GBA3

Cytosolic beta-glucosidase, also known as cytosolic beta-glucosidase-like protein 1, is a beta-glucosidase (EC 3.2.1.21) enzyme that in humans is encoded by the GBA3 gene.^[3][4]

GBA3
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2E9L, 2E9M, 2JFE, 2ZOX, 3VKK
Identifiers
Aliases	GBA3, CBG, CBGL1, GLUC, KLRP, glucosylceramidase beta 3 (gene/pseudogene)
External IDs	OMIM: 606619; GeneCards: GBA3; OMA:GBA3 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p15.2 Start 22,692,914 bp[1] End 22,819,575 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa mucosa of ileum duodenum human kidney liver right lobe of liver renal medulla kidney tubule buccal mucosa cell testicle n/a More reference expression data BioGPS n/a
Gene ontology Molecular function beta-galactosidase activity glycosylceramidase activity hydrolase activity, hydrolyzing O-glycosyl compounds beta-glucosidase activity hydrolase activity hydrolase activity, acting on glycosyl bonds scopolin beta-glucosidase activity glucosylceramidase activity protein binding galactosylceramidase activity Cellular component cytoplasm cytosol catalytic complex Biological process glycosylceramide catabolic process metabolism glycosphingolipid metabolic process glycoside catabolic process protein stabilization cellular oligosaccharide catabolic process positive regulation of exo-alpha-sialidase activity carbohydrate metabolic process glucosylceramide catabolic process galactosylceramide catabolic process beta-glucoside catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57733 n/a Ensembl ENSG00000249948 n/a UniProt Q9H227 n/a RefSeq (mRNA) NM_001128432 NM_001277225 NM_020973 n/a RefSeq (protein) NP_001121904 NP_001264154 NP_066024 n/a Location (UCSC) Chr 4: 22.69 – 22.82 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Function

Cytosolic beta-glucosidase is a predominantly liver enzyme that efficiently hydrolyzes beta-D-glucoside and beta-D-galactoside, but not any known physiologic beta-glycoside, suggesting that it may be involved in detoxification of plant glycosides.^[4] GBA3 also has significant neutral glycosylceramidase activity (EC 3.2.1.62), suggesting that it may be involved in a non-lysosomal catabolic pathway of glucosylceramide metabolism.^[5]

See also

• Closely related enzymes
  • GBA: acid β-glucosidase, EC 3.2.1.45
  • GBA2: acid β-glucosidase (bile acid), also EC 3.2.1.45