ACAA1 (original) (raw)

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Protein-coding gene in the species Homo sapiens

ACAA1
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes2IIK
Identifiers
Aliases ACAA1, ACAA, PTHIO, THIO, acetyl-CoA acyltransferase 1, Lnc-Myd88
External IDs OMIM: 604054; MGI: 2148491; HomoloGene: 37497; GeneCards: ACAA1; OMA:ACAA1 - orthologs
Gene location (Human)Chromosome 3 (human)Chr.Chromosome 3 (human)[1]Chromosome 3 (human)Genomic location for ACAA1Genomic location for ACAA1Band3p22.2Start38,103,129 bp[1]End38,137,242 bp[1]
Gene location (Mouse)Chromosome 9 (mouse)Chr.Chromosome 9 (mouse)[2]Chromosome 9 (mouse)Genomic location for ACAA1Genomic location for ACAA1Band9 F3|9 71.33 cMStart119,168,742 bp[2]End119,179,365 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed injejunal mucosaright lobe of livermucosa of transverse colonduodenumkidney tubulehuman kidneyrenal medullaapex of heartgranulocytebody of pancreasTop expressed inIleal epitheliumlipright kidneychoroid plexus of fourth ventriclemotor neuronaortic valveinterventricular septumcorneal stromaascending aortafossaMore reference expression dataBioGPSn/a
Gene ontologyMolecular function transferase activity acyltransferase activity, transferring groups other than amino-acyl groups protein binding catalytic activity palmitoyl-CoA oxidase activity acyltransferase activity acetate CoA-transferase activity acetyl-CoA C-acyltransferase activity Cellular component membrane intracellular membrane-bounded organelle peroxisome peroxisomal matrix extracellular region specific granule lumen cytosol Biological process lipid metabolism bile acid metabolic process alpha-linolenic acid metabolic process very long-chain fatty acid metabolic process fatty acid metabolic process fatty acid beta-oxidation using acyl-CoA oxidase fatty acid beta-oxidation metabolism neutrophil degranulation protein targeting to peroxisome phenylacetate catabolic process Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez30113868EnsemblENSG00000060971ENSMUSG00000036138UniProtP09110Q921H8RefSeq (mRNA)NM_001130410NM_001607NM_130864NM_001357516RefSeq (protein)NP_001123882NP_001598NP_001598.1NP_570934NP_001344445Location (UCSC)Chr 3: 38.1 – 38.14 MbChr 9: 119.17 – 119.18 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

3-Ketoacyl-CoA thiolase, peroxisomal also known as acetyl-Coenzyme A acyltransferase 1 is an enzyme that in humans is encoded by the ACAA1 gene.[5][6][7]

Acetyl-Coenzyme A acyltransferase 1 is an acetyl-CoA C-acyltransferase enzyme.

This gene encodes an enzyme operative in the beta oxidation system of the peroxisomes.[5]

Clinical significance

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Deficiency of this enzyme leads to pseudo-Zellweger syndrome.[5]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000060971 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036138 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: acetyl-Coenzyme A acyltransferase 1".
  6. ^ Bout A, Hoovers JM, Bakker E, Mannens MM, Geurts van Kessel A, Westerveld A, Tager JM, Benne R (1989). "Assignment of the gene coding for human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to chromosome region 3p22----p23". Cytogenet. Cell Genet. 52 (3–4): 147–50. doi:10.1159/000132865. PMID 2630187.
  7. ^ Bout A, Franse MM, Collins J, Blonden L, Tager JM, Benne R (August 1991). "Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient". Biochim. Biophys. Acta. 1090 (1): 43–51. doi:10.1016/0167-4781(91)90035-k. PMID 1679347.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.