Mus musculus Gene: Glb1
Summary
InnateDB Gene IDBG-203446.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Glb1
Gene Name galactosidase, beta 1
Synonyms AW125515; Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt; C130097A14Rik;
Species Mus musculus
Ensembl Gene ENSMUSG00000045594
Encoded Proteins
galactosidase, beta 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:114401076-114474376
Strand Forward strand
Band F3
Transcripts
ENSMUST00000063042 ENSMUSP00000055803
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004565 beta-galactosidase activity
GO:0005515 protein binding
GO:0016936 galactoside binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0019388 galactose catabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005794 Golgi apparatus
GO:0009341 beta-galactosidase complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Glycosaminoglycan metabolism pathway
Disease pathway
Synthesis of substrates in N-glycan biosythesis pathway
Keratan sulfate degradation pathway
HS-GAG degradation pathway
MPS IV - Morquio syndrome B pathway
MPS IV - Morquio syndrome A pathway
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway
Glycosphingolipid metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
Sphingolipid metabolism pathway
MPS I - Hurler syndrome pathway
Metabolism of proteins pathway
MPS IIID - Sanfilippo syndrome D pathway
Post-translational protein modification pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Diseases of glycosylation pathway
Metabolism of lipids and lipoproteins pathway
Defective CHSY1 causes TPBS pathway
Defective B3GAT3 causes JDSSDHD pathway
MPS II - Hunter syndrome pathway
Diseases associated with glycosaminoglycan metabolism pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IX - Natowicz syndrome pathway
Glycogen storage diseases pathway
MPS VII - Sly syndrome pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Defective CHST3 causes SEDCJD pathway
Asparagine N-linked glycosylation pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Keratan sulfate/keratin metabolism pathway
MPS IIIB - Sanfilippo syndrome B pathway
MPS IIIA - Sanfilippo syndrome A pathway
Defective PAPSS2 causes SEMD-PA pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Mucopolysaccharidoses pathway
Defective CHST6 causes MCDC1 pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Defective EXT2 causes exostoses 2 pathway
Defective SLC26A2 causes chondrodysplasias pathway
Sialic acid metabolism pathway
KEGG
Galactose metabolism pathway
Other glycan degradation pathway
Glycosaminoglycan degradation pathway
Sphingolipid metabolism pathway
Glycosphingolipid biosynthesis pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
TNFalpha pathway
REACTOME
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Mucopolysaccharidoses pathway
HS-GAG degradation pathway
Post-translational protein modification pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Synthesis of substrates in N-glycan biosythesis pathway
Defective SLC26A2 causes chondrodysplasias pathway
Asparagine N-linked glycosylation pathway
Sialic acid metabolism pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Metabolism of proteins pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Keratan sulfate degradation pathway
Glycosphingolipid metabolism pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Galactose metabolism pathway
Other glycan degradation pathway
Glycosaminoglycan degradation pathway
Sphingolipid metabolism pathway
Glycosphingolipid biosynthesis pathway
Lysosome pathway
INOH
Galactose metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P23780
TrEMBL Q3TAW7
UniProt Splice Variant
Entrez Gene 12091
UniGene
RefSeq NM_009752
OMIM
CCDS CCDS23593
HPRD
IMGT
MGI ID MGI:88151
MGI Symbol Glb1
EMBL AK171593 M57734 M75107 M75108 M75109 M75111 M75112 M75113 M75114 M75115 M75116 M75117 M75118 M75119 M75120 M75121 M75122 M75137
GenPept AAA37292 AAA37293 BAE42549
RNA Seq Atlas 12091