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Literature summary 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

EC Number Activating Compound Comment Organism Structure
3.2.1.45 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

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

Localization

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

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.45 Homo sapiens P04062
-
-

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 4-methylumbelliferone + beta-D-glucopyranose
-
 ?
3.2.1.45 4-nitrophenyl beta-D-glucopyranoside + H2O
-
 Homo sapiens 4-nitrophenol + beta-D-glucopyranose
-
 ?
3.2.1.45 4-nitrophenyl N-acetyl-beta-D-glucosaminide + H2O
-
 Homo sapiens 4-nitrophenol + N-acetyl-beta-D-glucosamine
-
 ?
3.2.1.45 5-(pentafluorobenzoylamino)fluorescein di-beta-D-glucopyranoside + H2O
-
 Homo sapiens 5-(pentafluorobenzoylamino)fluorescein + 2 beta-D-glucopyranose
-
 ?

Subunits

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

Synonyms

EC Number Synonyms Comment Organism
3.2.1.45 beta-glucocerebrosidase
-
 Homo sapiens