ID B4DMV8_HUMAN Unreviewed; 302 AA.
AC B4DMV8;
DT 23-SEP-2008, integrated into UniProtKB/TrEMBL.
DT 23-SEP-2008, sequence version 1.
DT 27-MAR-2024, entry version 59.
DE RecName: Full=Glucosylceramidase {ECO:0000256|RuleBase:RU361188};
DE EC=3.2.1.45 {ECO:0000256|RuleBase:RU361188};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606 {ECO:0000313|EMBL:BAG60020.1};
RN [1] {ECO:0000313|EMBL:BAG60020.1}
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Brain {ECO:0000313|EMBL:BAG60020.1};
RA Wakamatsu A., Yamamoto J., Kimura K., Ishii S., Watanabe K., Sugiyama A.,
RA Murakawa K., Kaida T., Tsuchiya K., Fukuzumi Y., Kumagai A., Oishi Y.,
RA Yamamoto S., Ono Y., Komori Y., Yamazaki M., Kisu Y., Nishikawa T.,
RA Sugano S., Nomura N., Isogai T.;
RT "NEDO human cDNA sequencing project focused on splicing variants.";
RL Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=1-(beta-D-galactosyl)-N-dodecanoylsphing-4-enine + cholesterol
CC = cholesteryl 3-beta-D-galactoside + N-dodecanoylsphing-4-enine;
CC Xref=Rhea:RHEA:70255, ChEBI:CHEBI:16113, ChEBI:CHEBI:72956,
CC ChEBI:CHEBI:73432, ChEBI:CHEBI:189066;
CC Evidence={ECO:0000256|ARBA:ARBA00033703};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70256;
CC Evidence={ECO:0000256|ARBA:ARBA00033703};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70257;
CC Evidence={ECO:0000256|ARBA:ARBA00033703};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an
CC N-acylsphing-4-enine + D-galactose; Xref=Rhea:RHEA:14297,
CC ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:18390,
CC ChEBI:CHEBI:52639; EC=3.2.1.46;
CC Evidence={ECO:0000256|ARBA:ARBA00033698};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:14298;
CC Evidence={ECO:0000256|ARBA:ARBA00033698};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine +
CC cholesterol = an N-acylsphing-4-enine + cholesteryl 3-beta-D-
CC galactoside; Xref=Rhea:RHEA:70235, ChEBI:CHEBI:16113,
CC ChEBI:CHEBI:18390, ChEBI:CHEBI:52639, ChEBI:CHEBI:189066;
CC Evidence={ECO:0000256|ARBA:ARBA00033611};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70236;
CC Evidence={ECO:0000256|ARBA:ARBA00033611};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70237;
CC Evidence={ECO:0000256|ARBA:ARBA00033611};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-
CC acylsphing-4-enine + D-glucose; Xref=Rhea:RHEA:13269,
CC ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:22801,
CC ChEBI:CHEBI:52639; EC=3.2.1.45;
CC Evidence={ECO:0000256|ARBA:ARBA00001013};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13270;
CC Evidence={ECO:0000256|ARBA:ARBA00001013};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + cholesterol
CC = an N-acylsphing-4-enine + cholesteryl 3-beta-D-glucoside;
CC Xref=Rhea:RHEA:58264, ChEBI:CHEBI:16113, ChEBI:CHEBI:17495,
CC ChEBI:CHEBI:22801, ChEBI:CHEBI:52639;
CC Evidence={ECO:0000256|ARBA:ARBA00033647};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:58265;
CC Evidence={ECO:0000256|ARBA:ARBA00033647};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:58266;
CC Evidence={ECO:0000256|ARBA:ARBA00033647};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a beta-D-xylosyl-(1<->1')-N-acylsphing-4-enine + cholesterol =
CC an N-acylsphing-4-enine + cholesteryl 3-beta-D-xyloside;
CC Xref=Rhea:RHEA:70239, ChEBI:CHEBI:16113, ChEBI:CHEBI:52639,
CC ChEBI:CHEBI:189067, ChEBI:CHEBI:189068;
CC Evidence={ECO:0000256|ARBA:ARBA00033608};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70240;
CC Evidence={ECO:0000256|ARBA:ARBA00033608};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=beta-D-glucosyl-(1<->1')-N-(15Z-tetracosenoyl)-sphing-4-enine
CC + cholesterol = cholesteryl 3-beta-D-glucoside + N-(15Z-
CC tetracosenoyl)-sphing-4-enine; Xref=Rhea:RHEA:70315,
CC ChEBI:CHEBI:16113, ChEBI:CHEBI:17495, ChEBI:CHEBI:74450,
CC ChEBI:CHEBI:76302; Evidence={ECO:0000256|ARBA:ARBA00035592};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70316;
CC Evidence={ECO:0000256|ARBA:ARBA00035592};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70317;
CC Evidence={ECO:0000256|ARBA:ARBA00035592};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=beta-D-glucosyl-(1<->1)-N-octadecanoylsphing-4-enine +
CC cholesterol = cholesteryl 3-beta-D-glucoside + N-octadecanoylsphing-
CC 4-enine; Xref=Rhea:RHEA:70311, ChEBI:CHEBI:16113, ChEBI:CHEBI:17495,
CC ChEBI:CHEBI:72961, ChEBI:CHEBI:84719;
CC Evidence={ECO:0000256|ARBA:ARBA00033636};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70312;
CC Evidence={ECO:0000256|ARBA:ARBA00033636};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70313;
CC Evidence={ECO:0000256|ARBA:ARBA00033636};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=beta-D-glucosyl-N-(9Z-octadecenoyl)-sphing-4E-enine +
CC cholesterol = cholesteryl 3-beta-D-glucoside + N-(9Z-octadecenoyl)-
CC sphing-4-enine; Xref=Rhea:RHEA:58324, ChEBI:CHEBI:16113,
CC ChEBI:CHEBI:17495, ChEBI:CHEBI:77996, ChEBI:CHEBI:139140;
CC Evidence={ECO:0000256|ARBA:ARBA00033685};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:58325;
CC Evidence={ECO:0000256|ARBA:ARBA00033685};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:58326;
CC Evidence={ECO:0000256|ARBA:ARBA00033685};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=beta-D-glucosyl-N-dodecanoylsphing-4-enine + cholesterol =
CC cholesteryl 3-beta-D-glucoside + N-dodecanoylsphing-4-enine;
CC Xref=Rhea:RHEA:70307, ChEBI:CHEBI:16113, ChEBI:CHEBI:17495,
CC ChEBI:CHEBI:72956, ChEBI:CHEBI:76297;
CC Evidence={ECO:0000256|ARBA:ARBA00033694};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70308;
CC Evidence={ECO:0000256|ARBA:ARBA00033694};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70309;
CC Evidence={ECO:0000256|ARBA:ARBA00033694};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=beta-D-glucosyl-N-octanoylsphing-4E-enine + cholesterol =
CC cholesteryl 3-beta-D-glucoside + N-octanoylsphing-4-enine;
CC Xref=Rhea:RHEA:70303, ChEBI:CHEBI:16113, ChEBI:CHEBI:17495,
CC ChEBI:CHEBI:45815, ChEBI:CHEBI:65222;
CC Evidence={ECO:0000256|ARBA:ARBA00033641};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70304;
CC Evidence={ECO:0000256|ARBA:ARBA00033641};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70305;
CC Evidence={ECO:0000256|ARBA:ARBA00033641};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=beta-D-xylosyl-(1<->1')-N-(9Z-octadecenoyl)-sphing-4-enine +
CC cholesterol = cholesteryl 3-beta-D-xyloside + N-(9Z-octadecenoyl)-
CC sphing-4-enine; Xref=Rhea:RHEA:70251, ChEBI:CHEBI:16113,
CC ChEBI:CHEBI:77996, ChEBI:CHEBI:189067, ChEBI:CHEBI:189081;
CC Evidence={ECO:0000256|ARBA:ARBA00033633};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70252;
CC Evidence={ECO:0000256|ARBA:ARBA00033633};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=cholesteryl 3-beta-D-glucoside + H2O = cholesterol + D-
CC glucose; Xref=Rhea:RHEA:11956, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377,
CC ChEBI:CHEBI:16113, ChEBI:CHEBI:17495;
CC Evidence={ECO:0000256|ARBA:ARBA00033646};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11957;
CC Evidence={ECO:0000256|ARBA:ARBA00033646};
CC -!- PATHWAY: Sphingolipid metabolism. {ECO:0000256|ARBA:ARBA00004991}.
CC -!- PATHWAY: Steroid metabolism; cholesterol metabolism.
CC {ECO:0000256|ARBA:ARBA00004731}.
CC -!- SUBCELLULAR LOCATION: Lysosome membrane
CC {ECO:0000256|ARBA:ARBA00004207}; Peripheral membrane protein
CC {ECO:0000256|ARBA:ARBA00004207}; Lumenal side
CC {ECO:0000256|ARBA:ARBA00004207}.
CC -!- SIMILARITY: Belongs to the glycosyl hydrolase 30 family.
CC {ECO:0000256|ARBA:ARBA00005382, ECO:0000256|RuleBase:RU361188}.
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DR EMBL; AK297653; BAG60020.1; -; mRNA.
DR AlphaFoldDB; B4DMV8; -.
DR Allergome; 8244; Hom s Glucocerebrosidase.
DR PeptideAtlas; B4DMV8; -.
DR UniPathway; UPA00296; -.
DR GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0004336; F:galactosylceramidase activity; IEA:RHEA.
DR GO; GO:0004348; F:glucosylceramidase activity; IEA:UniProtKB-EC.
DR GO; GO:0050295; F:steryl-beta-glucosidase activity; IEA:RHEA.
DR GO; GO:0008203; P:cholesterol metabolic process; IEA:UniProtKB-UniPathway.
DR GO; GO:0006665; P:sphingolipid metabolic process; IEA:UniProtKB-KW.
DR Gene3D; 3.20.20.80; Glycosidases; 1.
DR InterPro; IPR001139; Glyco_hydro_30.
DR InterPro; IPR033453; Glyco_hydro_30_TIM-barrel.
DR InterPro; IPR017853; Glycoside_hydrolase_SF.
DR PANTHER; PTHR11069; GLUCOSYLCERAMIDASE; 1.
DR PANTHER; PTHR11069:SF34; GLUCOSYLCERAMIDASE; 1.
DR Pfam; PF02055; Glyco_hydro_30; 1.
DR PRINTS; PR00843; GLHYDRLASE30.
DR SUPFAM; SSF51445; (Trans)glycosidases; 1.
PE 2: Evidence at transcript level;
KW Glycosidase {ECO:0000256|RuleBase:RU361188};
KW Hydrolase {ECO:0000256|ARBA:ARBA00022801, ECO:0000256|RuleBase:RU361188};
KW Lipid metabolism {ECO:0000256|RuleBase:RU361188};
KW Signal {ECO:0000256|ARBA:ARBA00022729};
KW Sphingolipid metabolism {ECO:0000256|RuleBase:RU361188}.
FT DOMAIN 26..299
FT /note="Glycosyl hydrolase family 30 TIM-barrel"
FT /evidence="ECO:0000259|Pfam:PF02055"
SQ SEQUENCE 302 AA; 34299 MW; 144F45CA39C0C658 CRC64;
MCLQPLQEQK QWALDGAEYR TIQANCTGTG IGYNTIWVPM ASCDFSIRTY TYADTPDDFQ
LHNFSLPEED TKLKIPLIHR ALQLAQRPVS LLASPWTSPT RLKTKGAGNG KGPLKGQPRD
IYHQTWARYI VKFLDAYAEH KLQFWAVTAE NEPSAGLLSG YPFQCLGFTP EHQRDFIARD
LGPTLANGAH HNVRPLMLDD QRLLLPHWAK VVLTDPEAAK YVHGIAVHWY LDFLAPAKAT
LRETHHLFPN TMLFASEACV GSKFWEQSVR LGSWDRGMQY SHSIITNLLY HVVGWTDWNP
SL
//
