Entity Details

Primary name BUP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UBR1
EntryNameBUP1_HUMAN
FullNameBeta-ureidopropionase
TaxID9606
Evidenceevidence at protein level
Length384
SequenceStatuscomplete
DateCreated2001-09-26
DateModified2021-06-02

Ontological Relatives

GenesUPB1

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

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR003010 Carbon-nitrogen hydrolaseDomainDomain
IPR036526 Carbon-nitrogen hydrolase superfamilyFamilyHomologous superfamily

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

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