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MGP006517

UniProt Annotations

Entry Information
Gene Nameurocanate hydratase 1
Protein EntryHUTU_HUMAN
UniProt IDQ96N76
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96N76-1; Sequence=Displayed; Name=2; IsoId=Q96N76-2; Sequence=VSP_045422; Note=No experimental confirmation available.;
Catalytic Activity3-(5-oxo-4,5-dihydro-3H-imidazol-4- yl)propanoate = urocanate + H(2)O. {ECO:0000269|PubMed:19304569}.
CofactorName=NAD(+); Xref=ChEBI:CHEBI:57540; Evidence={ECO:0000250};
DiseaseUrocanase deficiency (UROD) [MIM:276880]: An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking. {ECO:0000269|PubMed:19304569}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayAmino-acid degradation; L-histidine degradation into L- glutamate; N-formimidoyl-L-glutamate from L-histidine: step 2/3.
Sequence CautionSequence=BAD38651.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the urocanase family. {ECO:0000305}.
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