Contents

ACAA1

Protein-coding gene in the species Homo sapiens

ACAA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2IIK
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) Chr. Chromosome 3 (human)[1] Band 3p22.2 Start 38,103,129 bp[1] End 38,137,242 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F3|9 71.33 cM Start 119,168,742 bp[2] End 119,179,365 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa right lobe of liver mucosa of transverse colon duodenum kidney tubule human kidney renal medulla apex of heart granulocyte body of pancreas Top expressed in Ileal epithelium lip right kidney choroid plexus of fourth ventricle motor neuron aortic valve interventricular septum corneal stroma ascending aorta fossa More reference expression data BioGPS n/a
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 30 113868 Ensembl ENSG00000060971 ENSMUSG00000036138 UniProt P09110 Q921H8 RefSeq (mRNA) NM_001130410 NM_001607 NM_130864 NM_001357516 RefSeq (protein) NP_001123882 NP_001598 NP_001598.1 NP_570934 NP_001344445 Location (UCSC) Chr 3: 38.1 – 38.14 Mb Chr 9: 119.17 – 119.18 Mb PubMed search [3] [4]
Wikidata
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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.

Function[edit]

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

Clinical significance[edit]

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

References[edit]

External links[edit]

• Human ACAA1 genome location and ACAA1 gene details page in the UCSC Genome Browser.

Further reading[edit]

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

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.