Deoxyguanosine kinase, mitochondrial is an enzyme that in humans is encoded by the DGUOK gene.[5]
Function
In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene.[5]
Clinical
Mutations in this gene have been linked to inherited mitochondrial DNA depletion syndromes, neonatal liver failure, nystagmus and hypotonia.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000114956 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000014554 - Ensembl, May 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.
- 1 2 "Entrez Gene: DGUOK deoxyguanosine kinase".
Further reading
- Johansson M, Karlsson A (1996). "Cloning and expression of human deoxyguanosine kinase cDNA". Proc. Natl. Acad. Sci. U.S.A. 93 (14): 7258–62. Bibcode:1996PNAS...93.7258J. doi:10.1073/pnas.93.14.7258. PMC 38970. PMID 8692979.
- Wang L, Hellman U, Eriksson S (1996). "Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA". FEBS Lett. 390 (1): 39–43. doi:10.1016/0014-5793(96)00623-0. PMID 8706825. S2CID 24697393.
- Johansson M, Bajalica-Lagercrantz S, Lagercrantz J, Karlsson A (1997). "Localization of the human deoxyguanosine kinase gene (DGUOK) to chromosome 2p13". Genomics. 38 (3): 450–1. doi:10.1006/geno.1996.0654. PMID 8975728.
- Jüllig M, Eriksson S (2000). "Mitochondrial and submitochondrial localization of human deoxyguanosine kinase". Eur. J. Biochem. 267 (17): 5466–72. doi:10.1046/j.1432-1327.2000.01607.x. PMID 10951205.
- Jüllig M, Eriksson S (2001). "Apoptosis induces efflux of the mitochondrial matrix enzyme deoxyguanosine kinase". J. Biol. Chem. 276 (26): 24000–4. doi:10.1074/jbc.M100435200. PMID 11294860.
- Suzuki Y, Tsunoda T, Sese J, Taira H, Mizushima-Sugano J, Hata H, Ota T, Isogai T, Tanaka T, Nakamura Y, Suyama A, Sakaki Y, Morishita S, Okubo K, Sugano S (2001). "Identification and Characterization of the Potential Promoter Regions of 1031 Kinds of Human Genes". Genome Res. 11 (5): 677–84. doi:10.1101/gr.gr-1640r. PMC 311086. PMID 11337467.
- Johansson K, Ramaswamy S, Ljungcrantz C, Knecht W, Piskur J, Munch-Petersen B, Eriksson S, Eklund H (2001). "Structural basis for substrate specificities of cellular deoxyribonucleoside kinases". Nat. Struct. Biol. 8 (7): 616–20. doi:10.1038/89661. PMID 11427893. S2CID 19972787.
- Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N (2001). "The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA". Nat. Genet. 29 (3): 337–41. doi:10.1038/ng746. PMID 11687800. S2CID 24485683.
- Lotfi K, Månsson E, Peterson C, Eriksson S, Albertioni F (2002). "Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity". Biochem. Biophys. Res. Commun. 293 (5): 1489–96. doi:10.1016/S0006-291X(02)00415-1. PMID 12054684.
- Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH (2002). "Mitochondrial DNA depletion and dGK gene mutations". Ann. Neurol. 52 (3): 311–7. doi:10.1002/ana.10284. PMID 12205643. S2CID 31217378.
- Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H (2002). "A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA". Ann. Neurol. 52 (2): 237–9. doi:10.1002/ana.10247. PMID 12210798. S2CID 19664177.
- Krawiec K, Kierdaszuk B, Shugar D (2003). "Inorganic tripolyphosphate (PPP(i)) as a phosphate donor for human deoxyribonucleoside kinases". Biochem. Biophys. Res. Commun. 301 (1): 192–7. doi:10.1016/S0006-291X(02)03007-3. PMID 12535661.
- Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S (2005). "Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes". Mol. Genet. Metab. 84 (1): 75–82. doi:10.1016/j.ymgme.2004.09.005. PMID 15639197.
- Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S (2005). "New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome". Arch. Neurol. 62 (5): 745–7. doi:10.1001/archneur.62.5.745. PMID 15883261.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Fyrberg A, Mirzaee S, Lotfi K (2007). "Cell cycle dependent regulation of deoxycytidine kinase, deoxyguanosine kinase, and cytosolic 5'-nucleotidase I activity in MOLT-4 cells". Nucleosides Nucleotides Nucleic Acids. 25 (9–11): 1201–4. doi:10.1080/15257770600894386. PMID 17065091. S2CID 2670663.
- Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayençon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D (2007). "Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion". Biochem. J. 402 (2): 377–85. doi:10.1042/BJ20060705. PMC 1798436. PMID 17073823.
- Franco M, Johansson M, Karlsson A (2007). "Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells". Exp. Cell Res. 313 (12): 2687–94. doi:10.1016/j.yexcr.2007.04.003. PMID 17490647.
External links
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