DGUOK

DGUOK
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2OCP
Identifiers
Aliases	DGUOK, deoxyguanosine kinase, MTDPS3, dGK, NCPH, PEOB4, NCPH1
External IDs	OMIM: 601465; MGI: 1351602; HomoloGene: 8456; GeneCards: DGUOK; OMA:DGUOK - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2p13.1 Start 73,926,826 bp End 73,958,961 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 C3|6 35.94 cM Start 83,457,199 bp End 83,483,951 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary olfactory zone of nasal mucosa ascending aorta Descending thoracic aorta ganglionic eminence mucosa of transverse colon popliteal artery tibial arteries left ovary left coronary artery Top expressed in neural layer of retina lactiferous gland right kidney endocardial cushion right ventricle secondary oocyte saccule ventricular zone corneal stroma adrenal gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding nucleoside kinase activity deoxyguanosine kinase activity kinase activity ATP binding deoxynucleoside kinase activity Cellular component cytoplasm cytosol mitochondrial matrix mitochondrion nucleus Biological process negative regulation of neuron projection development purine deoxyribonucleoside metabolic process dGTP metabolic process phosphorylation purine-containing compound salvage guanosine metabolic process protein phosphorylation nucleobase-containing compound metabolic process nucleotide biosynthetic process deoxyribonucleoside monophosphate biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1716 27369 Ensembl ENSG00000114956 ENSMUSG00000014554 UniProt Q16854 Q9QX60 RefSeq (mRNA) NM_001929 NM_080915 NM_080916 NM_080917 NM_080918 NM_001318859 NM_001318860 NM_001318861 NM_001318862 NM_001318863 NM_001162521 NM_013764 RefSeq (protein) NP_001305788 NP_001305789 NP_001305790 NP_001305791 NP_001305792 NP_550438 NP_550440 NP_001155993 NP_038792 Location (UCSC) Chr 2: 73.93 – 73.96 Mb Chr 6: 83.46 – 83.48 Mb PubMed search
Wikidata
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Deoxyguanosine kinase, mitochondrial is an enzyme that in humans is encoded by the DGUOK gene.

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.

Clinical

Mutations in this gene have been linked to inherited mitochondrial DNA depletion syndromes, neonatal liver failure, nystagmus and hypotonia.

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

• GeneReview/NIH/UW entry on DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form