DGUOK

Deoxyguanosine kinase, mitochondrial is an enzyme that in humans is encoded by the DGUOK gene.^[5]

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)[1] Band 2p13.1 Start 73,926,826 bp[1] End 73,958,961 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 C3|6 35.94 cM Start 83,457,199 bp[2] End 83,483,951 bp[2]
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 [3] [4]
Wikidata
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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.