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Protein

Lysosomal acid glucosylceramidase

Gene

GBA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

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

Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485). The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485). Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485).5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Synergistically activated by saposin-A and saposin-C, two saposin peptides produced by proteolytic processing of prosaposin/PSAP (PubMed:9201993). Saposin-C activates GBA through its recruitment to membranes (PubMed:10781797, PubMed:9201993). The membrane structure and composition in anionic phospholipids are also important for the activition (PubMed:9201993, PubMed:10781797). Activated by PKC in the salvage pathway of ceramide formation (PubMed:19279011). Inhibited by conduritol B epoxide/CBE (PubMed:24211208, PubMed:26724485).5 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Optimum pH is 5.3.1 Publication

Temperature dependencei

Optimum temperature is 43 degrees Celsius.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: cholesterol metabolism

This protein is involved in the pathway cholesterol metabolism, which is part of Steroid metabolism.2 Publications
View all proteins of this organism that are known to be involved in the pathway cholesterol metabolism and in Steroid metabolism.

Pathwayi: Sphingolipid metabolism

This protein is involved in Sphingolipid metabolism.4 Publications
View all proteins of this organism that are known to be involved in Sphingolipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei274Proton donor1 Publication1
Active sitei379Nucleophile1 Publication1

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

  • glucosylceramidase activity Source: UniProtKB
  • hydrolase activity Source: GO_Central
  • scavenger receptor binding Source: ARUK-UCL
  • signaling receptor binding Source: BHF-UCL

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Glycosyltransferase, Hydrolase, Transferase
Biological processCholesterol metabolism, Lipid metabolism, Sphingolipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.2.1.45 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00296

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GH30 Glycoside Hydrolase Family 30

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001387

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lysosomal acid glucosylceramidaseCurated (EC:3.2.1.453 Publications)
Short name:
Lysosomal acid GCase1 Publication
Alternative name(s):
Acid beta-glucosidase
Alglucerase
Beta-glucocerebrosidase
Short name:
Beta-GC
Cholesterol glucosyltransferase1 Publication (EC:2.4.1.-2 Publications)
Short name:
SGTase1 Publication
Cholesteryl-beta-glucosidase1 Publication (EC:3.2.1.1042 Publications)
D-glucosyl-N-acylsphingosine glucohydrolase
Imiglucerase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GBAImported
Synonyms:GC, GLUC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000177628.15

Human Gene Nomenclature Database

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HGNCi
HGNC:4177 GBA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606463 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P04062

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Gaucher disease (GD)39 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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00325554V → L in GD. 1 PublicationCorresponds to variant dbSNP:rs121908302EnsemblClinVar.1
Natural variantiVAR_03239455C → S in GD; neuronopathic and perinatal lethal forms; loss of glucosylceramidase activity. 3 PublicationsCorresponds to variant dbSNP:rs773007510Ensembl.1
Natural variantiVAR_00325676F → V in GD. 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:rs77829017EnsemblClinVar.1
Natural variantiVAR_03219787R → Q in GD; decreased glucosylceramidase activity; 20% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs78769774Ensembl.1
Natural variantiVAR_00325987R → W in GD; mild. 3 PublicationsCorresponds to variant dbSNP:rs1141814EnsemblClinVar.1
Natural variantiVAR_003260118K → N in GD; mild; decreased glucosylceramidase activity; 8% of normal activity; increases susceptibility to proteolytic degradation. 2 PublicationsCorresponds to variant dbSNP:rs121908312EnsemblClinVar.1
Natural variantiVAR_032397129A → T in GD. 1 Publication1
Natural variantiVAR_009034146S → L in GD; type 2. 1 PublicationCorresponds to variant dbSNP:rs758447515EnsemblClinVar.1
Natural variantiVAR_003261152G → E in GD. 1 Publication1
Natural variantiVAR_032398156N → D in GD. 1 Publication1
Natural variantiVAR_003262158I → T in GD. 1
Natural variantiVAR_003263159R → Q in GD; type 2; decreased glucosylceramidase activity; 13% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs79653797EnsemblClinVar.1
Natural variantiVAR_003264159R → W in GD; severe. 3 PublicationsCorresponds to variant dbSNP:rs439898EnsemblClinVar.1
Natural variantiVAR_032198161P → L in GD; decreased glucosylceramidase activity; 16% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs79637617Ensembl.1
Natural variantiVAR_003265161P → S in GD; mild. Corresponds to variant dbSNP:rs121908299EnsemblClinVar.1
Natural variantiVAR_032199162M → V in GD; loss of glucosylceramidase activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs377325220Ensembl.1
Natural variantiVAR_032200166D → V in GD; decreased glucosylceramidase activity; 9% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs79796061Ensembl.1
Natural variantiVAR_009036170R → L in GD. 1 PublicationCorresponds to variant dbSNP:rs80356763EnsemblClinVar.1
Natural variantiVAR_032400173T → I in GD. 1 PublicationCorresponds to variant dbSNP:rs78657146Ensembl.1
Natural variantiVAR_003266173T → P in GD. 2 PublicationsCorresponds to variant dbSNP:rs1441909908Ensembl.1
Natural variantiVAR_032401175A → E in GD. 1 PublicationCorresponds to variant dbSNP:rs79660787Ensembl.1
Natural variantiVAR_003267179D → H in GD; decreased glucosylceramide catabolic process. 2 PublicationsCorresponds to variant dbSNP:rs147138516EnsemblClinVar.1
Natural variantiVAR_003268196K → Q in GD; severe; decreased protein abundance; decreased glucosylceramide catabolic process. 2 PublicationsCorresponds to variant dbSNP:rs121908297EnsemblClinVar.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; decreased glucosylceramidase activity; 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:rs398123532EnsemblClinVar.1
Natural variantiVAR_003269209R → P in GD. 1 Publication1
Natural variantiVAR_032202213L → F in GD, decreased glucosylceramidase activity; 12% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs374591570EnsemblClinVar.1
Natural variantiVAR_003270215A → D in GD. 1 Publication1
Natural variantiVAR_003271217P → S in GD; type 2. 1 Publication1
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:rs61748906EnsemblClinVar.1
Natural variantiVAR_032203224L → F in GD; decreased glucosylceramidase activity; 4% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication1
Natural variantiVAR_003275227N → K in GD; gene conversion. Corresponds to variant dbSNP:rs381418EnsemblClinVar.1
Natural variantiVAR_003274227N → S in GD and GD3; decreased glucosylceramide catabolic process. 4 PublicationsCorresponds to variant dbSNP:rs364897EnsemblClinVar.1
Natural variantiVAR_010060228G → V in GD. 1 PublicationCorresponds to variant dbSNP:rs78911246Ensembl.1
Natural variantiVAR_032406229A → T in GD. 1 Publication1
Natural variantiVAR_032204232G → E in GD; also found in a patient with Parkinson disease; decreased glucosylceramidase activity; 7% of normal activity. 2 Publications1
Natural variantiVAR_003277234G → E in GD; severe. 1 PublicationCorresponds to variant dbSNP:rs74462743EnsemblClinVar.1
Natural variantiVAR_009039234G → W in GD. 1 Publication1
Natural variantiVAR_032205237K → E in GD; severe; loss of glucosylceramidase 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_010062244Y → C in GD. 1 PublicationCorresponds to variant dbSNP:rs76026102Ensembl.1
Natural variantiVAR_003280251Y → H in GD. Corresponds to variant dbSNP:rs121908300EnsemblClinVar.1
Natural variantiVAR_003282255F → Y in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs74500255EnsemblClinVar.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:rs121908313EnsemblClinVar.1
Natural variantiVAR_032206303L → I in GD; decreased glucosylceramidase activity; 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; decreased glucosylceramidase activity; less than 5% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs74731340Ensembl.1
Natural variantiVAR_003287328P → L in GD; mild. Corresponds to variant dbSNP:rs121908298EnsemblClinVar.1
Natural variantiVAR_003288342K → I in GD. Corresponds to variant dbSNP:rs77714449Ensembl.1
Natural variantiVAR_003289348A → V in GD. Corresponds to variant dbSNP:rs78396650EnsemblClinVar.1
Natural variantiVAR_003290351W → C in GD; mild. Corresponds to variant dbSNP:rs121908304EnsemblClinVar.1
Natural variantiVAR_003291352Y → H in GD. 1 Publication1
Natural variantiVAR_003292354D → H in GD. Corresponds to variant dbSNP:rs398123526EnsemblClinVar.1
Natural variantiVAR_003293357A → D in GD. Corresponds to variant dbSNP:rs78188205Ensembl.1
Natural variantiVAR_003294362T → I in GD; decreased glucosylceramidase activity; 6% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs76539814EnsemblClinVar.1
Natural variantiVAR_003295363L → P in GD; unknown pathological significance. 1 Publication1
Natural variantiVAR_003297365E → K in GD and GD1; mild; decreased glucosylceramidase activity; 42% of normal activity. 4 PublicationsCorresponds to variant dbSNP:rs2230288EnsemblClinVar.1
Natural variantiVAR_009045380A → T in GD. 2 PublicationsCorresponds to variant dbSNP:rs781306264Ensembl.1
Natural variantiVAR_032207388E → K in GD; decreased glucosylceramidase activity; 12% of normal activity. 1 Publication1
Natural variantiVAR_010065391V → L in GD. 1 PublicationCorresponds to variant dbSNP:rs398123527EnsemblClinVar.1
Natural variantiVAR_010066392R → G in GD. 1 PublicationCorresponds to variant dbSNP:rs121908308EnsemblClinVar.1
Natural variantiVAR_032208392R → W in GD; decreased glucosylceramidase activity; 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; decreased glucosylceramidase activity; 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:rs121908307EnsemblClinVar.1
Natural variantiVAR_010067405S → G in GD. 1 Publication1
Natural variantiVAR_009046405S → N in GD. 1 PublicationCorresponds to variant dbSNP:rs1392291885Ensembl.1
Natural variantiVAR_003301408T → M in GD. 2 PublicationsCorresponds to variant dbSNP:rs75548401EnsemblClinVar.1
Natural variantiVAR_032210410L → V in GD; decreased glucosylceramidase activity; 15% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs121908314EnsemblClinVar.1
Natural variantiVAR_010068414V → L in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs398123528EnsemblClinVar.1
Natural variantiVAR_003303416G → S in GD; mild. 2 PublicationsCorresponds to variant dbSNP:rs121908311EnsemblClinVar.1
Natural variantiVAR_003304417W → G in GD. 1 Publication1
Natural variantiVAR_032211419D → H in GD; decreased glucosylceramidase activity; 4% of normal activity. 1 Publication1
Natural variantiVAR_003306419D → N in GD and GD1; loss of glucosylceramide catabolic process. 2 Publications1
Natural variantiVAR_032212421N → K in GD; decreased glucosylceramidase activity; 22% of normal activity. 1 Publication1
Natural variantiVAR_010069426P → L in GD. 1 PublicationCorresponds to variants dbSNP:rs1057519357 and dbSNP:rs994723035EnsemblEnsembl.1
Natural variantiVAR_032213429G → R in GD; decreased glucosylceramidase activity; 17% of normal activity. 1 Publication1
Natural variantiVAR_003308430P → L in GD. 1 PublicationCorresponds to variant dbSNP:rs76910485Ensembl.1
Natural variantiVAR_009047432W → R in GD. 1 Publication1
Natural variantiVAR_003310433V → L in GD; severe; decreased glucosylceramidase activity; 12% of normal activity. 3 PublicationsCorresponds to variant dbSNP:rs80356769EnsemblClinVar.1
Natural variantiVAR_032214436F → S in GD; decreased glucosylceramidase activity; 6% of normal activity; alters protein stability and increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs75243000Ensembl.1
Natural variantiVAR_032413438D → Y in GD. 1 Publication1
Natural variantiVAR_010072441I → T in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs75564605Ensembl.1
Natural variantiVAR_003314448D → V in GD; severe; very low activity; alters protein stability. Corresponds to variant dbSNP:rs77369218EnsemblClinVar.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_032215455M → V in GD; loss of glucosylceramidase 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_003319464K → E in GD; severe. 1
Natural variantiVAR_003320483L → R in GD; severe. Corresponds to variant dbSNP:rs421016EnsemblClinVar.1
Natural variantiVAR_003322485A → P in GD. 1
Natural variantiVAR_003323495A → P in GD; gene conversion. 1 PublicationCorresponds to variant dbSNP:rs368060EnsemblClinVar.1
Natural variantiVAR_032216500L → P in GD; decreased glucosylceramidase activity; 10% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs1362103320Ensembl.1
Natural variantiVAR_003324502R → C in GD; also found in patients with Parkinson disease; no effect on protein abundance; decreased glucosylceramidase activity; 37% of normal activity. 5 PublicationsCorresponds to variant dbSNP:rs80356771EnsemblClinVar.1
Natural variantiVAR_032217502R → P in GD; loss of glucosylceramidase activity; increases susceptibility to proteolytic degradation. 1 Publication1
Natural variantiVAR_003326517G → S in GD. Corresponds to variant dbSNP:rs121908301EnsemblClinVar.1
Natural variantiVAR_003327535R → C in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs747506979EnsemblClinVar.1
Natural variantiVAR_003328535R → H in GD; mild. 1 PublicationCorresponds to variant dbSNP:rs75822236EnsemblClinVar.1
Gaucher disease 1 (GD1)10 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_08118862C → W in GD1. 1 Publication1
Natural variantiVAR_03239563D → N in GD1; very low glucosylceramidase activity. 1 Publication1
Natural variantiVAR_032399158I → S in GD1; very low glucosylceramidase 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:rs398123530EnsemblClinVar.1
Natural variantiVAR_081189198P → S in GD1; decreased glucosylceramide catabolic process. 1 Publication1
Natural variantiVAR_032405221P → L in GD1; very low glucosylceramidase activity. 1 PublicationCorresponds to variant dbSNP:rs80205046Ensembl.1
Natural variantiVAR_032407230V → E in GD1; very low glucosylceramidase 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_003279241G → R in GD1 and GD2; gene conversion. 7 PublicationsCorresponds to variant dbSNP:rs409652EnsemblClinVar.1
Natural variantiVAR_081191266F → L in GD1. 1 Publication1
Natural variantiVAR_081193284P → T in GD1; loss of glucosylceramide catabolic process. 1 Publication1
Natural variantiVAR_081194289G → V in GD1. 1 Publication1
Natural variantiVAR_009040294H → Q in GD1 and GD2. 1 PublicationCorresponds to variant dbSNP:rs367968666EnsemblClinVar.1
Natural variantiVAR_081195301R → G in GD1. 1 Publication1
Natural variantiVAR_003286324R → C in GD1. 3 PublicationsCorresponds to variant dbSNP:rs765633380Ensembl.1
Natural variantiVAR_081197347I → S in GD1. 1 Publication1
Natural variantiVAR_081198351W → S in GD1; loss of glucosylceramide catabolic process. 1 Publication1
Natural variantiVAR_003297365E → K in GD and GD1; mild; decreased glucosylceramidase activity; 42% of normal activity. 4 PublicationsCorresponds to variant dbSNP:rs2230288EnsemblClinVar.1
Natural variantiVAR_081199405S → R in GD1; loss of glucosylceramide catabolic process. 1 Publication1
Natural variantiVAR_003302409N → S in GD1; mild; common mutation; associated with susceptibility to Parkinson disease; increased proteasomal degradation; decreased protein abundance; decreased glucosylceramide catabolic process; no effect on glucosylceramidase activity; alters interaction with saposin-C. 17 PublicationsCorresponds to variant dbSNP:rs76763715EnsemblClinVar.1
Natural variantiVAR_003306419D → N in GD and GD1; loss of glucosylceramide catabolic process. 2 Publications1
Natural variantiVAR_081200420W → C in GD1; loss of glucosylceramide catabolic process. 1 Publication1
Natural variantiVAR_003311435N → T in GD1; mild. 1 PublicationCorresponds to variant dbSNP:rs75385858Ensembl.1
Natural variantiVAR_003312438D → N in GD1 and GD2; decreased glucosylceramidase activity; 14% of normal activity; increases susceptibility to proteolytic degradation. 3 Publications1
Natural variantiVAR_010071440P → L in GD1. 2 PublicationsCorresponds to variant dbSNP:rs74598136EnsemblClinVar.1
Natural variantiVAR_003313448D → H in GD1 and GD3C; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low glucosylceramidase activity; alters protein stability. 11 PublicationsCorresponds to variant dbSNP:rs1064651EnsemblClinVar.1
Natural variantiVAR_032415460G → D in GD1; associated with R-490; loss of glucosylceramidase activity. 1 Publication1
Natural variantiVAR_003321483L → P in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; alters protein stability; increased proteasomal degradation; decreased protein abundance; very low glucosylceramide catabolic process; no effect on glucosylceramidase activity. 12 PublicationsCorresponds to variant dbSNP:rs421016EnsemblClinVar.1
Natural variantiVAR_081201486V → E in GD1. 1 Publication1
Natural variantiVAR_032416490H → R in GD1; associated with D-460. 2 PublicationsCorresponds to variant dbSNP:rs76071730Ensembl.1
Gaucher disease 2 (GD2)5 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:rs398123530EnsemblClinVar.1
Natural variantiVAR_081190227N → I in GD2; decreased glucosylceramide catabolic process. 1 Publication1
Natural variantiVAR_009038229A → E in GD2. Corresponds to variant dbSNP:rs75636769Ensembl.1
Natural variantiVAR_003278235S → P in GD2; gene conversion. 2 PublicationsCorresponds to variant dbSNP:rs1064644EnsemblClinVar.1
Natural variantiVAR_003279241G → R in GD1 and GD2; gene conversion. 7 PublicationsCorresponds to variant dbSNP:rs409652EnsemblClinVar.1
Natural variantiVAR_003281252F → I in GD2; gene conversion. 6 PublicationsCorresponds to variant dbSNP:rs381737EnsemblClinVar.1
Natural variantiVAR_081192274E → K in GD2; loss of glucosylceramide catabolic process. 1 Publication1
Natural variantiVAR_009040294H → Q in GD1 and GD2. 1 PublicationCorresponds to variant dbSNP:rs367968666EnsemblClinVar.1
Natural variantiVAR_003284296R → Q in GD2; also found in a patient with Parkinson disease. 3 PublicationsCorresponds to variant dbSNP:rs78973108EnsemblClinVar.1
Natural variantiVAR_009041298F → L in GD2; decreased glucosylceramidase activity; 4% of normal activity. 2 Publications1
Natural variantiVAR_009042324R → H in GD2. Corresponds to variant dbSNP:rs79696831Ensembl.1
Natural variantiVAR_009043343Y → C in GD2; decreased glucosylceramidase activity; 16% of normal activity; increases susceptibility to proteolytic degradation. 1 PublicationCorresponds to variant dbSNP:rs77321207Ensembl.1
Natural variantiVAR_003296364G → R in GD2. 1 PublicationCorresponds to variant dbSNP:rs121908305EnsemblClinVar.1
Natural variantiVAR_003298381C → G in GD2; loss of glucosylceramidase activity. 1 PublicationCorresponds to variant dbSNP:rs121908306EnsemblClinVar.1
Natural variantiVAR_003305419D → A in GD2; also found in a patient with Parkinson disease. 1 PublicationCorresponds to variant dbSNP:rs77284004Ensembl.1
Natural variantiVAR_003307428G → E in GD2. 1 Publication1
Natural variantiVAR_003309431N → I in GD2. 1 PublicationCorresponds to variant dbSNP:rs77738682Ensembl.1
Natural variantiVAR_003312438D → N in GD1 and GD2; decreased glucosylceramidase activity; 14% of normal activity; increases susceptibility to proteolytic degradation. 3 Publications1
Natural variantiVAR_003316454P → R in GD2. Corresponds to variant dbSNP:rs121908295EnsemblClinVar.1
Natural variantiVAR_003321483L → P in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; alters protein stability; increased proteasomal degradation; decreased protein abundance; very low glucosylceramide catabolic process; no effect on glucosylceramidase activity. 12 PublicationsCorresponds to variant dbSNP:rs421016EnsemblClinVar.1
Natural variantiVAR_009049501N → K in GD2. 1 Publication1
Natural variantiVAR_009050513D → Y in GD2. 1 Publication1
Gaucher disease 3 (GD3)2 Publications
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_003274227N → S in GD and GD3; decreased glucosylceramide catabolic process. 4 PublicationsCorresponds to variant dbSNP:rs364897EnsemblClinVar.1
Natural variantiVAR_081196304G → R in GD3; loss of glucosylceramide catabolic process. 1 Publication1
Natural variantiVAR_010070437V → L in GD3. 1 Publication1
Natural variantiVAR_032414441I → F in GD3. 1 Publication1
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 GD1 and GD3C; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low glucosylceramidase activity; alters protein stability. 11 PublicationsCorresponds to variant dbSNP:rs1064651EnsemblClinVar.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

<p>This subsection of the ‘Pathology and Biotech’ section describes the use of a protein as a pharmaceutical drug. It indicates the name of the drug, the name of the firm that commercializes it and explains in a few words in which context the drug is used. In some cases, drugs that are under development are also described.<p><a href='/help/pharmaceutical_use' target='_top'>More...</a></p>Pharmaceutical usei

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi43C → S: Loss of glucosylceramidase activity. 1 Publication1
Mutagenesisi57C → S: Loss of glucosylceramidase activity. 1 Publication1
Mutagenesisi62C → S: Loss of glucosylceramidase activity. 1 Publication