Version 5.4
| Mus musculus Gene: Galns | |||||||||||
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| Summary | |||||||||||
| InnateDB Gene | IDBG-197753.6 | ||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
| Gene Symbol | Galns | ||||||||||
| Gene Name | galactosamine (N-acetyl)-6-sulfate sulfatase | ||||||||||
| Synonyms | mFLJ00319 | ||||||||||
| Species | Mus musculus | ||||||||||
| Ensembl Gene | ENSMUSG00000015027 | ||||||||||
| Encoded Proteins |
galactosamine (N-acetyl)-6-sulfate sulfatase
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
| Entrez Gene | |||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000141012:
This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||||
| Type | Protein coding | ||||||||||
| Genomic Location | Chromosome 8:122578238-122611487 | ||||||||||
| Strand | Reverse strand | ||||||||||
| Band | E1 | ||||||||||
| Transcripts |
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| Interactions | |||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 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
Keratan sulfate degradation pathway
MPS IV - Morquio syndrome B pathway
MPS IV - Morquio syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Diseases of glycosylation pathway
Defective CHSY1 causes TPBS pathway
Defective B3GAT3 causes JDSSDHD pathway
MPS II - Hunter syndrome pathway
Diseases associated with glycosaminoglycan 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
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
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| KEGG |
Glycosaminoglycan degradation pathway
Lysosome pathway
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| INOH | |||||||||||
| PID NCI | |||||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||||
| NETPATH | |||||||||||
| REACTOME |
Keratan sulfate degradation pathway
Mucopolysaccharidoses 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
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type 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 |
Glycosaminoglycan degradation pathway
Lysosome pathway
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| INOH | |||||||||||
| PID NCI | |||||||||||
| Cross-References | |||||||||||
| SwissProt | Q571E4 | ||||||||||
| TrEMBL | |||||||||||
| UniProt Splice Variant | |||||||||||
| Entrez Gene | 50917 | ||||||||||
| UniGene | Mm.34702 | ||||||||||
| RefSeq | NM_001193645 NM_016722 | ||||||||||
| OMIM | |||||||||||
| CCDS | CCDS40504 | ||||||||||
| HPRD | |||||||||||
| IMGT | |||||||||||
| MGI ID | MGI:1355303 | ||||||||||
| MGI Symbol | Galns | ||||||||||
| EMBL | AF111346 AF112230 AF112231 AF112232 AF112233 AF112234 AF112235 AF112236 AF112237 AF112238 AF112239 AF112240 AF112241 AF112242 AK159592 AK220245 BC004002 | ||||||||||
| GenPept | AAF63155 AAF63858 AAH04002 BAD90170 BAE35212 | ||||||||||
| RNA Seq Atlas | 50917 | ||||||||||