Mus musculus Gene: Gns
Summary
InnateDB Gene IDBG-192814.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Gns
Gene Name glucosamine (N-acetyl)-6-sulfatase
Synonyms 2610016K11Rik; AU042285; C87209; G6S; N28088
Species Mus musculus
Ensembl Gene ENSMUSG00000034707
Encoded Proteins
glucosamine (N-acetyl)-6-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 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:121365090-121397245
Strand Forward strand
Band D2
Transcripts
ENSMUST00000040344 ENSMUSP00000043167
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
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:0008152 metabolic process
GO:0030203 glycosaminoglycan metabolic process
Cellular Component
GO:0005764 lysosome
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
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
KEGG
Glycosaminoglycan degradation pathway
Lysosome pathway
INOH
PID NCI
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
KEGG
Glycosaminoglycan degradation pathway
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt Q8BFR4
TrEMBL Q3UBB0 Q3UDX9 Q6PCZ1
UniProt Splice Variant
Entrez Gene 75612
UniGene Mm.391753
RefSeq NM_029364
OMIM
CCDS CCDS24210
HPRD
IMGT
MGI ID MGI:1922862
MGI Symbol Gns
EMBL AK030773 AK049162 AK054046 AK083597 AK149863 AK151037 AK159562 AK165180 AK169485 AK170791 BC055328 BC059047
GenPept AAH55328 AAH59047 BAC27129 BAC33578 BAC35632 BAC38966 BAE29132 BAE30054 BAE35186 BAE38063 BAE41197 BAE42031
RNA Seq Atlas 75612