| Background | The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013] |
| 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. |
| Post Translational Modifications | The N-terminus is blocked. |
| Function | Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides. Has a significant glucosylceramidase activity in vitro. However, that activity is relatively low and its significance in vivo is not clear. Also able to hydrolyze galactosylceramide/GalCer, glucosylsphingosine/GlcSph and galactosylsphingosine/GalSph. However, the in vivo relevance of these activities is unclear. 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. Could also play a role in the catabolism of cytosolic sialyl free N-glycans. |
| Database Links | Reactome: R-HSA-1660662 |
| Cellular Localisation | CytoplasmCytosol |
| Protein Name | Cytosolic Beta-GlucosidaseCytosolic Beta-Glucosidase-Like Protein 1Cytosolic GlycosylceramidaseCytosolic GcaseGlucosidase Beta Acid 3Glucosylceramidase Beta 3Klotho-Related ProteinKlrp |
| Alternative Names | Anti-Cytosolic Beta-Glucosidase antibodyAnti-Cytosolic Beta-Glucosidase-Like Protein 1 antibodyAnti-Cytosolic Glycosylceramidase antibodyAnti-Cytosolic Gcase antibodyAnti-Glucosidase Beta Acid 3 antibodyAnti-Glucosylceramidase Beta 3 antibodyAnti-Klotho-Related Protein antibodyAnti-Klrp antibodyAnti-GBA3 antibodyAnti-CBG antibodyAnti-CBGL1 antibody |
Information sourced from uniprot.org
