NP_057411.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
43,166 Da
NCBI Official Full Name
beta-ureidopropionase
NCBI Official Synonym Full Names
ureidopropionase, beta
NCBI Official Synonym Symbols
NCBI Protein Information
beta-ureidopropionase; beta-alanine synthase; n-carbamoyl-beta-alanine amidohydrolase
UniProt Protein Name
Beta-ureidopropionase
UniProt Synonym Protein Names
BUP-1; Beta-alanine synthase; N-carbamoyl-beta-alanine amidohydrolase
UniProt Synonym Gene Names
UniProt Entry Name
BUP1_HUMAN
NCBI Summary for UPB1
This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]
UniProt Comments for UPB1
UPB1: Converts N-carbamyl-beta-aminoisobutyric acid and N- carbamyl-beta-alanine to, respectively, beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide. Defects in UPB1 are the cause of beta-ureidopropionase deficiency (BUPD). 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. Belongs to the CN hydrolase family. BUP subfamily.
Protein type: Cofactor and Vitamin Metabolism - pantothenate and CoA biosynthesis; EC 3.5.1.6; Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - pyrimidine; Hydrolase; Other Amino Acids Metabolism - beta-alanine
Chromosomal Location of Human Ortholog: 22q11.2
Cellular Component: cytosol
Molecular Function: metal ion binding; beta-ureidopropionase activity
Biological Process: pyrimidine nucleoside catabolic process; pyrimidine base metabolic process; nucleobase, nucleoside and nucleotide metabolic process; beta-alanine biosynthetic process
Disease: Beta-ureidopropionase Deficiency
Research Articles on UPB1
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Products associated with UPB1 elisa kit
Pathways associated with UPB1 elisa kit
Diseases associated with UPB1 elisa kit
Organs/Tissues associated with UPB1 elisa kit
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