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Literature summary for 3.2.1.45 extracted from

  • Steet, R.A.; Chung, S.; Wustman, B.; Powe, A.; Do, H.; Kornfeld, S.A.
    The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms (2006), Proc. Natl. Acad. Sci. USA, 103, 13813-13818.
    View publication on PubMedView publication on EuropePMC

Activating Compound

Activating Compound Comment Organism Structure
isofagomine GlcCerase activity is enhanced in normal fibroblasts 1.3fold after treatment with 0.03 mM isofagomine for 5 days Homo sapiens

Protein Variants

Protein Variants Comment Organism
N370S decreased activity Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
isofagomine
-
Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
CCD-43Sk cell
-
Homo sapiens
-
fibroblast
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
GlcCerase
-
Homo sapiens

IC50 Value

IC50 Value IC50 Value Maximum Comment Organism Inhibitor Structure
0.000005
-
wild type enzyme, at pH 7.2 Homo sapiens isofagomine
0.000009
-
wild type enzyme, at pH 6.4 Homo sapiens isofagomine
0.000018
-
mutant enzyme N370S, at pH 5.2 Homo sapiens isofagomine
0.000026
-
mutant enzyme N370S, at pH 6.4 Homo sapiens isofagomine
0.00003
-
wild type enzyme, at pH 5.2 Homo sapiens isofagomine
0.000128
-
mutant enzyme N370S, at pH 7.2 Homo sapiens isofagomine