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Literature summary for 3.1.3.9 extracted from

  • Angaroni, C.J.; de Kremer, R.D.; Argarana, C.E.; Paschini-Capra, A.E.; Giner-Ayala, A.N.; Pezza, R.J.; Pan, C.J.; Chou, J.Y.
    Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability (2004), Mol. Genet. Metab., 83, 276-279.
    View publication on PubMed
Search for more literature for 3.1.3.9

Cloned(Commentary)

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

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

Localization Comment Organism GeneOntology No. Textmining
membrane the enzyme contains several transmembrane helices Homo sapiens 16020
-

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens P35575
-
-
Homo sapiens P35575 individuals from Argentina
-

Purification (Commentary)

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 [micromol/min/mg]

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 and Products (Substrate)

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

Synonyms Comment Organism
G6Pase
-
 Homo sapiens
G6PC
-
 Homo sapiens
glucose-6-phosphatase
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
30
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
6.5
-
 assay at Homo sapiens