GBA2 explained

GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans.^{[1] [2]} It has glucosylceramidase activity.

Function

This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism.

See also

• Closely related enzymes
  • GBA: acid β-glucosidase (lysosomal),
  • GBA3: acid β-glucosidase (cytosolic),

Further reading

• Land A, Braakman I . Folding of the human immunodeficiency virus type 1 envelope glycoprotein in the endoplasmic reticulum . Biochimie . 83 . 8 . 783–90 . 2001 . 11530211 . 10.1016/S0300-9084(01)01314-1 . 1874/5091 . 13576808 . free .
• Feizi T, Larkin M . AIDS and glycosylation . Glycobiology . 1 . 1 . 17–23 . 1992 . 2136376 . 10.1093/glycob/1.1.17 .
• Boot RG, Verhoek M, Donker-Koopman W . Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2 . J. Biol. Chem. . 282 . 2 . 1305–12 . 2007 . 17105727 . 10.1074/jbc.M610544200 . 24657729 . etal. free . 1887/49963 . free .
• Wolk T, Schreiber M . 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 . 2007 . 16547752 . 10.1007/s00430-006-0016-z . 31347157 .
• Gerhard DS, Wagner L, Feingold EA . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Humphray SJ, Oliver K, Hunt AR . DNA sequence and analysis of human chromosome 9 . Nature . 429 . 6990 . 369–74 . 2004 . 15164053 . 10.1038/nature02465 . 2734081 . 2004Natur.429..369H . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . 21903526 . etal. free .
• Pantophlet R, Wilson IA, Burton DR . Hyperglycosylated Mutants of Human Immunodeficiency Virus (HIV) Type 1 Monomeric gp120 as Novel Antigens for HIV Vaccine Design . J. Virol. . 77 . 10 . 5889–901 . 2003 . 12719582 . 10.1128/JVI.77.10.5889-5901.2003 . 154011 .
• Hart ML, Saifuddin M, Spear GT . 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 . 2003 . 12560567 . 10.1099/vir.0.18734-0 . free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . etal . 2002PNAS...9916899M. free .
• Nagase T, Kikuno R, Nakayama M . Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Res. . 7 . 4 . 273–81 . 2001 . 10997877 . 10.1093/dnares/7.4.271. etal. free .
• Matern H, Heinemann H, Legler G, Matern S . Purification and characterization of a microsomal bile acid beta-glucosidase from human liver . J. Biol. Chem. . 272 . 17 . 11261–7 . 1997 . 9111029 . 10.1074/jbc.272.17.11261 . 33058533 . free .
• Papandreou MJ, Fenouillet E . Effect of various glycosidase treatments on the resistance of the HIV-1 envelope to degradation . FEBS Lett. . 406 . 1–2 . 191–5 . 1997 . 9109416 . 10.1016/S0014-5793(97)00273-1 . 17660 . free .
• Bolmstedt A, Sjölander S, Hansen JE . 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 . 1996 . 8673525 . 10.1097/00042560-199607000-00001. etal. free .
• Yeh JC, Seals JR, Murphy CI . Site-specific N-glycosylation and oligosaccharide structures of recombinant HIV-1 gp120 derived from a baculovirus expression system . Biochemistry . 32 . 41 . 11087–99 . 1993 . 8218172 . 10.1021/bi00092a019 . etal.
• Fenouillet E, Jones I, Powell B . Functional role of the glycan cluster of the human immunodeficiency virus type 1 transmembrane glycoprotein (gp41) ectodomain . J. Virol. . 67 . 1 . 150–60 . 1993 . 8093218 . 10.1128/jvi.67.1.150-160.1993. 237347 . etal.
• Montefiori DC, Robinson WE, Mitchell WM . Role of protein N-glycosylation in pathogenesis of human immunodeficiency virus type 1 . Proc. Natl. Acad. Sci. U.S.A. . 85 . 23 . 9248–52 . 1988 . 3264072 . 10.1073/pnas.85.23.9248 . 282716 . 1988PNAS...85.9248M . free .
• Blough HA, Pauwels R, De Clercq E . Glycosylation inhibitors block the expression of LAV/HTLV-III (HIV) glycoproteins . Biochem. Biophys. Res. Commun. . 141 . 1 . 33–8 . 1987 . 3099781 . 10.1016/S0006-291X(86)80330-8 . etal.

Notes and References

1. Matern H, Boermans H, Lottspeich F, Matern S . Molecular cloning and expression of human bile acid beta-glucosidase . J Biol Chem . 276 . 41 . 37929–33 . Oct 2001 . 11489889 . 10.1074/jbc.M104290200 . free .
2. Web site: Entrez Gene: GBA2 glucosidase, beta (bile acid) 2.