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2NSX

Structure of acid-beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

Functional Information from GO Data
ChainGOidnamespacecontents
A0004336molecular_functiongalactosylceramidase activity
A0004348molecular_functionglucosylceramidase activity
A0005102molecular_functionsignaling receptor binding
A0005124molecular_functionscavenger receptor binding
A0005515molecular_functionprotein binding
A0005615cellular_componentextracellular space
A0005764cellular_componentlysosome
A0005765cellular_componentlysosomal membrane
A0005783cellular_componentendoplasmic reticulum
A0005794cellular_componentGolgi apparatus
A0005802cellular_componenttrans-Golgi network
A0006665biological_processsphingolipid metabolic process
A0006678biological_processglucosylceramide metabolic process
A0006680biological_processglucosylceramide catabolic process
A0006914biological_processautophagy
A0007005biological_processmitochondrion organization
A0007040biological_processlysosome organization
A0007417biological_processcentral nervous system development
A0008203biological_processcholesterol metabolic process
A0008340biological_processdetermination of adult lifespan
A0008422molecular_functionbeta-glucosidase activity
A0009267biological_processcellular response to starvation
A0009268biological_processresponse to pH
A0014004biological_processmicroglia differentiation
A0016020cellular_componentmembrane
A0016241biological_processregulation of macroautophagy
A0016757molecular_functionglycosyltransferase activity
A0016787molecular_functionhydrolase activity
A0016798molecular_functionhydrolase activity, acting on glycosyl bonds
A0019882biological_processantigen processing and presentation
A0019915biological_processlipid storage
A0021694biological_processcerebellar Purkinje cell layer formation
A0021859biological_processpyramidal neuron differentiation
A0022904biological_processrespiratory electron transport chain
A0023021biological_processtermination of signal transduction
A0030259biological_processlipid glycosylation
A0031175biological_processneuron projection development
A0031333biological_processnegative regulation of protein-containing complex assembly
A0032006biological_processregulation of TOR signaling
A0032436biological_processpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
A0032715biological_processnegative regulation of interleukin-6 production
A0033077biological_processT cell differentiation in thymus
A0033574biological_processresponse to testosterone
A0035307biological_processobsolete positive regulation of protein dephosphorylation
A0042391biological_processregulation of membrane potential
A0043161biological_processproteasome-mediated ubiquitin-dependent protein catabolic process
A0043202cellular_componentlysosomal lumen
A0043243biological_processpositive regulation of protein-containing complex disassembly
A0043407biological_processnegative regulation of MAP kinase activity
A0043524biological_processnegative regulation of neuron apoptotic process
A0043627biological_processresponse to estrogen
A0046512biological_processsphingosine biosynthetic process
A0046513biological_processceramide biosynthetic process
A0046527molecular_functionglucosyltransferase activity
A0048469biological_processcell maturation
A0048854biological_processbrain morphogenesis
A0048872biological_processhomeostasis of number of cells
A0050295molecular_functionsteryl-beta-glucosidase activity
A0050728biological_processnegative regulation of inflammatory response
A0050877biological_processnervous system process
A0050905biological_processneuromuscular process
A0051246biological_processregulation of protein metabolic process
A0051248biological_processnegative regulation of protein metabolic process
A0051402biological_processneuron apoptotic process
A0061436biological_processestablishment of skin barrier
A0061518biological_processmicroglial cell proliferation
A0061744biological_processmotor behavior
A0070062cellular_componentextracellular exosome
A0071356biological_processcellular response to tumor necrosis factor
A0071425biological_processhematopoietic stem cell proliferation
A0071548biological_processresponse to dexamethasone
A0072676biological_processlymphocyte migration
A0097066biological_processresponse to thyroid hormone
A0098773biological_processskin epidermis development
A1901805biological_processbeta-glucoside catabolic process
A1903052biological_processpositive regulation of proteolysis involved in protein catabolic process
A1903061biological_processpositive regulation of protein lipidation
A1904457biological_processpositive regulation of neuronal action potential
A1904925biological_processobsolete positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization
A1905037biological_processautophagosome organization
A1905165biological_processregulation of lysosomal protein catabolic process
B0004336molecular_functiongalactosylceramidase activity
B0004348molecular_functionglucosylceramidase activity
B0005102molecular_functionsignaling receptor binding
B0005124molecular_functionscavenger receptor binding
B0005515molecular_functionprotein binding
B0005615cellular_componentextracellular space
B0005764cellular_componentlysosome
B0005765cellular_componentlysosomal membrane
B0005783cellular_componentendoplasmic reticulum
B0005794cellular_componentGolgi apparatus
B0005802cellular_componenttrans-Golgi network
B0006665biological_processsphingolipid metabolic process
B0006678biological_processglucosylceramide metabolic process
B0006680biological_processglucosylceramide catabolic process
B0006914biological_processautophagy
B0007005biological_processmitochondrion organization
B0007040biological_processlysosome organization
B0007417biological_processcentral nervous system development
B0008203biological_processcholesterol metabolic process
B0008340biological_processdetermination of adult lifespan
B0008422molecular_functionbeta-glucosidase activity
B0009267biological_processcellular response to starvation
B0009268biological_processresponse to pH
B0014004biological_processmicroglia differentiation
B0016020cellular_componentmembrane
B0016241biological_processregulation of macroautophagy
B0016757molecular_functionglycosyltransferase activity
B0016787molecular_functionhydrolase activity
B0016798molecular_functionhydrolase activity, acting on glycosyl bonds
B0019882biological_processantigen processing and presentation
B0019915biological_processlipid storage
B0021694biological_processcerebellar Purkinje cell layer formation
B0021859biological_processpyramidal neuron differentiation
B0022904biological_processrespiratory electron transport chain
B0023021biological_processtermination of signal transduction
B0030259biological_processlipid glycosylation
B0031175biological_processneuron projection development
B0031333biological_processnegative regulation of protein-containing complex assembly
B0032006biological_processregulation of TOR signaling
B0032436biological_processpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
B0032715biological_processnegative regulation of interleukin-6 production
B0033077biological_processT cell differentiation in thymus
B0033574biological_processresponse to testosterone
B0035307biological_processobsolete positive regulation of protein dephosphorylation
B0042391biological_processregulation of membrane potential
B0043161biological_processproteasome-mediated ubiquitin-dependent protein catabolic process
B0043202cellular_componentlysosomal lumen
B0043243biological_processpositive regulation of protein-containing complex disassembly
B0043407biological_processnegative regulation of MAP kinase activity
B0043524biological_processnegative regulation of neuron apoptotic process
B0043627biological_processresponse to estrogen
B0046512biological_processsphingosine biosynthetic process
B0046513biological_processceramide biosynthetic process
B0046527molecular_functionglucosyltransferase activity
B0048469biological_processcell maturation
B0048854biological_processbrain morphogenesis
B0048872biological_processhomeostasis of number of cells
B0050295molecular_functionsteryl-beta-glucosidase activity
B0050728biological_processnegative regulation of inflammatory response
B0050877biological_processnervous system process
B0050905biological_processneuromuscular process
B0051246biological_processregulation of protein metabolic process
B0051248biological_processnegative regulation of protein metabolic process
B0051402biological_processneuron apoptotic process
B0061436biological_processestablishment of skin barrier
B0061518biological_processmicroglial cell proliferation
B0061744biological_processmotor behavior
B0070062cellular_componentextracellular exosome
B0071356biological_processcellular response to tumor necrosis factor
B0071425biological_processhematopoietic stem cell proliferation
B0071548biological_processresponse to dexamethasone
B0072676biological_processlymphocyte migration
B0097066biological_processresponse to thyroid hormone
B0098773biological_processskin epidermis development
B1901805biological_processbeta-glucoside catabolic process
B1903052biological_processpositive regulation of proteolysis involved in protein catabolic process
B1903061biological_processpositive regulation of protein lipidation
B1904457biological_processpositive regulation of neuronal action potential
B1904925biological_processobsolete positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization
B1905037biological_processautophagosome organization
B1905165biological_processregulation of lysosomal protein catabolic process
C0004336molecular_functiongalactosylceramidase activity
C0004348molecular_functionglucosylceramidase activity
C0005102molecular_functionsignaling receptor binding
C0005124molecular_functionscavenger receptor binding
C0005515molecular_functionprotein binding
C0005615cellular_componentextracellular space
C0005764cellular_componentlysosome
C0005765cellular_componentlysosomal membrane
C0005783cellular_componentendoplasmic reticulum
C0005794cellular_componentGolgi apparatus
C0005802cellular_componenttrans-Golgi network
C0006665biological_processsphingolipid metabolic process
C0006678biological_processglucosylceramide metabolic process
C0006680biological_processglucosylceramide catabolic process
C0006914biological_processautophagy
C0007005biological_processmitochondrion organization
C0007040biological_processlysosome organization
C0007417biological_processcentral nervous system development
C0008203biological_processcholesterol metabolic process
C0008340biological_processdetermination of adult lifespan
C0008422molecular_functionbeta-glucosidase activity
C0009267biological_processcellular response to starvation
C0009268biological_processresponse to pH
C0014004biological_processmicroglia differentiation
C0016020cellular_componentmembrane
C0016241biological_processregulation of macroautophagy
C0016757molecular_functionglycosyltransferase activity
C0016787molecular_functionhydrolase activity
C0016798molecular_functionhydrolase activity, acting on glycosyl bonds
C0019882biological_processantigen processing and presentation
C0019915biological_processlipid storage
C0021694biological_processcerebellar Purkinje cell layer formation
C0021859biological_processpyramidal neuron differentiation
C0022904biological_processrespiratory electron transport chain
C0023021biological_processtermination of signal transduction
C0030259biological_processlipid glycosylation
C0031175biological_processneuron projection development
C0031333biological_processnegative regulation of protein-containing complex assembly
C0032006biological_processregulation of TOR signaling
C0032436biological_processpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
C0032715biological_processnegative regulation of interleukin-6 production
C0033077biological_processT cell differentiation in thymus
C0033574biological_processresponse to testosterone
C0035307biological_processobsolete positive regulation of protein dephosphorylation
C0042391biological_processregulation of membrane potential
C0043161biological_processproteasome-mediated ubiquitin-dependent protein catabolic process
C0043202cellular_componentlysosomal lumen
C0043243biological_processpositive regulation of protein-containing complex disassembly
C0043407biological_processnegative regulation of MAP kinase activity
C0043524biological_processnegative regulation of neuron apoptotic process
C0043627biological_processresponse to estrogen
C0046512biological_processsphingosine biosynthetic process
C0046513biological_processceramide biosynthetic process
C0046527molecular_functionglucosyltransferase activity
C0048469biological_processcell maturation
C0048854biological_processbrain morphogenesis
C0048872biological_processhomeostasis of number of cells
C0050295molecular_functionsteryl-beta-glucosidase activity
C0050728biological_processnegative regulation of inflammatory response
C0050877biological_processnervous system process
C0050905biological_processneuromuscular process
C0051246biological_processregulation of protein metabolic process
C0051248biological_processnegative regulation of protein metabolic process
C0051402biological_processneuron apoptotic process
C0061436biological_processestablishment of skin barrier
C0061518biological_processmicroglial cell proliferation
C0061744biological_processmotor behavior
C0070062cellular_componentextracellular exosome
C0071356biological_processcellular response to tumor necrosis factor
C0071425biological_processhematopoietic stem cell proliferation
C0071548biological_processresponse to dexamethasone
C0072676biological_processlymphocyte migration
C0097066biological_processresponse to thyroid hormone
C0098773biological_processskin epidermis development
C1901805biological_processbeta-glucoside catabolic process
C1903052biological_processpositive regulation of proteolysis involved in protein catabolic process
C1903061biological_processpositive regulation of protein lipidation
C1904457biological_processpositive regulation of neuronal action potential
C1904925biological_processobsolete positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization
C1905037biological_processautophagosome organization
C1905165biological_processregulation of lysosomal protein catabolic process
D0004336molecular_functiongalactosylceramidase activity
D0004348molecular_functionglucosylceramidase activity
D0005102molecular_functionsignaling receptor binding
D0005124molecular_functionscavenger receptor binding
D0005515molecular_functionprotein binding
D0005615cellular_componentextracellular space
D0005764cellular_componentlysosome
D0005765cellular_componentlysosomal membrane
D0005783cellular_componentendoplasmic reticulum
D0005794cellular_componentGolgi apparatus
D0005802cellular_componenttrans-Golgi network
D0006665biological_processsphingolipid metabolic process
D0006678biological_processglucosylceramide metabolic process
D0006680biological_processglucosylceramide catabolic process
D0006914biological_processautophagy
D0007005biological_processmitochondrion organization
D0007040biological_processlysosome organization
D0007417biological_processcentral nervous system development
D0008203biological_processcholesterol metabolic process
D0008340biological_processdetermination of adult lifespan
D0008422molecular_functionbeta-glucosidase activity
D0009267biological_processcellular response to starvation
D0009268biological_processresponse to pH
D0014004biological_processmicroglia differentiation
D0016020cellular_componentmembrane
D0016241biological_processregulation of macroautophagy
D0016757molecular_functionglycosyltransferase activity
D0016787molecular_functionhydrolase activity
D0016798molecular_functionhydrolase activity, acting on glycosyl bonds
D0019882biological_processantigen processing and presentation
D0019915biological_processlipid storage
D0021694biological_processcerebellar Purkinje cell layer formation
D0021859biological_processpyramidal neuron differentiation
D0022904biological_processrespiratory electron transport chain
D0023021biological_processtermination of signal transduction
D0030259biological_processlipid glycosylation
D0031175biological_processneuron projection development
D0031333biological_processnegative regulation of protein-containing complex assembly
D0032006biological_processregulation of TOR signaling
D0032436biological_processpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
D0032715biological_processnegative regulation of interleukin-6 production
D0033077biological_processT cell differentiation in thymus
D0033574biological_processresponse to testosterone
D0035307biological_processobsolete positive regulation of protein dephosphorylation
D0042391biological_processregulation of membrane potential
D0043161biological_processproteasome-mediated ubiquitin-dependent protein catabolic process
D0043202cellular_componentlysosomal lumen
D0043243biological_processpositive regulation of protein-containing complex disassembly
D0043407biological_processnegative regulation of MAP kinase activity
D0043524biological_processnegative regulation of neuron apoptotic process
D0043627biological_processresponse to estrogen
D0046512biological_processsphingosine biosynthetic process
D0046513biological_processceramide biosynthetic process
D0046527molecular_functionglucosyltransferase activity
D0048469biological_processcell maturation
D0048854biological_processbrain morphogenesis
D0048872biological_processhomeostasis of number of cells
D0050295molecular_functionsteryl-beta-glucosidase activity
D0050728biological_processnegative regulation of inflammatory response
D0050877biological_processnervous system process
D0050905biological_processneuromuscular process
D0051246biological_processregulation of protein metabolic process
D0051248biological_processnegative regulation of protein metabolic process
D0051402biological_processneuron apoptotic process
D0061436biological_processestablishment of skin barrier
D0061518biological_processmicroglial cell proliferation
D0061744biological_processmotor behavior
D0070062cellular_componentextracellular exosome
D0071356biological_processcellular response to tumor necrosis factor
D0071425biological_processhematopoietic stem cell proliferation
D0071548biological_processresponse to dexamethasone
D0072676biological_processlymphocyte migration
D0097066biological_processresponse to thyroid hormone
D0098773biological_processskin epidermis development
D1901805biological_processbeta-glucoside catabolic process
D1903052biological_processpositive regulation of proteolysis involved in protein catabolic process
D1903061biological_processpositive regulation of protein lipidation
D1904457biological_processpositive regulation of neuronal action potential
D1904925biological_processobsolete positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization
D1905037biological_processautophagosome organization
D1905165biological_processregulation of lysosomal protein catabolic process
Functional Information from SwissProt/UniProt
site_idSWS_FT_FI1
Number of Residues4
DetailsACT_SITE: Proton donor => ECO:0000269|PubMed:15817452
ChainResidueDetails
AGLU235
BGLU235
CGLU235
DGLU235

site_idSWS_FT_FI2
Number of Residues4
DetailsACT_SITE: Nucleophile => ECO:0000269|PubMed:15817452
ChainResidueDetails
AGLU340
BGLU340
CGLU340
DGLU340

site_idSWS_FT_FI3
Number of Residues4
DetailsCARBOHYD: N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:12792654, ECO:0000269|PubMed:17139081
ChainResidueDetails
AASN19
BASN19
CASN19
DASN19

site_idSWS_FT_FI4
Number of Residues4
DetailsCARBOHYD: N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:17139081, ECO:0000269|PubMed:19159218
ChainResidueDetails
AASN59
BASN59
CASN59
DASN59

site_idSWS_FT_FI5
Number of Residues4
DetailsCARBOHYD: N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:17139081
ChainResidueDetails
AASN146
BASN146
CASN146
DASN146

site_idSWS_FT_FI6
Number of Residues4
DetailsCARBOHYD: N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:19159218
ChainResidueDetails
AASN270
BASN270
CASN270
DASN270

site_idSWS_FT_FI7
Number of Residues4
DetailsCARBOHYD: N-linked (GlcNAc...) asparagine => ECO:0000255
ChainResidueDetails
AASN462
BASN462
CASN462
DASN462

Catalytic Information from CSA
site_idCSA1
Number of Residues3
DetailsAnnotated By Reference To The Literature 2f61
ChainResidueDetails
ACYS342
AGLU340
AGLU235

site_idCSA2
Number of Residues3
DetailsAnnotated By Reference To The Literature 2f61
ChainResidueDetails
BCYS342
BGLU340
BGLU235

site_idCSA3
Number of Residues3
DetailsAnnotated By Reference To The Literature 2f61
ChainResidueDetails
CCYS342
CGLU340
CGLU235

site_idCSA4
Number of Residues3
DetailsAnnotated By Reference To The Literature 2f61
ChainResidueDetails
DCYS342
DGLU340
DGLU235

site_idMCSA1
Number of Residues4
DetailsM-CSA 764
ChainResidueDetails
AGLU235activator, increase nucleophilicity, promote heterolysis, proton acceptor, proton donor
AGLU340covalently attached, nucleofuge, nucleophile
ACYS342electrostatic stabiliser
AASN370

site_idMCSA2
Number of Residues4
DetailsM-CSA 764
ChainResidueDetails
BGLU235activator, increase nucleophilicity, promote heterolysis, proton acceptor, proton donor
BGLU340covalently attached, nucleofuge, nucleophile
BCYS342electrostatic stabiliser
BASN370

site_idMCSA3
Number of Residues4
DetailsM-CSA 764
ChainResidueDetails
CGLU235activator, increase nucleophilicity, promote heterolysis, proton acceptor, proton donor
CGLU340covalently attached, nucleofuge, nucleophile
CCYS342electrostatic stabiliser
CASN370

site_idMCSA4
Number of Residues4
DetailsM-CSA 764
ChainResidueDetails
DGLU235activator, increase nucleophilicity, promote heterolysis, proton acceptor, proton donor
DGLU340covalently attached, nucleofuge, nucleophile
DCYS342electrostatic stabiliser
DASN370

226707

PDB entries from 2024-10-30

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