UPB1

Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.^[5][6]

AliasesUPB1, BUP1, beta-ureidopropionase 1

External IDsOMIM: 606673; MGI: 2143535; GeneCards: UPB1

Chr.Chromosome 22 (human)^[1]

End24,528,390 bp^[1]

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UPB1
Identifiers
Aliases	UPB1, BUP1, beta-ureidopropionase 1
External IDs	OMIM: 606673; MGI: 2143535; GeneCards: UPB1
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 3.5.1.6 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.23 Start 24,494,107 bp[1] End 24,528,390 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 C1 Start 75,236,949 bp[2] End 75,277,513 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver kidney tubule glomerulus metanephric glomerulus oocyte jejunal mucosa human kidney testicle renal medulla cerebellar vermis Top expressed in left lobe of liver human kidney right kidney proximal tubule lacrimal gland islet of Langerhans seminal vesicula olfactory epithelium parotid gland fetal liver hematopoietic progenitor cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function beta-ureidopropionase activity catalytic activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds metal ion binding Cellular component cytoplasm cytosol extracellular exosome Biological process beta-alanine biosynthetic process metabolism nitrogen compound metabolic process pyrimidine nucleoside catabolic process Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 51733 103149 Ensembl ENSG00000100024 ENSMUSG00000033427 UniProt Q9UBR1 Q8VC97 RefSeq (mRNA) NM_016327 NM_133995 RefSeq (protein) NP_057411 NP_598756 Location (UCSC) Chr 22: 24.49 – 24.53 Mb Chr 10: 75.24 – 75.28 Mb PubMed search [3] [4]
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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.^[6]