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MitoProteome Human Mitochondrial Protein Database
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Related Proteins
MT000015
UniProt Annotations
Entry Information
Gene Name
acyl-CoA oxidase 1, palmitoyl
Protein Entry
ACOX1_HUMAN
UniProt ID
Q15067
Species
Human
Comments
Comment type
Description
Alternative Products
Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ACOX1a, SCOX-exon 3I; IsoId=Q15067-1; Sequence=Displayed; Name=2; Synonyms=ACOX1b, SCOX-exon 3II; IsoId=Q15067-2; Sequence=VSP_000146; Name=3; IsoId=Q15067-3; Sequence=VSP_046129, VSP_000146; Note=No experimental confirmation available.;
Biophysicochemical Properties
Kinetic parameters: KM=73 uM for palmitoyl-CoA (isoform 1) {ECO:0000269|PubMed:17603022}; KM=90 uM for palmitoyl-CoA (isoform 2) {ECO:0000269|PubMed:17603022}; pH dependence: Optimum pH is 8.5 for isoform 1 and 7.5-8.5 for isoform 2. {ECO:0000269|PubMed:17603022}; Temperature dependence: Optimum temperature for isoform 1 at pH 7.5 is 40 degrees Celsius with no activity at 50 degrees Celsius. Optimum temperature for isoform 2 at pH 7.5 is 47.5 degrees Celsius with 57% activity retained at 50 degrees Celsius. {ECO:0000269|PubMed:17603022};
Catalytic Activity
Acyl-CoA + O(2) = trans-2,3-dehydroacyl-CoA + H(2)O(2).
Cofactor
Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:17603022};
Disease
Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]: A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning. {ECO:0000269|PubMed:11815777, ECO:0000269|PubMed:17458872, ECO:0000269|PubMed:8040306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function
Catalyzes the desaturation of acyl-CoAs to 2-trans- enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy- palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl- CoA. {ECO:0000269|PubMed:17458872, ECO:0000269|PubMed:17603022}.
Miscellaneous
Isoform 1 and isoform 2 can reverse the Acox1 null phenotype in mouse which is characterized by severe microvesicular hepatic steatosis, sustained activation of Ppara, spontaneous massive peroxisome proliferation and eventual development of hepatocellular carcinomas. Isoform 2 is more effective in reversal of the phenotype than isoform 1 (PubMed:20195242). {ECO:0000305|PubMed:20195242}.
Pathway
Lipid metabolism; peroxisomal fatty acid beta-oxidation.
Sequence Caution
Sequence=CAD97622.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity
Belongs to the acyl-CoA oxidase family. {ECO:0000305}.
Subcellular Location
Peroxisome.
Tissue Specificity
Widely expressed with highest levels of isoform 1 and isoform 2 detected in testis. Isoform 1 is expressed at higher levels than isoform 2 in liver and kidney while isoform 2 levels are higher in brain, lung, muscle, white adipose tissue and testis. Levels are almost equal in heart. {ECO:0000269|PubMed:17603022, ECO:0000269|PubMed:20195242}.
MitoProteome Human Mitochondrial Protein Database
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