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

    Gene ID: 12091, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Glb1provided by MGI
    Official Full Name
    galactosidase, beta 1provided by MGI
    Primary source
    MGI:MGI:88151
    See related
    Ensembl:ENSMUSG00000045594 AllianceGenome:MGI:88151
    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; 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
    human all
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    Genomic context

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    See Glb1 in Genome Data Viewer
    Location:
    9 F3; 9 64.4 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (114230146..114303447)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (114401078..114474379)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930525D18 gene Neighboring gene RIKEN cDNA 4930520O04 gene Neighboring gene STARR-seq mESC enhancer starr_25345 Neighboring gene STARR-seq mESC enhancer starr_25346 Neighboring gene cartilage associated protein Neighboring gene STARR-positive B cell enhancer ABC_E5109 Neighboring gene STARR-positive B cell enhancer mm9_chr9:114327339-114327639 Neighboring gene transmembrane protein with metallophosphoesterase domain Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:114345054-114345237 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:114352487-114352773 Neighboring gene predicted gene, 30254 Neighboring gene STARR-seq mESC enhancer starr_25350 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:114419096-114419279 Neighboring gene C-C motif chemokine receptor 4 Neighboring gene tripartite motif-containing 71 Neighboring gene STARR-seq mESC enhancer starr_25364 Neighboring gene STARR-seq mESC enhancer starr_25369 Neighboring gene STARR-seq mESC enhancer starr_25371

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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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    Related articles in PubMed

    1. Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis. Matsuda J, et al. Glycoconj J, 1997 Sep. PMID 9337086
    2. Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain. Arthur JR, et al. J Lipid Res, 2011 Jul. PMID 21508255, Free PMC Article
    3. GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. Sano R, et al. Mol Cell, 2009 Nov 13. PMID 19917257, Free PMC Article
    4. Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. Elliot-Smith E, et al. Mol Genet Metab, 2008 Jun. PMID 18387328
    5. Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Takamura A, et al. Biochem Biophys Res Commun, 2008 Mar 14. PMID 18190792

    See all (114) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Increased Galactosidase Beta 1 Expression as a Senescent Key Factor in beta-Cells Function Modulation at the Early Steps of Type 2 Diabetes.
      Title: Increased Galactosidase Beta 1 Expression as a Senescent Key Factor in β-Cells Function Modulation at the Early Steps of Type 2 Diabetes.
    2. Endogenous pH 6.0 beta-Galactosidase Activity Is Linked to Neuronal Differentiation in the Olfactory Epithelium.
      Title: Endogenous pH 6.0 β-Galactosidase Activity Is Linked to Neuronal Differentiation in the Olfactory Epithelium.
    3. Increased cellular senescence in the murine and human stenotic kidney: Effect of mesenchymal stem cells.
      Title: Increased cellular senescence in the murine and human stenotic kidney: Effect of mesenchymal stem cells.
    4. A significant proportion of p16Ink4a/senescence-associated beta-galactosidase-positive cells accumulating in aging mice are macrophages that acquired this phenotype as part of their physiological reprogramming towards an M2-like phenotype.
      Title: p16(Ink4a) and senescence-associated β-galactosidase can be induced in macrophages as part of a reversible response to physiological stimuli.
    5. Senescence-associated-beta-gal activity in neurons cannot be attributed uniquely to cell senescence either in vitro or in vivo.
      Title: Is senescence-associated β-galactosidase a marker of neuronal senescence?
    6. beta-gal is present in the pro-urine from where it is thought to stimulate TRPV5 activity.
      Title: Urinary β-galactosidase stimulates Ca2+ transport by stabilizing TRPV5 at the plasma membrane.
    7. This study shows that moderate widespread expression of betagal in the CNS of GM1 gangliosidosis mice is sufficient to achieve significant biochemical impact with phenotypic amelioration and extension in lifespan
      Title: Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan.
    8. Senescence-associated beta-galactosidase is present in apical vacuoles of visceral endoderm in developing mouse embryos.
      Title: Senescence-associated β-galactosidase activity marks the visceral endoderm of mouse embryos but is not indicative of senescence.
    9. We show here that mouse GLB1 has greater stability when compared to human GLB1, and that human GLB1 activity is temperature and protective-dependent on protein cathepsin A, while that of mouse GLB1 is not
      Title: Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A.
    10. This protein was used as a biological marker of cell lineage, cell differentiation, and cell movement in the mouse cerebellum.
      Title: Progressive restriction of cell fates in relation to neuroepithelial cell mingling in the mouse cerebellum.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables beta-galactosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-galactosidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables beta-galactosidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables beta-galactosidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables galactoside binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables galactoside binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in galactose catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in galactose catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in galactose catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to Thyroglobulin triiodothyronine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cortisone IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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)

    1. NM_009752.2 → NP_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, Q8K131
      Related
      ENSMUSP00000055803.10, ENSMUST00000063042.11
      Conserved Domains (2) summary
      pfam01301
      Location:41 → 355
      Glyco_hydro_35; Glycosyl hydrolases family 35
      pfam13364
      Location:553 → 621
      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
      ENSMUST00000217583.2

    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: 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_000075.7 Reference GRCm39 C57BL/6J

      Range
      114230146..114303447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23780.1 GenPept UniProtKB/Swiss-Prot:P23780

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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