ACAA1

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
Gene location (Human)
Chr.	Chromosome 3 (human)
End	38,137,242 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	119,179,365 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; right lobe of liver; ; duodenum; ; kidney tubule; ; kidney; ; renal medulla; ; body of pancreas; ; glomerulus; ; parotid gland; ; metanephric glomerulus;
	Top expressed in
	lip; ; motor neuron; ; aortic valve; ; interventricular septum; ; corneal stroma; ; ascending aorta; ; fossa; ; duodenum; ; condyle; ; proximal tubule;
	More reference expression data
	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
	30
	113868
	ENSG00000060971
	ENSMUSG00000036138
	P09110
	Q921H8
	NM_001130410 ; NM_001607
	NM_130864 ; NM_001357516
	NP_001123882 ; NP_001598 ; NP_001598.1
	NP_570934 ; NP_001344445
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated July 23, 2023

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]

Function

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

Clinical significance

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

Related Research Articles

<span class="mw-page-title-main">HADHB</span> Protein-coding gene in the species Homo sapiens

Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase, acetyl-CoA acyltransferase, or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene.

Thiolases, also known as acetyl-coenzyme A acetyltransferases (ACAT), are enzymes which convert two units of acetyl-CoA to acetoacetyl CoA in the mevalonate pathway.

Acetyl-CoA acetyltransferase, mitochondrial, also known as acetoacetyl-CoA thiolase, is an enzyme that in humans is encoded by the ACAT1 gene.

Non-specific lipid-transfer protein also known as sterol carrier protein 2 (SCP-2) or propanoyl-CoA C-acyltransferase is a protein that in humans is encoded by the SCP2 gene.

In enzymology, a propionyl-CoA C2-trimethyltridecanoyltransferase is an enzyme that catalyzes the chemical reaction

Sterol O-acyltransferase 2, also known as SOAT2, is an enzyme that in humans is encoded by the SOAT2 gene.

Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene.

Acyl-coenzyme A thioesterase 8 is an enzyme that in humans is encoded by the ACOT8 gene.

Bile acid-CoA:amino acid N-acyltransferase is an enzyme that in humans is encoded by the BAAT gene.

Very long-chain acyl-CoA synthetase is an enzyme that in humans is encoded by the SLC27A2 gene.

Glycine-N-acyltransferase, also known as GLYAT, is an enzyme which in humans is encoded by the GLYAT gene.

D-aspartate oxidase is an enzyme that is encoded by the DDO gene.

Peroxisomal acyl-coenzyme A oxidase 3 is an enzyme that in humans is encoded by the ACOX3 gene.

Peroxisomal membrane protein 11A is a protein that in humans is encoded by the PEX11A gene.

Acyl-coenzyme A thioesterase 12 or StAR-related lipid transfer protein 15 (STARD15) is an enzyme that in humans is encoded by the ACOT12 gene. The protein contains a StAR-related lipid transfer domain.

<span class="mw-page-title-main">ECH1</span> Protein-coding gene in the species Homo sapiens

Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial is an enzyme that in humans is encoded by the ECH1 gene.

Peroxisomal carnitine O-octanoyltransferase is an enzyme that in humans is encoded by the CROT gene.

Acetyl-CoA acetyltransferase, cytosolic, also known as cytosolic acetoacetyl-CoA thiolase, is an enzyme that in humans is encoded by the ACAT2 gene

3-Ketoacyl-CoA thiolase, mitochondrial also known as acetyl-Coenzyme A acyltransferase 2 is an enzyme that in humans is encoded by the ACAA2 gene.

3-Oxoacyl-CoA is a group of coenzymes involved in the metabolism of fatty acids.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000060971 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036138 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. doi:10.1159/000132865. PMID 2630187.
↑ 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 .

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000060971 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 3 "Entrez Gene: acetyl-Coenzyme A acyltransferase 1".

[pmid2630187-6] 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.

[pmid1679347-7] 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.

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