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Literature summary 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

EC Number Application Comment Organism
3.2.1.45 medicine Gaucher disease, sphingolipoidose Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.2.1.45 expression in Sf9 cells Homo sapiens

Protein Variants

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

Inhibitors

EC Number Inhibitors Comment Organism Structure
3.2.1.45 1-deoxynojirimycin
-
 Homo sapiens
3.2.1.45 6-bromo-conduritol-beta-epoxide
-
 Homo sapiens
3.2.1.45 castanospermine
-
 Homo sapiens
3.2.1.45 glucosylsphingosine
-
 Homo sapiens
3.2.1.45 N-decylglycosylamine
-
 Homo sapiens
3.2.1.45 N-dodecylglycosylamine
-
 Homo sapiens
3.2.1.45 N-hexadecylglycosylamine
-
 Homo sapiens
3.2.1.45 N-hexyl-D-glucosylsphingosine
-
 Homo sapiens
3.2.1.45 N-octadecylglycosylamine
-
 Homo sapiens
3.2.1.45 N-tetradecylglycosylamine
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

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

Source Tissue

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

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.45 4-methylumbelliferyl-beta-D-glucopyranoside + H2O
-
 Homo sapiens methylumbelliferone + glucose
-
 ?
3.2.1.45 glucocerebroside + H2O
-
 Homo sapiens glucose + ceramide
-
 ?