BRENDA - Enzyme Database

Characterization of the first described mutation of human red blood cell phosphoglycerate mutase

de Atauri, P.; Repiso, A.; Oliva, B.; Vives-Corrons, J.L.; Climent, F.; Carreras, J.; Biochim. Biophys. Acta 1740, 403-410 (2005)

Data extracted from this reference:

Application
EC Number
Application
Commentary
Organism
5.4.2.11
medicine
mutation M230I is identified in a patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells. Enzyme shows abnormal behaviour on ion-exchange chromatography and is more thermo-labile than wild-type
Homo sapiens
Engineering
EC Number
Amino acid exchange
Commentary
Organism
5.4.2.11
M230I
mutation identified in a patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells. Enzyme shows abnormal behaviour on ion-exchange chromatography and is more thermo-labile than wild-type
Homo sapiens
KM Value [mM]
EC Number
KM Value [mM]
KM Value Maximum [mM]
Substrate
Commentary
Organism
Structure
5.4.2.11
0.4
-
3-phospho-D-glycerate
pH 7.4, 30°C
Homo sapiens
Organism
EC Number
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
5.4.2.11
Homo sapiens
-
patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells
-
Reaction
EC Number
Reaction
Commentary
Organism
5.4.2.11
2-phospho-D-glycerate = 3-phospho-D-glycerate
ping-pong or phosphoenzyme mechanism
Homo sapiens
Source Tissue
EC Number
Source Tissue
Commentary
Organism
Textmining
5.4.2.11
erythrocyte
hemoglobin-free hemolysate
Homo sapiens
-
Substrates and Products (Substrate)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
5.4.2.11
2-phospho-D-glycerate
-
661261
Homo sapiens
3-phospho-D-glycerate
-
-
-
r
5.4.2.11
3-phospho-D-glycerate
-
661261
Homo sapiens
2-phospho-D-glycerate
-
-
-
r
5.4.2.11
additional information
enzyme possesses some 2,3-bisphosphoglycerate phosphatase activity
661261
Homo sapiens
?
-
-
-
-
Temperature Stability [°C]
EC Number
Temperature Stability Minimum [°C]
Temperature Stability Maximum [°C]
Commentary
Organism
5.4.2.11
45
-
wild-type, 1 h, 10% loss of activity, mutant M230I, 20 min, 50% loss of activity, 1 h, 90% loss of activity. In presence of 2,3-bisphosphoglycerate, both forms remain stable
Homo sapiens
Application (protein specific)
EC Number
Application
Commentary
Organism
5.4.2.11
medicine
mutation M230I is identified in a patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells. Enzyme shows abnormal behaviour on ion-exchange chromatography and is more thermo-labile than wild-type
Homo sapiens
Engineering (protein specific)
EC Number
Amino acid exchange
Commentary
Organism
5.4.2.11
M230I
mutation identified in a patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells. Enzyme shows abnormal behaviour on ion-exchange chromatography and is more thermo-labile than wild-type
Homo sapiens
KM Value [mM] (protein specific)
EC Number
KM Value [mM]
KM Value Maximum [mM]
Substrate
Commentary
Organism
Structure
5.4.2.11
0.4
-
3-phospho-D-glycerate
pH 7.4, 30°C
Homo sapiens
Source Tissue (protein specific)
EC Number
Source Tissue
Commentary
Organism
Textmining
5.4.2.11
erythrocyte
hemoglobin-free hemolysate
Homo sapiens
-
Substrates and Products (Substrate) (protein specific)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
5.4.2.11
2-phospho-D-glycerate
-
661261
Homo sapiens
3-phospho-D-glycerate
-
-
-
r
5.4.2.11
3-phospho-D-glycerate
-
661261
Homo sapiens
2-phospho-D-glycerate
-
-
-
r
5.4.2.11
additional information
enzyme possesses some 2,3-bisphosphoglycerate phosphatase activity
661261
Homo sapiens
?
-
-
-
-
Temperature Stability [°C] (protein specific)
EC Number
Temperature Stability Minimum [°C]
Temperature Stability Maximum [°C]
Commentary
Organism
5.4.2.11
45
-
wild-type, 1 h, 10% loss of activity, mutant M230I, 20 min, 50% loss of activity, 1 h, 90% loss of activity. In presence of 2,3-bisphosphoglycerate, both forms remain stable
Homo sapiens