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MT000066

UniProt Annotations

Entry Information

Gene Name	AU RNA binding protein/enoyl-CoA hydratase
Protein Entry	AUHM_HUMAN
UniProt ID	Q13825
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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.
Disease	3-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.
Function	Catalyzes 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}.
Pathway	Amino-acid degradation; L-leucine degradation; (S)-3- hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 3/3.
Similarity	Belongs to the enoyl-CoA hydratase/isomerase family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000250}.
Subunit	Homohexamer.