Literature summary for 3.2.1.45 extracted from

Ohashi, T.; Hong, C.M.; Weiler, S.; Tomich, J.M.; Aerts, J.M.; Tager, J.M.; Barranger, J.A.
Characterization of human glucocerebrosidase from different mutant alleles (1991), J. Biol. Chem., 266, 3661-3667.

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Activating Compound

Activating Compound	Comment	Organism	Structure
phosphatidylserine	-	Homo sapiens
saposin-C	sphingolipid activator protein, SAP-2	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in NIH 3T3 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
L444P	Gaucher disease mutation, reduced amounts of protein in cells	Homo sapiens
N370S	abnormal catalytic site	Homo sapiens
P415R	Gaucher disease mutation, reduced amounts of protein in cells	Homo sapiens
R120Q	Gaucher disease type I mutation, inactive	Homo sapiens
R463C	Gaucher disease type I mutation, less active with saposin C	Homo sapiens

Inhibitors

Inhibitors	Comment	Organism	Structure
(1R,2R,3S,4S,5R,6S)-7-oxabicyclo[4.1.0]heptane-2,3,4,5-tetrol	-	Homo sapiens
glucosylsphingosine	-	Homo sapiens

KM Value [mM]

KM Value [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
2.7	-	4-methylumbelliferyl-beta-D-glucopyranoside	-	Homo sapiens
4	-	4-methylumbelliferyl-beta-D-glucopyranoside	recombinant and mutant enzyme	Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

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

Purification (Commentary)

Purification (Comment)	Organism
of the recombinant protein	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
placenta	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Temperature Stability [°C]

Temperature Stability Minimum [°C]	Temperature Stability Maximum [°C]	Comment	Organism
50	-	60 min, no loss of activity	Homo sapiens

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Release 2023.1 (January 2023)