Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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

Cloned(Commentary)

EC Number Cloned (Comment) Organism
6.3.2.3 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

EC Number Protein Variants Comment Organism
6.3.2.3 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
6.3.2.3 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
6.3.2.3 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
6.3.2.3 P314L naturally occurring neutral mutation Homo sapiens
6.3.2.3 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
6.3.2.3 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
6.3.2.3 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]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
6.3.2.3 additional information
-
additional information
-
Homo sapiens
6.3.2.3 0.02
-
ATP mutant enzyme Y270H Homo sapiens
6.3.2.3 0.04
-
ATP mutant enzyme D219G Homo sapiens
6.3.2.3 0.05
-
ATP mutant enzyme P314L Homo sapiens
6.3.2.3 0.05
-
ATP mutant enzyme Y270C Homo sapiens
6.3.2.3 0.07
-
ATP wild-type enzyme Homo sapiens
6.3.2.3 0.09
-
ATP mutant enzyme R283C Homo sapiens
6.3.2.3 0.73
-
ATP mutant enzyme L188P Homo sapiens
6.3.2.3 1.02
-
Gly mutant enzyme R283C Homo sapiens
6.3.2.3 1.05
-
ATP mutant enzyme D219A Homo sapiens
6.3.2.3 1.24
-
Gly mutant enzyme Y270H Homo sapiens
6.3.2.3 1.43
-
Gly mutant enzyme Y270C Homo sapiens
6.3.2.3 1.51
-
Gly mutant enzyme D219G Homo sapiens
6.3.2.3 1.64
-
Gly mutant enzyme P314L Homo sapiens
6.3.2.3 1.75
-
Gly wild-type enzyme Homo sapiens
6.3.2.3 2.07
-
Gly mutant enzyme D219A Homo sapiens
6.3.2.3 2.25
-
Gly mutant enzyme L188P Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
6.3.2.3 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

EC Number Organism UniProt Comment Textmining
6.3.2.3 Homo sapiens P48637
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
6.3.2.3 ATP + gamma-Glu-L-Cys + Gly
-
Homo sapiens ADP + phosphate + glutathione
-
?
6.3.2.3 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
-
?