Literature summary for 3.2.1.45 extracted from

Ben Bdira, F.; Kallemeijn, W.W.; Oussoren, S.V.; Scheij, S.; Bleijlevens, B.; Florea, B.I.; van Roomen, C.P.A.A.; Ottenhoff, R.; van Kooten, M.J.F.M.; Walvoort, M.T.C.; Witte, M.D.; Boot, R.G.; Ubbink, M.; Overkleeft, H.S.; Aerts, J.M.F.G.
Stabilization of glucocerebrosidase by active site occupancy (2017), ACS Chem. Biol., 12, 1830-1841 .

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Protein Variants

Protein Variants	Comment	Organism
L444P	the mutant enzyme exhibits impaired endoplasmic reticulum folding	Homo sapiens
N370S	the mutant enzyme is labile in lysosomes	Homo sapiens

General Stability

General Stability	Organism
cyclophellitol-derived activity-based probes improve the stability of the enzyme in vitro. At pH 5.2, the recombinant enzyme shows resistance to tryptic digestion over the course of 90 min, whereas at pH 7.4, the enzyme is more sensitive to trypsin digestion, with about 40% degraded within 60 min	Homo sapiens

Inhibitors

Inhibitors	Comment	Organism	Structure
conduritol beta-epoxide	irreversible inhibitor	Homo sapiens
cyclophellitol beta-epoxide ABP4	-	Homo sapiens
cyclophellitol beta-epoxide ABP5	-	Homo sapiens
isofagomine	potent, reversible inhibitor	Homo sapiens
triazole-linked 6-BODIPY-2-deoxy-2-fluoro-beta-D-glucopyranosyl-N-phenyltrifluoroacetimidate inhibitor	semi-irreversible inhibitor	Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P04062	-	-

Purification (Commentary)

Purification (Comment)	Organism
concanavalin A-Sepharose column chromatography and Superdex 75 gel filtration	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Subunits

Subunits	Comment	Organism
?	x * 58000, SDS-PAGE	Homo sapiens

Synonyms

Synonyms	Comment	Organism
GBA	-	Homo sapiens
glucocerebrosidase	-	Homo sapiens
Imiglucerase	-	Homo sapiens

Temperature Stability [°C]

Temperature Stability Minimum [°C]	Temperature Stability Maximum [°C]	Comment	Organism
57	-	melting temperature of the recombinant enzyme at pH 7.4	Homo sapiens
61	-	melting temperature of the recombinant enzyme at pH 5.2	Homo sapiens

pH Stability

pH Stability	pH Stability Maximum	Comment	Organism
5.2	7.4	the activity of the recombinant enzyme is preserved under acidic conditions, whereas at pH 7.4, its activity is lost with a half-life of 30 min	Homo sapiens

IC50 Value

IC50 Value	IC50 Value Maximum	Comment	Organism	Inhibitor	Structure
0.0000058	-	at pH 7.0 and 37°C	Homo sapiens	isofagomine
0.0000314	-	at pH 5.2 and 37°C	Homo sapiens	isofagomine
0.005458	-	at pH 5.2 and 37°C	Homo sapiens	triazole-linked 6-BODIPY-2-deoxy-2-fluoro-beta-D-glucopyranosyl-N-phenyltrifluoroacetimidate inhibitor
0.009497	-	at pH 5.2 and 37°C	Homo sapiens	conduritol beta-epoxide

General Information

General Information	Comment	Organism
malfunction	enzyme deficiency results in Gaucher disease	Homo sapiens

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Release 2023.1 (January 2023)