ACAA1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
2IIK

Identifiers

Aliases

ACAA1, ACAA, PTHIO, THIO, acetyl-CoA acyltransferase 1

External IDs

MGI: 2148491 HomoloGene: 37497 GeneCards: ACAA1

Gene ontology
Molecular function	• transferase activity • transferase activity, transferring acyl groups other than amino-acyl groups • protein binding • catalytic activity • palmitoyl-CoA oxidase activity • transferase activity, transferring acyl groups • acetate CoA-transferase activity • acetyl-CoA C-acyltransferase activity
Cellular component	• membrane • intracellular membrane-bounded organelle • peroxisome • peroxisomal matrix • extracellular region • specific granule lumen
Biological process	• lipid metabolic process • 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 • metabolic process • neutrophil degranulation
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


30


113868

Ensembl


ENSG00000060971


ENSMUSG00000036138

UniProt


P09110


Q921H8

RefSeq (mRNA)


NM_001130410 NM_001607


NM_130864

RefSeq (protein)


NP_001123882 NP_001598 NP_001598.1


NP_570934

Location (UCSC)

Chr 3: 38.1 – 38.14 Mb

Chr 9: 119.34 – 119.35 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

View/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.^[3]^[4]^[5]

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.^[3]

Clinical significance

Deficiency of this enzyme leads to pseudo-Zellweger syndrome.^[3]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
1 2 3 "Entrez Gene: acetyl-Coenzyme A acyltransferase 1".
↑ 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. PMID 2630187. doi:10.1159/000132865.
↑ 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. PMID 1679347. doi:10.1016/0167-4781(91)90035-k.

External links

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

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. PMID 11418601. doi:10.1074/jbc.M103306200.
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. PMID 14621081. doi:10.1183/09031936.03.00086402.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. PMC 139146 . PMID 9110174. doi:10.1101/gr.7.4.353.
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. PMID 10960480. doi:10.1074/jbc.M006347200.
Bout A, Teunissen Y, Hashimoto T, et al. (1988). "Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase". Nucleic Acids Res. 16 (21): 10369. PMC 338871 . PMID 3194209. doi:10.1093/nar/16.21.10369.
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. PMID 18029348. doi:10.1074/mcp.M700325-MCP200.
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. PMID 7750978. doi:10.1159/000154263.
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. PMC 2810591 . PMID 16385653. doi:10.3349/ymj.2005.46.6.779.
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. PMID 10231028. doi:10.1093/dnares/6.1.37.
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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. PMID 8619474. doi:10.1006/abio.1996.0138.
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. PMC 304678 . PMID 2882519. doi:10.1073/pnas.84.8.2494.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
Wanders RJ, Waterham HR (2006). "Biochemistry of mammalian peroxisomes revisited". Annu. Rev. Biochem. 75: 295–332. PMID 16756494. doi:10.1146/annurev.biochem.74.082803.133329.
Fairbairn LJ, Tanner MJ (1989). "Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl-CoA thiolase". Nucleic Acids Res. 17 (9): 3588. PMC 317802 . PMID 2726492. doi:10.1093/nar/17.9.3588.
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. PMID 18281296. doi:10.1093/jb/mvn020.

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ACAA1

Function

Clinical significance

References

External links

Further reading