HUMAN:GLCM

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Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	GBA ( synonyms: GC, GLUC )
Protein Name(s)	Glucosylceramidase Acid beta-glucosidase Alglucerase Beta-glucocerebrosidase D-glucosyl-N-acylsphingosine glucohydrolase Imiglucerase
External Links
UniProt Identifier	GLCM_HUMAN
UniProt Accessions	P04062, A8K796, Q16545, Q4VX22, Q6I9R6, Q9UMJ8,
EMBL	M16328, K02920, J03059, D13286, D13287, AF023268, AK291911, AL713999, BC003356, M19285, M18916, M18917, M20248, M20282,
PIR	A94068, I52980, I67792,
RefSeq	NP_000148.2, NP_001005741.1, NP_001005742.1,
PDB	1OGS, 1Y7V, 2F61, 2J25, 2NSX, 2NT0, 2NT1, 2V3D, 2V3E, 2V3F, 2VT0, 2WCG, 2WKL, 3GXD, 3GXF, 3GXI, 3GXM, 3KE0, 3KEH,
IntAct	P04062,
Ensembl	ENST00000327247, ENST00000368373, ENST00000402928, ENST00000427500, ENST00000428024,
Pfam	PF02055,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes	Status
	GO:0004348	glucosylceramidase activity	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:3.2.1.45	F
	GO:0016798	hydrolase activity, acting on glycosyl bonds	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0326	F
	GO:0006665	sphingolipid metabolic process	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0746	P
	GO:0005975	carbohydrate metabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013781	P
	GO:0004348	glucosylceramidase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001139	F
	GO:0007040	lysosome organization	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001139	P
	GO:0005764	lysosome	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0458	C
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0006665	sphingolipid metabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001139	P
	GO:0003824	catalytic activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013781	F
	GO:0006629	lipid metabolic process	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0443	P
	GO:0005515	protein binding	PMID:18022370^[1]	IPI: Inferred from Physical Interaction	UniProtKB:O35114	F
	GO:0003824	catalytic activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013780	F
	GO:0005975	carbohydrate metabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013780	P
	GO:0043169	cation binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013781	F
	GO:0005765	lysosomal membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0157	C
	GO:0005764	lysosome	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001139	C
	GO:0008152	metabolic process	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0326	P
	GO:0008219	cell death	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0523	P
	GO:0016787	hydrolase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0378	F
	GO:0005886	plasma membrane	PMID:19577566^[2]	IDA: Inferred from Direct Assay		C	Fig 3	complete
	GO:0043169	cation binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013780	F
	GO:0003824	catalytic activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013780	F
	GO:0003824	catalytic activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013781	F
	GO:0004348	glucosylceramidase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001139	F
	GO:0004348	glucosylceramidase activity	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:3.2.1.45	F
	GO:0004348	glucosylceramidase activity	PMID:19279011^[3]	IDA: Inferred from Direct Assay		F
	GO:0005102	receptor binding	PMID:18022370^[1]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P17439	F
	GO:0005515	protein binding	PMID:18022370^[1]	IPI: Inferred from Physical Interaction	UniProtKB:O35114	F
	GO:0005764	lysosome	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001139	C
	GO:0005764	lysosome	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0458	C
	GO:0005765	lysosomal membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0157	C
	GO:0005765	lysosomal membrane	PMID:18022370^[1]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P17439	C
	GO:0005975	carbohydrate metabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013780	P
	GO:0005975	carbohydrate metabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013781	P
	GO:0006629	lipid metabolic process	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0443	P
	GO:0006665	sphingolipid metabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001139	P
	GO:0006665	sphingolipid metabolic process	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0746	P
	GO:0006680	glucosylceramide catabolic process	PMID:19279011^[3]	IMP: Inferred from Mutant Phenotype		P
	GO:0007040	lysosome organization	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001139	P
	GO:0008152	metabolic process	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0326	P
	GO:0008219	cell death	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0523	P
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0016787	hydrolase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0378	F
	GO:0016798	hydrolase activity, acting on glycosyl bonds	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0326	F
	GO:0023021	termination of signal transduction	PMID:19279008^[4]	IMP: Inferred from Mutant Phenotype		P
	GO:0032715	negative regulation of interleukin-6 production	PMID:19279008^[4]	IDA: Inferred from Direct Assay		P
	GO:0035307	positive regulation of protein dephosphorylation	PMID:19279008^[4]	IMP: Inferred from Mutant Phenotype		P
	GO:0043169	cation binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013780	F
	GO:0043169	cation binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR013781	F
	GO:0043202	lysosomal lumen	PMID:18022370^[1]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P17439	C
	GO:0043407	negative regulation of MAP kinase activity	PMID:19279008^[4]	IMP: Inferred from Mutant Phenotype		P
	GO:0046512	sphingosine biosynthetic process	PMID:19279011^[3]	IMP: Inferred from Mutant Phenotype		P
	GO:0046513	ceramide biosynthetic process	PMID:19279011^[3]	IMP: Inferred from Mutant Phenotype		P
	GO:0050728	negative regulation of inflammatory response	PMID:19279008^[4]	IC: Inferred by Curator	GO:0032715	P
	GO:0071356	cellular response to tumor necrosis factor	PMID:19279008^[4]	IMP: Inferred from Mutant Phenotype		P
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Notes

References

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

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 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
↑ Aureli M et al. (2009) Activity of plasma membrane beta-galactosidase and beta-glucosidase. FEBS Lett 583: 2469-73 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 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
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 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:18022370-0] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 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: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:19279011-2] 3.0 ^3.1 ^3.2 ^3.3 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:19279008-3] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 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

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HUMAN:GLCM

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