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Literature summary for 3.2.1.45 extracted from

  • Grace, M.E.; Graves, P.N.; Smith, F.I.; Grabowski, G.A.
    Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations (1990), J. Biol. Chem., 265, 6827-6835.
    View publication on PubMed

Application

Application Comment Organism
medicine Gaucher disease, sphingolipoidose Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression in Sf9 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
D358E no activity on glucosylceramide and 4-methylumbelliferyl-beta-D-glucopyranoside Homo sapiens
N370S Gaucher disease type I mutation Homo sapiens
R120Q Gaucher disease type I mutation, inactive Homo sapiens
T43K decreased activity on glucosylceramides Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
1-deoxynojirimycin
-
Homo sapiens
6-bromo-conduritol-beta-epoxide
-
Homo sapiens
castanospermine
-
Homo sapiens
glucosylsphingosine
-
Homo sapiens
N-decylglycosylamine
-
Homo sapiens
N-dodecylglycosylamine
-
Homo sapiens
N-hexadecylglycosylamine
-
Homo sapiens
N-hexyl-D-glucosylsphingosine
-
Homo sapiens
N-octadecylglycosylamine
-
Homo sapiens
N-tetradecylglycosylamine
-
Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
normal and Gaucher disease enzyme
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast skin fibroblasts in culture Homo sapiens
-
spleen
-
Homo sapiens
-

Substrates and Products (Substrate)

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