GBA3

Protein-coding gene in the species Homo sapiens
GBA3
Available structures
PDBHuman UniProt search: PDBe RCSB
List of PDB id codes

2E9L, 2E9M, 2JFE, 2ZOX, 3VKK

Identifiers
AliasesGBA3, CBG, CBGL1, GLUC, KLRP, glucosylceramidase beta 3 (gene/pseudogene)
External IDsOMIM: 606619 GeneCards: GBA3
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for GBA3
Genomic location for GBA3
Band4p15.2Start22,692,914 bp[1]
End22,819,575 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • jejunal mucosa

  • duodenum

  • kidney

  • liver

  • right lobe of liver

  • renal medulla

  • kidney tubule

  • gallbladder

  • glomerulus

  • metanephric glomerulus
    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
SpeciesHumanMouse
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 Mbn/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. ^ a b c 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. ^ a b 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. 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. 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
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