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]

Full Name

ureidopropionase, beta

Function

Catalyzes a late step in pyrimidine degradation (PubMed:22525402, PubMed:24526388).
Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide (PubMed:10542323, PubMed:11508704, PubMed:10415095, PubMed:29976570, PubMed:22525402, PubMed:24526388).
Likewise, converts N-carbamoyl-beta-aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable).

Biological Process

Biological Process beta-alanine biosynthetic process via 3-ureidopropionate Source:UniProtKB2 Publications
Biological Process CMP catabolic process Source:Ensembl
Biological Process dCMP catabolic process Source:Ensembl
Biological Process dUMP catabolic process Source:Ensembl
Biological Process in utero embryonic development Source:Ensembl
Biological Process liver development Source:Ensembl
Biological Process protein homooligomerization Source:UniProtKB1 Publication
Biological Process protein homotetramerization Source:UniProtKB1 Publication
Biological Process pyrimidine nucleoside catabolic process Source:UniProtKB1 Publication
Biological Process UMP catabolic process Source:Ensembl

Cellular Location

Cytoplasm

Involvement in disease

Beta-ureidopropionase deficiency (UPB1D):
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.