Version 5.4
| Bos taurus Gene: IDS | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||
| InnateDB Gene | IDBG-631731.3 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | IDS | ||||||||
| Gene Name | iduronate 2-sulfatase precursor | ||||||||
| Synonyms | |||||||||
| Species | Bos taurus | ||||||||
| Ensembl Gene | ENSBTAG00000011056 | ||||||||
| Encoded Proteins |
iduronate 2-sulfatase
|
||||||||
| 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 ENSG00000010404:
Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked Mucopolysaccharidosis Type II, also known as Hunter Syndrome. Iduronate-2-sulfatase has a strong sequence similarity with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2009] The protein encoded by this gene belongs to the sulfatase family, is localized to the lysosome, and is involved in lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease, mucopolysaccharidosis type II, also known as Hunter syndrome. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2013] |
||||||||
| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome X:32309003-32324475 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | |||||||||
| Transcripts |
|
||||||||
| 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 4 interaction(s) predicted by orthology.
|
||||||||
| Gene Ontology | |||||||||
Molecular Function |
|
||||||||
| Biological Process |
|
||||||||
| Cellular Component |
|
||||||||
| Orthologs | |||||||||
|
Species
Homo sapiens
Mus musculus
|
Gene ID
Gene Order
|
||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||
| NETPATH | |||||||||
| REACTOME |
CS/DS degradation pathway
HS-GAG degradation pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 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
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
Chondroitin sulfate/dermatan sulfate metabolism 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
HS-GAG degradation pathway
MPS IV - Morquio syndrome B pathway
MPS IV - Morquio syndrome A pathway
CS/DS degradation pathway
Chondroitin sulfate/dermatan sulfate metabolism 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
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
MPS VI - Maroteaux-Lamy syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) 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
|
||||||||
| KEGG |
Glycosaminoglycan degradation pathway
Lysosome pathway
Glycosaminoglycan degradation pathway
Lysosome pathway
|
||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | F1N2D5 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 541272 | ||||||||
| UniGene | |||||||||
| RefSeq | |||||||||
| HUGO | |||||||||
| OMIM | |||||||||
| CCDS | |||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | DAAA02068060 DAAA02068061 | ||||||||
| GenPept | |||||||||
| RNA Seq Atlas | 541272 | ||||||||