HUMAN:GLCM

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	GBA (synonyms: GC, GLUC)
Protein Name(s)	Glucosylceramidase Acid beta-glucosidase Alglucerase Beta-glucocerebrosidase Beta-GC D-glucosyl-N-acylsphingosine glucohydrolase Imiglucerase
External Links
UniProt	P04062
EMBL	M16328 K02920 J03059 D13286 D13287 AF023268 AK291911 AK298900 AK300829 AL713999 BC003356 M19285 M18916 M18917 M20248 M20282
CCDS	CCDS1102.1 CCDS53373.1 CCDS53374.1
PIR	A94068 I52980 I67792
RefSeq	NP_000148.2 NP_001005741.1 NP_001005742.1 NP_001165282.1 NP_001165283.1 XP_006711333.1
UniGene	Hs.282997
PDB	1OGS 1Y7V 2F61 2J25 2NSX 2NT0 2NT1 2V3D 2V3E 2V3F 2VT0 2WCG 2WKL 2XWD 2XWE 3GXD 3GXF 3GXI 3GXM 3KE0 3KEH 3RIK 3RIL
PDBsum	1OGS 1Y7V 2F61 2J25 2NSX 2NT0 2NT1 2V3D 2V3E 2V3F 2VT0 2WCG 2WKL 2XWD 2XWE 3GXD 3GXF 3GXI 3GXM 3KE0 3KEH 3RIK 3RIL
ProteinModelPortal	P04062
SMR	P04062
BioGrid	108899
DIP	DIP-38645N
IntAct	P04062
MINT	MINT-3004354
STRING	9606.ENSP00000314508
BindingDB	P04062
ChEMBL	CHEMBL2179
DrugBank	DB06720
Allergome	8244
CAZy	GH30
PhosphoSite	P04062
DMDM	55584151
MaxQB	P04062
PaxDb	P04062
PRIDE	P04062
DNASU	2629
Ensembl	ENST00000327247 ENST00000368373 ENST00000427500 ENST00000428024
GeneID	2629
KEGG	hsa:2629
UCSC	uc001fjh.3
CTD	2629
GeneCards	GC01M155204
GeneReviews	GBA
H-InvDB	HIX0001123
HGNC	HGNC:4177
HPA	HPA006667
MIM	168600 230800 230900 231000 231005 606463 608013
neXtProt	NX_P04062
Orphanet	1648 85212 2072 77259 77260 77261 319705 2828
PharmGKB	PA28591
eggNOG	COG5520
GeneTree	ENSGT00390000009464
HOVERGEN	HBG002285
InParanoid	P04062
KO	K01201
OMA	VWDHNRD
OrthoDB	EOG76DTRZ
PhylomeDB	P04062
TreeFam	TF314254
BRENDA	3.2.1.45
Reactome	REACT_116105
EvolutionaryTrace	P04062
GeneWiki	Glucocerebrosidase
GenomeRNAi	2629
NextBio	10357
PRO	PR:P04062
Proteomes	UP000005640
Bgee	P04062
CleanEx	HS_GBA HS_GC
ExpressionAtlas	P04062
Genevestigator	P04062
GO	GO:0070062 GO:0043202 GO:0005765 GO:0004348 GO:0005102 GO:0005975 GO:0071356 GO:0046513 GO:0006680 GO:0006687 GO:0050728 GO:0032715 GO:0043407 GO:0035307 GO:0033561 GO:0043627 GO:0051384 GO:0009268 GO:0033574 GO:0097066 GO:0043589 GO:0044281 GO:0006665 GO:0046512 GO:0023021
Gene3D	2.60.40.1180 3.20.20.80
InterPro	IPR013780 IPR001139 IPR013781 IPR017853
PANTHER	PTHR11069
Pfam	PF02055
PRINTS	PR00843
SUPFAM	SSF51445

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0005886	plasma membrane	PMID:19577566^[1]	ECO:0000314			C		Fig 3	complete
enables	GO:0004348	glucosylceramidase activity	PMID:16293621^[2]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0006680	glucosylceramide catabolic process	PMID:16293621^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0008203	cholesterol metabolic process	PMID:26724485^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0030259	lipid glycosylation	PMID:26724485^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0030259	lipid glycosylation	PMID:24211208^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0046527	glucosyltransferase activity	PMID:24211208^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0008203	cholesterol metabolic process	PMID:24211208^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0050295	steryl-beta-glucosidase activity	PMID:24211208^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0006680	glucosylceramide catabolic process	PMID:24211208^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	PMID:24211208^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0006680	glucosylceramide catabolic process	PMID:9201993^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	PMID:15916907^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P17439	C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P17439	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P17439	C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	PMID:17187079^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006680	glucosylceramide catabolic process	PMID:24022302^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005124	scavenger receptor binding	PMID:25202012^[9]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q14108	F		Seeded From UniProt	complete
part_of	GO:0019898	extrinsic component of membrane	PMID:25202012^[9]	ECO:0000303	author statement without traceable support used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:25202012^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006914	autophagy	PMID:27378698^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032006	regulation of TOR signaling	PMID:27378698^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007040	lysosome organization	PMID:27378698^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0046527	glucosyltransferase activity	PMID:26724485^[3]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0050295	steryl-beta-glucosidase activity	PMID:26724485^[3]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	PMID:9201993^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1901215	negative regulation of neuron death	PMID:26392287^[11]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P37840	P	regulates_o_occurs_in:(CL:0002614) part_of:(GO:0035967)	Seeded From UniProt	complete
involved_in	GO:0043243	positive regulation of protein complex disassembly	PMID:26392287^[11]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P37840) regulates_o_occurs_in:(UBERON:0002038)\|has_regulation_target(UniProtKB:P37840) regulates_o_occurs_in:(UBERON:0002435)	Seeded From UniProt	complete
involved_in	GO:1903061	positive regulation of protein lipidation	PMID:26392287^[11]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P37840	P	has_regulation_target:(UniProtKB:Q9H492) regulates_o_occurs_in:(UBERON:0002038) part_of:(GO:0035967)\|has_regulation_target(UniProtKB:Q9H492) regulates_o_occurs_in:(UBERON:0002435) part_of:(GO:0035967)	Seeded From UniProt	complete
NOT\|involved_in	GO:0007005	mitochondrion organization	PMID:25456120^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051247	positive regulation of protein metabolic process	PMID:26392287^[11]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P37840	P	has_regulation_target:(UniProtKB:Q13501) regulates_o_occurs_in:(UBERON:0002038) part_of:(GO:0035967)\|has_regulation_target(UniProtKB:Q13501) regulates_o_occurs_in:(UBERON:0002435)	Seeded From UniProt	complete
involved_in	GO:0032463	negative regulation of protein homooligomerization	PMID:26392287^[11]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P37840) regulates_o_occurs_in:(UBERON:0002038)\|has_regulation_target(UniProtKB:P37840) regulates_o_occurs_in:(UBERON:0002435)	Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	PMID:23580063^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1904457	positive regulation of neuronal action potential	PMID:25456120^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	regulates_o_occurs_in:(CL:2000097)	Seeded From UniProt	complete
NOT\|involved_in	GO:0036473	cell death in response to oxidative stress	PMID:25456120^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
NOT\|involved_in	GO:0031175	neuron projection development	PMID:25456120^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032268	regulation of cellular protein metabolic process	PMID:25456120^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P37840) regulates_o_occurs_in:(CL:0000700)	Seeded From UniProt	complete
involved_in	GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	PMID:21700325^[14]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000540)	Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	PMID:21700325^[14]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	occurs_in:(CL:0000540)	Seeded From UniProt	complete
involved_in	GO:0006680	glucosylceramide catabolic process	PMID:21700325^[14]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000540)	Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:23533145^[15]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0071356	cellular response to tumor necrosis factor	PMID:19279008^[16]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050728	negative regulation of inflammatory response	PMID:19279008^[16]	ECO:0000305	curator inference used in manual assertion	GO:0032715	P		Seeded From UniProt	complete
involved_in	GO:0046513	ceramide biosynthetic process	PMID:19279011^[17]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046512	sphingosine biosynthetic process	PMID:19279011^[17]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043407	negative regulation of MAP kinase activity	PMID:19279008^[16]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0043202	lysosomal lumen	PMID:18022370^[18]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P17439	C		Seeded From UniProt	complete
involved_in	GO:0035307	positive regulation of protein dephosphorylation	PMID:19279008^[16]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032715	negative regulation of interleukin-6 production	PMID:19279008^[16]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0023021	termination of signal transduction	PMID:19279008^[16]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006680	glucosylceramide catabolic process	PMID:19279011^[17]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	PMID:18022370^[18]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P17439	C		Seeded From UniProt	complete
enables	GO:0005102	signaling receptor binding	PMID:18022370^[18]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P17439	F		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	PMID:19279011^[17]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	PMID:17897319^[19]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	PMID:21873635^[20]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95665 PANTHER:PTN002476147	F		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	PMID:21873635^[20]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95665 PANTHER:PTN000869634	F		Seeded From UniProt	complete
involved_in	GO:0006680	glucosylceramide catabolic process	PMID:21873635^[20]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95665 PANTHER:PTN001667738 UniProtKB:P04062	P		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	PMID:21873635^[20]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0051148 FB:FBgn0051414 MGI:MGI:95665 PANTHER:PTN001667738 RGD:1589149 UniProtKB:P04062	F		Seeded From UniProt	complete
involved_in	GO:1901805	beta-glucoside catabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	P		Seeded From UniProt	complete
involved_in	GO:0097066	response to thyroid hormone	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	P		Seeded From UniProt	complete
involved_in	GO:0071548	response to dexamethasone	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	P		Seeded From UniProt	complete
involved_in	GO:0043627	response to estrogen	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	P		Seeded From UniProt	complete
involved_in	GO:0043589	skin morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	P		Seeded From UniProt	complete
involved_in	GO:0033574	response to testosterone	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	P		Seeded From UniProt	complete
involved_in	GO:0033561	regulation of water loss via skin	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	P		Seeded From UniProt	complete
involved_in	GO:0009268	response to pH	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	P		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	C		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:B2RYC9 ensembl:ENSRNOP00000063935	F		Seeded From UniProt	complete
involved_in	GO:1905037	autophagosome organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:1904925	positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0051246	regulation of protein metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
enables	GO:0046527	glucosyltransferase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	F		Seeded From UniProt	complete
part_of	GO:0043202	lysosomal lumen	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	C		Seeded From UniProt	complete
involved_in	GO:0032463	negative regulation of protein homooligomerization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0032269	negative regulation of cellular protein metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0032006	regulation of TOR signaling	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0030259	lipid glycosylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	F		Seeded From UniProt	complete
involved_in	GO:0009267	cellular response to starvation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0008203	cholesterol metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0007040	lysosome organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0006914	autophagy	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
involved_in	GO:0006680	glucosylceramide catabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	P		Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	C		Seeded From UniProt	complete
enables	GO:0005102	signaling receptor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	F		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17439 ensembl:ENSMUSP00000130660	F		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001139	F		Seeded From UniProt	complete
involved_in	GO:0006665	sphingolipid metabolic process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001139	P		Seeded From UniProt	complete
enables	GO:0050295	steryl-beta-glucosidase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.2.1.104	F		Seeded From UniProt	complete
enables	GO:0004348	glucosylceramidase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.2.1.45	F		Seeded From UniProt	complete
involved_in	GO:0016241	regulation of macroautophagy	PMID:26388395^[21]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1905165	regulation of lysosomal protein catabolic process	PMID:25456120^[12]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006687	glycosphingolipid metabolic process	Reactome:R-HSA-1660662	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	Reactome:R-HSA-1605591	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006629	lipid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0443	P		Seeded From UniProt	complete
involved_in	GO:0006665	sphingolipid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0746	P		Seeded From UniProt	complete
enables	GO:0016740	transferase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0808	F		Seeded From UniProt	complete
enables	GO:0016798	hydrolase activity, acting on glycosyl bonds	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0326	F		Seeded From UniProt	complete
enables	GO:0016757	transferase activity, transferring glycosyl groups	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0328	F		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F		Seeded From UniProt	complete
involved_in	GO:0008203	cholesterol metabolic process	GO_REF:0000037 GO_REF:0000041	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0153 UniPathway:UPA00296	P		Seeded From UniProt	complete
involved_in	GO:0008202	steroid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0753	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
involved_in	GO:0008152	metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0326	P		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0458	C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0157	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Aureli, M et al. (2009) Activity of plasma membrane beta-galactosidase and beta-glucosidase. FEBS Lett. 583 2469-73 PubMed GONUTS page
↑ ^2.0 ^2.1 Liou, B et al. (2006) Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J. Biol. Chem. 281 4242-53 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Marques, AR et al. (2016) Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases. J. Lipid Res. 57 451-63 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 Akiyama, H et al. (2013) Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1. Biochem. Biophys. Res. Commun. 441 838-43 PubMed GONUTS page
↑ ^5.0 ^5.1 Vaccaro, AM et al. (1997) Effect of saposins A and C on the enzymatic hydrolysis of liposomal glucosylceramide. J. Biol. Chem. 272 16862-7 PubMed GONUTS page
↑ Ron, I et al. () Use of fluorescent substrates for characterization of Gaucher disease mutations. Blood Cells Mol. Dis. 35 57-65 PubMed GONUTS page
↑ Lieberman, RL et al. (2007) Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat. Chem. Biol. 3 101-7 PubMed GONUTS page
↑ Malini, E et al. (2014) Functional analysis of 11 novel GBA alleles. Eur. J. Hum. Genet. 22 511-6 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Liou, B et al. (2014) The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases. J. Biol. Chem. 289 30063-74 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 Magalhaes, J et al. (2016) Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease. Hum. Mol. Genet. 25 3432-3445 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 ^11.3 ^11.4 Rocha, EM et al. (2015) Glucocerebrosidase gene therapy prevents α-synucleinopathy of midbrain dopamine neurons. Neurobiol. Dis. 82 495-503 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 ^12.3 ^12.4 ^12.5 Woodard, CM et al. (2014) iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease. Cell Rep 9 1173-82 PubMed GONUTS page
↑ Dermentzaki, G et al. (2013) Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. PLoS ONE 8 e60674 PubMed GONUTS page
↑ ^14.0 ^14.1 ^14.2 Mazzulli, JR et al. (2011) Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146 37-52 PubMed GONUTS page
↑ Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page
↑ ^16.0 ^16.1 ^16.2 ^16.3 ^16.4 ^16.5 Kitatani, K et al. (2009) Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. J. Biol. Chem. 284 12979-88 PubMed GONUTS page
↑ ^17.0 ^17.1 ^17.2 ^17.3 Kitatani, K et al. (2009) Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation. J. Biol. Chem. 284 12972-8 PubMed GONUTS page
↑ ^18.0 ^18.1 ^18.2 Reczek, D et al. (2007) LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 131 770-83 PubMed GONUTS page
↑ Schröder, B et al. (2007) Integral and associated lysosomal membrane proteins. Traffic 8 1676-86 PubMed GONUTS page
↑ ^20.0 ^20.1 ^20.2 ^20.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Gegg, ME & Schapira, AH (2016) Mitochondrial dysfunction associated with glucocerebrosidase deficiency. Neurobiol. Dis. 90 43-50 PubMed GONUTS page

[PMID:19577566-1] Aureli, M et al. (2009) Activity of plasma membrane beta-galactosidase and beta-glucosidase. FEBS Lett. 583 2469-73 PubMed GONUTS page

[PMID:16293621-2] 2.0 ^2.1 Liou, B et al. (2006) Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J. Biol. Chem. 281 4242-53 PubMed GONUTS page

[PMID:26724485-3] 3.0 ^3.1 ^3.2 ^3.3 Marques, AR et al. (2016) Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases. J. Lipid Res. 57 451-63 PubMed GONUTS page

[PMID:24211208-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 Akiyama, H et al. (2013) Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1. Biochem. Biophys. Res. Commun. 441 838-43 PubMed GONUTS page

[PMID:9201993-5] 5.0 ^5.1 Vaccaro, AM et al. (1997) Effect of saposins A and C on the enzymatic hydrolysis of liposomal glucosylceramide. J. Biol. Chem. 272 16862-7 PubMed GONUTS page

[PMID:15916907-6] Ron, I et al. () Use of fluorescent substrates for characterization of Gaucher disease mutations. Blood Cells Mol. Dis. 35 57-65 PubMed GONUTS page

[PMID:17187079-7] Lieberman, RL et al. (2007) Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat. Chem. Biol. 3 101-7 PubMed GONUTS page

[PMID:24022302-8] Malini, E et al. (2014) Functional analysis of 11 novel GBA alleles. Eur. J. Hum. Genet. 22 511-6 PubMed GONUTS page

[PMID:25202012-9] 9.0 ^9.1 ^9.2 Liou, B et al. (2014) The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases. J. Biol. Chem. 289 30063-74 PubMed GONUTS page

[PMID:27378698-10] 10.0 ^10.1 ^10.2 Magalhaes, J et al. (2016) Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease. Hum. Mol. Genet. 25 3432-3445 PubMed GONUTS page

[PMID:26392287-11] 11.0 ^11.1 ^11.2 ^11.3 ^11.4 Rocha, EM et al. (2015) Glucocerebrosidase gene therapy prevents α-synucleinopathy of midbrain dopamine neurons. Neurobiol. Dis. 82 495-503 PubMed GONUTS page

[PMID:25456120-12] 12.0 ^12.1 ^12.2 ^12.3 ^12.4 ^12.5 Woodard, CM et al. (2014) iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease. Cell Rep 9 1173-82 PubMed GONUTS page

[PMID:23580063-13] Dermentzaki, G et al. (2013) Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. PLoS ONE 8 e60674 PubMed GONUTS page

[PMID:21700325-14] 14.0 ^14.1 ^14.2 Mazzulli, JR et al. (2011) Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146 37-52 PubMed GONUTS page

[PMID:23533145-15] Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page

[PMID:19279008-16] 16.0 ^16.1 ^16.2 ^16.3 ^16.4 ^16.5 Kitatani, K et al. (2009) Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. J. Biol. Chem. 284 12979-88 PubMed GONUTS page

[PMID:19279011-17] 17.0 ^17.1 ^17.2 ^17.3 Kitatani, K et al. (2009) Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation. J. Biol. Chem. 284 12972-8 PubMed GONUTS page

[PMID:18022370-18] 18.0 ^18.1 ^18.2 Reczek, D et al. (2007) LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 131 770-83 PubMed GONUTS page

[PMID:17897319-19] Schröder, B et al. (2007) Integral and associated lysosomal membrane proteins. Traffic 8 1676-86 PubMed GONUTS page

[PMID:21873635-20] 20.0 ^20.1 ^20.2 ^20.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:26388395-21] Gegg, ME & Schapira, AH (2016) Mitochondrial dysfunction associated with glucocerebrosidase deficiency. Neurobiol. Dis. 90 43-50 PubMed GONUTS page

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