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Literature summary for 6.3.2.3 extracted from

  • Njalsson, R.; Carlsson, K.; Bhansali, V.; Luo, J.L.; Nilsson, L.; Ladenstein, R.; Anderson, M.; Larsson, A.; Norgren, S.
    Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes (2004), Biochem. J., 381, 489-494.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 6.3.2.3

Cloned(Commentary)

Cloned (Comment) Organism
seven naturally occurring missense mutations (L188P, D219A, D219G, Y270C, Y270H, R283C and P314L) are expressed using a His-tagged, Escherichia coli-based expression system Homo sapiens

Protein Variants

Protein Variants Comment Organism
D219A naturally occurring missense mutation expressed using a His-tagged, Escherichia coli-based expression system, decreases Vmax to 4% of the wild-type activity Homo sapiens
D219G naturally occurring missense mutation expressed using a His-tagged, Escherichia coli-based expression system, decreases Vmax to 27% of the wild-type activity. Negative cooperativity for L-gamma-glutamyl-L-alpha-aminobutyric acid is changed to positive Homo sapiens
L188P naturally occurring missense mutation expressed using a His-tagged, Escherichia coli-based expression system, decreases Vmax to 9% of the wild-type activity Homo sapiens
P314L naturally occurring neutral mutation Homo sapiens
R283C naturally occurring missense mutation expressed using a His-tagged, Escherichia coli-based expression system, decreases Vmax to 13% of the wild-type activity Homo sapiens
Y208C naturally occurring missense mutation expressed using a His-tagged, Escherichia coli-based expression system, decreases Vmax to 2% of the wild-type activity Homo sapiens
Y270H naturally occurring missense mutation expressed using a His-tagged, Escherichia coli-based expression system, decreases Vmax to 6% of the wild-type activity Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
additional information
-
 additional information
-
 Homo sapiens
0.02
-
 ATP mutant enzyme Y270H Homo sapiens
0.04
-
 ATP mutant enzyme D219G Homo sapiens
0.05
-
 ATP mutant enzyme P314L Homo sapiens
0.05
-
 ATP mutant enzyme Y270C Homo sapiens
0.07
-
 ATP wild-type enzyme Homo sapiens
0.09
-
 ATP mutant enzyme R283C Homo sapiens
0.73
-
 ATP mutant enzyme L188P Homo sapiens
1.02
-
 Gly mutant enzyme R283C Homo sapiens
1.05
-
 ATP mutant enzyme D219A Homo sapiens
1.24
-
 Gly mutant enzyme Y270H Homo sapiens
1.43
-
 Gly mutant enzyme Y270C Homo sapiens
1.51
-
 Gly mutant enzyme D219G Homo sapiens
1.64
-
 Gly mutant enzyme P314L Homo sapiens
1.75
-
 Gly wild-type enzyme Homo sapiens
2.07
-
 Gly mutant enzyme D219A Homo sapiens
2.25
-
 Gly mutant enzyme L188P Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + gamma-Glu-L-Cys + Gly Homo sapiens patients with hereditary glutathione synthetase deficiency suffer from haemolytic anaemia, 5-oxoprolinuria, metabolic acidosis, recurrent bacterial infections and various degrees of central nervous system dysfunction ADP + phosphate + glutathione
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P48637
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + gamma-Glu-L-Cys + Gly
-
 Homo sapiens ADP + phosphate + glutathione
-
 ?
ATP + gamma-Glu-L-Cys + Gly patients with hereditary glutathione synthetase deficiency suffer from haemolytic anaemia, 5-oxoprolinuria, metabolic acidosis, recurrent bacterial infections and various degrees of central nervous system dysfunction Homo sapiens ADP + phosphate + glutathione
-
 ?