Bos taurus Gene: GALNS | |||||||
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Summary | |||||||
InnateDB Gene | IDBG-630576.3 | ||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
Gene Symbol | GALNS | ||||||
Gene Name | N-acetylgalactosamine-6-sulfatase precursor | ||||||
Synonyms | |||||||
Species | Bos taurus | ||||||
Ensembl Gene | ENSBTAG00000004568 | ||||||
Encoded Proteins |
galactosamine (N-acetyl)-6-sulfate sulfatase
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Protein Structure | |||||||
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 18:14061951-14077096 | ||||||
Strand | Reverse strand | ||||||
Band | |||||||
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 | |||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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
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
Glycosaminoglycan degradation pathway
Lysosome pathway
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INOH | |||||||
PID NCI | |||||||
Cross-References | |||||||
SwissProt | |||||||
TrEMBL | |||||||
UniProt Splice Variant | |||||||
Entrez Gene | |||||||
UniGene | Bt.46335 | ||||||
RefSeq | NM_001206329 | ||||||
HUGO | |||||||
OMIM | |||||||
CCDS | |||||||
HPRD | |||||||
IMGT | |||||||
EMBL | |||||||
GenPept | |||||||
RNA Seq Atlas | |||||||