General Information of the Protein
Protein ID |
PT01122
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Protein Name |
Lysosomal acid glucosylceramidase
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Secondarily Protein Name |
Acid beta-glucosidase
Alglucerase
Beta-glucocerebrosidase
Beta-glucosylceramidase 1
Cholesterol glucosyltransferase
Cholesteryl-beta-glucosidase
D-glucosyl-N-acylsphingosine glucohydrolase
Glucosylceramidase beta 1
Imiglucerase
Lysosomal cholesterol glycosyltransferase
Lysosomal galactosylceramidase
Lysosomal glycosylceramidase
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Gene Name |
GBA1
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Secondarily Gene Name |
GBA
GC
GLUC
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Sequence |
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
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Organism |
Homo sapiens, Human
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Protein Classification |
Enzyme
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Function |
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:9201993, PubMed:24211208, PubMed:15916907, PubMed:32144204). 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 (PubMed:26724485) (Probable). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol (PubMed:24211208, PubMed:26724485). 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).
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Uniprot ID |
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Subcellular Location |
Lysosome membrane
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Map of Molecular Bioactivity Related to the Protein
Map of Molecular Bioactivity Related to the Protein Protein Cell Line Compound Bioactivity Value: <= 0.1 μM > 0.1 μM and <= 10 μM > 10 μM Imprecise Activity |
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Table of Molecular Bioactivities Related to the Protein
Cell Line ID: CL000004 , SH-SY5Y
Biochemical Assays
Clinical Information about the Protein
Target 1 ( Glucosylceramidase (GBA) )
Target Type | Successful Target | ||||
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Disease | 1 Target-related Disease | 1 | |||
1 | Gaucher disease [ICD-11: 5C56.0Y] | ||||
Discontinued Drug(s) | 1 Discontinued Drug | 1 | |||
1 | Afegostat | Discontinued in Phase 2 | |||
Preclinical Drug(s) | 1 Preclinical Drug | 1 | |||
1 | N-Octyl-beta-valienamine | Preclinical |
Target 2 ( Lysosomal acid glucosylceramidase (GBA1) )
Target Type | Clinical trial Target |
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