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Literature summary for 2.7.1.113 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
Search for more literature for 2.7.1.113

Cloned(Commentary)

Cloned (Comment) Organism
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

Protein Variants Comment Organism
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]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
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
0.004
-
 2'-deoxyguanosine pH 7.6, wild-type enzyme Homo sapiens
0.0085
-
 ATP pH 7.6, wild-type enzyme, with 2'-deoxyguanosine Homo sapiens
0.023
-
 2'-deoxyguanosine pH 7.6, mutant L250S Homo sapiens
0.034
-
 ATP pH 7.6, mutant L250S, with 2'-deoxyguanosine Homo sapiens
0.269
-
 ATP pH 7.6, wild-type enzyme, with 2'-deoxyadenosine Homo sapiens
0.302
-
 ATP pH 7.6, mutant L250S, with 2'-deoxyadenosine Homo sapiens
0.467
-
 2'-deoxyadenosine pH 7.6, wild-type enzyme Homo sapiens
0.5
-
 2'-deoxyadenosine pH 7.6, mutant L250S Homo sapiens

Localization

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

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + 2'-deoxyadenosine Homo sapiens key enzyme in mitochondrial DNA precursor synthesis ADP + 2'-deoxyadenosine 5'-phosphate
-
 ?
ATP + 2'-deoxyguanosine Homo sapiens key enzyme in mitochondrial DNA precursor synthesis ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?
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

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

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
 Homo sapiens
-
skeletal muscle
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 catalytic efficiencies, wild-type and mutant enzymes 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'-deoxyadenosine key enzyme in mitochondrial DNA precursor synthesis Homo sapiens ADP + 2'-deoxyadenosine 5'-phosphate
-
 ?
ATP + 2'-deoxyguanosine
-
 Homo sapiens ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?
ATP + 2'-deoxyguanosine key enzyme in mitochondrial DNA precursor synthesis Homo sapiens ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?
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

Synonyms Comment Organism
DGK
-
 Homo sapiens

pH Optimum

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

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens