UPB1

UPB1
Identifiers
Aliases	UPB1, BUP1, beta-ureidopropionase 1
External IDs	OMIM: 606673 MGI: 2143535 HomoloGene: 9471 GeneCards: UPB1
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; ; kidney; ; glomerulus; ; metanephric glomerulus; ; oocyte; ; jejunal mucosa; ; renal medulla; ; cerebellar vermis; ; secondary oocyte;
	Top expressed in
	left lobe of liver; ; kidney; ; proximal tubule; ; lacrimal gland; ; islet of Langerhans; ; seminal vesicula; ; olfactory epithelium; ; parotid gland; ; duodenum; ; jejunum;
	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.^[5]^[6]

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]

Interactive pathway map edit

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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|alt=Fluorouracil (5-FU) Activity edit]]

Fluorouracil (5-FU) Activity edit

^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100024 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033427 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH (Dec 1999). "cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase". Biochim Biophys Acta. 1447 (2–3): 251–7. doi:10.1016/s0167-4781(99)00182-7. PMID 10542323.
^ ^a ^b "Entrez Gene: UPB1 ureidopropionase, beta".

Further reading edit

Thomas HR, Ezzeldin HH, Guarcello V, et al. (2008). "Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism". Pharmacogenet. Genomics. 18 (1): 25–35. doi:10.1097/FPC.0b013e3282f2f134. PMID 18216719. S2CID 10940058.
Thomas HR, Ezzeldin HH, Guarcello V, et al. (2008). "Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism". Pharmacogenet. Genomics. 17 (11): 973–87. doi:10.1097/FPC.0b013e3282f01788. PMID 18075467. S2CID 23490646.
van Kuilenburg AB, Meinsma R, Assman B, et al. (2007). "Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency". Nucleosides Nucleotides Nucleic Acids. 25 (9–11): 1093–8. doi:10.1080/15257770600956870. PMID 17065070. S2CID 34904943.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
van Kuilenburg AB, Meinsma R, Beke E, et al. (2006). "beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities". Hum. Mol. Genet. 13 (22): 2793–801. doi:10.1093/hmg/ddh303. PMID 15385443.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Sakamoto T, Sakata SF, Matsuda K, et al. (2002). "Expression and properties of human liver beta-ureidopropionase". J. Nutr. Sci. Vitaminol. 47 (2): 132–8. doi:10.3177/jnsv.47.132. PMID 11508704.
Naguib FN, el Kouni MH, Cha S (1985). "Enzymes of uracil catabolism in normal and neoplastic human tissues". Cancer Res. 45 (11 Pt 1): 5405–12. PMID 3931905.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.

[WikiPathways-7] The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100024 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033427 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10542323-5] Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH (Dec 1999). "cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase". Biochim Biophys Acta. 1447 (2–3): 251–7. doi:10.1016/s0167-4781(99)00182-7. PMID 10542323.

[entrez-6] "Entrez Gene: UPB1 ureidopropionase, beta".

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