Gba1 glucosylceramidase beta 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gba1provided by MGI
Official Full Name: glucosylceramidase beta 1provided by MGI
Primary source: MGI:MGI:95665
See related: Ensembl:ENSMUSG00000028048 AllianceGenome:MGI:95665
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GC; Gba; GLUC; GCase; betaGC
Summary: Enables glucosyltransferase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; and signaling receptor binding activity. Involved in several processes, including glucosylceramide catabolic process; lipid glycosylation; and regulation of TOR signaling. Acts upstream of or within with a positive effect on hematopoietic stem cell proliferation. Acts upstream of or within several processes, including macroautophagy; nervous system development; and positive regulation of catabolic process. 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 GBA1 (glucosylceramidase beta 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in genital fat pad adult (RPKM 35.3), subcutaneous fat pad adult (RPKM 29.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 39.01 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (89110235..89119944)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (89202905..89208873)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency.
Title: DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency.
GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice.
Title: GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice.
Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity.
Title: Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity.
The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models.
Title: The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models.
Heterozygous GBA D409V and ATP13a2 mutations do not exacerbate pathological alpha-synuclein spread in the prodromal preformed fibrils model in young mice.
Title: Heterozygous GBA D409V and ATP13a2 mutations do not exacerbate pathological α-synuclein spread in the prodromal preformed fibrils model in young mice.
Wild-type GBA1 increases the alpha-synuclein tetramer-monomer ratio, reduces lipid-rich aggregates, and attenuates motor and cognitive deficits in mice.
Title: Wild-type GBA1 increases the α-synuclein tetramer-monomer ratio, reduces lipid-rich aggregates, and attenuates motor and cognitive deficits in mice.
Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Title: Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity.
Title: Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity.
Glucocerebrosidase deficiency promotes release of alpha-synuclein fibrils from cultured neurons.
Title: Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons.
Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease.
Title: Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (12)
Targeted (20) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gba (e-PCR), detects polymorphism
- UniSTS:143180

Gba (e-PCR), detects polymorphism
- UniSTS:508006

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-glucosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-glucosidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables galactosylceramidase activity	IEA Inferred from Electronic Annotation more info
enables glucosylceramidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucosylceramidase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucosylceramidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glucosylceramidase activity	ISO Inferred from Sequence Orthology more info
enables glucosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables scavenger receptor binding	IEA Inferred from Electronic Annotation more info
enables scavenger receptor binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables steryl-beta-glucosidase activity	ISO Inferred from Sequence Orthology more info
enables steryl-beta-glucosidase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within T cell differentiation in thymus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T-helper 2 cell cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within antigen processing and presentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	ISO Inferred from Sequence Orthology more info
involved_in autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in beta-glucoside catabolic process	IEA Inferred from Electronic Annotation more info
involved_in beta-glucoside catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within brain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebellar Purkinje cell layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of skin barrier	IEA Inferred from Electronic Annotation more info
involved_in establishment of skin barrier	ISO Inferred from Sequence Orthology more info
involved_in glucosylceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucosylceramide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glucosylceramide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucosylceramide catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glucosylceramide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect hematopoietic stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid glycosylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid storage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymphocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in lysosome organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within microglia differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microglial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of MAP kinase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-6 production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuronal action potential	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuronal action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein lipidation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein lipidation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein-containing complex disassembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein-containing complex disassembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of proteolysis involved in protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of type 2 mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pyramidal neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in regulation of TOR signaling	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to dexamethasone	IEA Inferred from Electronic Annotation more info
involved_in response to dexamethasone	ISO Inferred from Sequence Orthology more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	ISO Inferred from Sequence Orthology more info
involved_in response to pH	IEA Inferred from Electronic Annotation more info
involved_in response to pH	ISO Inferred from Sequence Orthology more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	ISO Inferred from Sequence Orthology more info
involved_in response to thyroid hormone	IEA Inferred from Electronic Annotation more info
involved_in response to thyroid hormone	ISO Inferred from Sequence Orthology more info
involved_in skin epidermis development	ISO Inferred from Sequence Orthology more info
involved_in sphingosine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in sphingosine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in termination of signal transduction	IEA Inferred from Electronic Annotation more info
involved_in termination of signal transduction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal lumen	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lysosomal acid glucosylceramidase

Names: D-glucosyl-N-acylsphingosine glucohydrolase; SGTase; acid beta glucosidase; beta-glucocerebrosidase; cholesterol glucosyltransferase; cholesteryl-beta-glucosidase; glucocerebrosidase; glucosidase, beta, acid; glucosylceramidase; lysosomal acid GCase; lysosomal cholesterol glycosyltransferase; lysosomal galactosylceramidase; lysosomal glycosylceramidase

NP_001070879.1

EC 3.2.1.45

EC 3.2.1.46

NP_001396887.1

EC 3.2.1.45

EC 3.2.1.46

NP_001396888.1

EC 3.2.1.45

EC 3.2.1.46

NP_001396889.1

EC 3.2.1.45

EC 3.2.1.46

NP_001396890.1

EC 3.2.1.45

EC 3.2.1.46

NP_001396891.1

EC 3.2.1.45

EC 3.2.1.46

NP_032120.1

EC 3.2.1.45

EC 3.2.1.46

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001077411.4 → NP_001070879.1 lysosomal acid glucosylceramidase isoform 1 precursor

See identical proteins and their annotated locations for NP_001070879.1

Status: VALIDATED

Source sequence(s)

AC161600

Consensus CDS

CCDS17493.1

UniProtKB/Swiss-Prot

P17439, Q78NR7

Related

ENSMUSP00000076589.5, ENSMUST00000077367.11

Conserved Domains (1) summary

cl23815
Location:20 → 512

Glyco_hydro_30; O-Glycosyl hydrolase family 30
NM_001409958.1 → NP_001396887.1 lysosomal acid glucosylceramidase isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC161600

UniProtKB/Swiss-Prot

P17439, Q78NR7
NM_001409959.1 → NP_001396888.1 lysosomal acid glucosylceramidase isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC161600

UniProtKB/Swiss-Prot

P17439, Q78NR7
NM_001409960.1 → NP_001396889.1 lysosomal acid glucosylceramidase isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC161600
NM_001409961.1 → NP_001396890.1 lysosomal acid glucosylceramidase isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC161600
NM_001409962.1 → NP_001396891.1 lysosomal acid glucosylceramidase isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC161600
NM_008094.7 → NP_032120.1 lysosomal acid glucosylceramidase isoform 1 precursor

See identical proteins and their annotated locations for NP_032120.1

Status: VALIDATED

Source sequence(s)

AC161600

Consensus CDS

CCDS17493.1

UniProtKB/Swiss-Prot

P17439, Q78NR7

Related

ENSMUSP00000130660.2, ENSMUST00000167998.2

Conserved Domains (1) summary

cl23815
Location:20 → 512

Glyco_hydro_30; O-Glycosyl hydrolase family 30