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Protein

Glucosylceramidase

Gene

GBA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine.

Enzyme regulationi

Requires saposin-C and anionic phospholipids for activity.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei274Proton donor1 Publication1
Active sitei379Nucleophile1 Publication1

GO - Molecular functioni

  • glucosylceramidase activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL

GO - Biological processi

  • carbohydrate metabolic process Source: InterPro
  • cellular response to starvation Source: Ensembl
  • cellular response to tumor necrosis factor Source: BHF-UCL
  • ceramide biosynthetic process Source: BHF-UCL
  • glucosylceramide catabolic process Source: BHF-UCL
  • glycosphingolipid metabolic process Source: Reactome
  • negative regulation of inflammatory response Source: BHF-UCL
  • negative regulation of interleukin-6 production Source: BHF-UCL
  • negative regulation of MAP kinase activity Source: BHF-UCL
  • negative regulation of neuron death Source: ParkinsonsUK-UCL
  • negative regulation of protein homooligomerization Source: ParkinsonsUK-UCL
  • positive regulation of macroautophagy Source: Ensembl
  • positive regulation of neuronal action potential Source: ParkinsonsUK-UCL
  • positive regulation of protein complex disassembly Source: ParkinsonsUK-UCL
  • positive regulation of protein dephosphorylation Source: BHF-UCL
  • positive regulation of protein lipidation Source: ParkinsonsUK-UCL
  • positive regulation of protein metabolic process Source: ParkinsonsUK-UCL
  • positive regulation of proteolysis involved in cellular protein catabolic process Source: ParkinsonsUK-UCL
  • regulation of cellular protein metabolic process Source: ParkinsonsUK-UCL
  • regulation of lysosomal protein catabolic process Source: ParkinsonsUK-UCL
  • regulation of macroautophagy Source: ParkinsonsUK-UCL
  • regulation of proteasomal ubiquitin-dependent protein catabolic process Source: Ensembl
  • regulation of water loss via skin Source: Ensembl
  • response to estrogen Source: Ensembl
  • response to glucocorticoid Source: Ensembl
  • response to pH Source: Ensembl
  • response to testosterone Source: Ensembl
  • response to thyroid hormone Source: Ensembl
  • skin morphogenesis Source: Ensembl
  • sphingosine biosynthetic process Source: BHF-UCL
  • termination of signal transduction Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BioCyciZFISH:HS11195-MONOMER.
BRENDAi3.2.1.45. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-390471. Association of TriC/CCT with target proteins during biosynthesis.

Protein family/group databases

CAZyiGH30. Glycoside Hydrolase Family 30.

Chemistry databases

SwissLipidsiSLP:000001387.

Names & Taxonomyi

Protein namesi
Recommended name:
Glucosylceramidase (EC:3.2.1.45)
Alternative name(s):
Acid beta-glucosidase
Alglucerase
Beta-glucocerebrosidase
Short name:
Beta-GC
D-glucosyl-N-acylsphingosine glucohydrolase
Imiglucerase
Gene namesi
Name:GBA
Synonyms:GC, GLUC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4177. GBA.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular space Source: Ensembl
  • lysosomal lumen Source: BHF-UCL
  • lysosomal membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Gaucher disease (GD)32 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.
See also OMIM:230800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00325554V → L in GD. 1 PublicationCorresponds to variant rs121908302dbSNPEnsembl.1
Natural variantiVAR_03239455C → S in GD; neuronopathic and perinatal lethal forms; loss of activity. 3 PublicationsCorresponds to variant rs773007510dbSNPEnsembl.1
Natural variantiVAR_03239563D → N in GD1; very low activity. 1 Publication1
Natural variantiVAR_00325676F → V in GD. 1 Publication1
Natural variantiVAR_00903380E → K in GD2. 1 PublicationCorresponds to variant rs1141808dbSNPEnsembl.1
Natural variantiVAR_00325782T → I in GD. Corresponds to variant rs1141811dbSNPEnsembl.1
Natural variantiVAR_00325885G → E in GD. 2 PublicationsCorresponds to variant rs77829017dbSNPEnsembl.1
Natural variantiVAR_03219787R → Q in GD; 20% of normal activity. 1 PublicationCorresponds to variant rs78769774dbSNPEnsembl.1
Natural variantiVAR_00325987R → W in GD; mild. 3 PublicationsCorresponds to variant rs1141814dbSNPEnsembl.1
Natural variantiVAR_003260118K → N in GD; mild; 8% of normal activity; increases susceptibility to proteolytic degradation. 2 PublicationsCorresponds to variant rs121908312dbSNPEnsembl.1
Natural variantiVAR_032397129A → T in GD. 1 Publication1
Natural variantiVAR_009034146S → L in GD; type 2. 1 PublicationCorresponds to variant rs758447515dbSNPEnsembl.1
Natural variantiVAR_003261152G → E in GD. 1 Publication1
Natural variantiVAR_032398156N → D in GD. 1 Publication1
Natural variantiVAR_032399158I → S in GD1; very low activity. 1 PublicationCorresponds to variant rs77834747dbSNPEnsembl.1
Natural variantiVAR_003262158I → T in GD. 1
Natural variantiVAR_003263159R → Q in GD; type 2; 13% of normal activity. 2 PublicationsCorresponds to variant rs79653797dbSNPEnsembl.1
Natural variantiVAR_003264159R → W in GD; severe. 3 PublicationsCorresponds to variant rs397515515dbSNPEnsembl.1
Natural variantiVAR_032198161P → L in GD; 16% of normal activity. 1 PublicationCorresponds to variant rs79637617dbSNPEnsembl.1
Natural variantiVAR_003265161P → S in GD; mild. Corresponds to variant rs121908299dbSNPEnsembl.1
Natural variantiVAR_032199162M → V in GD; loss of activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant rs377325220dbSNPEnsembl.1
Natural variantiVAR_032200166D → V in GD; 9% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant rs79796061dbSNPEnsembl.1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant rs398123530dbSNPEnsembl.1
Natural variantiVAR_009036170R → L in GD. 1 PublicationCorresponds to variant rs80356763dbSNPEnsembl.1
Natural variantiVAR_032400173T → I in GD. 1 PublicationCorresponds to variant rs78657146dbSNPEnsembl.1
Natural variantiVAR_003266173T → P in GD. 2 Publications1
Natural variantiVAR_032401175A → E in GD. 1 PublicationCorresponds to variant rs79660787dbSNPEnsembl.1
Natural variantiVAR_003267179D → H in GD. Corresponds to variant rs147138516dbSNPEnsembl.1
Natural variantiVAR_003268196K → Q in GD; severe. Corresponds to variant rs121908297dbSNPEnsembl.1
Natural variantiVAR_009037198P → L in GD. 1 PublicationCorresponds to variant rs80222298dbSNPEnsembl.1
Natural variantiVAR_032402198P → T in GD. 1 Publication1
Natural variantiVAR_032201200I → N in GD; 5% of normal activity. 1 PublicationCorresponds to variant rs77933015dbSNPEnsembl.1
Natural variantiVAR_010059200I → S in GD. Corresponds to variant rs77933015dbSNPEnsembl.1
Natural variantiVAR_032403201H → P in GD. 1 PublicationCorresponds to variant rs76500263dbSNPEnsembl.1
Natural variantiVAR_032404209R → C in GD. 1 PublicationCorresponds to variant rs398123532dbSNPEnsembl.1
Natural variantiVAR_003269209R → P in GD. 1 Publication1
Natural variantiVAR_032202213L → F in GD; 12% of normal activity. 1 PublicationCorresponds to variant rs374591570dbSNPEnsembl.1
Natural variantiVAR_003270215A → D in GD. 1 Publication1
Natural variantiVAR_003271217P → S in GD; type 2. 1 Publication1
Natural variantiVAR_032405221P → L in GD1; very low activity. 1 PublicationCorresponds to variant rs80205046dbSNPEnsembl.1
Natural variantiVAR_003272221P → T in GD. 1 Publication1
Natural variantiVAR_003273223W → R in GD; gene conversion. 1 PublicationCorresponds to variant rs61748906dbSNPEnsembl.1
Natural variantiVAR_032203224L → F in GD; 4% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication1
Natural variantiVAR_003275227N → K in GD; gene conversion. Corresponds to variant rs381418dbSNPEnsembl.1
Natural variantiVAR_003274227N → S in GD; type 2. 3 PublicationsCorresponds to variant rs364897dbSNPEnsembl.1
Natural variantiVAR_010060228G → V in GD. 1 PublicationCorresponds to variant rs78911246dbSNPEnsembl.1
Natural variantiVAR_009038229A → E in GD; type 2. Corresponds to variant rs75636769dbSNPEnsembl.1
Natural variantiVAR_032406229A → T in GD. 1 Publication1
Natural variantiVAR_032407230V → E in GD1; very low activity. 1 PublicationCorresponds to variant rs381427dbSNPEnsembl.1
Natural variantiVAR_003276230V → G in GD1; gene conversion. 2 PublicationsCorresponds to variant rs381427dbSNPEnsembl.1
Natural variantiVAR_032204232G → E in GD; also found in a patient with Parkinson disease; 7% of normal activity. 2 Publications1
Natural variantiVAR_003277234G → E in GD; severe. 1 PublicationCorresponds to variant rs74462743dbSNPEnsembl.1
Natural variantiVAR_009039234G → W in GD. 1 Publication1
Natural variantiVAR_003278235S → P in GD; type 2; gene conversion. 2 PublicationsCorresponds to variant rs1064644dbSNPEnsembl.1
Natural variantiVAR_032205237K → E in GD; severe; loss of activity; increases susceptibility to proteolytic degradation. 2 PublicationsCorresponds to variant rs773409311dbSNPEnsembl.1
Natural variantiVAR_010061241G → E in GD. Corresponds to variant rs77451368dbSNPEnsembl.1
Natural variantiVAR_003279241G → R in GD; type 1 and type 2; gene conversion. 7 PublicationsCorresponds to variant rs398123534dbSNPEnsembl.1
Natural variantiVAR_010062244Y → C in GD. 1 PublicationCorresponds to variant rs76026102dbSNPEnsembl.1
Natural variantiVAR_003280251Y → H in GD. Corresponds to variant rs121908300dbSNPEnsembl.1
Natural variantiVAR_003281252F → I in GD; type 2; gene conversion. 6 PublicationsCorresponds to variant rs381737dbSNPEnsembl.1
Natural variantiVAR_003282255F → Y in GD; mild. 1 PublicationCorresponds to variant rs74500255dbSNPEnsembl.1
Natural variantiVAR_032408270T → R in GD. 1 PublicationCorresponds to variant rs76725886dbSNPEnsembl.1
Natural variantiVAR_003283276S → P in GD. 1
Natural variantiVAR_032409290F → L in GD; perinatal lethal form. 1 PublicationCorresponds to variant rs121908313dbSNPEnsembl.1
Natural variantiVAR_009040294H → Q in GD1; also found in Gaucher disease type 2. 1 PublicationCorresponds to variant rs367968666dbSNPEnsembl.1
Natural variantiVAR_003284296R → Q in GD; type 2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant rs78973108dbSNPEnsembl.1
Natural variantiVAR_009041298F → L in GD; type 2; 4% of normal activity. 2 Publications1
Natural variantiVAR_032206303L → I in GD; 5% of normal activity. 1 Publication1
Natural variantiVAR_010063304G → D in GD. Corresponds to variant rs80116658dbSNPEnsembl.1
Natural variantiVAR_003285305P → R in GD; mild. Corresponds to variant rs79215220dbSNPEnsembl.1
Natural variantiVAR_010064310S → N in GD; less than 5% of normal activity. 1 PublicationCorresponds to variant rs74731340dbSNPEnsembl.1
Natural variantiVAR_003286324R → C in GD; type 1. 3 PublicationsCorresponds to variant rs765633380dbSNPEnsembl.1
Natural variantiVAR_009042324R → H in GD; type 2. Corresponds to variant rs79696831dbSNPEnsembl.1
Natural variantiVAR_003287328P → L in GD; mild. Corresponds to variant rs121908298dbSNPEnsembl.1
Natural variantiVAR_003288342K → I in GD. Corresponds to variant rs77714449dbSNPEnsembl.1
Natural variantiVAR_009043343Y → C in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant rs77321207dbSNPEnsembl.1
Natural variantiVAR_003289348A → V in GD. Corresponds to variant rs78396650dbSNPEnsembl.1
Natural variantiVAR_009044350H → R in perinatal lethal GD. 1 PublicationCorresponds to variant rs78198234dbSNPEnsembl.1
Natural variantiVAR_003290351W → C in GD; mild. Corresponds to variant rs121908304dbSNPEnsembl.1
Natural variantiVAR_003291352Y → H in GD. 1 Publication1
Natural variantiVAR_003292354D → H in GD. Corresponds to variant rs398123526dbSNPEnsembl.1
Natural variantiVAR_003293357A → D in GD. Corresponds to variant rs78188205dbSNPEnsembl.1
Natural variantiVAR_003294362T → I in GD; 6% of normal activity. 1 PublicationCorresponds to variant rs76539814dbSNPEnsembl.1
Natural variantiVAR_003295363L → P in GD. 1
Natural variantiVAR_003296364G → R in GD; type 2. 1 PublicationCorresponds to variant rs121908305dbSNPEnsembl.1
Natural variantiVAR_003297365E → K in GD; mild; 42% of normal activity. 2 PublicationsCorresponds to variant rs2230288dbSNPEnsembl.1
Natural variantiVAR_009045380A → T in GD. 2 PublicationsCorresponds to variant rs781306264dbSNPEnsembl.1
Natural variantiVAR_003298381C → G in GD; type 2; loss of activity. 1 PublicationCorresponds to variant rs121908306dbSNPEnsembl.1
Natural variantiVAR_032207388E → K in GD; 12% of normal activity. 1 Publication1
Natural variantiVAR_010065391V → L in GD. 1 PublicationCorresponds to variant rs398123527dbSNPEnsembl.1
Natural variantiVAR_010066392R → G in GD. 1 PublicationCorresponds to variant rs121908308dbSNPEnsembl.1
Natural variantiVAR_032208392R → W in GD; 5% of normal activity. 1 Publication1
Natural variantiVAR_003299398R → Q in GD; mild. 1 PublicationCorresponds to variant rs74979486dbSNPEnsembl.1
Natural variantiVAR_032412400M → I in GD. 1 PublicationCorresponds to variant rs149487315dbSNPEnsembl.1
Natural variantiVAR_032209402Y → C in GD; 8% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant rs76228122dbSNPEnsembl.1
Natural variantiVAR_003300403S → T in GD; mild. Corresponds to variant rs121908307dbSNPEnsembl.1
Natural variantiVAR_010067405S → G in GD. 1 Publication1
Natural variantiVAR_009046405S → N in GD. 1 Publication1
Natural variantiVAR_003301408T → M in GD. 2 PublicationsCorresponds to variant rs2230289dbSNPEnsembl.1
Natural variantiVAR_003302409N → S in GD1; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C; mild. 15 PublicationsCorresponds to variant rs76763715dbSNPEnsembl.1
Natural variantiVAR_032210410L → V in GD; 15% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant rs121908314dbSNPEnsembl.1
Natural variantiVAR_010068414V → L in GD; mild. 1 PublicationCorresponds to variant rs398123528dbSNPEnsembl.1
Natural variantiVAR_003303416G → S in GD; mild. 2 PublicationsCorresponds to variant rs121908311dbSNPEnsembl.1
Natural variantiVAR_003304417W → G in GD. 1 Publication1
Natural variantiVAR_003305419D → A in GD; type 2; also found in a patient with Parkinson disease. 1 PublicationCorresponds to variant rs77284004dbSNPEnsembl.1
Natural variantiVAR_032211419D → H in GD; 4% of normal activity. 1 Publication1
Natural variantiVAR_003306419D → N in GD. 1 Publication1
Natural variantiVAR_032212421N → K in GD; 22% of normal activity. 1 Publication1
Natural variantiVAR_010069426P → L in GD. 1 Publication1
Natural variantiVAR_003307428G → E in GD; type 2. 1 Publication1
Natural variantiVAR_032213429G → R in GD; 17% of normal activity. 1 Publication1
Natural variantiVAR_003308430P → L in GD. 1 PublicationCorresponds to variant rs76910485dbSNPEnsembl.1
Natural variantiVAR_003309431N → I in GD; type 2. 1 PublicationCorresponds to variant rs77738682dbSNPEnsembl.1
Natural variantiVAR_009047432W → R in GD. 1 Publication1
Natural variantiVAR_003310433V → L in GD; severe; 12% of normal activity. 3 PublicationsCorresponds to variant rs80356769dbSNPEnsembl.1
Natural variantiVAR_003311435N → T in GD1; mild. 1 PublicationCorresponds to variant rs75385858dbSNPEnsembl.1
Natural variantiVAR_032214436F → S in GD; 6% of normal activity; alters protein stability and increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant rs75243000dbSNPEnsembl.1
Natural variantiVAR_009048437V → F in perinatal lethal GD. 1 PublicationCorresponds to variant rs121908310dbSNPEnsembl.1
Natural variantiVAR_010070437V → L in GD3. 1 Publication1
Natural variantiVAR_003312438D → N in GD; type 1 and type 2; 14% of normal activity; increases susceptibility to proteolytic degradation. 3 Publications1
Natural variantiVAR_032413438D → Y in GD. 1 Publication1
Natural variantiVAR_010071440P → L in GD1. 2 PublicationsCorresponds to variant rs74598136dbSNPEnsembl.1
Natural variantiVAR_032414441I → F in GD; type 3. 1 Publication1
Natural variantiVAR_010072441I → T in GD; mild. 1 PublicationCorresponds to variant rs75564605dbSNPEnsembl.1
Natural variantiVAR_003313448D → H in GD; type 1 and type neuronopathic; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low activity; alters protein stability. 10 PublicationsCorresponds to variant rs1064651dbSNPEnsembl.1
Natural variantiVAR_003314448D → V in GD; severe; very low activity; alters protein stability. Corresponds to variant rs77369218dbSNPEnsembl.1
Natural variantiVAR_010073450F → I in GD. 1
Natural variantiVAR_003315451Y → H in GD. 1 Publication1
Natural variantiVAR_010074452K → Q in GD. 1 Publication1
Natural variantiVAR_003316454P → R in GD; type 2. Corresponds to variant rs121908295dbSNPEnsembl.1
Natural variantiVAR_032215455M → V in GD; loss of activity; increases susceptibility to proteolytic degradation. 1 Publication1
Natural variantiVAR_003317456F → V in GD. 1
Natural variantiVAR_003318457Y → C in GD. 2 PublicationsCorresponds to variant rs74752878dbSNPEnsembl.1
Natural variantiVAR_032415460G → D in GD1; associated with R-490; loss of activity. 1 Publication1
Natural variantiVAR_003319464K → E in GD; severe. 1
Natural variantiVAR_003321483L → P in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; very low activity; alters protein stability. 11 PublicationsCorresponds to variant rs421016dbSNPEnsembl.1
Natural variantiVAR_003320483L → R in GD; severe. Corresponds to variant rs421016dbSNPEnsembl.1
Natural variantiVAR_003322485A → P in GD. 1
Natural variantiVAR_032416490H → R in GD; type 1; associated with D-460. 2 PublicationsCorresponds to variant rs76071730dbSNPEnsembl.1
Natural variantiVAR_003323495A → P in GD; gene conversion. 1 PublicationCorresponds to variant rs368060dbSNPEnsembl.1
Natural variantiVAR_032216500L → P in GD; 10% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication1
Natural variantiVAR_009049501N → K in GD; type 2. 1 Publication1
Natural variantiVAR_003324502R → C in GD; 37% of normal activity; also found in patients with Parkinson disease. 4 PublicationsCorresponds to variant rs80356771dbSNPEnsembl.1
Natural variantiVAR_032217502R → P in GD; loss of activity; increases susceptibility to proteolytic degradation. 1 Publication1
Natural variantiVAR_009050513D → Y in GD2. 1 Publication1
Natural variantiVAR_003326517G → S in GD. Corresponds to variant rs121908301dbSNPEnsembl.1
Natural variantiVAR_010075530T → I in GD3. 1 PublicationCorresponds to variant rs78016673dbSNPEnsembl.1
Natural variantiVAR_003327535R → C in GD; mild. 1 PublicationCorresponds to variant rs747506979dbSNPEnsembl.1
Natural variantiVAR_003328535R → H in GD; mild. 1 PublicationCorresponds to variant rs75822236dbSNPEnsembl.1
Gaucher disease 1 (GD1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
See also OMIM:230800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03239563D → N in GD1; very low activity. 1 Publication1
Natural variantiVAR_032399158I → S in GD1; very low activity. 1 PublicationCorresponds to variant rs77834747dbSNPEnsembl.1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant rs398123530dbSNPEnsembl.1
Natural variantiVAR_032405221P → L in GD1; very low activity. 1 PublicationCorresponds to variant rs80205046dbSNPEnsembl.1
Natural variantiVAR_032407230V → E in GD1; very low activity. 1 PublicationCorresponds to variant rs381427dbSNPEnsembl.1
Natural variantiVAR_003276230V → G in GD1; gene conversion. 2 PublicationsCorresponds to variant rs381427dbSNPEnsembl.1
Natural variantiVAR_009040294H → Q in GD1; also found in Gaucher disease type 2. 1 PublicationCorresponds to variant rs367968666dbSNPEnsembl.1
Natural variantiVAR_003302409N → S in GD1; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C; mild. 15 PublicationsCorresponds to variant rs76763715dbSNPEnsembl.1
Natural variantiVAR_003311435N → T in GD1; mild. 1 PublicationCorresponds to variant rs75385858dbSNPEnsembl.1
Natural variantiVAR_010071440P → L in GD1. 2 PublicationsCorresponds to variant rs74598136dbSNPEnsembl.1
Natural variantiVAR_032415460G → D in GD1; associated with R-490; loss of activity. 1 Publication1
Natural variantiVAR_003321483L → P in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; very low activity; alters protein stability. 11 PublicationsCorresponds to variant rs421016dbSNPEnsembl.1
Gaucher disease 2 (GD2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.
See also OMIM:230900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00903380E → K in GD2. 1 PublicationCorresponds to variant rs1141808dbSNPEnsembl.1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant rs398123530dbSNPEnsembl.1
Natural variantiVAR_003321483L → P in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; very low activity; alters protein stability. 11 PublicationsCorresponds to variant rs421016dbSNPEnsembl.1
Natural variantiVAR_009050513D → Y in GD2. 1 Publication1
Gaucher disease 3 (GD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2.
See also OMIM:231000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010070437V → L in GD3. 1 Publication1
Natural variantiVAR_003313448D → H in GD; type 1 and type neuronopathic; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low activity; alters protein stability. 10 PublicationsCorresponds to variant rs1064651dbSNPEnsembl.1
Natural variantiVAR_010075530T → I in GD3. 1 PublicationCorresponds to variant rs78016673dbSNPEnsembl.1
Gaucher disease 3C (GD3C)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications.
See also OMIM:231005
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003313448D → H in GD; type 1 and type neuronopathic; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low activity; alters protein stability. 10 PublicationsCorresponds to variant rs1064651dbSNPEnsembl.1
Gaucher disease perinatal lethal (GDPL)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDistinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
See also OMIM:608013

Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.

Parkinson disease (PARK)3 Publications
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.
See also OMIM:168600

Pharmaceutical usei

Available under the names Ceredase and Cerezyme (Genzyme). Used to treat Gaucher's disease.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi43C → S: Loss of activity. 1 Publication1
Mutagenesisi57C → S: Loss of activity. 1 Publication1
Mutagenesisi62C → S: Loss of activity. 1 Publication1
Mutagenesisi379E → G: Decreases activity 1000-fold. 1 Publication1

Keywords - Diseasei

Disease mutation, Gaucher disease, Ichthyosis, Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNETi2629.
MalaCardsiGBA.
MIMi168600. phenotype.
230800. phenotype.
230900. phenotype.
231000. phenotype.
231005. phenotype.
608013. phenotype.
OpenTargetsiENSG00000177628.
Orphaneti1648. Dementia with Lewy body.
85212. Fetal Gaucher disease.
2072. Gaucher disease - ophthalmoplegia - cardiovascular calcification.
77259. Gaucher disease type 1.
77260. Gaucher disease type 2.
77261. Gaucher disease type 3.
319705. Parkinson disease.
2828. Young adult-onset Parkinsonism.
PharmGKBiPA28591.

Protein family/group databases

Allergomei8244. Hom s Glucocerebrosidase.

Chemistry databases

ChEMBLiCHEMBL2179.
DrugBankiDB06720. Velaglucerase alfa.

Polymorphism and mutation databases

BioMutaiGBA.
DMDMi55584151.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 39In isoform Long1 PublicationAdd BLAST39
Signal peptidei21 – 39In isoform Short1 PublicationAdd BLAST19
ChainiPRO_000001217740 – 536GlucosylceramidaseAdd BLAST497

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi43 ↔ 551 Publication
Disulfide bondi57 ↔ 621 Publication
Glycosylationi58N-linked (GlcNAc...)2 Publications1
Glycosylationi98N-linked (GlcNAc...)3 Publications1
Glycosylationi185N-linked (GlcNAc...)2 Publications1
Glycosylationi309N-linked (GlcNAc...)2 Publications1
Glycosylationi501N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP04062.
MaxQBiP04062.
PaxDbiP04062.
PeptideAtlasiP04062.
PRIDEiP04062.

PTM databases

iPTMnetiP04062.
PhosphoSitePlusiP04062.
SwissPalmiP04062.

Expressioni

Gene expression databases

BgeeiENSG00000177628.
CleanExiHS_GBA.
HS_GC.
ExpressionAtlasiP04062. baseline and differential.
GenevisibleiP04062. HS.

Organism-specific databases

HPAiCAB037171.
CAB037289.
HPA006667.

Interactioni

Subunit structurei

Interacts with saposin-C. Interacts with SCARB2.3 Publications

GO - Molecular functioni

  • receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108899. 37 interactors.
DIPiDIP-38645N.
IntActiP04062. 30 interactors.
MINTiMINT-3004354.
STRINGi9606.ENSP00000314508.

Chemistry databases

BindingDBiP04062.

Structurei

Secondary structure

1536
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi49 – 52Combined sources4
Beta strandi54 – 57Combined sources4
Beta strandi75 – 82Combined sources8
Beta strandi88 – 94Combined sources7
Beta strandi96 – 98Combined sources3
Beta strandi103 – 116Combined sources14
Beta strandi119 – 123Combined sources5
Helixi126 – 133Combined sources8
Helixi137 – 148Combined sources12
Turni150 – 153Combined sources4
Beta strandi157 – 163Combined sources7
Beta strandi166 – 170Combined sources5
Beta strandi177 – 179Combined sources3
Helixi190 – 193Combined sources4
Helixi196 – 206Combined sources11
Beta strandi212 – 218Combined sources7
Helixi222 – 224Combined sources3
Beta strandi225 – 227Combined sources3
Beta strandi229 – 233Combined sources5
Beta strandi235 – 238Combined sources4
Helixi243 – 261Combined sources19
Beta strandi267 – 271Combined sources5
Helixi275 – 279Combined sources5
Beta strandi284 – 286Combined sources3
Helixi292 – 301Combined sources10
Helixi303 – 308Combined sources6
Turni311 – 314Combined sources4
Beta strandi315 – 323Combined sources9