ACAA1

Acetyl-CoA acyltransferase 1
PDB rendering based on 2iik.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2IIK
Identifiers
Symbols	ACAA1 ; ACAA; PTHIO; THIO
External IDs	OMIM: 604054 MGI: 2148491 HomoloGene: 37497 GeneCards: ACAA1 Gene
EC number	2.3.1.16
Gene ontology Molecular function • acetyl-CoA C-acyltransferase activity • protein binding • palmitoyl-CoA oxidase activity Cellular component • peroxisome • peroxisomal matrix • membrane • intracellular membrane-bounded organelle Biological process • very long-chain fatty acid metabolic process • fatty acid beta-oxidation • bile acid metabolic process • fatty acid beta-oxidation using acyl-CoA oxidase • unsaturated fatty acid metabolic process • alpha-linolenic acid metabolic process • cellular lipid metabolic process • small molecule metabolic process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	30	113868
Ensembl	ENSG00000060971	ENSMUSG00000036138
UniProt	P09110	Q921H8
RefSeq (mRNA)	NM_001130410	NM_130864
RefSeq (protein)	NP_001123882	NP_570934
Location (UCSC)	Chr 3: 38.1 – 38.14 Mb	Chr 9: 119.34 – 119.35 Mb
PubMed search

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.^[1][2][3]

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

Function

This gene encodes an enzyme operative in the beta oxidation system of the peroxisomes.^[1]

Clinical significance

Deficiency of this enzyme leads to pseudo-Zellweger syndrome.^[1]

References

1. "Entrez Gene: acetyl-Coenzyme A acyltransferase 1".
2. 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.
3. 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.

Further reading

• Lawrence JW, Li Y, Chen S; et al. (2001). "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 expression". J. Biol. Chem. 276 (34): 31521–7. doi:10.1074/jbc.M103306200. PMID 11418601.
• Patel S, Woods DR, Macleod NJ; et al. (2003). "Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia". Eur. Respir. J. 22 (5): 755–60. doi:10.1183/09031936.03.00086402. PMID 14621081.
• Yu W, Andersson B, Worley KC; et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Fujiwara C, Imamura A, Hashiguchi N; et al. (2000). "Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder". J. Biol. Chem. 275 (47): 37271–7. doi:10.1074/jbc.M006347200. PMID 10960480.
• Bout A, Teunissen Y, Hashimoto T; et al. (1988). "Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase". Nucleic Acids Res. 16 (21): 10369. doi:10.1093/nar/16.21.10369. PMC 338871. PMID 3194209.
• Barbe L, Lundberg E, Oksvold P; et al. (2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell Proteomics 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
• Ottone F, Raimondi E, Rocchi M; et al. (1995). "Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22". Hum. Hered. 45 (2): 75–9. doi:10.1159/000154263. PMID 7750978.
• Park HC, Choi SR, Kim BS; et al. (2005). "Polymorphism of the ACE Gene in Dialysis Patients: Overexpression of DD Genotype in Type 2 Diabetic End-Stage Renal Failure Patients". Yonsei Med. J. 46 (6): 779–87. doi:10.3349/ymj.2005.46.6.779. PMC 2810591. PMID 16385653.
• Daigo Y, Isomura M, Nishiwaki T; et al. (1999). "Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3". DNA Res. 6 (1): 37–44. doi:10.1093/dnares/6.1.37. PMID 10231028.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Andersson B, Wentland MA, Ricafrente JY; et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Schram AW, Goldfischer S, van Roermund CW; et al. (1987). "Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency". Proc. Natl. Acad. Sci. U.S.A. 84 (8): 2494–6. doi:10.1073/pnas.84.8.2494. PMC 304678. PMID 2882519.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Wanders RJ, Waterham HR (2006). "Biochemistry of mammalian peroxisomes revisited". Annu. Rev. Biochem. 75: 295–332. doi:10.1146/annurev.biochem.74.082803.133329. PMID 16756494.
• Fairbairn LJ, Tanner MJ (1989). "Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl-CoA thiolase". Nucleic Acids Res. 17 (9): 3588. doi:10.1093/nar/17.9.3588. PMC 317802. PMID 2726492.
• Omi S, Nakata R, Okamura-Ikeda K; et al. (2008). "Contribution of peroxisome-specific isoform of Lon protease in sorting PTS1 proteins to peroxisomes". J. Biochem. 143 (5): 649–60. doi:10.1093/jb/mvn020. PMID 18281296.

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