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non-lysosomal glucosylceramidase (NLGase, glucosylceramidase 2, Beta-glucocerebrosidase 2, Beta-glucosidase 2) (GBA2 KIAA1605 AD035)
Function:
- non-lysosomal glucosylceramidase
- catalyzes conversion of glucosylceramide to glucose & ceramide
- role in sphingomyelin generation & prevention of glycolipid accumulation
- catalyzes hydrolysis of bile acid 3-O-glucosides, relevance of which is unclear in vivo
D-glucosyl-N-acylsphingosine + H2O
D-glucose + N-acylsphingosine
Kinetic parameters:
- KM=1.7 uM for 3beta-D-glucosido-lithocholic
- KM=6.2 uM for 3beta-D-glucosido-chenodeoxycholic
- KM=210 uM for beta-D-glucoside
Structure:
- belongs to the non-lysosomal glucosylceramidase family
Compartment:
- cell membrane
- not localized to lipid rafts
Alternative splicing: named isoforms=3
Expression:
- widely expressed
- highly expressed in brain, heart, skeletal muscle, kidney & placenta & expressed at lower level in liver
General
glucosylceramidase; lysosomal acid glucosylceramidase; acidic beta glucosidase; beta-glucocerebrosidase (GBA1, GBA, GC, GLUC)
glycoprotein
membrane protein
Properties
SIZE: MW = 105 kD
entity length = 927 aa
COMPARTMENT: lysosome
MOTIF: N-glycosylation site {N105}
N-glycosylation site {N245}
transmembrane domain {688-708}
Database Correlations
UniProt Q9HCG7
Pfam PF04685
ENZYME 3.2.1.45
References
UniProt :accession Q9HCG7