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Literature summary for 1.1.1.49 extracted from

  • Grabowska, D.; Jablonska-Skwiecinska, E.; Plochocka, D.; Chelstowska, A.; Lewandowska, I.; Witos, I.; Majewska, Z.; Rokicka-Milewska, R.; Burzynska, B.
    A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia--characterization of enzyme using yeast expression system and molecular modeling (2004), Blood Cells Mol. Dis., 32, 124-130.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene g6pd is localized in the Xq28 region, DNA sequence determination and analysis and expression of wild-type and mutant P409R in Saccharomyces cerevisiae, functional complementation of the yeast enzyme deficient mutant strain ZWF1 by the wild-type and mutant P409R Homo sapiens

Protein Variants

Protein Variants Comment Organism
P409R natural occurring point mutation, reconstructed by site-directed mutagenesis, the gene g6pd is highly polymorphic with over 130 mutations identified, reduced activity drastically altered kinetics, and altered tertiary structure, disturbing the binding of NADP+, compared to the wild-type enzyme, reduced thermal stbility Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.077
-
D-glucose 6-phosphate pH 8.0, 37°C, native wild-type enzyme Homo sapiens
0.083
-
D-glucose 6-phosphate pH 8.0, 37°C, recombinant wild-type enzyme Homo sapiens
0.286
-
D-glucose 6-phosphate pH 8.0, 37°C, recombinant mutant P409R Homo sapiens

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.
D-glucose 6-phosphate + NADP+ Homo sapiens catalyzes the first step of the pentose phosphate pathway, enzyme deficiency often causes hemolytic anaemia D-glucono-1,5-lactone 6-phosphate + NADPH + H+
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
wild-type and deficient mutant
-

Purification (Commentary)

Purification (Comment) Organism
native wild-type from blood leukocyte, and recombinant wild-type and mutant P409R from Saccharomyces cerevisiae, by 2',5'-ADP affinity chromatography Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Homo sapiens
-
leukocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2-deoxy-D-glucose 6-phosphate + NADP+ wild-type and mutant P409R, below 10% activity compared to D-glucose 6-phosphate Homo sapiens 2-deoxy-D-glucono-1,5-lactone 6-phosphate + NADPH
-
?
D-glucose 6-phosphate + NADP+ catalyzes the first step of the pentose phosphate pathway, enzyme deficiency often causes hemolytic anaemia Homo sapiens D-glucono-1,5-lactone 6-phosphate + NADPH + H+
-
?
D-glucose 6-phosphate + NADP+ wild-type and mutant P409R Homo sapiens D-glucono-1,5-lactone 6-phosphate + NADPH + H+
-
?

Subunits

Subunits Comment Organism
More molecular modeling of the tertiary structure of wild-type and mutant enzymes Homo sapiens

Synonyms

Synonyms Comment Organism
G6PD
-
Homo sapiens
glucose-6-phosphate dehydrogenase
-
Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
assay at Homo sapiens

Temperature Stability [°C]

Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
45
-
60 min, the wild-type enzyme is completely stable, the mutant P409R shows 86% reduced thermal stability compared to the wild-type enzyme Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
8
-
assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADP+ binding by mutant P409R is reduced Homo sapiens