UPB1

From Wikipedia, the free encyclopedia

Ureidopropionase, beta

Identifiers

UPB1; BUP1

External IDs

OMIM: 606673 MGI: 2143535 HomoloGene: 9471

Gene ontology
Molecular Function:	• beta-ureidopropionase activity • zinc ion binding • hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds • metal ion binding
Biological Process:	• nitrogen compound metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

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

^ ^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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v • d • e

Metabolism: amino acid metabolism - nucleotide enzymes

Purine metabolism

Anabolism	synthesis: Amidophosphoribosyltransferase - Inosine monophosphate synthase GMP (IMP dehydrogenase, GMP synthase, GMP reductase) AMP (Adenylosuccinate synthase, Adenylosuccinate lyase, AMP deaminase)

Nucleotide salvage	Hypoxanthine-guanine phosphoribosyltransferase - Adenine phosphoribosyltransferase

Catabolism	Adenosine deaminase - Purine nucleoside phosphorylase - Guanine deaminase - Xanthine oxidase - Urate oxidase

Pyrimidine metabolism

Anabolism	CAD (Carbamoyl phosphate synthase II, Aspartate carbamoyltransferase, Dihydroorotase) Dihydroorotate dehydrogenase - Orotidine 5'-phosphate decarboxylase/Uridine monophosphate synthetase CTP synthase

Catabolism	Dihydropyrimidine dehydrogenase - Dihydropyrimidinase/DPYS - Beta-ureidopropionase/UPB1