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beta-ureidopropionase (beta-alanine synthase, N-carbamoyl-beta-alanine amidohydrolase, BUP-1, UPB1, BUP1)
Function:
1) converts N-carbamyl-beta-aminoisobutyric acid to beta-aminoisobutyric acid & N-carbamyl-beta-alanine to beta-alanine, NH3 & CO2
2) allosteric enzyme with positive cooperativity toward substrate N-carbamoyl-beta-alanine
3) amino-acid biosynthesis, beta-alanine biosynthesis
N-carbamoyl-beta-alanine + H2O beta-alanine + CO2 + NH3
Cofactor: binds 1 Zn+2 per subunit
Structure:
- belongs to the CN hydrolase family, BUP subfamily
- contains 1 CN hydrolase domain
Compartment: cytoplasm
Pathology:
- defects in UPB1 are the cause of beta-ureidopropionase deficiency
Related
beta-ureidopropionase deficiency
General
hydrolase
metalloprotein
Properties
SIZE: MW = 43 kD
entity length = 384 aa
COMPARTMENT: cytoplasm
MOTIF: CN hydrolase {72-366}
MOTIF: Zn+2-binding site
SITE: 97-97
Zn+2-binding site
SITE: 158-158
Zn+2-binding site
SITE: 280-280
Zn+2-binding site
SITE: 293-293
Zn+2-binding site
SITE: 307-307
Database Correlations
OMIM 606673
MORBIDMAP 606673
UniProt Q9UBR1
Pfam PF00795
ENZYME 3.5.1.6
References
- UniProt :accession Q9UBR1
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=UPB1