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GBA3

Function

Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, PubMed:11784319, PubMed:17595169, PubMed:20728381, PubMed:26724485, PubMed:33361282). Has a significant glucosylceramidase activity in vitro (PubMed:17595169, PubMed:26724485). However, that activity is relatively low and its significance in vivo is not clear (PubMed:17595169, PubMed:20728381, PubMed:26724485). Hydrolyzes galactosylceramides/GalCers, glucosylsphingosines/GlcSphs and galactosylsphingosines/GalSphs (PubMed:17595169). However, the in vivo relevance of these activities is unclear (PubMed:17595169). It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics (PubMed:11784319). Possesses transxylosylase activity in vitro using xylosylated ceramides/XylCers (such as beta-D-xylosyl-(1<->1')-N-acylsphing-4-enine) as xylosyl donors and cholesterol as acceptor (PubMed:33361282). Could also play a role in the catabolism of cytosolic sialyl free N-glycans (PubMed:26193330).

Post-translational modifications

The N-terminus is blocked.

Sequence Similarities

Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.

Tissue Specificity

Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas.

Cellular localization

Alternative names

CBG, CBGL1, GBA3, Cytosolic beta-glucosidase, Cytosolic beta-glucosidase-like protein 1, Cytosolic galactosylceramidase, Cytosolic glucosylceramidase, Cytosolic glycosylceramidase, Glucosidase beta acid 3, Glucosylceramidase beta 3, Klotho-related protein, Cytosolic GCase, KLrP

swissprot:Q9H227 entrezGene:57733 omim:606619