Cloned (Comment) | Organism |
---|---|
expression of FLAG-tagged wild-type and mutant enzymes in COS-1 cells, the FLAG-tag reduces the activity of the recombinant wild-type enzyme compared to the non-tagged wild-type enzyme | Homo sapiens |
expression of FLAG-tagged wild-type enzyme and mutants Y209C and T16R in COS-1 cells, very low expression level of mutant enzymes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | mutational analysis of the genes encoding the enzyme from 11 argentinian patients suffering from glycogen storage disease type Ia, overview | Homo sapiens |
Q54P | naturally occurring missense mutation, no phenotype | Homo sapiens |
Q54P | naturally occurring mutation of the enzyme from an argentinian glycogen storage disease type Ia patient | Homo sapiens |
R83C | naturally occurring missense mutation, no phenotype | Homo sapiens |
R83C | naturally occurring mutation of the enzyme from an argentinian glycogen storage disease type Ia patient | Homo sapiens |
T16A | site-directed mutagenesis, 74-78% reduced activity compared to the wild-type enzyme | Homo sapiens |
T16R | naturally occurring N-terminal mutation of the enzyme from an argentinian glycogen storage disease type Ia patient, site-directed mutagenesis, about 90% reduced activity compared to the wild-type enzyme | Homo sapiens |
T16R | the isolated glucose-6-phosphatase mutation, in the sixth transmembrane helix, affects protein stability and causes glycogen storgae disease type Ia determined in Argentina, overview, the mutant constructed using site-sirected mutagenesis shows no enzymatic activity and reduced enzyme stability | Homo sapiens |
Y209C | naturally occurring mutation in the sixth transmembrane helix of the enzyme from an argentinian glycogen storage disease type Ia patient, site-directed mutagenesis, about 90% reduced activity compared to the wild-type enzyme | Homo sapiens |
Y209C | the isolated glucose-6-phosphatase mutation, in the sixth transmembrane helix, affects protein stability and causes glycogen storgae disease type Ia determined in Argentina, overview, the mutant constructed using site-sirected mutagenesis shows no enzymatic activity and reduced enzyme stability | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
membrane | the enzyme contains several transmembrane helices | Homo sapiens | 16020 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
D-glucose 6-phosphate + H2O | Homo sapiens | - |
D-glucose + phosphate | - |
? | |
additional information | Homo sapiens | enzyme deficiency causes glycogen storage disease type Ia, GSD-Ia, overview | ? | - |
? | |
additional information | Homo sapiens | glucose-6-phosphatase mutations affect protein stability and cause glycogen storgae disease type Ia, GSD-Ia, determined in Argentina, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P35575 | - |
- |
Homo sapiens | P35575 | individuals from Argentina | - |
Purification (Comment) | Organism |
---|---|
recombinant FLAG-tagged wild-type enzyme and mutants Y209C and T16R from COS-1 cells, removal of the tag | Homo sapiens |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
0.0078 | - |
purified FLAG-tagged recombinant mutant T16R | Homo sapiens |
0.008 | - |
purified detagged recombinant mutant T16R | Homo sapiens |
0.0083 | - |
purified detagged or FLAG-tagged recombinant mutant Y209C | Homo sapiens |
0.068 | - |
purified FLAG-tagged recombinant wild-type enzyme | Homo sapiens |
0.136 | - |
purified detagged recombinant wild-type enzyme | Homo sapiens |
67.7 | - |
recombinant FLAG-tagged wild-type enzyme | Homo sapiens |
136 | - |
recombinant non-tagged wild-type enzyme | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
D-glucose 6-phosphate + H2O | - |
Homo sapiens | D-glucose + phosphate | - |
? | |
additional information | enzyme deficiency causes glycogen storage disease type Ia, GSD-Ia, overview | Homo sapiens | ? | - |
? | |
additional information | glucose-6-phosphatase mutations affect protein stability and cause glycogen storgae disease type Ia, GSD-Ia, determined in Argentina, overview | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
G6Pase | - |
Homo sapiens |
G6PC | - |
Homo sapiens |
glucose-6-phosphatase | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
30 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
6.5 | - |
assay at | Homo sapiens |