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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

  • autophagosome organization Source: Ensembl
  • beta-glucoside catabolic process Source: Ensembl
  • 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 mitophagy in response to mitochondrial depolarization Source: Ensembl
  • positive regulation of neuronal action potential Source: ParkinsonsUK-UCL
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: Ensembl
  • 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 water loss via skin Source: Ensembl
  • response to dexamethasone Source: Ensembl
  • response to estrogen 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

Keywordsi

Molecular functionGlycosidase, Hydrolase
Biological processLipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000177628.15.
HGNCiHGNC:4177. GBA.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Gaucher disease (GD)37 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 dbSNP:rs121908302Ensembl.1
Natural variantiVAR_03239455C → S in GD; neuronopathic and perinatal lethal forms; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs773007510Ensembl.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 Publication1
Natural variantiVAR_00325782T → I in GD. Corresponds to variant dbSNP:rs1141811Ensembl.1
Natural variantiVAR_00325885G → E in GD. 2 PublicationsCorresponds to variant dbSNP:rs77829017Ensembl.1
Natural variantiVAR_03219787R → Q in GD; 20% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs78769774Ensembl.1
Natural variantiVAR_00325987R → W in GD; mild. 3 PublicationsCorresponds to variant dbSNP:rs1141814Ensembl.1
Natural variantiVAR_003260118K → N in GD; mild; 8% of normal activity; increases susceptibility to proteolytic degradation. 2 PublicationsCorresponds to variant dbSNP:rs121908312Ensembl.1
Natural variantiVAR_032397129A → T in GD. 1 Publication1
Natural variantiVAR_009034146S → L in GD; type 2. 1 PublicationCorresponds to variant dbSNP:rs758447515Ensembl.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 dbSNP:rs77834747Ensembl.1
Natural variantiVAR_003262158I → T in GD. 1
Natural variantiVAR_003263159R → Q in GD; type 2; 13% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs79653797Ensembl.1
Natural variantiVAR_003264159R → W in GD; severe. 3 PublicationsCorresponds to variant dbSNP:rs397515515Ensembl.1
Natural variantiVAR_032198161P → L in GD; 16% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs79637617Ensembl.1
Natural variantiVAR_003265161P → S in GD; mild. Corresponds to variant dbSNP:rs121908299Ensembl.1
Natural variantiVAR_032199162M → V in GD; loss of activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs377325220Ensembl.1
Natural variantiVAR_032200166D → V in GD; 9% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs79796061Ensembl.1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant dbSNP:rs398123530Ensembl.1
Natural variantiVAR_009036170R → L in GD. 1 PublicationCorresponds to variant dbSNP:rs80356763Ensembl.1
Natural variantiVAR_032400173T → I in GD. 1 PublicationCorresponds to variant dbSNP:rs78657146Ensembl.1
Natural variantiVAR_003266173T → P in GD. 2 Publications1
Natural variantiVAR_032401175A → E in GD. 1 PublicationCorresponds to variant dbSNP:rs79660787Ensembl.1
Natural variantiVAR_003267179D → H in GD. Corresponds to variant dbSNP:rs147138516Ensembl.1
Natural variantiVAR_003268196K → Q in GD; severe. Corresponds to variant dbSNP:rs121908297Ensembl.1
Natural variantiVAR_009037198P → L in GD. 1 PublicationCorresponds to variant dbSNP:rs80222298Ensembl.1
Natural variantiVAR_032402198P → T in GD. 1 Publication1
Natural variantiVAR_032201200I → N in GD; 5% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs77933015Ensembl.1
Natural variantiVAR_010059200I → S in GD. Corresponds to variant dbSNP:rs77933015Ensembl.1
Natural variantiVAR_032403201H → P in GD. 1 PublicationCorresponds to variant dbSNP:rs76500263Ensembl.1
Natural variantiVAR_032404209R → C in GD. 1 PublicationCorresponds to variant dbSNP:rs398123532Ensembl.1
Natural variantiVAR_003269209R → P in GD. 1 Publication1
Natural variantiVAR_032202213L → F in GD; 12% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs374591570Ensembl.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 dbSNP:rs80205046Ensembl.1
Natural variantiVAR_003272221P → T in GD. 1 PublicationCorresponds to variant dbSNP:rs866075757Ensembl.1
Natural variantiVAR_003273223W → R in GD; gene conversion. 1 PublicationCorresponds to variant dbSNP:rs61748906Ensembl.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 dbSNP:rs381418Ensembl.1
Natural variantiVAR_003274227N → S in GD; type 2. 3 PublicationsCorresponds to variant dbSNP:rs364897Ensembl.1
Natural variantiVAR_010060228G → V in GD. 1 PublicationCorresponds to variant dbSNP:rs78911246Ensembl.1
Natural variantiVAR_009038229A → E in GD; type 2. Corresponds to variant dbSNP:rs75636769Ensembl.1
Natural variantiVAR_032406229A → T in GD. 1 Publication1
Natural variantiVAR_032407230V → E in GD1; very low activity. 1 PublicationCorresponds to variant dbSNP:rs381427Ensembl.1
Natural variantiVAR_003276230V → G in GD1; gene conversion. 2 PublicationsCorresponds to variant dbSNP:rs381427Ensembl.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 dbSNP:rs74462743Ensembl.1
Natural variantiVAR_009039234G → W in GD. 1 Publication1
Natural variantiVAR_003278235S → P in GD; type 2; gene conversion. 2 PublicationsCorresponds to variant dbSNP:rs1064644Ensembl.1
Natural variantiVAR_032205237K → E in GD; severe; loss of activity; increases susceptibility to proteolytic degradation. 2 PublicationsCorresponds to variant dbSNP:rs773409311Ensembl.1
Natural variantiVAR_010061241G → E in GD. Corresponds to variant dbSNP:rs77451368Ensembl.1
Natural variantiVAR_003279241G → R in GD; type 1 and type 2; gene conversion. 7 PublicationsCorresponds to variant dbSNP:rs398123534Ensembl.1
Natural variantiVAR_010062244Y → C in GD. 1 PublicationCorresponds to variant dbSNP:rs76026102Ensembl.1
Natural variantiVAR_003280251Y → H in GD. Corresponds to variant dbSNP:rs121908300Ensembl.1
Natural variantiVAR_003281252F → I in GD; type 2; gene conversion. 6 PublicationsCorresponds to variant dbSNP:rs381737Ensembl.1
Natural variantiVAR_003282255F → Y in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs74500255Ensembl.1
Natural variantiVAR_032408270T → R in GD. 1 PublicationCorresponds to variant dbSNP:rs76725886Ensembl.1
Natural variantiVAR_003283276S → P in GD. 1
Natural variantiVAR_032409290F → L in GD; perinatal lethal form. 1 PublicationCorresponds to variant dbSNP:rs121908313Ensembl.1
Natural variantiVAR_009040294H → Q in GD1; also found in Gaucher disease type 2. 1 PublicationCorresponds to variant dbSNP:rs367968666Ensembl.1
Natural variantiVAR_003284296R → Q in GD; type 2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant dbSNP:rs78973108Ensembl.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 dbSNP:rs80116658Ensembl.1
Natural variantiVAR_003285305P → R in GD; mild. Corresponds to variant dbSNP:rs79215220Ensembl.1
Natural variantiVAR_010064310S → N in GD; less than 5% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs74731340Ensembl.1
Natural variantiVAR_003286324R → C in GD; type 1. 3 PublicationsCorresponds to variant dbSNP:rs765633380Ensembl.1
Natural variantiVAR_009042324R → H in GD; type 2. Corresponds to variant dbSNP:rs79696831Ensembl.1
Natural variantiVAR_003287328P → L in GD; mild. Corresponds to variant dbSNP:rs121908298Ensembl.1
Natural variantiVAR_003288342K → I in GD. Corresponds to variant dbSNP:rs77714449Ensembl.1
Natural variantiVAR_009043343Y → C in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs77321207Ensembl.1
Natural variantiVAR_003289348A → V in GD. Corresponds to variant dbSNP:rs78396650Ensembl.1
Natural variantiVAR_009044350H → R in perinatal lethal GD. 1 PublicationCorresponds to variant dbSNP:rs78198234Ensembl.1
Natural variantiVAR_003290351W → C in GD; mild. Corresponds to variant dbSNP:rs121908304Ensembl.1
Natural variantiVAR_003291352Y → H in GD. 1 Publication1
Natural variantiVAR_003292354D → H in GD. Corresponds to variant dbSNP:rs398123526Ensembl.1
Natural variantiVAR_003293357A → D in GD. Corresponds to variant dbSNP:rs78188205Ensembl.1
Natural variantiVAR_003294362T → I in GD; 6% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs76539814Ensembl.1
Natural variantiVAR_003295363L → P in GD; unknown pathological significance. 1 Publication1
Natural variantiVAR_003296364G → R in GD; type 2. 1 PublicationCorresponds to variant dbSNP:rs121908305Ensembl.1
Natural variantiVAR_003297365E → K in GD; mild; 42% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs2230288Ensembl.1
Natural variantiVAR_009045380A → T in GD. 2 PublicationsCorresponds to variant dbSNP:rs781306264Ensembl.1
Natural variantiVAR_003298381C → G in GD; type 2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908306Ensembl.1
Natural variantiVAR_032207388E → K in GD; 12% of normal activity. 1 Publication1
Natural variantiVAR_010065391V → L in GD. 1 PublicationCorresponds to variant dbSNP:rs398123527Ensembl.1
Natural variantiVAR_010066392R → G in GD. 1 PublicationCorresponds to variant dbSNP:rs121908308Ensembl.1
Natural variantiVAR_032208392R → W in GD; 5% of normal activity. 1 Publication1
Natural variantiVAR_003299398R → Q in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs74979486Ensembl.1
Natural variantiVAR_032412400M → I in GD. 1 PublicationCorresponds to variant dbSNP:rs149487315Ensembl.1
Natural variantiVAR_032209402Y → C in GD; 8% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs76228122Ensembl.1
Natural variantiVAR_003300403S → T in GD; mild. Corresponds to variant dbSNP:rs121908307Ensembl.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 dbSNP:rs75548401Ensembl.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 dbSNP:rs76763715Ensembl.1
Natural variantiVAR_032210410L → V in GD; 15% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs121908314Ensembl.1
Natural variantiVAR_010068414V → L in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs398123528Ensembl.1
Natural variantiVAR_003303416G → S in GD; mild. 2 PublicationsCorresponds to variant dbSNP:rs121908311Ensembl.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 dbSNP:rs77284004Ensembl.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 dbSNP:rs76910485Ensembl.1
Natural variantiVAR_003309431N → I in GD; type 2. 1 PublicationCorresponds to variant dbSNP:rs77738682Ensembl.1
Natural variantiVAR_009047432W → R in GD. 1 Publication1
Natural variantiVAR_003310433V → L in GD; severe; 12% of normal activity. 3 PublicationsCorresponds to variant dbSNP:rs80356769Ensembl.1
Natural variantiVAR_003311435N → T in GD1; mild. 1 PublicationCorresponds to variant dbSNP:rs75385858Ensembl.1
Natural variantiVAR_032214436F → S in GD; 6% of normal activity; alters protein stability and increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs75243000Ensembl.1
Natural variantiVAR_009048437V → F in perinatal lethal GD. 1 PublicationCorresponds to variant dbSNP:rs121908310Ensembl.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 dbSNP:rs74598136Ensembl.1
Natural variantiVAR_032414441I → F in GD; type 3. 1 Publication1
Natural variantiVAR_010072441I → T in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs75564605Ensembl.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 dbSNP:rs1064651Ensembl.1
Natural variantiVAR_003314448D → V in GD; severe; very low activity; alters protein stability. Corresponds to variant dbSNP:rs77369218Ensembl.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 dbSNP:rs121908295Ensembl.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 dbSNP:rs74752878Ensembl.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 dbSNP:rs421016Ensembl.1
Natural variantiVAR_003320483L → R in GD; severe. Corresponds to variant dbSNP:rs421016Ensembl.1
Natural variantiVAR_003322485A → P in GD. 1
Natural variantiVAR_032416490H → R in GD; type 1; associated with D-460. 2 PublicationsCorresponds to variant dbSNP:rs76071730Ensembl.1
Natural variantiVAR_003323495A → P in GD; gene conversion. 1 PublicationCorresponds to variant dbSNP:rs368060Ensembl.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 dbSNP:rs80356771Ensembl.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 dbSNP:rs121908301Ensembl.1
Natural variantiVAR_010075530T → I in GD3. 1 PublicationCorresponds to variant dbSNP:rs78016673Ensembl.1
Natural variantiVAR_003327535R → C in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs747506979Ensembl.1
Natural variantiVAR_003328535R → H in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs75822236Ensembl.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 dbSNP:rs77834747Ensembl.1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant dbSNP:rs398123530Ensembl.1
Natural variantiVAR_032405221P → L in GD1; very low activity. 1 PublicationCorresponds to variant dbSNP:rs80205046Ensembl.1
Natural variantiVAR_032407230V → E in GD1; very low activity. 1 PublicationCorresponds to variant dbSNP:rs381427Ensembl.1
Natural variantiVAR_003276230V → G in GD1; gene conversion. 2 PublicationsCorresponds to variant dbSNP:rs381427Ensembl.1
Natural variantiVAR_009040294H → Q in GD1; also found in Gaucher disease type 2. 1 PublicationCorresponds to variant dbSNP:rs367968666Ensembl.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 dbSNP:rs76763715Ensembl.1
Natural variantiVAR_003311435N → T in GD1; mild. 1 PublicationCorresponds to variant dbSNP:rs75385858Ensembl.1
Natural variantiVAR_010071440P → L in GD1. 2 PublicationsCorresponds to variant dbSNP:rs74598136Ensembl.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 dbSNP:rs421016Ensembl.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 Publication1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant dbSNP:rs398123530Ensembl.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 dbSNP:rs421016Ensembl.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 dbSNP:rs1064651Ensembl.1
Natural variantiVAR_010075530T → I in GD3. 1 PublicationCorresponds to variant dbSNP:rs78016673Ensembl.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 dbSNP:rs1064651Ensembl.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.
GeneReviewsiGBA.
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.
DrugBankiDB03106. Myo-Inositol.
DB03740. N-acetyl-alpha-D-glucosamine.
DB06720. 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...) asparagine2 Publications1
Glycosylationi98N-linked (GlcNAc...) asparagine3 Publications1
Glycosylationi185N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi309N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi501N-linked (GlcNAc...) asparagineSequence 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