ID B7Z7G9_HUMAN Unreviewed; 493 AA. AC B7Z7G9; DT 03-MAR-2009, integrated into UniProtKB/TrEMBL. DT 03-MAR-2009, sequence version 1. DT 27-MAR-2024, entry version 69. 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:BAH13605.1}; RN [1] {ECO:0000313|EMBL:BAH13605.1} RP NUCLEOTIDE SEQUENCE. RC TISSUE=Testis {ECO:0000313|EMBL:BAH13605.1}; 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK302000; BAH13605.1; -; mRNA. DR AlphaFoldDB; B7Z7G9; -. DR Allergome; 8244; Hom s Glucocerebrosidase. DR PeptideAtlas; B7Z7G9; -. DR UniPathway; UPA00296; -. DR GO; GO:0005765; C:lysosomal membrane; HDA:UniProtKB. DR GO; GO:0004336; F:galactosylceramidase activity; IEA:RHEA. DR GO; GO:0004348; F:glucosylceramidase activity; IEA:UniProtKB-EC. DR GO; GO:0016757; F:glycosyltransferase activity; IEA:UniProtKB-KW. 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; IPR033452; GH30_C. 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:SF33; LYSOSOMAL ACID GLUCOSYLCERAMIDASE; 1. DR Pfam; PF02055; Glyco_hydro_30; 1. DR Pfam; PF17189; Glyco_hydro_30C; 1. DR PRINTS; PR00843; GLHYDRLASE30. DR SUPFAM; SSF51445; (Trans)glycosidases; 1. DR SUPFAM; SSF51011; Glycosyl hydrolase domain; 2. PE 2: Evidence at transcript level; KW Glycosidase {ECO:0000256|RuleBase:RU361188}; KW Glycosyltransferase {ECO:0000256|ARBA:ARBA00022676}; 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|ARBA:ARBA00022919, KW ECO:0000256|RuleBase:RU361188}; KW Transferase {ECO:0000256|ARBA:ARBA00022676}. FT DOMAIN 74..423 FT /note="Glycosyl hydrolase family 30 TIM-barrel" FT /evidence="ECO:0000259|Pfam:PF02055" FT DOMAIN 426..488 FT /note="Glycosyl hydrolase family 30 beta sandwich" FT /evidence="ECO:0000259|Pfam:PF17189" SQ SEQUENCE 493 AA; 55401 MW; 394AB7550943E9A9 CRC64; MTLRGWSFQV LPERNATYCD SFDPPTFPAL GTFSRYESTR SGRRMELSMG PIQANHTGTG LLLTLQPEQK FQKVKGFGGA MTDAAALNIL ALSPPAQNLL LKSYFSEEGI GYNIIRVPMA SCDFSIRTYT YADTPDDFQL HNFSLPEEDT KLKIPLIHRA LQLAQRPVSL LASPWTSPTW LKTNGAVNGK GSLKGQPGDI YHQTWARYFV KFLDAYAEHK LQFWAVTAEN EPSAGLLSGY PFQCLGFTPE HQRDFIARDL GPTLANSTHH NVRLLMLDDQ RLLLPHWAKV VLTDPEAAKY VHGIAVHWYL DFLAPAKATL GETHRLFPNT MLFASEACVG SKFWEQSVRL GSWDRGMQYS HSIITNLLYH VVGWTDWNLA LNPEGGPNWV RNFVDSPIIV DITKDTFYKQ PMFYHLGHFS KFIPEGSQRV GLVASQKNDL DAVALMHPDG SAVVVVLNRS SKDVPLTIKD PAVGFLETIS PGYSIHTYLW RRQ //