lmmol · Proteins

Lysosomal acid glucosylceramidase

UniProt P04062 Organism Homo sapiens Gene GBA, GBA1, GC, GLUC EC 3.2.1.45, 2.4.1.-, 3.2.1.-, 3.2.1.46

Also known as: GBA, GBA1, GC, GLUC

Function

Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose. Plays a central role in the degradation of complex lipids and the turnover of cellular membranes. Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation. Catalyzes the glucosylation of cholesterol, through a transglucosylation reaction where glucose is transferred from GlcCer to cholesterol. GlcCer containing mono-unsaturated fatty acids (such as beta-D-glucosyl-N-(9Z-octadecenoyl)-sphing-4-enine) are preferred as glucose donors for cholesterol glucosylation when compared with GlcCer containing same chain length of saturated fatty acids (such as beta-D-glucosyl-N-octadecanoyl-sphing-4-enine). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl 3-beta-D-glucoside to ceramide (Probable). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol. Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the transfer of galactose between GalCers and cholesterol in vitro, but with lower activity than with GlcCers. Contrary to GlcCer and GalCer, xylosylceramide/XylCer (such as beta-D-xyosyl-(1<->1')-N-acylsphing-4-enine) is not a good substrate for hydrolysis, however it is a good xylose donor for transxylosylation activity to form cholesteryl 3-beta-D-xyloside. Can also metabolize plant glycosyl phytosterols such as glucosylstigmasterol.

Classification

Family (Pfam)
PF02055 Glyco_hydro_30, PF17189 Glyco_hydro_30C
InterPro
GH, GH30_C, Glyco_hydro_30, Glyco_hydro_30_TIM-barrel
Functional cluster
Secreted Growth Factors & Cytokines

Experimental structures · PDB · 58

A predicted model is available from AlphaFold.

Gene Ontology · 39

Disease associations

Drugs targeting this protein · 1

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Literature · 118 cited papers

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