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MT000181

UniProt Annotations

Entry Information

Gene Name	deoxyguanosine kinase
Protein Entry	DGUOK_HUMAN
UniProt ID	Q16854
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Activity	ATP + deoxyguanosine = ADP + dGMP. {ECO:0000269\|PubMed:8706825}.
Disease	Mitochondrial 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.
Function	Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents. {ECO:0000269\|PubMed:8706825}.
Similarity	Belongs to the DCK/DGK family. {ECO:0000305}.
Subcellular Location	Mitochondrion.
Subunit	Homodimer. {ECO:0000269\|PubMed:11427893}.
Tissue Specificity	Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues. {ECO:0000269\|PubMed:8706825}.