UPB1

UPB1
Identifiers
Aliases	UPB1, BUP1, beta-ureidopropionase 1
External IDs	OMIM: 606673; MGI: 2143535; HomoloGene: 9471; GeneCards: UPB1; OMA:UPB1 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	24,528,390 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	75,277,513 bp
RNA expression pattern
	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
	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
	51733
	103149
	ENSG00000100024
	ENSMUSG00000033427
	Q9UBR1
	Q8VC97
	NM_016327
	NM_133995
	NP_057411
	NP_598756
	Wikidata
View/Edit Human	View/Edit Mouse

Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.

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.