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Literature summary for 2.7.1.74 extracted from

  • Lamba, J.K.; Crews, K.; Pounds, S.; Schuetz, E.; Gresham, J.; Gandhi, V.; Plunkett, W.; Rubnitz, J.; Ribeiro, R.
    Pharmacogenetics of deoxycytidine kinase: Identification and characterization of novel genetic variants (2007), J. Pharmacol. Exp. Ther., 323, 935-945.
    View publication on PubMed

Application

Application Comment Organism
medicine sequencing of gene from European and African individuals reveals 64 genetic polymorphisms. In general, African ancestry subjects show higher mRNA expression compared with subjects with European ancestry. In both groups, single nucleotide polymorphism 35708 C>T of a 3'-untranslated region is significantly associated with lower mRNA expression and with lower blast 1-beta-D-arabinofuranosylcytosine 5'-triphosphate levels in acute myeloid leukemia patients Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
native and mutant proteins expressed in Escherichia coli BL21 star Homo sapiens

Protein Variants

Protein Variants Comment Organism
A119G naturally occurring mutation, 66% of activity of the wild type protein Homo sapiens
A119G genetic polymorphism, 66% of wild-type activity, decrease in Km value Homo sapiens
I24V naturally occurring mutation, 85% of activity of the wild type protein Homo sapiens
I24V genetic polymorphism, 85% of wild-type activity Homo sapiens
additional information sequencing of gene from European and African individuals reveals 64 genetic polymorphisms. In general, African ancestry subjects show higher mRNA expression compared with subjects with European ancestry. In both groups, single nucleotide polymorphism 35708 C>T of a 3'-untranslated region is significanlty associated with lower mRNA expression and with lower blast 1-beta-D-arabinofuranosylcytosine 5'-triphosphate levels in acute myeloid leukemia patients Homo sapiens
P122S naturally occurring mutation, 43% of activity of the wild type protein Homo sapiens
P122S genetic polymorphism, 43% of wild-type activity, decrease in Km value Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.004
-
2-chloro-2'-deoxyadenosine A119G mutant enzyme, 37°C, pH 7.4 Homo sapiens
0.004
-
2-chloro-2'-deoxyadenosine P122S mutant enzyme, 37°C, pH 7.4 Homo sapiens
0.006
-
2-chloro-2'-deoxyadenosine wild type enzyme, 37°C, pH 7.4 Homo sapiens
0.009
-
2-chloro-2'-deoxyadenosine I24V mutant enzyme, 37°C, pH 7.4 Homo sapiens

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+ in complex with ATP Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
NTP + 1-beta-D-arabinofuranosylcytosine Homo sapiens i.e. cytarabine, rate limiting enzyme in the activation of the prodrug NDP + 1-beta-D-arabinofuranosylcytosine 5'-phosphate
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
differences in mRNA levels in African and European individuals detected
-
Homo sapiens P27707
-
-

Source Tissue

Source Tissue Comment Organism Textmining
B-lymphoblastoid cell line
-
Homo sapiens
-
lymphoblast
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + 2-chloro-2'-deoxyadenosine i.e. cladribine Homo sapiens ADP + 2-chloro-2'-deoxyadenosine 5'-phosphate
-
?
NTP + 1-beta-D-arabinofuranosylcytosine i.e. cytarabine, rate limiting enzyme in the activation of the prodrug Homo sapiens NDP + 1-beta-D-arabinofuranosylcytosine 5'-phosphate
-
?

Synonyms

Synonyms Comment Organism
dCK
-
Homo sapiens