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MGP001410

UniProt Annotations

Entry Information
Gene Namehistidine ammonia-lyase
Protein EntryHUTH_HUMAN
UniProt IDP42357
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P42357-1; Sequence=Displayed; Name=2; IsoId=P42357-2; Sequence=VSP_044704; Note=No experimental confirmation available.; Name=3; IsoId=P42357-3; Sequence=VSP_046003; Note=No experimental confirmation available.;
Catalytic ActivityL-histidine = urocanate + NH(3). {ECO:0000255|PROSITE-ProRule:PRU10122}.
DiseaseHistidinemia (HISTID) [MIM:235800]: Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. {ECO:0000269|PubMed:15806399}. 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 1/3.
PtmContains an active site 4-methylidene-imidazol-5-one (MIO), which is formed autocatalytically by cyclization and dehydration of residues Ala-Ser-Gly. {ECO:0000250}.
SimilarityBelongs to the PAL/histidase family. {ECO:0000305}.
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