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

Gene ID: 12091, updated on 2-Nov-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.
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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

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