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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
Chr9:114401076-114474376 bp, + strand
From Ensembl annotation of GRCm38

  73301 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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GLB1
Protein SuperFamily: B-gal
Gene Tree: Glb1

Human
homologs
GLB1, galactosidase, beta 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2720
neXtProt AC: NX_P16278

Human Synonyms: EBP, ELNR1, MPS4B

Human Chr (Location): 3p21.33; chr3:32996608-33097202 (-)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human GLB1

Mutations,
alleles, and
phenotypes
All mutations/alleles(33) : Gene trapped(29) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Glb1 (2)    Mutations Annotated to Human Diseases (2)   
Interactions
Glb1 interacts with 58 markers (Mir19a, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process carbohydrate metabolic process, cellular carbohydrate metabolic process, ...
Component cytoplasm, extracellular exosome, ...
Function beta-galactosidase activity, galactoside binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (101)    Tissues (100)    Images (10)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
RT-PCR 7
cDNA source data(12)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase glb1 ; ZFIN glb1    NEW 
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 Phenotyping Consortium Status Glb1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000045594 Ensembl Gene Model | MGI Sequence Detail 73301 C57BL/6J ±  kb
transcript ENSMUST00000063042 Ensembl | MGI Sequence Detail 2395 Not Applicable 
polypeptide ENSMUSP00000055803 Ensembl | MGI Sequence Detail 647 Not Applicable 

For the selected sequences
All sequences(48) RefSeq(4) UniProt(4)
Polymorphisms
SNPs within 2kb(438 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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 1
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:221872 Akgoc Z, et al., Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses. J Lipid Res. 2015 May;56(5):1006-13
All references(107)
Disease annotation references (4)
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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory