DPYS

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Dihydropyrimidinase
Identifiers
Symbol(s) DPYS; DHP; DHPase
External IDs OMIM: 222748 MGI: 1928679 HomoloGene: 20359
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1807 64705
Ensembl ENSG00000147647 ENSMUSG00000022304
Uniprot Q14117 Q8K0X3
Refseq NM_001385 (mRNA)
NP_001376 (protein)		 NM_022722 (mRNA)
NP_073559 (protein)
Location Chr 8: 105.46 - 105.55 Mb Chr 15: 39.6 - 39.69 Mb
Pubmed search [1] [2]

Dihydropyrimidinase, also known as DPYS, is a human gene.[1]

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria.[1]

[edit] References

  1. ^ a b Entrez Gene: DPYS dihydropyrimidinase.

[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, Meijer J, Dobritzsch D, et al. (2007). "Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.". Mol. Genet. Metab. 91 (2): 157–64. doi:10.1016/j.ymgme.2007.02.008. PMID 17383919. 
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • 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. 
  • Fukada M, Watakabe I, Yuasa-Kawada J, et al. (2001). "Molecular characterization of CRMP5, a novel member of the collapsin response mediator protein family.". J. Biol. Chem. 275 (48): 37957–65. doi:10.1074/jbc.M003277200. PMID 10956643. 
  • Hamajima N, Kouwaki M, Vreken P, et al. (1998). "Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.". Am. J. Hum. Genet. 63 (3): 717–26. PMID 9718352. 
  • Hamajima N, Matsuda K, Sakata S, et al. (1997). "A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution.". Gene 180 (1-2): 157–63. PMID 8973361. 
  • 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. 
 This article on a gene on chromosome 8 is a stub. You can help Wikipedia by expanding it.
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Metabolism: amino acid metabolism - nucleotide enzymes
Purine metabolism
Anabolism
Catabolism
Pyrimidine metabolism
Anabolism
Catabolism
Deoxyribonucleotides