Version 5.4
| Mus musculus Gene: Glb1 | |||||||||||||||||||||||
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| 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
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| 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] |
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| Gene Information | |||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||
| Genomic Location | Chromosome 9:114401076-114474376 | ||||||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||||||
| Band | F3 | ||||||||||||||||||||||
| Transcripts |
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| 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.
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| Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| 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
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| KEGG |
Sphingolipid metabolism pathway
Galactose metabolism pathway
Glycosphingolipid biosynthesis pathway
Other glycan degradation pathway
Glycosaminoglycan degradation pathway
Lysosome pathway
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| INOH | |||||||||||||||||||||||
| PID NCI | |||||||||||||||||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||
| NETPATH |
TNFalpha pathway
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| REACTOME |
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway
Asparagine N-linked glycosylation pathway
Glycosphingolipid metabolism pathway
Keratan sulfate degradation pathway
HS-GAG degradation pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Mucopolysaccharidoses 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
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
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism 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
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| KEGG |
Galactose metabolism pathway
Glycosphingolipid biosynthesis pathway
Sphingolipid metabolism pathway
Other glycan degradation pathway
Glycosaminoglycan degradation pathway
Lysosome pathway
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| INOH |
Galactose metabolism pathway
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| PID NCI | |||||||||||||||||||||||
| Cross-References | |||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||
| UniGene | |||||||||||||||||||||||
| RefSeq | NM_009752 | ||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||
| CCDS | CCDS23593 | ||||||||||||||||||||||
| HPRD | |||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||
| MGI ID | |||||||||||||||||||||||
| MGI Symbol | |||||||||||||||||||||||
| EMBL | |||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||||||