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Aliases for ACAA1 Gene

Aliases for ACAA1 Gene

  • Acetyl-CoA Acyltransferase 1 2 3
  • 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 2.3.1.16 4 63
  • PTHIO 3 4
  • ACAA 3 4
  • 3-Ketoacyl-CoA Thiolase, Peroxisomal 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 thiolase deficiency and ketothiolase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include acetyl-CoA C-acyltransferase activity and palmitoyl-CoA oxidase activity.

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

Genomic Location for ACAA1 Gene

Start:
38,103,129 bp from pter
End:
38,137,242 bp from pter
Size:
34,114 bases
Orientation:
Minus strand

Genomic View for ACAA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P09110-THIK_HUMAN
    Recommended name:
    3-ketoacyl-CoA thiolase, peroxisomal
    Protein Accession:
    P09110
    Secondary Accessions:
    • G5E935
    • Q96CA6

    Protein attributes for ACAA1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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 for ACAA1 Gene

Graphical View of Domain Structure for InterPro Entry

P09110

UniProtKB/Swiss-Prot:

THIK_HUMAN :
  • P09110
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:0003824 catalytic activity --
GO:0003988 acetyl-CoA C-acyltransferase activity IEA --
GO:0005515 protein binding IPI 18281296
GO:0016401 palmitoyl-CoA oxidase activity IMP 2882519
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups --
genes like me logo Genes that share ontologies with ACAA1: view
genes like me logo Genes that share phenotypes with ACAA1: view

miRNA for ACAA1 Gene

miRTarBase miRNAs that target ACAA1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ACAA1 Gene

Localization for ACAA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAA1 Gene

Peroxisome.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for ACAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 1347505
GO:0005782 peroxisomal matrix TAS --
GO:0016020 membrane IDA 19946888
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ACAA1: view

Pathways 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:0000038 very long-chain fatty acid metabolic process IMP 2318981
GO:0006635 fatty acid beta-oxidation IMP 2365812
GO:0008152 metabolic process --
GO:0008206 bile acid metabolic process IMP 2318981
GO:0008610 lipid biosynthetic process --
genes like me logo Genes that share ontologies with ACAA1: view

Compounds for ACAA1 Gene

(58) HMDB Compounds for ACAA1 Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(3) Novoseek inferred chemical compound relationships for ACAA1 Gene

Compound -log(P) Hits PubMed IDs
3-oxoacyl-coa 98 7
acaa 91.5 5
phytanic acid 80.3 1
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: - -
SP14:
SP15: -
SP16:
SP17: - - -
SP18: - - - -
SP19:

ExUns: 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10:
SP11: - - -
SP12: - - -
SP13:
SP14:
SP15: - - -
SP16:
SP17:
SP18:
SP19:

Relevant External Links for ACAA1 Gene

GeneLoc Exon Structure for
ACAA1
ECgene alternative splicing isoforms for
ACAA1

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 (7.4) and Whole Blood (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACAA1 Gene

SOURCE GeneReport for Unigene cluster for ACAA1 Gene Hs.643487

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

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
chimpanzee
(Pan troglodytes)
Mammalia ACAA1 35
  • 99.84 (n)
  • 100 (a)
ACAA1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACAA1 35
  • 89.47 (n)
  • 91.51 (a)
ACAA1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAA1 35
  • 90.8 (n)
  • 92.22 (a)
ACAA1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acaa1a 35
  • 85.06 (n)
  • 85.61 (a)
Acaa1a 16
Acaa1a 36
  • 85 (a)
OneToMany
Acaa1b 36
  • 86 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ACAA1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACAA1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acaa1b 35
  • 85.14 (n)
  • 86.56 (a)
chicken
(Gallus gallus)
Aves ACAA1 35
  • 74.51 (n)
  • 80.29 (a)
ACAA1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAA1 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia acaa1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia acaa1 35
  • 69.93 (n)
  • 76.13 (a)
zebrafish
(Danio rerio)
Actinopterygii acaa1 35
  • 66.67 (n)
  • 73.14 (a)
acaa1 36
  • 73 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POT1 36
  • 51 (a)
OneToOne
POT1 38
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5310 35
rice
(Oryza sativa)
Liliopsida Os10g0457600 35
  • 57.38 (n)
  • 57.86 (a)
wheat
(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

ENSEMBL:
Gene Tree for ACAA1 (if available)
TreeFam:
Gene Tree for ACAA1 (if available)

Paralogs for ACAA1 Gene

Selected SIMAP similar genes for ACAA1 Gene using alignment to 8 proteins:

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

No data available for Paralogs for ACAA1 Gene

Variants for ACAA1 Gene

Sequence variations from dbSNP and Humsavar for ACAA1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs104650 -- 38,130,843(+) CAATG(C/G/T)GTCCT intron-variant
rs156265 - 38,129,319(+) GCCTT(C/G)TCCTT intron-variant, missense, reference, nc-transcript-variant
rs199413 -- 38,135,465(+) ACCAT(A/T)ACTAT intron-variant
rs199414 -- 38,132,451(+) AGGGA(A/C)CACTC intron-variant
rs199415 -- 38,132,442(+) TCTGA(A/G)GCCAG intron-variant

Relevant External Links for ACAA1 Gene

HapMap Linkage Disequilibrium report
ACAA1
Human Gene Mutation Database (HGMD)
ACAA1

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

MalaCards: The human disease database. (3) Diseases for ACAA1 Gene including...

Search for ACAA1 Gene in MalaCards »

(1) Novoseek inferred disease relationships for ACAA1 Gene

Disease -log(P) Hits PubMed IDs
chondrodysplasia punctata 87.3 1

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)
ACAA1
Human Genome Epidemiology (HuGE) Navigator
ACAA1
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
  2. Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. (PMID: 2318981) Clayton P.T. … Collins J. (J. Clin. Invest. 1990) 3 23
  3. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. (PMID: 2365812) Heikoop J.C. … Tager J.M. (J. Clin. Invest. 1990) 3 23
  4. Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22. (PMID: 7750978) Ottone F. … Tenchini M.L. (Hum. Hered. 1995) 3 23
  5. 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

Products for ACAA1 Gene

  • Addgene plasmids for ACAA1

Sources for ACAA1 Gene

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