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MGP000931

UniProt Annotations

Entry Information
Gene Nameenoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Protein EntryECHP_HUMAN
UniProt IDQ08426
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q08426-1; Sequence=Displayed; Name=2; IsoId=Q08426-2; Sequence=VSP_042811;
Catalytic Activity(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O.
Catalytic Activity(3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl- CoA.
Catalytic Activity(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
DiseaseFanconi renotubular syndrome 3 (FRTS3) [MIM:615605]: A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO:0000269|PubMed:24401050}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationEnzyme activity enhanced by acetylation. {ECO:0000269|PubMed:20167786}.
MiscellaneousAbsent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease.
PathwayLipid metabolism; fatty acid beta-oxidation.
PtmAcetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids. {ECO:0000269|PubMed:19608861, ECO:0000269|PubMed:20167786}.
SimilarityIn the C-terminal section; belongs to the 3- hydroxyacyl-CoA dehydrogenase family. {ECO:0000305}.
SimilarityIn the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family. {ECO:0000305}.
Subcellular LocationPeroxisome.
SubunitMonomer.
Tissue SpecificityLiver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain. {ECO:0000269|PubMed:24401050, ECO:0000269|PubMed:8188243}.
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