Cloned (Comment) | Organism |
---|---|
gene UPB1, located on chromosome 22q11.2, DNA and amino acid sequence determination and analysis, expression of wild-type and mutant enzymes in HEK293 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G31G | a naturally occuring synonymous mutation c.93C>T | Homo sapiens |
additional information | missense mutations and intronic mutations that lead to aberrant splicing, overview | Homo sapiens |
R326Q | naturally occuring mutation in exon 9 affecting pre-mRNA splicing, analysis using a minigel approach | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
3-ureidobutyrate + H2O | Homo sapiens | - |
2-methyl-beta-alanine + CO2 + NH3 | - |
? | |
3-ureidopropanoate + H2O | Homo sapiens | - |
beta-alanine + CO2 + NH3 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9UBR1 | gene UPB1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
kidney | predominantly | Homo sapiens | - |
liver | predominantly | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
3-ureidobutyrate + H2O | - |
Homo sapiens | 2-methyl-beta-alanine + CO2 + NH3 | - |
? | |
3-ureidopropanoate + H2O | - |
Homo sapiens | beta-alanine + CO2 + NH3 | - |
? |
General Information | Comment | Organism |
---|---|---|
metabolism | beta-ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyzes the conversion of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid to beta-alanine and beta-aminoisobutyric acid, respectively, and ammonia and CO2 | Homo sapiens |