U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 12091, updated on 26-Sep-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Glb1 in Genome Data Viewer
Location:
9 F3; 9 64.4 cM
Exon count:
16
Annotation release Status Assembly Chr Location
109 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 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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables beta-galactosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, hydrolyzing O-glycosyl compounds 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 IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular carbohydrate metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in galactose catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
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 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
is_active_in 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)

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_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
    ENSMUSP00000055803.10, ENSMUST00000063042.11
    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
    ENSMUST00000217583.2
  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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)