General Information of DME (ID: DMEN169)
DME Name Acid beta-glucosidase (GBA1), Homo sapiens
Gene Name GBA1
UniProt ID
GBA1_HUMAN
EC Number    EC: 2.4.1.-     (Click to Show/Hide the Complete EC Tree)
Transferase
Glycosyltransferases
Hexosyltransferase
EC: 2.4.1.-
Lineage    Species: Homo sapiens     (Click to Show/Hide the Complete Species Lineage)
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
      Click to Show/Hide the Molecular/Functional Data (Sequence/Structure/Pathway/Function) of This DME
Sequence
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT
YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF
GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD
FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK
ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Structure
1OGS ; 1Y7V ; 2F61 ; 2J25 ; 2NSX ; 2NT0 ; 2NT1 ; 2V3D ; 2V3E ; 2V3F ; 2VT0 ; 2WCG ; 2WKL ; 2XWD ; 2XWE ; 3GXD ; 3GXF ; 3GXI ; 3GXM ; 3KE0 ; 3KEH ; 3RIK ; 3RIL ; 5LVX ; 6MOZ ; 6Q1N ; 6Q1P ; 6Q6K ; 6Q6L ; 6Q6N ; 6T13 ; 6TJJ ; 6TJK ; 6TJQ ; 6TN1 ; 6YTP ; 6YTR ; 6YUT ; 6YV3 ; 6Z39 ; 6Z3I ; 7NWV
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 . Plays a central role in the degradation of complex lipids and the turnover of cellular membranes . Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation . Catalyzes the glucosylation of cholesterol, through a transglucosylation reaction where glucose is transferred from GlcCer to cholesterol . 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) . Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl 3-beta-D-glucoside to ceramide (Probable). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol . 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 . 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 .
Full List of Drug(s) Metabolized by This DME
      Preclinical/investigative Agents Click to Show/Hide the Full List of Drugs:          1 Drugs
Esculin
Drug Info Investigative Appendicitis ICD11: DB10 [1]
Full List of Metabolic Reactions (MR) Catalyzed by This DME
MR ID Reactant Product MR Type Source Drug REF
MR004240 Esculin Esculetin Hydrolysis - Hydrolyzation Esculin [1]
References
1 A prodrug approach to the use of coumarins as potential therapeutics for superficial mycoses. PLoS One. 2013 Nov 18;8(11):e80760.

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