Version 5.4
| Homo sapiens Gene: GLB1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-23941.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | GLB1 | ||||||||||||||||||
| Gene Name | galactosidase, beta 1 | ||||||||||||||||||
| Synonyms | EBP; ELNR1; MPS4B | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000170266 | ||||||||||||||||||
| Encoded Proteins |
galactosidase, beta 1
galactosidase, beta 1
galactosidase, beta 1
galactosidase, beta 1
galactosidase, beta 1
galactosidase, beta 1
galactosidase, beta 1
galactosidase, beta 1
galactosidase, beta 1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 3:32996608-33097230 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | p22.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
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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
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| 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 | C9J4G9 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 2720 | ||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_000404 NM_001079811 NM_001135602 | ||||||||||||||||||
| HUGO | HGNC:4298 | ||||||||||||||||||
| OMIM | 611458 | ||||||||||||||||||
| CCDS | CCDS43061 CCDS43062 CCDS46785 | ||||||||||||||||||
| HPRD | 01975 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC112211 | ||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | 2720 | ||||||||||||||||||