{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P04062","secondaryAccessions":["A8K796","B7Z5G2","B7Z6S1","J3KQG4","J3KQK9","Q16545","Q4VX22","Q6I9R6","Q9UMJ8"],"uniProtkbId":"GBA1_HUMAN","entryAudit":{"firstPublicDate":"1986-11-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2004-11-09","entryVersion":276,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Lysosomal acid glucosylceramidase"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"24211208"}],"value":"Lysosomal acid GCase"}],"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293621"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32144204"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9201993"}],"value":"3.2.1.45"}]},"alternativeNames":[{"fullName":{"value":"Acid beta-glucosidase"}},{"fullName":{"value":"Alglucerase"}},{"fullName":{"value":"Beta-glucocerebrosidase"},"shortNames":[{"value":"Beta-GC"}]},{"fullName":{"value":"Beta-glucosylceramidase 1"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"24211208"}],"value":"Cholesterol glucosyltransferase"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"24211208"}],"value":"SGTase"}],"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26724485"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32144204"}],"value":"2.4.1.-"}]},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"24211208"}],"value":"Cholesteryl-beta-glucosidase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26724485"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32144204"}],"value":"3.2.1.-"}]},{"fullName":{"value":"D-glucosyl-N-acylsphingosine glucohydrolase"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:4177"}],"value":"Glucosylceramidase beta 1"}},{"fullName":{"value":"Imiglucerase"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Lysosomal cholesterol glycosyltransferase"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Lysosomal galactosylceramidase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32144204"}],"value":"3.2.1.46"}]},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Lysosomal glycosylceramidase"}}],"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:4177"}],"value":"GBA1"},"synonyms":[{"value":"GBA"},{"value":"GC"},{"value":"GLUC"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15916907"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19279011"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26724485"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27378698"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32144204"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33361282"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39395789"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9201993"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"32144204"}],"value":"Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose (PubMed:15916907, PubMed:24211208, PubMed:32144204, PubMed:39395789, PubMed:9201993). Plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Catalyzes the glucosylation of cholesterol, through a transglucosylation reaction where glucose is transferred from GlcCer to cholesterol (PubMed:24211208, PubMed:26724485, PubMed:32144204). GlcCer containing mono-unsaturated fatty acids (such as beta-D-glucosyl-N-(9Z-octadecenoyl)-sphing-4-enine) are preferred as glucose donors for cholesterol glucosylation when compared with GlcCer containing same chain length of saturated fatty acids (such as beta-D-glucosyl-N-octadecanoyl-sphing-4-enine) (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl 3-beta-D-glucoside to ceramide (Probable) (PubMed:26724485). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol (PubMed:24211208, PubMed:26724485, PubMed:39395789). Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the transfer of galactose between GalCers and cholesterol in vitro, but with lower activity than with GlcCers (PubMed:32144204). Contrary to GlcCer and GalCer, xylosylceramide/XylCer (such as beta-D-xyosyl-(1<->1')-N-acylsphing-4-enine) is not a good substrate for hydrolysis, however it is a good xylose donor for transxylosylation activity to form cholesteryl 3-beta-D-xyloside (PubMed:33361282). Can also metabolize plant glycosyl phytosterols such as glucosylstigmasterol (PubMed:39395789)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + 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N-octadecanoylsphing-4-enine","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:70311"},{"database":"ChEBI","id":"CHEBI:16113"},{"database":"ChEBI","id":"CHEBI:17495"},{"database":"ChEBI","id":"CHEBI:72961"},{"database":"ChEBI","id":"CHEBI:84719"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:70312"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"24211208"}]},{"directionType":"right-to-left","reactionCrossReference":{"database":"Rhea","id":"RHEA:70313"},"evidences":[{"evidenceCode":"ECO:0000305"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"beta-D-glucosyl-(1<->1')-N-(15Z-tetracosenoyl)-sphing-4-enine + cholesterol = N-(15Z-tetracosenoyl)-sphing-4-enine + cholesteryl 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D-glucose","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:62028"},{"database":"ChEBI","id":"CHEBI:4167"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:28824"},{"database":"ChEBI","id":"CHEBI:68383"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39395789"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:62029"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39395789"}]}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10781797"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19279011"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26724485"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9201993"}],"value":"Synergistically activated by saposin-A and saposin-C, two saposin peptides produced by proteolytic processing of prosaposin/PSAP (PubMed:9201993). Saposin-C activates GBA1 through its recruitment to membranes (PubMed:10781797, PubMed:9201993). The membrane structure and composition in anionic phospholipids are also important for the activation (PubMed:10781797, PubMed:9201993). Activated by PKC in the salvage pathway of ceramide formation (PubMed:19279011). Inhibited by conduritol B epoxide/CBE (PubMed:24211208, PubMed:26724485)"}],"commentType":"ACTIVITY REGULATION"},{"commentType":"BIOPHYSICOCHEMICAL PROPERTIES","phDependence":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"}],"value":"Optimum pH is 5.3."}]},"temperatureDependence":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"}],"value":"Optimum temperature is 43 degrees Celsius."}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26724485"}],"value":"Steroid metabolism; cholesterol metabolism"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293621"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24211208"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26724485"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9201993"}],"value":"Sphingolipid metabolism"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10781797"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18022370"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21098288"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23266198"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27789271"}],"value":"Interacts with saposin-C (PubMed:10781797). Interacts with SCARB2 (PubMed:18022370). Interacts with TCP1 (PubMed:21098288). May interact with SNCA; this interaction may inhibit the glucosylceramidase activity (PubMed:23266198). Interacts with GRN; this interaction prevents aggregation of GBA1-SCARB2 complex via interaction with HSPA1A upon stress (PubMed:27789271)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P04062","intActId":"EBI-1564609"},"interactantTwo":{"uniProtKBAccession":"P17987","geneName":"TCP1","intActId":"EBI-356553"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10781797"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18022370"}],"value":"Interaction with saposin-C promotes membrane association (PubMed:10781797). Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2 (PubMed:18022370)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17187079"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17897319"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18022370"}],"value":"Lysosome membrane","id":"SL-0157"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10781797"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18022370"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1848227"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18022370"}],"value":"Lumenal side","id":"SL-9914"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing","Alternative initiation"],"isoforms":[{"name":{"value":"Long"},"isoformIds":["P04062-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"Short"},"isoformIds":["P04062-2"],"sequenceIds":["VSP_018800"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["P04062-3"],"sequenceIds":["VSP_025216","VSP_025217","VSP_025218"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["P04062-4"],"sequenceIds":["VSP_054655"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["P04062-5"],"sequenceIds":["VSP_054656"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Gaucher disease","diseaseAccession":"DI-03092","acronym":"GD","description":"An autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD is a multisystem disease historically divided into three main subtypes on the basis of the presence of neurologic involvement, age at onset and progression rate: type 1 is the non-neuropathic form, type 2 is the acute neuropathic form with early onset and rapid neurologic deterioration, type 3 is the chronic neuropathic form with slow progression of neurologic features. GD shows a marked phenotypic diversity ranging from adult asymptomatic forms, at the mild end, to perinatal lethal forms at the severe end of the disease spectrum. Formal diagnosis of Gaucher disease is based on the measurement of glucocerebrosidase levels in circulating leukocytes and molecular genetic analysis.","diseaseCrossReference":{"database":"MIM","id":"230800"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10352942"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10447266"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10744424"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11933202"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11992489"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15292921"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15826241"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15916907"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293621"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17620502"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18332251"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1972019"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1974409"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19846850"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7475546"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7627184"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7627192"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8076951"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8294033"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8294487"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8432537"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8829654"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8829663"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8937765"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9061570"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9182788"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9217217"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9516376"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554454"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9650766"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Gaucher disease 1","diseaseAccession":"DI-01647","acronym":"GD1","description":"A form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.","diseaseCrossReference":{"database":"MIM","id":"230800"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10206680"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10340647"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10360404"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10796875"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11933202"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12204005"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1301953"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1487244"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15605411"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1864608"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1899336"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21098288"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22658918"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2269438"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24022302"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24434810"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24577513"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2508065"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27825739"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32547927"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36776904"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7655857"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7915932"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7916532"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8294487"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8432537"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8547070"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8598642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8790604"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8829663"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8889591"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9061570"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9153297"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9240741"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9295080"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554746"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9683600"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9856561"},{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.14"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Gaucher disease 2","diseaseAccession":"DI-01648","acronym":"GD2","description":"The most severe form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. 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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"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Parkinson disease","diseaseAccession":"DI-02134","acronym":"PARK","description":"A 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. 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