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) [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 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]
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

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

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

References

1. GRCh38: Ensembl release 89: ENSG00000100024 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: UPB1 ureidopropionase, beta".

Further reading

• 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.