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    Glb1 galactosidase, beta 1 [ Mus musculus (house mouse) ]

    Gene ID: 12091, updated on 16-Apr-2019

    Summary

    Official Symbol
    Glb1provided by MGI
    Official Full Name
    galactosidase, beta 1provided by MGI
    Primary source
    MGI:MGI:88151
    See related
    Ensembl:ENSMUSG00000045594
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Bge; Bgl; Bgs; Bgt; Bgl-e; Bgl-s; Bgl-t; AW125515; C130097A14Rik
    Summary
    This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and other glycoproteins. Mutations in the human gene are associated with GM1-gangliosidosis and Morquio B syndrome. Disruption of the mouse gene mirrors the symptoms of human gangliosidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in kidney adult (RPKM 57.0), genital fat pad adult (RPKM 41.2) and 28 other tissues See more
    Orthologs

    Genomic context

    See Glb1 in Genome Data Viewer
    Location:
    9 F3; 9 64.4 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (114401078..114474379)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (114310237..114383495)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930525D18 gene Neighboring gene RIKEN cDNA 4930520O04 gene Neighboring gene cartilage associated protein Neighboring gene transmembrane protein with metallophosphoesterase domain Neighboring gene predicted gene, 30254 Neighboring gene chemokine (C-C motif) receptor 4 Neighboring gene tripartite motif-containing 71

    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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    beta-galactosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    beta-galactosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-galactosidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    galactoside binding ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrolase activity, acting on glycosyl bonds IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, hydrolyzing O-glycosyl compounds IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular carbohydrate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    galactose catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    beta-galactosidase
    Names
    acid beta-galactosidase
    lactase
    NP_033882.1

    NCBI Reference Sequences (RefSeq)

    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_009752.2NP_033882.1  beta-galactosidase preproprotein

      See identical proteins and their annotated locations for NP_033882.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
      Source sequence(s)
      AC156499, AK153218, AK171593
      Consensus CDS
      CCDS23593.1
      UniProtKB/Swiss-Prot
      P23780
      UniProtKB/TrEMBL
      Q3TAW7
      Related
      ENSMUSP00000055803.9, ENSMUST00000063042.10
      Conserved Domains (2) summary
      pfam01301
      Location:41355
      Glyco_hydro_35; Glycosyl hydrolases family 35
      pfam13364
      Location:553621
      BetaGal_dom4_5; Beta-galactosidase jelly roll domain

    RNA

    1. NR_108101.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC156499
      Related
      ENSMUST00000217583.1
    2. NR_108102.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC156499

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      114401078..114474379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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