GBA3

Functionⁱ

Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens. Possesses beta-glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide.3 Publications

Catalytic activityⁱ

Hydrolysis of terminal, non-reducing beta-D-glucosyl residues with release of beta-D-glucose.

Enzyme regulationⁱ

Inhibited by 2,4-dinitrophenyl-2-fluoro-2-deoxy-beta-D-glucopyranoside and sodium taurocholate.2 Publications

Kineticsⁱ

K_M=
40 µM for 4-methylumbelliferyl-beta-D-glucopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
50 µM for 4-methylumbelliferyl-beta-D-galactopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
370 µM for 4-nitrophenyl-beta-D-fucopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
570 µM for 4-nitrophenyl-alpha-D-arabinopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
1.76 mM for 4-nitrophenyl-beta-D-glucopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
3.14 mM for 4-nitrophenyl-beta-D-galactopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
1.58 mM for 4-nitrophenyl-beta-D-xylopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
52.6 mM for 4-nitrophenyl-beta-L-arabinopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
35 µM for genistein-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
118 µM for daidzein-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
31.8 µM for quercetin-4'-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
42.2 µM for quercetin-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
21.5 µM for apigenin-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
10 µM for luteolin-4'-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
50 µM for luteolin-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
432 µM for naringenin-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
K_M=
253 µM for eriodictyol-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.

V_max=
10 µmol/min/mg enzyme toward 4-nitrophenyl-beta-D-glucopyranoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
1.73 µmol/min/mg enzyme toward genistein-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
2.75 µmol/min/mg enzyme toward daidzein-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
1.19 µmol/min/mg enzyme toward quercetin-4'-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
0.77 µmol/min/mg enzyme toward quercetin-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
1.30 µmol/min/mg enzyme toward apigenin-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
1.30 µmol/min/mg enzyme toward luteolin-4'-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
2.85 µmol/min/mg enzyme toward luteolin-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
0.93 µmol/min/mg enzyme toward naringenin-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
V_max=
0.90 µmol/min/mg enzyme toward eriodictyol-7-glucoside
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Cloning and characterization of human liver cytosolic beta-glycosidase."
  de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J.
  Biochem. J. 356:907-910(2001) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
- Ref.3
  "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides."
  Berrin J.-G., McLauchlan W.R., Needs P., Williamson G., Puigserver A., Kroon P.A., Juge N.
  Eur. J. Biochem. 269:249-258(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BLOCKAGE OF N-TERMINUS, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.

pH dependenceⁱ

Optimum pH is 6.5. Active from pH 5 to 7.5. Activity decreases sharply with increasing acidity and is less than 4% at pH 4.2 Publications

Temperature dependenceⁱ

Optimum temperature is 50 degrees Celsius. Stable more than 24 hours at 37 degrees Celsius. Loses activity at 58 degrees Celsius.2 Publications

Sites

Feature key	Position(s)	Length	Description
Binding siteⁱ	17 – 17	1	Substrate
Binding siteⁱ	120 – 120	1	Substrate
Binding siteⁱ	164 – 164	1	Substrate
Active siteⁱ	165 – 165	1	Proton donorSequence analysis
Binding siteⁱ	309 – 309	1	Substrate
Active siteⁱ	373 – 373	1	NucleophileSequence analysis
Binding siteⁱ	417 – 417	1	Substrate

GO - Molecular functionⁱ

beta-galactosidase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 11389701
- 17595169
beta-glucosidase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 17595169
glucosylceramidase activity Source: Reactome
glycosylceramidase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 17595169
scopolin beta-glucosidase activity Source: UniProtKB-EC

GO - Biological processⁱ

carbohydrate metabolic process Source: InterPro
glycoside catabolic process
Source: UniProtKB
Inferred from direct assayⁱ
- 11389701
glycosphingolipid metabolic process Source: Reactome
glycosylceramide catabolic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17595169

Complete GO annotation...

Keywords - Molecular functionⁱ

Glycosidase, Hydrolase

Enzyme and pathway databases

BRENDAⁱ	3.2.1.21. 2681.
Reactomeⁱ	R-HSA-1660662. Glycosphingolipid metabolism.
SABIO-RK	Q9H227.

Protein family/group databases

CAZyⁱ	GH1. Glycoside Hydrolase Family 1.

CAZyⁱ

GH1. Glycoside Hydrolase Family 1.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Cytosolic beta-glucosidase (EC:3.2.1.21) Alternative name(s): Cytosolic beta-glucosidase-like protein 1
Gene namesⁱ	Name:GBA3 Synonyms:CBG, CBGL1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Unplaced

Organism-specific databases

HGNCⁱ	HGNC:19069. GBA3.

HGNCⁱ

HGNC:19069. GBA3.

Subcellular locationⁱ

Cytoplasm › cytosol
2 Publications
Manual assertion based on experiment inⁱ
- Ref.8
  "Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans."
  Nemeth K., Plumb G.W., Berrin J.-G., Juge N., Jacob R., Naim H.Y., Williamson G., Swallow D.M., Kroon P.A.
  Eur. J. Nutr. 42:29-42(2003) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
- Ref.9
  "Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase."
  Hayashi Y., Okino N., Kakuta Y., Shikanai T., Tani M., Narimatsu H., Ito M.
  J. Biol. Chem. 282:30889-30900(2007) [PubMed] [Europe PMC] [Abstract]
  Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) IN COMPLEX WITH GLUCOSE AND GALACTOSE, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLU-165 AND GLU-373.

GO - Cellular componentⁱ

cytosol
Source: UniProtKB
Inferred from direct assayⁱ
- 17595169

Complete GO annotation...

Keywords - Cellular componentⁱ

Cytoplasm

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	Length	Description
Mutagenesisⁱ	165 – 165	1	E → D: Reduces catalytic activity 2-fold. 2 Publications Manual assertion based on experiment inⁱ Ref.9 "Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase." Hayashi Y., Okino N., Kakuta Y., Shikanai T., Tani M., Narimatsu H., Ito M. J. Biol. Chem. 282:30889-30900(2007) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) IN COMPLEX WITH GLUCOSE AND GALACTOSE, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLU-165 AND GLU-373. Ref.11 "Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase." Noguchi J., Hayashi Y., Baba Y., Okino N., Kimura M., Ito M., Kakuta Y. Biochem. Biophys. Res. Commun. 374:549-552(2008) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) IN COMPLEX WITH GLUCOSE, MUTAGENESIS OF GLU-165.
Mutagenesisⁱ	165 – 165	1	E → Q: Loss of catalytic activity. 2 Publications Manual assertion based on experiment inⁱ Ref.9 "Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase." Hayashi Y., Okino N., Kakuta Y., Shikanai T., Tani M., Narimatsu H., Ito M. J. Biol. Chem. 282:30889-30900(2007) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) IN COMPLEX WITH GLUCOSE AND GALACTOSE, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLU-165 AND GLU-373. Ref.11 "Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase." Noguchi J., Hayashi Y., Baba Y., Okino N., Kimura M., Ito M., Kakuta Y. Biochem. Biophys. Res. Commun. 374:549-552(2008) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) IN COMPLEX WITH GLUCOSE, MUTAGENESIS OF GLU-165.
Mutagenesisⁱ	168 – 168	1	V → Y: No change in temperature or pH dependence. Decrease in specific activity. 1 Publication Manual assertion based on experiment inⁱ Ref.7 "Substrate (aglycone) specificity of human cytosolic beta-glucosidase." Berrin J.-G., Czjzek M., Kroon P.A., McLauchlan W.R., Puigserver A., Williamson G., Juge N. Biochem. J. 373:41-48(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF VAL-168; PHE-225 AND TYR-308.
Mutagenesisⁱ	225 – 225	1	F → S: Decrease in specific activity. 1 Publication Manual assertion based on experiment inⁱ Ref.7 "Substrate (aglycone) specificity of human cytosolic beta-glucosidase." Berrin J.-G., Czjzek M., Kroon P.A., McLauchlan W.R., Puigserver A., Williamson G., Juge N. Biochem. J. 373:41-48(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF VAL-168; PHE-225 AND TYR-308.
Mutagenesisⁱ	308 – 308	1	Y → F or A: Decrease in specific activity. 1 Publication Manual assertion based on experiment inⁱ Ref.7 "Substrate (aglycone) specificity of human cytosolic beta-glucosidase." Berrin J.-G., Czjzek M., Kroon P.A., McLauchlan W.R., Puigserver A., Williamson G., Juge N. Biochem. J. 373:41-48(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF VAL-168; PHE-225 AND TYR-308.
Mutagenesisⁱ	373 – 373	1	E → D: Reduces catalytic activity 2-fold. 1 Publication Manual assertion based on experiment inⁱ Ref.9 "Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase." Hayashi Y., Okino N., Kakuta Y., Shikanai T., Tani M., Narimatsu H., Ito M. J. Biol. Chem. 282:30889-30900(2007) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) IN COMPLEX WITH GLUCOSE AND GALACTOSE, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLU-165 AND GLU-373.
Mutagenesisⁱ	373 – 373	1	E → Q: Loss of catalytic activity. 1 Publication Manual assertion based on experiment inⁱ Ref.9 "Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase." Hayashi Y., Okino N., Kakuta Y., Shikanai T., Tani M., Narimatsu H., Ito M. J. Biol. Chem. 282:30889-30900(2007) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) IN COMPLEX WITH GLUCOSE AND GALACTOSE, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLU-165 AND GLU-373.

Organism-specific databases

PharmGKBⁱ	PA134861643.

PharmGKBⁱ

PA134861643.

Chemistry

ChEMBLⁱ	CHEMBL3865.

ChEMBLⁱ

CHEMBL3865.

Polymorphism and mutation databases

DMDMⁱ	77416427.

DMDMⁱ

77416427.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Chainⁱ	1 – 469	469	Cytosolic beta-glucosidase		PRO_0000063908	Add BLAST

Post-translational modificationⁱ

The N-terminus is blocked.

Proteomic databases

EPDⁱ	Q9H227.
PaxDbⁱ	Q9H227.
PeptideAtlasⁱ	Q9H227.
PRIDEⁱ	Q9H227.

PTM databases

iPTMnetⁱ	Q9H227.
PhosphoSiteⁱ	Q9H227.

Expressionⁱ

Tissue specificityⁱ

Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas.2 Publications

Gene expression databases

CleanExⁱ	HS_GBA3.

CleanExⁱ

HS_GBA3.

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	121753. 2 interactions.
IntActⁱ	Q9H227. 2 interactions.
STRINGⁱ	9606.ENSP00000471397.

Chemistry

BindingDBⁱ

Q9H227.

Structureⁱ

Secondary structure

1

469

Legend: HelixTurnBeta strand

Show more details

Feature key	Position(s)	Length	Description
Beta strandⁱ	8 – 12	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	15 – 18	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	24 – 26	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	31 – 38	8	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	40 – 43	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	44 – 46	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	49 – 51	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Turnⁱ	55 – 57	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	59 – 69	11	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	72 – 77	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	80 – 83	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	94 – 109	16	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	113 – 121	9	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	125 – 129	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	132 – 134	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	138 – 153	16	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Turnⁱ	154 – 156	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	159 – 164	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	166 – 174	9	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Turnⁱ	186 – 188	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	189 – 211	23	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	213 – 216	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	219 – 221	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	223 – 233	11	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	237 – 250	14	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	252 – 259	8	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	266 – 278	13	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	291 – 297	7	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	302 – 316	15	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	326 – 330	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	332 – 335	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	351 – 363	13	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	369 – 374	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	378 – 381	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	387 – 405	19	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	411 – 417	7	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	425 – 430	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	435 – 438	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Beta strandⁱ	442 – 444	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2JFE
Beta strandⁱ	447 – 449	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L
Helixⁱ	451 – 462	12	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2E9L

3D structure databases

Select the link destinations:
PDBeⁱ
RCSB PDBⁱ
PDBjⁱ

Links Updated

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2E9L	X-ray	1.60	A	1-469	[»]
2E9M	X-ray	1.80	A	1-469	[»]
2JFE	X-ray	2.70	X	1-469	[»]
2ZOX	X-ray	1.90	A	1-469	[»]
3VKK	X-ray	2.00	A	1-469	[»]

ProteinModelPortalⁱ

Q9H227.

SMRⁱ

Q9H227. Positions 1-466.

ModBaseⁱ

Search...

MobiDBⁱ

Search...

Miscellaneous databases

EvolutionaryTraceⁱ

Q9H227.

Family & Domainsⁱ

Region

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Regionⁱ	424 – 425	2	Substrate bindingBy similarity

Sequence similaritiesⁱ

Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.Curated

Phylogenomic databases

eggNOGⁱ	KOG0626. Eukaryota. COG2723. LUCA.
HOVERGENⁱ	HBG053101.
InParanoidⁱ	Q9H227.
KOⁱ	K05350.
PhylomeDBⁱ	Q9H227.

Family and domain databases

Gene3Dⁱ	3.20.20.80. 1 hit.
InterProⁱ	IPR001360. Glyco_hydro_1. IPR033132. Glyco_hydro_1_N_CS. IPR013781. Glyco_hydro_catalytic_dom. IPR017853. Glycoside_hydrolase_SF. [Graphical view]
PANTHERⁱ	PTHR10353. PTHR10353. 1 hit.
Pfamⁱ	PF00232. Glyco_hydro_1. 1 hit. [Graphical view]
PRINTSⁱ	PR00131. GLHYDRLASE1.
SUPFAMⁱ	SSF51445. SSF51445. 1 hit.
PROSITEⁱ	PS00653. GLYCOSYL_HYDROL_F1_2. 1 hit. [Graphical view]

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q9H227-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAFPAGFGWA AATAAYQVEG GWDADGKGPC VWDTFTHQGG ERVFKNQTGD 
        60         70         80         90        100
VACGSYTLWE EDLKCIKQLG LTHYRFSLSW SRLLPDGTTG FINQKGIDYY 
       110        120        130        140        150
NKIIDDLLKN GVTPIVTLYH FDLPQTLEDQ GGWLSEAIIE SFDKYAQFCF 
       160        170        180        190        200
STFGDRVKQW ITINEANVLS VMSYDLGMFP PGIPHFGTGG YQAAHNLIKA 
       210        220        230        240        250
HARSWHSYDS LFRKKQKGMV SLSLFAVWLE PADPNSVSDQ EAAKRAITFH 
       260        270        280        290        300
LDLFAKPIFI DGDYPEVVKS QIASMSQKQG YPSSRLPEFT EEEKKMIKGT 
       310        320        330        340        350
ADFFAVQYYT TRLIKYQENK KGELGILQDA EIEFFPDPSW KNVDWIYVVP 
       360        370        380        390        400
WGVCKLLKYI KDTYNNPVIY ITENGFPQSD PAPLDDTQRW EYFRQTFQEL 
       410        420        430        440        450
FKAIQLDKVN LQVYCAWSLL DNFEWNQGYS SRFGLFHVDF EDPARPRVPY 
       460 
TSAKEYAKII RNNGLEAHL

Length:469

Mass (Da):53,696

Last modified:October 11, 2005 - v2

Checksum:ⁱ9036455485CE2E2F

GO

Isoform 2 (identifier: Q9H227-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
95-401: Missing.

« Hide

        10         20         30         40         50
MAFPAGFGWA AATAAYQVEG GWDADGKGPC VWDTFTHQGG ERVFKNQTGD 
        60         70         80         90        100
VACGSYTLWE EDLKCIKQLG LTHYRFSLSW SRLLPDGTTG FINQKAIQLD 
       110        120        130        140        150
KVNLQVYCAW SLLDNFEWNQ GYSSRFGLFH VDFEDPARPR VPYTSAKEYA 
       160 
KIIRNNGLEA HL

Show »

Length:162

Mass (Da):18,265

Checksum:ⁱAC2A05DB957E6997

GO

Experimental Info

Feature key	Position(s)	Length	Description
Sequence conflictⁱ	29 – 29	1	P → L in AAH70188 (PubMed:15489334).Curated
Sequence conflictⁱ	134 – 134	1	L → W in AAG39217 (PubMed:11784319).Curated
Sequence conflictⁱ	309 – 309	1	Y → C in BAD96683 (Ref. 5) Curated
Sequence conflictⁱ	321 – 321	1	K → R in BAD96683 (Ref. 5) Curated
Sequence conflictⁱ	326 – 326	1	I → T in CAC08178 (PubMed:11389701).Curated

Natural variant

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	106 – 106	1	D → N Rare polymorphism. 1 Publication Manual assertion based on experiment inⁱ Ref.12 "Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease." Beutler E., Beutler L., West C. J. Lab. Clin. Med. 144:65-68(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ASN-106.	VAR_023587
Natural variantⁱ	172 – 172	1	M → I. Corresponds to variant rs36090352 [ dbSNP \| Ensembl ].	VAR_049298
Natural variantⁱ	213 – 213	1	R → P. Corresponds to variant rs17612341 [ dbSNP \| Ensembl ].	VAR_023588
Natural variantⁱ	354 – 354	1	C → R. Corresponds to variant rs16873108 [ dbSNP \| Ensembl ].	VAR_023589

Alternative sequence

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Alternative sequenceⁱ	95 – 401	307	Missing in isoform 2. 1 Publication Manual assertion based on opinion inⁱ Ref.6 "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).		VSP_015835	Add BLAST

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AB017913 mRNA. Translation: BAB18741.1. AJ278964 mRNA. Translation: CAC08178.1. AF317840 mRNA. Translation: AAG39217.1. AF323990 mRNA. Translation: AAL37305.1. AK222963 mRNA. Translation: BAD96683.1. BC029362 mRNA. Translation: AAH29362.1. BC070188 mRNA. Translation: AAH70188.1. BC101829 mRNA. Translation: AAI01830.1. BC109377 mRNA. Translation: AAI09378.1.
RefSeqⁱ	NP_001121904.1. NM_001128432.2. [Q9H227-2] NP_001264154.1. NM_001277225.1. NP_066024.1. NM_020973.4. [Q9H227-1]
UniGeneⁱ	Hs.653107.

Genome annotation databases

GeneIDⁱ	57733.
KEGGⁱ	hsa:57733.

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AB017913 mRNA. Translation: BAB18741.1. AJ278964 mRNA. Translation: CAC08178.1. AF317840 mRNA. Translation: AAG39217.1. AF323990 mRNA. Translation: AAL37305.1. AK222963 mRNA. Translation: BAD96683.1. BC029362 mRNA. Translation: AAH29362.1. BC070188 mRNA. Translation: AAH70188.1. BC101829 mRNA. Translation: AAI01830.1. BC109377 mRNA. Translation: AAI09378.1.
RefSeqⁱ	NP_001121904.1. NM_001128432.2. [Q9H227-2] NP_001264154.1. NM_001277225.1. NP_066024.1. NM_020973.4. [Q9H227-1]
UniGeneⁱ	Hs.653107.

3D structure databases

Select the link destinations:
PDBeⁱ
RCSB PDBⁱ
PDBjⁱ

Links Updated

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2E9L	X-ray	1.60	A	1-469	[»]
2E9M	X-ray	1.80	A	1-469	[»]
2JFE	X-ray	2.70	X	1-469	[»]
2ZOX	X-ray	1.90	A	1-469	[»]
3VKK	X-ray	2.00	A	1-469	[»]

ProteinModelPortalⁱ

Q9H227.

SMRⁱ

Q9H227. Positions 1-466.

ModBaseⁱ

Search...

MobiDBⁱ

Search...

Protein-protein interaction databases

BioGridⁱ	121753. 2 interactions.
IntActⁱ	Q9H227. 2 interactions.
STRINGⁱ	9606.ENSP00000471397.

Chemistry

BindingDBⁱ	Q9H227.
ChEMBLⁱ	CHEMBL3865.

Protein family/group databases

CAZyⁱ	GH1. Glycoside Hydrolase Family 1.

CAZyⁱ

GH1. Glycoside Hydrolase Family 1.

PTM databases

iPTMnetⁱ	Q9H227.
PhosphoSiteⁱ	Q9H227.

Polymorphism and mutation databases

DMDMⁱ	77416427.

DMDMⁱ

77416427.

Proteomic databases

EPDⁱ	Q9H227.
PaxDbⁱ	Q9H227.
PeptideAtlasⁱ	Q9H227.
PRIDEⁱ	Q9H227.

Protocols and materials databases

DNASUⁱ	57733.
Structural Biology Knowledgebase	Search...

Genome annotation databases

GeneIDⁱ	57733.
KEGGⁱ	hsa:57733.

Organism-specific databases

CTDⁱ	57733.
GeneCardsⁱ	GBA3.
HGNCⁱ	HGNC:19069. GBA3.
MIMⁱ	606619. gene.
neXtProtⁱ	NX_Q9H227.
PharmGKBⁱ	PA134861643.
GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0626. Eukaryota. COG2723. LUCA.
HOVERGENⁱ	HBG053101.
InParanoidⁱ	Q9H227.
KOⁱ	K05350.
PhylomeDBⁱ	Q9H227.

Enzyme and pathway databases

BRENDAⁱ	3.2.1.21. 2681.
Reactomeⁱ	R-HSA-1660662. Glycosphingolipid metabolism.
SABIO-RK	Q9H227.

Miscellaneous databases

EvolutionaryTraceⁱ	Q9H227.
GeneWikiⁱ	GBA3.
GenomeRNAiⁱ	57733.
PROⁱ	Q9H227.
SOURCEⁱ	Search...

Gene expression databases

CleanExⁱ	HS_GBA3.

CleanExⁱ

HS_GBA3.

Family and domain databases

Gene3Dⁱ	3.20.20.80. 1 hit.
InterProⁱ	IPR001360. Glyco_hydro_1. IPR033132. Glyco_hydro_1_N_CS. IPR013781. Glyco_hydro_catalytic_dom. IPR017853. Glycoside_hydrolase_SF. [Graphical view]
PANTHERⁱ	PTHR10353. PTHR10353. 1 hit.
Pfamⁱ	PF00232. Glyco_hydro_1. 1 hit. [Graphical view]
PRINTSⁱ	PR00131. GLHYDRLASE1.
SUPFAMⁱ	SSF51445. SSF51445. 1 hit.
PROSITEⁱ	PS00653. GLYCOSYL_HYDROL_F1_2. 1 hit. [Graphical view]
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ

GBA3_HUMAN

Accessionⁱ

Primary (citable) accession number: Q9H227
Secondary accession number(s): Q32LY7

Q9H4C6

Entry historyⁱ

Integrated into UniProtKB/Swiss-Prot:	October 11, 2005
Last sequence update:	October 11, 2005
Last modified:	July 6, 2016
This is version 135 of the entry and version 2 of the sequence. [Complete history]

Entry statusⁱ

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries
Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9H227 (GBA3_HUMAN)

UniProt

Q9H227 - GBA3_HUMAN

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Cytosolic beta-glucosidase

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<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functioni

<p>Describes an enzyme regulatory mechanism and reports the components which regulate (by activation or inhibition) the reaction.</p><p><a href='../manual/enzyme_regulation' target='_top'>More...</a></p>Enzyme regulationi

<p>Describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.</p><p><a href='../manual/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

<p>Describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.</p><p><a href='../manual/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

<p>Describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.</p><p><a href='../manual/biophysicochemical_properties' target='_top'>More...</a></p>Temperature dependencei

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Organism-specific databases

Chemistry

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Chemistry

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (2)i

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

Functionⁱ

Enzyme regulationⁱ

Kineticsⁱ

pH dependenceⁱ

Temperature dependenceⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (2)ⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ