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

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: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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?
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.
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.
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.
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.
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)

Targeted (2) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW125515 (e-PCR)
- UniSTS:179986

M57734 (e-PCR)
- UniSTS:179987

Glb1 (e-PCR), detects polymorphism
- UniSTS:508007

PMC307667P1 (e-PCR)
- UniSTS:272587

Glb1 (e-PCR), detects polymorphism
- UniSTS:546793

NoName (e-PCR)
- UniSTS:236270

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	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	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	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

EC 3.2.1.23

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)

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

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
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