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MGP000825

UniProt Annotations

Entry Information
Gene Namedeoxyguanosine kinase
Protein EntryDGUOK_HUMAN
UniProt IDQ16854
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q16854-1; Sequence=Displayed; Name=2; IsoId=Q16854-2; Sequence=VSP_003025; Name=3; IsoId=Q16854-3; Sequence=VSP_003024; Name=4; IsoId=Q16854-4; Sequence=VSP_003024, VSP_003025; Name=5; IsoId=Q16854-5; Sequence=VSP_003026, VSP_003024; Name=6; IsoId=Q16854-6; Sequence=VSP_056026, VSP_056027; Note=No experimental confirmation available.;
Catalytic ActivityATP + deoxyguanosine = ADP + dGMP. {ECO:0000269|PubMed:8706825}.
DiseaseMitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]: A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion. {ECO:0000269|PubMed:12205643, ECO:0000269|PubMed:15639197}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRequired for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents. {ECO:0000269|PubMed:8706825}.
SimilarityBelongs to the DCK/DGK family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitHomodimer. {ECO:0000269|PubMed:11427893}.
Tissue SpecificityUbiquitous. Highest expression in muscle, brain, liver and lymphoid tissues. {ECO:0000269|PubMed:8706825}.
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