paralog of this gene is HADHB.

Gene Wiki entry for ACAA1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAA1 Gene

Genomics for ACAA1 Gene

Regulatory Elements for ACAA1 Gene

Enhancers for ACAA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACAA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACAA1 Gene

38,103,129 bp from pter
38,137,242 bp from pter
34,114 bases
Minus strand

Genomic View for ACAA1 Gene

Genes around ACAA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAA1 Gene

Proteins for ACAA1 Gene

  • Protein details for ACAA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    3-ketoacyl-CoA thiolase, peroxisomal
    Protein Accession:
    Secondary Accessions:
    • G5E935
    • Q96CA6

    Protein attributes for ACAA1 Gene

    424 amino acids
    Molecular mass:
    44292 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ACAA1 Gene

    Alternative splice isoforms for ACAA1 Gene


neXtProt entry for ACAA1 Gene

Proteomics data for ACAA1 Gene at MOPED

Post-translational modifications for ACAA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACAA1 Gene

Protein Domains for ACAA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the thiolase family.
  • Belongs to the thiolase family.
genes like me logo Genes that share domains with ACAA1: view

No data available for Gene Families for ACAA1 Gene

Function for ACAA1 Gene

Molecular function for ACAA1 Gene

GENATLAS Biochemistry:
acetyl-CoA acyltransferase,(peroxisomal matrix 3-oxoacyl-CoA thiolase),medium or long chain,catalyzing the fourth step of fatty acid beta-oxidation,expressed
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.
UniProtKB/Swiss-Prot Induction:
Peroxisomal thiolase is markedly induced (at the level of transcription) by various hypolipidemic compounds in parallel with the other two enzymes of the peroxisomal beta-oxidation system.

Enzyme Numbers (IUBMB) for ACAA1 Gene

Gene Ontology (GO) - Molecular Function for ACAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008775 acetate CoA-transferase activity EXP 11734571
genes like me logo Genes that share ontologies with ACAA1: view
genes like me logo Genes that share phenotypes with ACAA1: view

Animal Models for ACAA1 Gene

MGI Knock Outs for ACAA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACAA1

CRISPR Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACAA1 Gene

Localization for ACAA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAA1 Gene


Subcellular locations from

Jensen Localization Image for ACAA1 Gene COMPARTMENTS Subcellular localization image for ACAA1 gene
Compartment Confidence
peroxisome 5
mitochondrion 3
cytosol 2
chloroplast 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ACAA1: view

Pathways & Interactions for ACAA1 Gene

genes like me logo Genes that share pathways with ACAA1: view

UniProtKB/Swiss-Prot P09110-THIK_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism.

Gene Ontology (GO) - Biological Process for ACAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008206 bile acid metabolic process IMP 2318981
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase TAS --
GO:0033559 unsaturated fatty acid metabolic process TAS --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with ACAA1: view

No data available for SIGNOR curated interactions for ACAA1 Gene

Drugs & Compounds for ACAA1 Gene

(6) Drugs for ACAA1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetyl-CoA Experimental Pharma 0
myristoyl-coa Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0
Coenzyme A Nutra 0

(60) Additional Compounds for ACAA1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+)-7-Isojasmonic acid CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
genes like me logo Genes that share compounds with ACAA1: view

Transcripts for ACAA1 Gene

Unigene Clusters for ACAA1 Gene

Acetyl-CoA acyltransferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACAA1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - -
SP8: -
SP9: - -
SP10: - - - - - - - -
SP11: - - - -
SP12: -
SP13: - -
SP15: -
SP17: - - -
SP18: - - - -

ExUns: 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d
SP9: - - -
SP11: - - -
SP12: - - -
SP15: - - -

Relevant External Links for ACAA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACAA1 Gene

mRNA expression in normal human tissues for ACAA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACAA1 Gene

This gene is overexpressed in Liver (x7.4) and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for ACAA1 Gene

This gene is overexpressed in Fetal Liver (22.6), Liver, secretome (6.5), and Kidney (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ACAA1 Gene

SOURCE GeneReport for Unigene cluster for ACAA1 Gene Hs.643487

genes like me logo Genes that share expression patterns with ACAA1: view

Protein tissue co-expression partners for ACAA1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ACAA1 Gene

Orthologs for ACAA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACAA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ACAA1 35
  • 89.47 (n)
  • 91.51 (a)
ACAA1 36
  • 91 (a)
(Canis familiaris)
Mammalia ACAA1 35
  • 90.8 (n)
  • 92.22 (a)
ACAA1 36
  • 91 (a)
(Mus musculus)
Mammalia Acaa1a 35
  • 85.06 (n)
  • 85.61 (a)
Acaa1a 16
Acaa1a 36
  • 85 (a)
Acaa1b 36
  • 86 (a)
(Pan troglodytes)
Mammalia ACAA1 35
  • 99.84 (n)
  • 100 (a)
ACAA1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Acaa1b 35
  • 85.14 (n)
  • 86.56 (a)
(Monodelphis domestica)
Mammalia ACAA1 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia ACAA1 36
  • 72 (a)
(Gallus gallus)
Aves ACAA1 35
  • 74.51 (n)
  • 80.29 (a)
ACAA1 36
  • 78 (a)
(Anolis carolinensis)
Reptilia ACAA1 36
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acaa1 35
  • 69.93 (n)
  • 76.13 (a)
African clawed frog
(Xenopus laevis)
Amphibia acaa1-prov 35
(Danio rerio)
Actinopterygii acaa1 35
  • 66.67 (n)
  • 73.14 (a)
acaa1 36
  • 73 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POT1 36
  • 51 (a)
POT1 38
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5310 35
(Oryza sativa)
Liliopsida Os10g0457600 35
  • 57.38 (n)
  • 57.86 (a)
(Triticum aestivum)
Liliopsida Ta.28367 35
Species with no ortholog for ACAA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for ACAA1 Gene

Gene Tree for ACAA1 (if available)
Gene Tree for ACAA1 (if available)

Paralogs for ACAA1 Gene

Paralogs for ACAA1 Gene

(4) SIMAP similar genes for ACAA1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ACAA1: view

Variants for ACAA1 Gene

Sequence variations from dbSNP and Humsavar for ACAA1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs156265 - 38,129,319(+) GCCTT(C/G/T)TCCTT intron-variant, nc-transcript-variant, reference, missense
rs2229528 - 38,125,604(-) ACAGG(C/T)CATCA nc-transcript-variant, reference, missense
rs104650 -- 38,130,843(+) CAATG(C/G/T)GTCCT intron-variant
rs1057408 -- 38,131,960(-) CAGTG(C/T)TCGTC nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime
rs199413 -- 38,135,465(+) ACCAT(A/T)ACTAT intron-variant, upstream-variant-2KB

Variation tolerance for ACAA1 Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.88; 79.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAA1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ACAA1 Gene

Disorders for ACAA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACAA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia punctata
  • chondrodysplasia calcificans congenita
- elite association - COSMIC cancer census association via MalaCards
Search ACAA1 in MalaCards View complete list of genes associated with diseases

Genatlas disease for ACAA1 Gene

pseudo Zellweger syndrome with abundant peroxisomes and normal plasmalogen biosynthesis (ACAA deficiency)

Relevant External Links for ACAA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ACAA1: view

No data available for UniProtKB/Swiss-Prot for ACAA1 Gene

Publications for ACAA1 Gene

  1. Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient. (PMID: 1679347) Bout A. … Benne R. (Biochim. Biophys. Acta 1991) 3 4 23 67
  2. 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. (PMID: 11418601) Lawrence J.W. … Zhou G. (J. Biol. Chem. 2001) 3 23
  3. Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22. (PMID: 7750978) Ottone F. … Tenchini M.L. (Hum. Hered. 1995) 3 23
  4. Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. (PMID: 1347505) Heikoop J.C. … Tager J.M. (FEBS Lett. 1992) 3 23
  5. Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. (PMID: 2318981) Clayton P.T. … Collins J. (J. Clin. Invest. 1990) 3 23

Products for ACAA1 Gene

Sources for ACAA1 Gene