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

Gene ID: 14466, updated on 14-May-2024

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; 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]
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
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Genomic context

See Gba1 in Genome Data Viewer
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_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 45927 Neighboring gene secretory carrier membrane protein 3 Neighboring gene predicted gene 16069 Neighboring gene endosomal transmembrane epsin interactor 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:88994426-88994609 Neighboring gene STARR-positive B cell enhancer ABC_E275 Neighboring gene STARR-positive B cell enhancer ABC_E10196 Neighboring gene predicted gene, 23269 Neighboring gene STARR-positive B cell enhancer ABC_E11197 Neighboring gene metaxin 1 Neighboring gene thrombospondin 3 Neighboring gene STARR-seq mESC enhancer starr_08226 Neighboring gene predicted gene, 57704 Neighboring gene microRNA 92b

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (10) 
  • Targeted (20)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 transferase activity IEA
Inferred from Electronic Annotation
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 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 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 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 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 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 metabolic process IEA
Inferred from Electronic Annotation
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
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
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 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 
acts_upstream_of_or_within positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 dephosphorylation ISO
Inferred from Sequence Orthology
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 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 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
 
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in response to estrogen ISO
Inferred from Sequence Orthology
more info
 
involved_in response to pH ISO
Inferred from Sequence Orthology
more info
 
involved_in response to testosterone ISO
Inferred from Sequence Orthology
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
 
acts_upstream_of_or_within sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in sphingosine biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within steroid metabolic process 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 membrane IEA
Inferred from Electronic Annotation
more info
 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_001396887.1
NP_001396888.1
NP_001396889.1
NP_001396890.1
NP_001396891.1
NP_032120.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001077411.4NP_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:20512
    Glyco_hydro_30; O-Glycosyl hydrolase family 30
  2. NM_001409958.1NP_001396887.1  lysosomal acid glucosylceramidase isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC161600
    UniProtKB/Swiss-Prot
    P17439, Q78NR7
  3. NM_001409959.1NP_001396888.1  lysosomal acid glucosylceramidase isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC161600
    UniProtKB/Swiss-Prot
    P17439, Q78NR7
  4. NM_001409960.1NP_001396889.1  lysosomal acid glucosylceramidase isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC161600
  5. NM_001409961.1NP_001396890.1  lysosomal acid glucosylceramidase isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC161600
  6. NM_001409962.1NP_001396891.1  lysosomal acid glucosylceramidase isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC161600
  7. NM_008094.7NP_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:20512
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

RNA

  1. NR_122037.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC161600
  2. NR_176922.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC161600
  3. NR_176923.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC161600
  4. NR_176924.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC161600

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    89110235..89119944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)