Glucocerebrosidase

GBA
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1OGS, 1Y7V, 2F61, 2J25, 2NSX, 2NT0, 2NT1, 2V3D, 2V3E, 2V3F, 2VT0, 2WCG, 2WKL, 2XWD, 2XWE, 3GXD, 3GXF, 3GXI, 3GXM, 3KE0, 3KEH, 3RIK, 3RIL
Identifiers
Aliases	GBA, GBA1, GCB, GLUC, glucosylceramidase beta, Glucocerebrosidase
External IDs	OMIM: 606463 MGI: 95665 HomoloGene: 68040 GeneCards: GBA
Gene location (Human)
Chr.	Chromosome 1 (human)
End	155,244,699 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	89,116,273 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; islet of Langerhans; ; placenta; ; blood; ; pituitary gland; ; anterior pituitary; ; bone marrow cells; ; right adrenal gland; ; left adrenal gland; ; rectum;
	Top expressed in
	esophagus; ; internal carotid artery; ; external carotid artery; ; lip; ; superior surface of tongue; ; fossa; ; motor neuron; ; molar; ; calvaria; ; condyle;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	hydrolase activity, acting on glycosyl bonds; protein binding; hydrolase activity; signaling receptor binding; glucosylceramidase activity;
Cellular component	membrane; lysosome; extracellular exosome; lysosomal lumen; lysosomal membrane; extracellular space;
Biological process	termination of signal transduction; skin morphogenesis; glycosphingolipid metabolic process; positive regulation of protein dephosphorylation; lipid metabolism; response to testosterone; cellular response to starvation; negative regulation of interleukin-6 production; response to thyroid hormone; ceramide biosynthetic process; cellular response to tumor necrosis factor; sphingosine biosynthetic process; positive regulation of proteolysis involved in cellular protein catabolic process; regulation of water loss via skin; response to estrogen; glucosylceramide catabolic process; negative regulation of MAP kinase activity; response to pH; metabolism; negative regulation of inflammatory response; regulation of macroautophagy; sphingolipid metabolic process; mitochondrion organization; neuron projection development; regulation of cellular protein metabolic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of protein homooligomerization; cell death in response to oxidative stress; positive regulation of protein-containing complex disassembly; regulation of protein metabolic process; negative regulation of neuron death; positive regulation of protein lipidation; positive regulation of neuronal action potential; positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization; autophagosome organization; regulation of lysosomal protein catabolic process; beta-glucoside catabolic process; response to dexamethasone;
	Sources:Amigo / QuickGO
Orthologs
	2629
	14466
	ENSG00000262446; ENSG00000177628
	ENSMUSG00000028048
	P04062
	P17439
NM_000157; NM_001005741; NM_001005742; NM_001005749; NM_001005750;
	NM_001171811; NM_001171812
	NM_001077411; NM_008094
	NP_000148; NP_001005741; NP_001005742; NP_001165282; NP_001165283
	NP_001070879; NP_032120
	Wikidata
View/Edit Human	View/Edit Mouse

β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). It is localized in the lysosome, where it remains associated with the lysosomal membrane. β-Glucocerebrosidase is 497 amino acids in length and has a molecular mass of 59,700 Da.

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