UniProt Protein Function: | GBA3: Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens. Possesses beta- glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide. Belongs to the glycosyl hydrolase 1 family. Klotho subfamily. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Carbohydrate Metabolism - starch and sucrose; Hydrolase; EC 3.2.1.21; Other Amino Acids Metabolism - cyanoamino acid Chromosomal Location of Human Ortholog: 4p15.2 Cellular Component: cytosol Molecular Function:beta-galactosidase activity; beta-glucosidase activity; glucosylceramidase activity; glycosylceramidase activity Biological Process: glycoside catabolic process; glycosphingolipid metabolic process; glycosylceramide catabolic process |
NCBI Summary: | 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] |
UniProt Code: | Q9H227 |
NCBI GenInfo Identifier: | 77416427 |
NCBI Gene ID: | 57733 |
NCBI Accession: | Q9H227.2 |
UniProt Secondary Accession: | Q9H227,Q32LY7, Q3MIH4, Q53GG8, Q6NSF4, Q8NHT8, Q9H3T4 Q9H4C6, |
UniProt Related Accession: | Q9H227 |
Molecular Weight: | 18,265 Da |
NCBI Full Name: | Cytosolic beta-glucosidase |
NCBI Synonym Full Names: | glucosylceramidase beta 3 (gene/pseudogene) |
NCBI Official Symbol: | GBA3 |
NCBI Official Synonym Symbols: | CBG; GLUC; KLRP; CBGL1 |
NCBI Protein Information: | cytosolic beta-glucosidase |
UniProt Protein Name: | Cytosolic beta-glucosidase |
UniProt Synonym Protein Names: | Cytosolic beta-glucosidase-like protein 1 |
Protein Family: | Cytosolic beta-glucosidase |
UniProt Gene Name: | GBA3 |
UniProt Entry Name: | GBA3_HUMAN |