UPB1
| Ureidopropionase, beta | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbols | UPB1 ; BUP1 | ||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 9471 | ||||||||
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| RNA expression pattern | |||||||||
| File:PBB GE UPB1 220507 s at tn.png | |||||||||
| More reference expression data | |||||||||
| Orthologs | |||||||||
| Template:GNF Ortholog box | |||||||||
| Species | Human | Mouse | |||||||
| Entrez | n/a | n/a | |||||||
| Ensembl | n/a | n/a | |||||||
| UniProt | n/a | n/a | |||||||
| RefSeq (mRNA) | n/a | n/a | |||||||
| RefSeq (protein) | n/a | n/a | |||||||
| Location (UCSC) | n/a | n/a | |||||||
| PubMed search | n/a | n/a | |||||||
Overview
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]
References
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.