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

    Gene ID: 14466, updated on 9-Dec-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; 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, Dec 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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 (12) 
    • 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 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

    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)