DPYS
Dihidropirimidinaza je enzim koji je kod ljudi kodiran genom DPYS.[5][6]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 519 aminokiselina, а molekulska težina 56.630 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAAPSRLLIR | GGRVVNDDFS | EVADVLVEDG | VVRALGHDLL | PPGGAPAGLR | ||||
| VLDAAGKLVL | PGGIDTHTHM | QFPFMGSRSI | DDFHQGTKAA | LSGGTTMIID | ||||
| FAIPQKGGSL | IEAFETWRSW | ADPKVCCDYS | LHVAVTWWSD | QVKEEMKILV | ||||
| QDKGVNSFKM | FMAYKDLYMV | TDLELYEAFS | RCKEIGAIAQ | VHAENGDLIA | ||||
| EGAKKMLALG | ITGPEGHELC | RPEAVEAEAT | LRAITIASAV | NCPLYIVHVM | ||||
| SKSAAKVIAD | ARRDGKVVYG | EPIAASLGTD | GTHYWNKEWH | HAAHHVMGPP | ||||
| LRPDPSTPDF | LMNLLANDDL | TTTGTDNCTF | NTCQKALGKD | DFTKIPNGVN | ||||
| GVEDRMSVIW | EKGVHSGKMD | ENRFVAVTST | NAAKIFNLYP | RKGRIAVGSD | ||||
| ADIVIWDPKG | TRTISAKTHH | QAVNFNIFEG | MVCHGVPLVT | ISRGKVVYEA | ||||
| GVFSVTAGDG | KFIPRKPFAE | YIYKRIKQRD | RTCTPTPVER | APYKGEVATL | ||||
| KSRVTKEDAT | AGTRKQAHP |
Funkcija
Dihidropirimidinaza katalizira pretvorbu 5,6-dihidrouracila u 3-ureidopropionat u metabolizmu pirimidina. Dihidropirimidinaza se eksprimira na visokom nivou u jetri i bubrezima, kao glavni 2,5-kb transkript i manji 3,8-kb transkript. Defekti gena DPYS povezani su sa dihidropirimidinurijom.[6]
Mapa interaktivnog puta
Šablon:FluoropyrimidineActivity WP1601
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000147647 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022304 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M, Nonaka M (Jan 1997). "A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution". Gene. 180 (1–2): 157–63. doi:10.1016/S0378-1119(96)00445-3. PMID 8973361.
- ^ a b "Entrez Gene: DPYS dihydropyrimidinase".
- ^ "UniProt, Q14117" (jezik: engleski). Pristupljeno 16. 9. 2021.
Dopunska literatura
- 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. S2CID 10940058.
- 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. S2CID 23490646.
- 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. S2CID 4427026.
- 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. PMC 528928. 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. PMC 139241. 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. doi:10.1086/302022. PMC 1377410. PMID 9718352.
- 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.
Vanjski linkovi
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