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Literature summary for 3.2.1.45 extracted from

  • Sanchez-Olle, G.; Duque, J.; Egido-Gabas, M.; Casas, J.; Lluch, M.; Chabas, A.; Grinberg, D.; Vilageliu, L.
    Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease (2009), Blood Cells Mol. Dis., 42, 159-166.
    View publication on PubMed

Activating Compound

Activating Compound Comment Organism Structure
N-(n-butyl)deoxynojirimycin other names are miglustat and Zavesca, about 20% increase of wild type enzyme activity at 0.0025 and 0.005 mM Homo sapiens
N-(n-nonyl) deoxynojirimycin 1.3-1.4fold increase in activity is observed for the wild type enzyme at 0.02 mM Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expressed in COS-7 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
D409H the mutant shows about 17% activity compared to the wild type enzyme Homo sapiens
E326K the mutant shows about 30% activity compared to the wild type enzyme Homo sapiens
G202R the mutant shows about 25% activity compared to the wild type enzyme Homo sapiens
G377S the mutant shows about 25% activity compared to the wild type enzyme Homo sapiens
H255Q the mutant shows about 75% activity compared to the wild type enzyme Homo sapiens
H255Q/D409H the mutant shows about 20% activity compared to the wild type enzyme Homo sapiens
I402T the mutant shows about 19% activity compared to the wild type enzyme Homo sapiens
L444P the mutant shows about 3% activity compared to the wild type enzyme Homo sapiens
N188S the mutant shows about 55% activity compared to the wild type enzyme Homo sapiens
N188S/E326K the mutant shows about 10% activity compared to the wild type enzyme Homo sapiens
N370S the mutant shows about 7% activity compared to the wild type enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
glucosylceramide + H2O Homo sapiens
-
beta-D-glucose + ceramide
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl-beta-D-glucoside + H2O
-
Homo sapiens 4-methylumbelliferone + beta-D-glucose
-
?
glucosylceramide + H2O
-
Homo sapiens beta-D-glucose + ceramide
-
?

Synonyms

Synonyms Comment Organism
GBA
-
Homo sapiens
glucocerebrosidase
-
Homo sapiens