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Literature summary for 3.5.1.6 extracted from

  • Meijer, J.; Nakajima, Y.; Zhang, C.; Meinsma, R.; Ito, T.; Van Kuilenburg, A.B.
    Publishers note. Identification of a novel synonymous mutation in the human beta-ureidopropionase gene UPB1 affecting pre-mRNA splicing (2014), Nucleosides Nucleotides Nucleic Acids, 33, 639-645.
    View publication on PubMed

Cloned(Commentary)

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

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q9UBR1 gene UPB1
-

Source Tissue

Source Tissue Comment Organism Textmining
kidney predominantly Homo sapiens
-
liver predominantly Homo sapiens
-

Substrates and Products (Substrate)

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

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