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Gba - glucosidase, beta, acid Gene

Also Known as GC; GBA1; GLUC; GCase; betaGC

Species: Mus musculus

Gene Type: protein coding

Gene ID: 14466

Summary

Enables glucosyltransferase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; and signaling receptor binding activity. Involved in several processes, including glucosylceramide catabolic process; regulation of cellular protein metabolic process; and vacuole organization. Acts upstream of or within with a positive effect on hematopoietic stem cell proliferation. Acts upstream of or within several processes, including glucosylceramide metabolic process; mitophagy; and nervous system development. Located in several cellular components, including endoplasmic reticulum; lysosome; and trans-Golgi network. Is expressed in several structures, including alimentary system; central nervous system; integumental system; reproductive system; and sensory organ. Used to study Gaucher's disease; Gaucher's disease type I; and Gaucher's disease type II. Human ortholog(s) of this gene implicated in Gaucher's disease (multiple); Lewy body dementia; Parkinson's disease (multiple); and Parkinsonism. Orthologous to human GBA (glucosylceramidase beta). [provided by Alliance of Genome Resources, Apr 2022]

Gba Products (7)

mRNA	Protein	Name
NM_001077411.4	NP_001070879.1	lysosomal acid glucosylceramidase isoform 1 precursor
NM_001409958.1	NP_001396887.1	lysosomal acid glucosylceramidase isoform 1 precursor
NM_001409959.1	NP_001396888.1	lysosomal acid glucosylceramidase isoform 1 precursor
NM_001409960.1	NP_001396889.1	lysosomal acid glucosylceramidase isoform 2 precursor
NM_001409961.1	NP_001396890.1	lysosomal acid glucosylceramidase isoform 2 precursor
NM_001409962.1	NP_001396891.1	lysosomal acid glucosylceramidase isoform 2 precursor
NM_008094.7	NP_032120.1	lysosomal acid glucosylceramidase isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables beta-glucosidase activity	IDA IDA: Inferred from direct assay	22659419	MGI
enables beta-glucosidase activity	IMP IMP: Inferred from mutant phenotype	22659419	MGI
enables glucosylceramidase activity	IDA IDA: Inferred from direct assay	22659419	MGI
enables glucosylceramidase activity	IMP IMP: Inferred from mutant phenotype	21700325	MGI
enables glucosyltransferase activity	IDA IDA: Inferred from direct assay	24211208	MGI
enables hydrolase activity	IDA IDA: Inferred from direct assay	19710420	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	27789271	MGI
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	18022370	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within T cell differentiation in thymus	IMP IMP: Inferred from mutant phenotype	22665763	MGI
acts upstream of or within T-helper 2 cell cytokine production	IMP IMP: Inferred from mutant phenotype	22665763	MGI
acts upstream of or within antigen processing and presentation	IMP IMP: Inferred from mutant phenotype	22665763	MGI
acts upstream of or within autophagosome organization	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within autophagy	IMP IMP: Inferred from mutant phenotype	23707074	MGI
involved in autophagy	IMP IMP: Inferred from mutant phenotype	27378698	MGI
acts upstream of or within brain morphogenesis	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within cell maturation	IMP IMP: Inferred from mutant phenotype	22665763	MGI
involved in cellular response to starvation	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within central nervous system development	IMP IMP: Inferred from mutant phenotype	18346921	MGI
acts upstream of or within cerebellar Purkinje cell layer formation	IMP IMP: Inferred from mutant phenotype	17954912	MGI
involved in cholesterol metabolic process	IDA IDA: Inferred from direct assay	24211208	MGI
acts upstream of or within determination of adult lifespan	IMP IMP: Inferred from mutant phenotype	18346921	MGI
involved in glucosylceramide catabolic process	IDA IDA: Inferred from direct assay	24211208	MGI
involved in glucosylceramide catabolic process	IMP IMP: Inferred from mutant phenotype	21700325	MGI
acts upstream of or within glucosylceramide metabolic process	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within positive effect hematopoietic stem cell proliferation	IMP IMP: Inferred from mutant phenotype	22665763	MGI
acts upstream of or within homeostasis of number of cells	IMP IMP: Inferred from mutant phenotype	17954912	MGI
involved in lipid glycosylation	IDA IDA: Inferred from direct assay	24211208	MGI
acts upstream of or within lipid storage	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within lymphocyte migration	IMP IMP: Inferred from mutant phenotype	22665763	MGI
involved in lysosome organization	IMP IMP: Inferred from mutant phenotype	27378698	MGI
acts upstream of or within microglia differentiation	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within microglial cell proliferation	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within mitochondrion organization	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within mitophagy	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within motor behavior	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within negative regulation of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within negative regulation of protein metabolic process	IMP IMP: Inferred from mutant phenotype	24388731	MGI
acts upstream of or within negative regulation of protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within nervous system process	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within neuromuscular process	IMP IMP: Inferred from mutant phenotype	18346921	MGI
acts upstream of or within neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	17954912	MGI
acts upstream of or within positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within positive regulation of proteolysis involved in protein catabolic process	IMP IMP: Inferred from mutant phenotype	21700325	MGI
acts upstream of or within positive regulation of type 2 mitophagy	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within pyramidal neuron differentiation	IMP IMP: Inferred from mutant phenotype	17954912	MGI
involved in regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	27378698	MGI
acts upstream of or within regulation of membrane potential	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within regulation of protein metabolic process	IMP IMP: Inferred from mutant phenotype	23707074	MGI
acts upstream of or within respiratory electron transport chain	IMP IMP: Inferred from mutant phenotype	23707074	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	27789271	MGI
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	27789271	MGI
located in extracellular space	IDA IDA: Inferred from direct assay	19710420	MGI
located in lysosomal lumen	IDA IDA: Inferred from direct assay	18022370	MGI
located in lysosomal membrane	IDA IDA: Inferred from direct assay	18022370	MGI
located in lysosome	IDA IDA: Inferred from direct assay	27789271	MGI
located in trans-Golgi network	IDA IDA: Inferred from direct assay	27789271	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
lysosomal acid glucosylceramidase	D-glucosyl-N-acylsphingosine glucohydrolase SGTase acid beta glucosidase beta-glucocerebrosidase cholesterol glucosyltransferase cholesteryl-beta-glucosidase glucocerebrosidase glucosylceramidase lysosomal acid GCase lysosomal cholesterol glycosy

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-16743	Ibiglustat		99.86%	Phase 3

Pre-clinical Phase

Bioactive Molecules (23)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101399	γ-Glu-Phe		99.73%	Unkown
HY-170035	GlcCer (d18:1/18:0)	Activator	99.93%	Unkown
HY-129411	Sinbaglustat		99.83%	Unkown
HY-16743A	Ibiglustat (L-Malic acid)		98.65%	Yes
HY-174311	GT-02216	Activator	98.91%	Unkown
HY-16743B	Ibiglustat succinate		99.71%	Yes
HY-101399R	γ-Glu-Phe (Standard)		99.81%	Unkown
HY-101399A	γ-Glu-Phe TFA		99.50%	Unkown
HY-101399S	γ-Glu-(Phe-13C9,15N)		/	Unkown
HY-101399SA	γ-Glu-(Phe-13C9,15N) TFA		99.74%	Unkown
HY-131570	JZ-4109	Modulator	/	Unkown
HY-155410	HPSE1-IN-1		/	Unkown
HY-155411	HPSE1-IN-2		/	Unkown
HY-16743C	Ibiglustat hydrochloride		/	Unkown
HY-178202	5-C-phenethyl-DNJ	Inhibitor	/	Unkown
HY-RS05301	GBA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05302	GBA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05303	GBA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18361	Gba2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20738	Gba1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24840	Gba2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27249	Gba1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27250	Gba3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown