MGP Database

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MGP005242

UniProt Annotations

Entry Information
Gene Nameureidopropionase, beta
Protein EntryBUP1_HUMAN
UniProt IDQ9UBR1
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityN-carbamoyl-beta-alanine + H(2)O = beta- alanine + CO(2) + NH(3).
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000305}; Note=Binds 1 zinc ion per subunit. {ECO:0000305};
DiseaseBeta-ureidopropionase deficiency (BUPD) [MIM:613161]: An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. {ECO:0000269|PubMed:15385443}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationAllosteric enzyme with positive cooperativity toward the substrate N-carbamoyl-beta-alanine. {ECO:0000250}.
FunctionConverts N-carbamyl-beta-aminoisobutyric acid and N- carbamyl-beta-alanine to, respectively, beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide.
PathwayAmino-acid biosynthesis; beta-alanine biosynthesis.
SimilarityBelongs to the carbon-nitrogen hydrolase superfamily. BUP family. {ECO:0000305}.
SimilarityContains 1 CN hydrolase domain. {ECO:0000255|PROSITE- ProRule:PRU00054}.
Subcellular LocationCytoplasm.
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