Misplaced Pages

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) Band 3p22.2 Start 38,103,129 bp End 38,137,242 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9 F3|9 71.33 cM Start 119,168,742 bp End 119,179,365 bp
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
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.

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.

Clinical significance

Deficiency of this enzyme leads to pseudo-Zellweger syndrome.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000060971 – Ensembl, May 2017
2. ^ 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. ^ "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.

External links

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

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. Bibcode:1987PNAS...84.2494S. 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. Bibcode:2002PNAS...9916899M. 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.

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

• v
• t
• e

• Genes on human chromosome 3
• Human proteins
• Human chromosome 3 gene stubs