Glb1
Gene Detail

Symbol Name ID

Glb1 galactosidase, beta 1 MGI:88151

Synonyms

Bge, Bgl, Bgl-e, Bgl-s, Bgl-t, Bgs, Bgt, C130097A14Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 9

64.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(47)

Sequence Map

Chr9:114401119-114474377 bp, + strand From NCBI annotation of GRCm38   73259 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:47922  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: B-gal
Gene Tree: Glb1

Human homologs

Human Homolog		GLB1, galactosidase, beta 1
NCBI Gene ID		2720
neXtProt AC		NX_P16278
Human Synonyms		EBP, ELNR1, MPS4B
Human Chr (Location)		3p21.33; chr3:33038100-33138694 (-)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human GLB1

Alleles and phenotypes

All alleles(33) : Targeted(4) Gene trapped(29)
 

Homozygotes for a targeted null mutation exhibit progressive spastic diplegia, emaciation, and accumulation of ganglioside GM1 and asialo GM1 in brain tissue. Mutants die at 7-10 months of age.

 
Human Diseases Modeled Using Mouse Glb1 (2)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	carbohydrate metabolic process, galactose catabolic process, ...
Component	lysosome
Function	beta-galactosidase activity, catalytic activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (101)    Tissues (99)    Images (10)
Theiler Stages: 20, 22, 24, 26, 28

Assay Type	Results
RNA in situ	94
RT-PCR	7

cDNA source data(12)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(23) Genomic(4) cDNA(17) Primer pair(2)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000045594 (Evidence)
Entrez Gene	12091 (Evidence)
EC	3.2.1.23
Consensus CDS Project	CCDS23593.1
International Mouse Knockout Project Status	Glb1

Sequences

Length	Strain/Species
genomic	12091	NCBI Gene Model | MGI Sequence Detail	73259	C57BL/6J
transcript	NM_009752	RefSeq | MGI Sequence Detail	2360	C57BL/6
polypeptide	P23780	UniProt | EBI | MGI Sequence Detail	647	Not Applicable

All sequences(45) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(325 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR026283	Beta-galactosidase 1-like
InterPro	IPR008979	Galactose-binding domain-like
InterPro	IPR013781	Glycoside hydrolase, catalytic domain
InterPro	IPR001944	Glycoside hydrolase, family 35
InterPro	IPR019801	Glycoside hydrolase, family 35, conserved site
InterPro	IPR017853	Glycoside hydrolase, superfamily
Protein Ontology	PR:000008016	beta-galactosidase

Graphical View of Protein Domain Structure

References

(Earliest) J:5404 Lundin LG, et al., Mendelian inheritance of variations in beta-galactosidase activities in the house mouse. Biochem Genet. 1973 Dec;10(4):351-61
(Latest) J:181173 Sun JB, et al., B lymphocytes treated in vitro with antigen coupled to cholera toxin B subunit induce antigen-specific Foxp3(+) regulatory T cells and protect against experimental autoimmune encephalomyelitis. J Immunol. 2012 Feb 15;188(4):1686-97
All references(107)

Other accession IDs

MGD-MRK-1545, MGD-MRK-1546, MGD-MRK-1547, MGD-MRK-1548, MGD-MRK-1549, MGD-MRK-1556, MGD-MRK-1557, MGI:2143293, MGI:88152, MGI:88153, MGI:88154