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MGP000278

UniProt Annotations

Entry Information
Gene NameAU RNA binding protein/enoyl-CoA hydratase
Protein EntryAUHM_HUMAN
UniProt IDQ13825
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13825-1; Sequence=Displayed; Name=2; IsoId=Q13825-2; Sequence=VSP_008336; Note=No experimental confirmation available.;
Catalytic Activity(S)-3-hydroxy-3-methylglutaryl-CoA = trans-3- methylglutaconyl-CoA + H(2)O.
Disease3-methylglutaconic aciduria 1 (MGA1) [MIM:250950]: An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGA1 can be distinguished from other forms of MGA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3-hydroxyisovaleric acid excretion (not present in other MGA forms). {ECO:0000269|PubMed:12655555}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the conversion of 3-methylglutaconyl-CoA to 3- hydroxy-3-methylglutaryl-CoA. Has very low enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs. {ECO:0000269|PubMed:11738050, ECO:0000269|PubMed:12434311, ECO:0000269|PubMed:12655555, ECO:0000269|PubMed:7892223}.
PathwayAmino-acid degradation; L-leucine degradation; (S)-3- hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 3/3.
SimilarityBelongs to the enoyl-CoA hydratase/isomerase family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000250}.
SubunitHomohexamer.
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