GBA3

Glucosidase, beta, acid 3 (gene/pseudogene)
Rendering based on PDB 2E9L​.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2E9L​, 2E9M​, 2JFE​, 2ZOX​, 3VKK​
Identifiers
Symbols	GBA3 ; CBG; CBGL1; GLUC; KLRP
External IDs	OMIM: 606619 HomoloGene: 75140 ChEMBL: 3865 GeneCards: GBA3 Gene
EC number	3.2.1.21
Gene ontology Molecular function • beta-galactosidase activity • beta-glucosidase activity • glycosylceramidase activity Cellular component • cytosol Biological process • carbohydrate metabolic process • sphingolipid metabolic process • glycosphingolipid metabolic process • glycoside catabolic process • small molecule metabolic process • glycosylceramide 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	n/a
RefSeq (protein)	NP_001121904	n/a
Location (UCSC)	Chr 4: 22.69 – 22.82 Mb	n/a
PubMed search		n/a

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.^[1][2]

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.^[2] 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.^[3]

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

References

1. "Entrez Gene: glucosidase".
2. de Graaf M, van Veen IC, van der Meulen-Muileman IH, Gerritsen WR, Pinedo HM, Haisma HJ (June 2001). "Cloning and characterization of human liver cytosolic beta-glycosidase". Biochem. J. 356 (Pt 3): 907–10. doi:10.1042/0264-6021:3560907. PMC 1221920. PMID 11389701.
3. Hayashi Y, Okino N, Kakuta Y, Shikanai T, Tani M, Narimatsu H, Ito M (October 2007). "Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase". J. Biol. Chem. 282 (42): 30889–900. doi:10.1074/jbc.M700832200. PMID 17595169.

Further reading

• Bolmstedt A, Sjölander S, Hansen JE, Akerblom L, Hemming A, Hu SL, Morein B, Olofsson S (July 1996). "Influence of N-linked glycans in V4-V5 region of human immunodeficiency virus type 1 glycoprotein gp160 on induction of a virus-neutralizing humoral response". J. Acquir. Immune Defic. Syndr. Hum. Retrovirol. 12 (3): 213–20. doi:10.1097/00042560-199607000-00001. PMID 8673525.
• Beutler E, Beutler L, West C (2004). "Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.". J. Lab. Clin. Med. 144 (2): 65–8. doi:10.1016/j.lab.2004.03.013. PMID 15322500.
• Yahata K, Mori K, Arai H; et al. (2000). "Molecular cloning and expression of a novel klotho-related protein.". J. Mol. Med. 78 (7): 389–94. doi:10.1007/s001090000131. PMID 11043382.
• Pantophlet R, Wilson IA, Burton DR (2003). "Hyperglycosylated mutants of human immunodeficiency virus (HIV) type 1 monomeric gp120 as novel antigens for HIV vaccine design.". J. Virol. 77 (10): 5889–901. doi:10.1128/JVI.77.10.5889-5901.2003. PMC 154011. PMID 12719582.
• Tribolo S, Berrin JG, Kroon PA; et al. (2007). "The crystal structure of human cytosolic beta-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase.". J. Mol. Biol. 370 (5): 964–75. doi:10.1016/j.jmb.2007.05.034. PMID 17555766.
• Noguchi J, Hayashi Y, Baba Y; et al. (2008). "Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase.". Biochem. Biophys. Res. Commun. 374 (3): 549–52. doi:10.1016/j.bbrc.2008.07.089. PMID 18662675.
• Berrin JG, Czjzek M, Kroon PA; et al. (2003). "Substrate (aglycone) specificity of human cytosolic beta-glucosidase.". Biochem. J. 373 (Pt 1): 41–8. doi:10.1042/BJ20021876. PMC 1223474. PMID 12667141.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Wolk T, Schreiber M (2006). "N-Glycans in the gp120 V1/V2 domain of the HIV-1 strain NL4-3 are indispensable for viral infectivity and resistance against antibody neutralization.". Med. Microbiol. Immunol. 195 (3): 165–72. doi:10.1007/s00430-006-0016-z. PMID 16547752.
• Papandreou MJ, Fenouillet E (1997). "Effect of various glycosidase treatments on the resistance of the HIV-1 envelope to degradation.". FEBS Lett. 406 (1-2): 191–5. doi:10.1016/S0014-5793(97)00273-1. PMID 9109416.
• Dekker N, Voorn-Brouwer T, Verhoek M; et al. (2010). "The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.". Blood Cells Mol. Dis. 46 (1): HASH(0x26e7390). doi:10.1016/j.bcmd.2010.07.009. PMID 20728381.
• Berrin JG, McLauchlan WR, Needs P; et al. (2002). "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides.". Eur. J. Biochem. 269 (1): 249–58. doi:10.1046/j.0014-2956.2001.02641.x. PMID 11784319.
• Feizi T, Larkin M (1990). "AIDS and glycosylation.". Glycobiology 1 (1): 17–23. doi:10.1093/glycob/1.1.17. PMID 2136376.
• Németh K, Plumb GW, Berrin JG; et al. (2003). "Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans.". Eur J Nutr 42 (1): 29–42. doi:10.1007/s00394-003-0397-3. PMID 12594539.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Land A, Braakman I (2001). "Folding of the human immunodeficiency virus type 1 envelope glycoprotein in the endoplasmic reticulum.". Biochimie 83 (8): 783–90. doi:10.1016/S0300-9084(01)01314-1. PMID 11530211.
• Hart ML, Saifuddin M, Spear GT (2003). "Glycosylation inhibitors and neuraminidase enhance human immunodeficiency virus type 1 binding and neutralization by mannose-binding lectin.". J. Gen. Virol. 84 (Pt 2): 353–60. doi:10.1099/vir.0.18734-0. PMID 12560567.