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    Gba glucosidase, beta, acid [ Mus musculus (house mouse) ]

    Gene ID: 14466, updated on 18-Jul-2015
    Official Symbol
    Gbaprovided by MGI
    Official Full Name
    glucosidase, beta, acidprovided by MGI
    Primary source
    MGI:MGI:95665
    See related
    Ensembl:ENSMUSG00000028048; Vega:OTTMUSG00000052631
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GC; GBA1; GLUC; GCase; betaGC
    Orthologs
    Location:
    3 F1; 3 39.01 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    105 current GRCm38.p3 (GCF_000001635.23) 3 NC_000069.6 (89202914..89208966)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (89006850..89012603)

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene secretory carrier membrane protein 3 Neighboring gene predicted gene 16069 Neighboring gene family with sequence similarity 189, member B Neighboring gene metaxin 1 Neighboring gene thrombospondin 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    glucosylceramidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucosylceramidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, acting on glycosyl bonds IEA
    Inferred from Electronic Annotation
    more info
     
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor ISO
    Inferred from Sequence Orthology
    more info
     
    ceramide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    glucosylceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucosylceramide catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of MAP kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of interleukin-6 production ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of proteolysis involved in cellular protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of proteolysis involved in cellular protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of water loss via skin ISO
    Inferred from Sequence Orthology
    more info
     
    response to estrogen ISO
    Inferred from Sequence Orthology
    more info
     
    response to glucocorticoid ISO
    Inferred from Sequence Orthology
    more info
     
    response to pH ISO
    Inferred from Sequence Orthology
    more info
     
    response to testosterone ISO
    Inferred from Sequence Orthology
    more info
     
    response to thyroid hormone ISO
    Inferred from Sequence Orthology
    more info
     
    skin morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    sphingosine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    termination of signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    lysosomal lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    glucosylceramidase
    Names
    D-glucosyl-N-acylsphingosine glucohydrolase
    acid beta glucosidase
    beta-glucocerebrosidase
    glucocerebrosidase
    NP_001070879.1
    NP_032120.1

    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_001077411.2NP_001070879.1  glucosylceramidase precursor

      See identical proteins and their annotated locations for NP_001070879.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the shortest transcript and encodes the functional protein. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC161600, AK082767, BB632015
      Consensus CDS
      CCDS17493.1
      UniProtKB/Swiss-Prot
      P17439
      Related
      ENSMUSP00000076589, OTTMUSP00000070424, ENSMUST00000077367, OTTMUST00000131867
      Conserved Domains (1) summary
      cl22871
      Location:20512
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain
    2. NM_008094.5NP_032120.1  glucosylceramidase precursor

      See identical proteins and their annotated locations for NP_032120.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC161600
      Consensus CDS
      CCDS17493.1
      UniProtKB/Swiss-Prot
      P17439
      Related
      ENSMUSP00000130660, OTTMUSP00000070426, ENSMUST00000167998, OTTMUST00000131869
      Conserved Domains (1) summary
      cl22871
      Location:20512
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

    RNA

    1. NR_122037.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon and uses alternate splice sites in two internal exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC161600

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105

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

    Reference GRCm38.p3 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p3 C57BL/6J

      Range
      89202914..89208966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500997.2XP_006501060.1  

      Conserved Domains (1) summary
      cl22871
      Location:20387
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain
    2. XM_006500998.1XP_006501061.1  

      Conserved Domains (1) summary
      cl22871
      Location:20312
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

    Alternate Mm_Celera

    Genomic

    1. AC_000025.1 Alternate Mm_Celera

      Range
      89236606..89242648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)