UPB1 explained

Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.^{[1] [2]}

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.

Further reading

• Thomas HR . Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism . Pharmacogenet. Genomics . 18 . 1 . 25–35 . 2008 . 18216719 . 10.1097/FPC.0b013e3282f2f134 . vanc. Ezzeldin HH . Guarcello V . 3 . Mattison . Lori K. . Fridley . Brooke L. . Diasio . Robert B. . 10940058 .
• Thomas HR . Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism . Pharmacogenet. Genomics . 17 . 11 . 973–87 . 2008 . 18075467 . 10.1097/FPC.0b013e3282f01788 . vanc. Ezzeldin HH . Guarcello V . 3 . Mattison . Lori K. . Fridley . Brooke L. . Diasio . Robert B. . 23490646 .
• van Kuilenburg AB . Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency . Nucleosides Nucleotides Nucleic Acids . 25 . 9–11 . 1093–8 . 2007 . 17065070 . 10.1080/15257770600956870 . vanc. Meinsma R . Assman B . 3 . Hoffman . G. . Voit . T. . Ribes . A. . Lorente . I. . Busch . R. . Mayatepek . E. . 34904943 .
• Collins JE . A genome annotation-driven approach to cloning the human ORFeome . Genome Biol. . 5 . 10 . R84 . 2005 . 15461802 . 10.1186/gb-2004-5-10-r84 . 545604 . vanc. Wright CL . Edwards CA . 3 . Davis . Matthew P . Grinham . James A . Cole . Charlotte G . Goward . Melanie E . Aguado . Begoña . Mallya . Meera . free .
• van Kuilenburg AB . beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities . Hum. Mol. Genet. . 13 . 22 . 2793–801 . 2006 . 15385443 . 10.1093/hmg/ddh303 . vanc. Meinsma R . Beke E . 3 . Assmann . B . Ribes . A . Lorente . I . Busch . R . Mayatepek . E . Abeling . NG .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Sakamoto T . Expression and properties of human liver beta-ureidopropionase . J. Nutr. Sci. Vitaminol. . 47 . 2 . 132–8 . 2002 . 11508704 . 10.3177/jnsv.47.132. vanc. Sakata SF . Matsuda K . 3 . Horikawa . Y . Tamaki . N . free.
• Naguib FN, el Kouni MH, Cha S . Enzymes of uracil catabolism in normal and neoplastic human tissues . Cancer Res. . 45 . 11 Pt 1 . 5405–12 . 1985 . 3931905 .

Notes and References

1. Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH . cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase . Biochim Biophys Acta . 1447 . 2–3 . 251–7 . Dec 1999 . 10542323 . 10.1016/s0167-4781(99)00182-7.
2. Web site: Entrez Gene: UPB1 ureidopropionase, beta.