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Literature summary for 2.7.1.113 extracted from

  • Mousson de Camaret, B.; Taanman, J.W.; Padet, S.; Chassagne, M.; Mayencon, M.; Clerc-Renaud, P.; Mandon, G.; Zabot, M.T.; Lachaux, A.; Bozon, D.
    Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion (2007), Biochem. J., 402, 377-385.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.1.113

Protein Variants

Protein Variants Comment Organism
A2S resulting from a base change G to T at position 4, a G base change immediately after the start codon is likely to affect start codon recognition by the ribosome the patient has an additional base change G to A at position 591 results in skipping of exon 4, very low residual activity Homo sapiens
L266R 10% residual activity Homo sapiens
L266R father of patient with double mutant, 42 of the mean control value for 2'-deoxyguanosine, and 41 of the mean control value for 2'-deoxyadenosine Homo sapiens
additional information duplication of bases 763 to 766 in exon 6 results in a truncated non-functional protein, very low residual activity Homo sapiens
N46S 14% residual activity Homo sapiens
N46S mother and brother of patient with double mutant, 61 and 45% of the mean control value for 2'-deoxyguanosine, and 59 and 44% of the mean control value for 2'-deoxyadenosine Homo sapiens
N46S/L266R naturally occuring mutation, 14 and 10% residual activity as compared with controls with deoxyguanosine and deoxyadenosine, patient shows improved liver tests starting from age 46 month, at age 10 years clinically healthy Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.0018
-
 2'-deoxyguanosine control group, pH 7.4, 37°C Homo sapiens
0.0019
-
 2'-deoxyguanosine brother (N46S), pH 7.4, 37°C Homo sapiens
0.0023
-
 2'-deoxyguanosine father (L266R), pH 7.4, 37°C Homo sapiens
0.0026
-
 2'-deoxyadenosine patient with double mutation N46S/L266, pH 7.4, 37°C Homo sapiens
0.0028
-
 2'-deoxyguanosine mother (N46S), pH 7.4, 37°C Homo sapiens
0.0034
-
 2'-deoxyguanosine patient with double mutation N46S/L266, pH 7.4, 37°C Homo sapiens
0.0035
-
 2'-deoxyadenosine father (L266R), pH 7.4, 37°C Homo sapiens
0.0041
-
 2'-deoxyadenosine brother (N46S), pH 7.4, 37°C Homo sapiens
0.0053
-
 2'-deoxyadenosine mother (N46S), pH 7.4, 37°C Homo sapiens
0.0068
-
 2'-deoxyadenosine control group, pH 7.4, 37°C Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + 2'-deoxyadenosine Homo sapiens
-
 ADP + 2'-deoxyadenosine 5'-phosphate
-
 ?
ATP + 2'-deoxyguanosine Homo sapiens one of the two mitochondrial deoxynucleoside salvage pathway enzymes involved in precursor synthesis for mitochondrial DNA replication, DGUOK is responsible for the initial rate-limiting phosphorylation of the purine deoxynucleosides, mutations of the enzyme are associated with the hepato-specific and hepatocerebral forms of the mtDNA depletion syndrome ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens
-
 3 patients, one with N46S/L266R double mutation who is clinically healthy at age of 10 years, 2 patients with lethal mutations who died at 2 and 3 month of age and parents and healthy controls
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-
fibroblast from forearm skin Homo sapiens
-
liver
-
 Homo sapiens
-

Storage Stability

Storage Stability Organism
-80°C, stable for at least 1 year Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + 2'-deoxyadenosine
-
 Homo sapiens ADP + 2'-deoxyadenosine 5'-phosphate
-
 ?
ATP + 2'-deoxyguanosine
-
 Homo sapiens ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?
ATP + 2'-deoxyguanosine one of the two mitochondrial deoxynucleoside salvage pathway enzymes involved in precursor synthesis for mitochondrial DNA replication, DGUOK is responsible for the initial rate-limiting phosphorylation of the purine deoxynucleosides, mutations of the enzyme are associated with the hepato-specific and hepatocerebral forms of the mtDNA depletion syndrome Homo sapiens ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?
ATP + deoxyguanosine
-
 Homo sapiens ADP + dGMP
-
 ?

Synonyms

Synonyms Comment Organism
deoxyguanosine kinase
-
 Homo sapiens
DG kinase
-
 Homo sapiens
DGUOK
-
 Homo sapiens
nucleoside triphosphate: deoxyguanosine 5'-phosphotransferase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens