Biology:UPB1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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.[2]
Interactive pathway map
References
- ↑ "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. doi:10.1016/s0167-4781(99)00182-7. PMID 10542323.
- ↑ 2.0 2.1 "Entrez Gene: UPB1 ureidopropionase, beta". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51733.
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.
- 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.
- 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.
- 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. 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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- 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.
- "Enzymes of uracil catabolism in normal and neoplastic human tissues". Cancer Res. 45 (11 Pt 1): 5405–12. 1985. PMID 3931905.
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