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Literature summary extracted from

  • Wang, L.; Limongelli, A.; Vila, M.R.; Carrara, F.; Zeviani, M.; Eriksson, S.
    Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes (2005), Mol. Genet. Metab., 84, 75-82.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.1.113 expression of wild-type and mutant L250S enzymes in Escherichia coli with similar expression levels, the mutant enzyme is poorly soluble Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.113 L250S naturally occurring mutation in a patient with mitochondrial DNA depletion syndrome, patient shows rapidly progressing, early onset fatal liver failure associated with profoundly decreased mtDNA levels in liver and, to a lesser extent, in skeletal muscle, mutation is introduced into the enzyme cDNA via site-directed mutagenesis, the mutant enzyme shows 0.5% remaining activity compared to the wild-type enzyme Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
2.7.1.113 additional information
-
 additional information reaction of the mutant L250S with 2'-deoxyguanosine follows Michaelis-Menten kinetics, while the reaction with 2'-deoxyadenosine shows biphasic kinetics Homo sapiens
2.7.1.113 0.004
-
 2'-deoxyguanosine pH 7.6, wild-type enzyme Homo sapiens
2.7.1.113 0.0085
-
 ATP pH 7.6, wild-type enzyme, with 2'-deoxyguanosine Homo sapiens
2.7.1.113 0.023
-
 2'-deoxyguanosine pH 7.6, mutant L250S Homo sapiens
2.7.1.113 0.034
-
 ATP pH 7.6, mutant L250S, with 2'-deoxyguanosine Homo sapiens
2.7.1.113 0.269
-
 ATP pH 7.6, wild-type enzyme, with 2'-deoxyadenosine Homo sapiens
2.7.1.113 0.302
-
 ATP pH 7.6, mutant L250S, with 2'-deoxyadenosine Homo sapiens
2.7.1.113 0.467
-
 2'-deoxyadenosine pH 7.6, wild-type enzyme Homo sapiens
2.7.1.113 0.5
-
 2'-deoxyadenosine pH 7.6, mutant L250S Homo sapiens

Localization

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

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
2.7.1.113 Mg2+
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.1.113 ATP + 2'-deoxyadenosine Homo sapiens key enzyme in mitochondrial DNA precursor synthesis ADP + 2'-deoxyadenosine 5'-phosphate
-
 ?
2.7.1.113 ATP + 2'-deoxyguanosine Homo sapiens key enzyme in mitochondrial DNA precursor synthesis ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?
2.7.1.113 additional information Homo sapiens enzyme defect due to genetic alterations leads to tissue-specific mitochondrial DNA depletion causing multi-systemic disease or devastating liver disease ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.113 Homo sapiens
-
 patient with mitochondrial DNA depletion syndrome
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.113 liver
-
 Homo sapiens
-
2.7.1.113 skeletal muscle
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
2.7.1.113 additional information
-
 catalytic efficiencies, wild-type and mutant enzymes Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.1.113 ATP + 2'-deoxyadenosine
-
 Homo sapiens ADP + 2'-deoxyadenosine 5'-phosphate
-
 ?
2.7.1.113 ATP + 2'-deoxyadenosine key enzyme in mitochondrial DNA precursor synthesis Homo sapiens ADP + 2'-deoxyadenosine 5'-phosphate
-
 ?
2.7.1.113 ATP + 2'-deoxyguanosine
-
 Homo sapiens ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?
2.7.1.113 ATP + 2'-deoxyguanosine key enzyme in mitochondrial DNA precursor synthesis Homo sapiens ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?
2.7.1.113 additional information enzyme defect due to genetic alterations leads to tissue-specific mitochondrial DNA depletion causing multi-systemic disease or devastating liver disease Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.7.1.113 DGK
-
 Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
2.7.1.113 7.6
-
 assay at Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
2.7.1.113 ATP
-
 Homo sapiens