ACOX1

ACOX1
Identifiers
Aliases	ACOX1, ACOX, PALMCOX, SCOX, acyl-CoA oxidase 1, palmitoyl, acyl-CoA oxidase 1, MITCH
External IDs	OMIM: 609751; MGI: 1330812; HomoloGene: 38299; GeneCards: ACOX1; OMA:ACOX1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	75,979,177 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	116,089,871 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; buccal mucosa cell; ; duodenum; ; mucosa of transverse colon; ; liver; ; right lobe of liver; ; internal globus pallidus; ; oral cavity; ; mucosa of ileum; ; rectum;
	Top expressed in
	left lobe of liver; ; right kidney; ; proximal tubule; ; human kidney; ; tunica adventitia of aorta; ; brown adipose tissue; ; pyloric antrum; ; epithelium of stomach; ; jejunum; ; white adipose tissue;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	signaling receptor binding; PDZ domain binding; palmitoyl-CoA oxidase activity; protein N-terminus binding; oxidoreductase activity; oxidoreductase activity, acting on the CH-CH group of donors; acyl-CoA oxidase activity; FAD binding; acyl-CoA dehydrogenase activity; flavin adenine dinucleotide binding; fatty acid binding;
Cellular component	nucleolus; nucleoplasm; cytoplasm; mitochondrion; nucleus; peroxisomal membrane; intracellular membrane-bounded organelle; peroxisome; membrane; peroxisomal matrix; plasma membrane; cytosol;
Biological process	spermatogenesis; generation of precursor metabolites and energy; lipid metabolism; fatty acid beta-oxidation; alpha-linolenic acid metabolic process; metabolism; peroxisome fission; fatty acid metabolic process; very long-chain fatty acid metabolic process; prostaglandin metabolic process; lipid homeostasis; fatty acid oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; regulation of lipid metabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; protein targeting to peroxisome;
	Sources:Amigo / QuickGO
Orthologs
	51
	11430
	ENSG00000161533
	ENSMUSG00000020777
	Q15067
	Q9R0H0
	NM_001185039; NM_004035; NM_007292
	NM_001271898; NM_015729; NM_001377521; NM_001377522
	NP_001171968; NP_004026; NP_009223
	NP_001258827; NP_056544; NP_001364450; NP_001364451
	Wikidata
View/Edit Human	View/Edit Mouse

Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene.⁵⁶

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified.⁶

Clinical features of ACOX1 deficiency generally include hypotonia and neonatal seizures.⁷

References

GRCh38: Ensembl release 89: ENSG00000161533 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020777 – 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.
Varanasi U, Chu R, Chu S, Espinosa R, LeBeau MM, Reddy JK (May 1994). "Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization". Proc Natl Acad Sci U S A. 91 (8): 3107–11. Bibcode:1994PNAS...91.3107V. doi:10.1073/pnas.91.8.3107. PMC 43524. PMID 8159712.
"Entrez Gene: ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl".
Masson, R.; Guerra, S.; Cerini, R.; Pensato, V.; Gellera, C.; Taroni, F.; Simonati, A. (May 2016). "Early white matter involvement in an infant carrying a novel mutation in ACOX1". European Journal of Paediatric Neurology. 20 (3): 431–434. doi:10.1016/j.ejpn.2016.02.007. ISSN 1090-3798.

External links

Human ACOX1 genome location and ACOX1 gene details page in the UCSC Genome Browser.

Further reading

Seedorf U, Ellinghaus P, Roch Nofer J (2000). "Sterol carrier protein-2". Biochim. Biophys. Acta. 1486 (1): 45–54. doi:10.1016/s1388-1981(00)00047-0. PMID 10856712.
Singh H, Brogan M, Johnson D, Poulos A (1993). "Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts". J. Lipid Res. 33 (11): 1597–605. doi:10.1016/S0022-2275(20)41382-3. PMID 1464743.
Watkins PA, McGuinness MC, Raymond GV, et al. (1995). "Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies". Ann. Neurol. 38 (3): 472–7. doi:10.1002/ana.410380322. PMID 7668838. S2CID 8189860.
Chu R, Varanasi U, Chu S, et al. (1995). "Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells". J. Biol. Chem. 270 (9): 4908–15. doi:10.1074/jbc.270.9.4908. PMID 7876265.
Fournier B, Saudubray JM, Benichou B, et al. (1994). "Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy". J. Clin. Invest. 94 (2): 526–31. doi:10.1172/JCI117365. PMC 296126. PMID 8040306.
Aoyama T, Tsushima K, Souri M, et al. (1994). "Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase". Biochem. Biophys. Res. Commun. 198 (3): 1113–8. doi:10.1006/bbrc.1994.1158. PMID 8117268.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Pacot C, Latruffe N (1993). "Biochemical properties of liver peroxisomes from rat, guinea pig and human species and the influence of hormonal status on rat liver acyl-CoA oxidase mRNA content". Biochimie. 75 (3–4): 235–42. doi:10.1016/0300-9084(93)90082-4. PMID 8507686.
Fan CY, Pan J, Chu R, et al. (1996). "Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase gene". J. Biol. Chem. 271 (40): 24698–710. doi:10.1074/jbc.271.40.24698. PMID 8798738.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Fujiwara C, Imamura A, Hashiguchi N, et al. (2001). "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.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Suzuki Y, Iai M, Kamei A, et al. (2002). "Peroxisomal acyl CoA oxidase deficiency". J. Pediatr. 140 (1): 128–30. doi:10.1067/mpd.2002.120511. PMID 11815777. S2CID 36469133.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
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.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000161533 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020777 – 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.

[pmid8159712-5] Varanasi U, Chu R, Chu S, Espinosa R, LeBeau MM, Reddy JK (May 1994). "Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization". Proc Natl Acad Sci U S A. 91 (8): 3107–11. Bibcode:1994PNAS...91.3107V. doi:10.1073/pnas.91.8.3107. PMC 43524. PMID 8159712.

[entrez-6] "Entrez Gene: ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl".

[7] Masson, R.; Guerra, S.; Cerini, R.; Pensato, V.; Gellera, C.; Taroni, F.; Simonati, A. (May 2016). "Early white matter involvement in an infant carrying a novel mutation in ACOX1". European Journal of Paediatric Neurology. 20 (3): 431–434. doi:10.1016/j.ejpn.2016.02.007. ISSN 1090-3798.

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See also

References

External links

Further reading