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Literature summary for 3.2.1.45 extracted from

  • Zunke, F.; Andresen, L.; Wesseler, S.; Groth, J.; Arnold, P.; Rothaug, M.; Mazzulli, J.R.; Krainc, D.; Blanz, J.; Saftig, P.; Schwake, M.
    Characterization of the complex formed by beta-glucocerebrosidase and the lysosomal integral membrane protein type-2 (2016), Proc. Natl. Acad. Sci. USA, 113, 3791-3796 .
    View publication on PubMedView publication on EuropePMC

Activating Compound

Activating Compound Comment Organism Structure
additional information a lysosomal integral membrane protein type-2 helix 5-derived peptide fused to a cellpenetrating peptide can be used to activate endogenous as well as recombinant wild-type or mutant enzyme efficiently Homo sapiens

Protein Variants

Protein Variants Comment Organism
F213I the mutation is associated with Gaucher's disease Homo sapiens
I161S the mutation is associated with Gaucher's disease Homo sapiens
L156E the mutant shows strongly reduced activity compared to the wild type enzyme Homo sapiens
L91E the mutant shows strongly reduced activity compared to the wild type enzyme Homo sapiens
L94E the mutant shows strongly reduced activity compared to the wild type enzyme Homo sapiens
N188S the mutation is associated with Gaucher's disease Homo sapiens
N370S the mutation is associated with Gaucher's disease Homo sapiens
P159L the mutation is associated with Gaucher's disease Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Homo sapiens 5764
-

Organism

Organism UniProt Comment Textmining
Homo sapiens P04062
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl beta-D-glucopyranoside + H2O
-
Homo sapiens 4-methylumbelliferone + beta-D-glucopyranose
-
?
4-nitrophenyl beta-D-glucopyranoside + H2O
-
Homo sapiens 4-nitrophenol + beta-D-glucopyranose
-
?
4-nitrophenyl N-acetyl-beta-D-glucosaminide + H2O
-
Homo sapiens 4-nitrophenol + N-acetyl-beta-D-glucosamine
-
?
5-(pentafluorobenzoylamino)fluorescein di-beta-D-glucopyranoside + H2O
-
Homo sapiens 5-(pentafluorobenzoylamino)fluorescein + 2 beta-D-glucopyranose
-
?

Subunits

Subunits Comment Organism
? x * 60000, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
beta-glucocerebrosidase
-
Homo sapiens