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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...

Keywordsi

Molecular functionGlycosidase, Hydrolase
Biological processLipid 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

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. Corresponds to variant dbSNP:rs1219083021 PublicationEnsembl.1
Natural variantiVAR_03239455C → S in GD; neuronopathic and perinatal lethal forms; loss of activity. Corresponds to variant dbSNP:rs7730075103 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs11418081 PublicationEnsembl.1
Natural variantiVAR_00325782T → I in GD. Corresponds to variant dbSNP:rs1141811Ensembl.1
Natural variantiVAR_00325885G → E in GD. Corresponds to variant dbSNP:rs778290172 PublicationsEnsembl.1
Natural variantiVAR_03219787R → Q in GD; 20% of normal activity. Corresponds to variant dbSNP:rs787697741 PublicationEnsembl.1
Natural variantiVAR_00325987R → W in GD; mild. Corresponds to variant dbSNP:rs11418143 PublicationsEnsembl.1
Natural variantiVAR_003260118K → N in GD; mild; 8% of normal activity; increases susceptibility to proteolytic degradation. Corresponds to variant dbSNP:rs1219083122 PublicationsEnsembl.1
Natural variantiVAR_032397129A → T in GD. 1 Publication1
Natural variantiVAR_009034146S → L in GD; type 2. Corresponds to variant dbSNP:rs7584475151 PublicationEnsembl.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. Corresponds to variant dbSNP:rs778347471 PublicationEnsembl.1
Natural variantiVAR_003262158I → T in GD. 1
Natural variantiVAR_003263159R → Q in GD; type 2; 13% of normal activity. Corresponds to variant dbSNP:rs796537972 PublicationsEnsembl.1
Natural variantiVAR_003264159R → W in GD; severe. Corresponds to variant dbSNP:rs3975155153 PublicationsEnsembl.1
Natural variantiVAR_032198161P → L in GD; 16% of normal activity. Corresponds to variant dbSNP:rs796376171 PublicationEnsembl.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. Corresponds to variant dbSNP:rs3773252201 PublicationEnsembl.1
Natural variantiVAR_032200166D → V in GD; 9% of normal activity; increases susceptibility to proteolytic degradation. Corresponds to variant dbSNP:rs797960611 PublicationEnsembl.1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. Corresponds to variant dbSNP:rs3981235303 PublicationsEnsembl.1
Natural variantiVAR_009036170R → L in GD. Corresponds to variant dbSNP:rs803567631 PublicationEnsembl.1
Natural variantiVAR_032400173T → I in GD. Corresponds to variant dbSNP:rs786571461 PublicationEnsembl.1
Natural variantiVAR_003266173T → P in GD. 2 Publications1
Natural variantiVAR_032401175A → E in GD. Corresponds to variant dbSNP:rs796607871 PublicationEnsembl.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. Corresponds to variant dbSNP:rs802222981 PublicationEnsembl.1
Natural variantiVAR_032402198P → T in GD. 1 Publication1
Natural variantiVAR_032201200I → N in GD; 5% of normal activity. Corresponds to variant dbSNP:rs779330151 PublicationEnsembl.1
Natural variantiVAR_010059200I → S in GD. Corresponds to variant dbSNP:rs77933015Ensembl.1
Natural variantiVAR_032403201H → P in GD. Corresponds to variant dbSNP:rs765002631 PublicationEnsembl.1
Natural variantiVAR_032404209R → C in GD. Corresponds to variant dbSNP:rs3981235321 PublicationEnsembl.1
Natural variantiVAR_003269209R → P in GD. 1 Publication1
Natural variantiVAR_032202213L → F in GD; 12% of normal activity. Corresponds to variant dbSNP:rs3745915701 PublicationEnsembl.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. Corresponds to variant dbSNP:rs802050461 PublicationEnsembl.1
Natural variantiVAR_003272221P → T in GD. Corresponds to variant dbSNP:rs8660757571 PublicationEnsembl.1
Natural variantiVAR_003273223W → R in GD; gene conversion. Corresponds to variant dbSNP:rs617489061 PublicationEnsembl.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. Corresponds to variant dbSNP:rs3648973 PublicationsEnsembl.1
Natural variantiVAR_010060228G → V in GD. Corresponds to variant dbSNP:rs789112461 PublicationEnsembl.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. Corresponds to variant dbSNP:rs3814271 PublicationEnsembl.1
Natural variantiVAR_003276230V → G in GD1; gene conversion. Corresponds to variant dbSNP:rs3814272 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs744627431 PublicationEnsembl.1
Natural variantiVAR_009039234G → W in GD. 1 Publication1
Natural variantiVAR_003278235S → P in GD; type 2; gene conversion. Corresponds to variant dbSNP:rs10646442 PublicationsEnsembl.1
Natural variantiVAR_032205237K → E in GD; severe; loss of activity; increases susceptibility to proteolytic degradation. Corresponds to variant dbSNP:rs7734093112 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs3981235347 PublicationsEnsembl.1
Natural variantiVAR_010062244Y → C in GD. Corresponds to variant dbSNP:rs760261021 PublicationEnsembl.1
Natural variantiVAR_003280251Y → H in GD. Corresponds to variant dbSNP:rs121908300Ensembl.1
Natural variantiVAR_003281252F → I in GD; type 2; gene conversion. Corresponds to variant dbSNP:rs3817376 PublicationsEnsembl.1
Natural variantiVAR_003282255F → Y in GD; mild. Corresponds to variant dbSNP:rs745002551 PublicationEnsembl.1
Natural variantiVAR_032408270T → R in GD. Corresponds to variant dbSNP:rs767258861 PublicationEnsembl.1
Natural variantiVAR_003283276S → P in GD. 1
Natural variantiVAR_032409290F → L in GD; perinatal lethal form. Corresponds to variant dbSNP:rs1219083131 PublicationEnsembl.1
Natural variantiVAR_009040294H → Q in GD1; also found in Gaucher disease type 2. Corresponds to variant dbSNP:rs3679686661 PublicationEnsembl.1
Natural variantiVAR_003284296R → Q in GD; type 2; also found in a patient with Parkinson disease. Corresponds to variant dbSNP:rs789731083 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs747313401 PublicationEnsembl.1
Natural variantiVAR_003286324R → C in GD; type 1. Corresponds to variant dbSNP:rs7656333803 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs773212071 PublicationEnsembl.1
Natural variantiVAR_003289348A → V in GD. Corresponds to variant dbSNP:rs78396650Ensembl.1
Natural variantiVAR_009044350H → R in perinatal lethal GD. Corresponds to variant dbSNP:rs781982341 PublicationEnsembl.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. Corresponds to variant dbSNP:rs765398141 PublicationEnsembl.1
Natural variantiVAR_003295363L → P in GD. 1
Natural variantiVAR_003296364G → R in GD; type 2. Corresponds to variant dbSNP:rs1219083051 PublicationEnsembl.1
Natural variantiVAR_003297365E → K in GD; mild; 42% of normal activity. Corresponds to variant dbSNP:rs22302882 PublicationsEnsembl.1
Natural variantiVAR_009045380A → T in GD. Corresponds to variant dbSNP:rs7813062642 PublicationsEnsembl.1
Natural variantiVAR_003298381C → G in GD; type 2; loss of activity. Corresponds to variant dbSNP:rs1219083061 PublicationEnsembl.1
Natural variantiVAR_032207388E → K in GD; 12% of normal activity. 1 Publication1
Natural variantiVAR_010065391V → L in GD. Corresponds to variant dbSNP:rs3981235271 PublicationEnsembl.1
Natural variantiVAR_010066392R → G in GD. Corresponds to variant dbSNP:rs1219083081 PublicationEnsembl.1
Natural variantiVAR_032208392R → W in GD; 5% of normal activity. 1 Publication1
Natural variantiVAR_003299398R → Q in GD; mild. Corresponds to variant dbSNP:rs749794861 PublicationEnsembl.1
Natural variantiVAR_032412400M → I in GD. Corresponds to variant dbSNP:rs1494873151 PublicationEnsembl.1
Natural variantiVAR_032209402Y → C in GD; 8% of normal activity; increases susceptibility to proteolytic degradation. Corresponds to variant dbSNP:rs762281221 PublicationEnsembl.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. Corresponds to variant dbSNP:rs22302892 PublicationsEnsembl.1
Natural variantiVAR_003302409N → S in GD1; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C; mild. Corresponds to variant dbSNP:rs7676371515 PublicationsEnsembl.1
Natural variantiVAR_032210410L → V in GD; 15% of normal activity; increases susceptibility to proteolytic degradation. Corresponds to variant dbSNP:rs1219083141 PublicationEnsembl.1
Natural variantiVAR_010068414V → L in GD; mild. Corresponds to variant dbSNP:rs3981235281 PublicationEnsembl.1
Natural variantiVAR_003303416G → S in GD; mild. Corresponds to variant dbSNP:rs1219083112 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs772840041 PublicationEnsembl.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. Corresponds to variant dbSNP:rs769104851 PublicationEnsembl.1
Natural variantiVAR_003309431N → I in GD; type 2. Corresponds to variant dbSNP:rs777386821 PublicationEnsembl.1
Natural variantiVAR_009047432W → R in GD. 1 Publication1
Natural variantiVAR_003310433V → L in GD; severe; 12% of normal activity. Corresponds to variant dbSNP:rs803567693 PublicationsEnsembl.1
Natural variantiVAR_003311435N → T in GD1; mild. Corresponds to variant dbSNP:rs753858581 PublicationEnsembl.1
Natural variantiVAR_032214436F → S in GD; 6% of normal activity; alters protein stability and increases susceptibility to proteolytic degradation. Corresponds to variant dbSNP:rs752430001 PublicationEnsembl.1
Natural variantiVAR_009048437V → F in perinatal lethal GD. Corresponds to variant dbSNP:rs1219083101 PublicationEnsembl.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. Corresponds to variant dbSNP:rs745981362 PublicationsEnsembl.1
Natural variantiVAR_032414441I → F in GD; type 3. 1 Publication1
Natural variantiVAR_010072441I → T in GD; mild. Corresponds to variant dbSNP:rs755646051 PublicationEnsembl.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. Corresponds to variant dbSNP:rs106465110 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs747528782 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs42101611 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs760717302 PublicationsEnsembl.1
Natural variantiVAR_003323495A → P in GD; gene conversion. Corresponds to variant dbSNP:rs3680601 PublicationEnsembl.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. Corresponds to variant dbSNP:rs803567714 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs780166731 PublicationEnsembl.1
Natural variantiVAR_003327535R → C in GD; mild. Corresponds to variant dbSNP:rs7475069791 PublicationEnsembl.1
Natural variantiVAR_003328535R → H in GD; mild. Corresponds to variant dbSNP:rs758222361 PublicationEnsembl.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. Corresponds to variant dbSNP:rs778347471 PublicationEnsembl.1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. Corresponds to variant dbSNP:rs3981235303 PublicationsEnsembl.1
Natural variantiVAR_032405221P → L in GD1; very low activity. Corresponds to variant dbSNP:rs802050461 PublicationEnsembl.1
Natural variantiVAR_032407230V → E in GD1; very low activity. Corresponds to variant dbSNP:rs3814271 PublicationEnsembl.1
Natural variantiVAR_003276230V → G in GD1; gene conversion. Corresponds to variant dbSNP:rs3814272 PublicationsEnsembl.1
Natural variantiVAR_009040294H → Q in GD1; also found in Gaucher disease type 2. Corresponds to variant dbSNP:rs3679686661 PublicationEnsembl.1
Natural variantiVAR_003302409N → S in GD1; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C; mild. Corresponds to variant dbSNP:rs7676371515 PublicationsEnsembl.1
Natural variantiVAR_003311435N → T in GD1; mild. Corresponds to variant dbSNP:rs753858581 PublicationEnsembl.1
Natural variantiVAR_010071440P → L in GD1. Corresponds to variant dbSNP:rs745981362 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs42101611 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs11418081 PublicationEnsembl.1
Natural variantiVAR_009035170R → C in GD1 and GD2; also found in a patient with Parkinson disease. Corresponds to variant dbSNP:rs3981235303 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs42101611 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs106465110 PublicationsEnsembl.1
Natural variantiVAR_010075530T → I in GD3. Corresponds to variant dbSNP:rs780166731 PublicationEnsembl.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. Corresponds to variant dbSNP:rs106465110 PublicationsEnsembl.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
Helixi324 – 326Combined sources3
Helixi329 – 335Combined sources