GBA3

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

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]}

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

References

1. GRCh38: Ensembl release 89: ENSG00000249948 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Entrez Gene: glucosidase".
4. 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.
5. 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. S2CID   20851692.
• 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. Bibcode:2008BBRC..374..549N. 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. S2CID   31347157.
• 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. Bibcode:1997FEBSL.406..191P. doi: 10.1016/S0014-5793(97)00273-1 . PMID   9109416. S2CID   17660.
• 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): 19–26. 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. S2CID   20146480.
• 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. Bibcode:2002PNAS...9916899M. 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. hdl: 1874/5091 . PMID   11530211. S2CID   13576808.
• 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.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Human Cytosolic beta-glucosidase