UPB1

From Wikipedia, the free encyclopedia


Ureidopropionase, beta
Identifiers
Symbol(s) UPB1; BUP1
External IDs OMIM: 606673 MGI: 2143535 HomoloGene: 9471
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 51733 103149
Ensembl ENSG00000100024 ENSMUSG00000033427
Uniprot Q9UBR1 Q3UEK4
Refseq NM_016327 (mRNA)
NP_057411 (protein)		 NM_133995 (mRNA)
NP_598756 (protein)
Location Chr 22: 23.22 - 23.25 Mb Chr 10: 74.85 - 74.88 Mb
Pubmed search [1] [2]

Ureidopropionase, beta, also known as UPB1, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: UPB1 ureidopropionase, beta.

[edit] 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. 
  • 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. PMID 11508704. 
  • Vreken P, van Kuilenburg AB, Hamajima N, et al. (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. PMID 10542323. 
  • 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. 
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Metabolism: amino acid metabolism - nucleotide enzymes
Purine metabolism
Anabolism
Catabolism
Pyrimidine metabolism
Anabolism
Catabolism
Deoxyribonucleotides