Entity Details

Primary name UPB1
Entity type gene
Source Source Link

Details

PrimaryID51733
RefseqGeneNG_012858
SymbolUPB1
Namebeta-ureidopropionase 1
Chromosome22
Location22q11.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBUP1_HUMAN

GO terms

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GOName
GO:0003837 beta-ureidopropionase activity
GO:0005829 cytosol
GO:0006248 CMP catabolic process
GO:0006249 dCMP catabolic process
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
GO:0033396 beta-alanine biosynthetic process via 3-ureidopropionate
GO:0042803 protein homodimerization activity
GO:0046050 UMP catabolic process
GO:0046079 dUMP catabolic process
GO:0046135 pyrimidine nucleoside catabolic process
GO:0051260 protein homooligomerization
GO:0051289 protein homotetramerization
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
613161 OMIMBeta-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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
UPB1ARMT1BioGRID26344197 details