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
glucosamine (N-acetyl)-6-sulfatase
glucosamine (N-acetyl)-6-sulfatase
glucosamine (N-acetyl)-6-sulfatase
glucosamine (N-acetyl)-6-sulfatase
glucosamine (N-acetyl)-6-sulfatase
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
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
Clathrin derived vesicle budding pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Keratan sulfate degradation 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
Lysosome Vesicle Biogenesis 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
KEGG
Glycosaminoglycan degradation pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL F5H4C6
UniProt Splice Variant
Entrez Gene 2799
UniGene Hs.334534 Hs.682295
RefSeq NM_002076
HUGO HGNC:4422
OMIM 607664
CCDS CCDS8970
HPRD 09637
IMGT
EMBL AC025262
GenPept
RNA Seq Atlas 2799