Version 5.4
| Bos taurus Gene: BT.20235 | |||||||||||
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| Summary | |||||||||||
| InnateDB Gene | IDBG-634408.3 | ||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
| Gene Symbol | BT.20235 | ||||||||||
| Gene Name | N-acetylglucosamine-6-sulfatase precursor | ||||||||||
| Synonyms | G6S | ||||||||||
| Species | Bos taurus | ||||||||||
| Ensembl Gene | ENSBTAG00000017465 | ||||||||||
| Encoded Proteins |
N-acetylglucosamine-6-sulfatase precursor
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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 ENSG00000135677:
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||||
| Type | Protein coding | ||||||||||
| Genomic Location | Chromosome 5:49283646-49333344 | ||||||||||
| Strand | Forward 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 7 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
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
Lysosome Vesicle Biogenesis pathway
Clathrin derived vesicle budding pathway
Mucopolysaccharidoses pathway
trans-Golgi Network Vesicle Budding 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
Membrane Trafficking pathway
MPS IIIB - Sanfilippo syndrome B pathway
Glycosaminoglycan metabolism pathway
Disease pathway
Keratan sulfate degradation pathway
MPS IV - Morquio syndrome B pathway
Membrane Trafficking pathway
MPS IV - Morquio syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
Lysosome Vesicle Biogenesis 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
trans-Golgi Network Vesicle Budding pathway
Glycogen storage diseases pathway
MPS VII - Sly syndrome pathway
Clathrin derived vesicle budding 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 | F1MXZ0 | ||||||||||
| UniProt Splice Variant | |||||||||||
| Entrez Gene | 512444 | ||||||||||
| UniGene | Bt.20235 | ||||||||||
| RefSeq | NM_001075562 | ||||||||||
| HUGO | |||||||||||
| OMIM | |||||||||||
| CCDS | |||||||||||
| HPRD | |||||||||||
| IMGT | |||||||||||
| EMBL | DAAA02013337 | ||||||||||
| GenPept | |||||||||||
| RNA Seq Atlas | 512444 | ||||||||||