Version 5.4
Homo sapiens Gene: GNS
Summary
InnateDB Gene IDBG-45087.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNS
Gene Name glucosamine (N-acetyl)-6-sulfatase
Synonyms G6S
Species Homo sapiens
Ensembl Gene ENSG00000135677
Encoded Proteins
IDBP-45089
glucosamine (N-acetyl)-6-sulfatase
IDBP-379478
glucosamine (N-acetyl)-6-sulfatase
IDBP-603294
glucosamine (N-acetyl)-6-sulfatase
IDBP-595060
glucosamine (N-acetyl)-6-sulfatase
IDBP-603800
glucosamine (N-acetyl)-6-sulfatase
IDBP-597264
glucosamine (N-acetyl)-6-sulfatase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:64713445-64759447
Strand Reverse strand
Band q14.3
Transcripts
ENST00000258145 ENSP00000258145
ENST00000418919 ENSP00000413130
ENST00000543646 ENSP00000438497
ENST00000542058 ENSP00000444819
ENST00000541781
ENST00000537823
ENST00000540196 ENSP00000437782
ENST00000540883
ENST00000545273 ENSP00000445055
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated
Total 23 [view]
Protein-Protein 20 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0008449 N-acetylglucosamine-6-sulfatase activity
GO:0008484 sulfuric ester hydrolase activity
GO:0046872 metal ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006027 glycosaminoglycan catabolic process
GO:0008152 metabolic process
GO:0030203 glycosaminoglycan metabolic process
GO:0042339 keratan sulfate metabolic process
GO:0042340 keratan sulfate catabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005764 lysosome
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000034707
View Gene Order
ENSBTAG00000017465
Not yet available
Pathways
NETPATH
REACTOME
REACT_121313
Keratan sulfate degradation pathway
REACT_19287
Lysosome Vesicle Biogenesis pathway
REACT_19187
Clathrin derived vesicle budding pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_11235
trans-Golgi Network Vesicle Budding pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_121288
Keratan sulfate/keratin metabolism pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_11123
Membrane Trafficking pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00531
Glycosaminoglycan degradation pathway
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.334534 Hs.682295
RefSeq NM_002076
HUGO
OMIM
CCDS CCDS8970
HPRD 09637
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca