• Gene id: 2799

Gene Summary

• Gene Symbol: GNS   Gene   UCSC   Ensembl
• Aliases: G6S
• Gene name: glucosamine (N-acetyl)-6-sulfatase
• Alternate names: N-acetylglucosamine-6-sulfatase, glucosamine -6-sulfatase,
• Gene location: 12q14.3 (64759405: 64713448)     Exons: 14     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 607664

Protein Summary

• Protein general information: P15586  
  • Name: N acetylglucosamine 6 sulfatase (EC 3.1.6.14) (Glucosamine 6 sulfatase) (G6S)
  • Length: 552  
  • Mass: 62082
• Sequence:

  MRLLPLAPGRLRRGSPRHLPSCSPALLLLVLGGCLGVFGVAAGTRRPNVVLLLTDDQDEVLGGMTPLKKTKALIG
  EMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKY
  LNEYGAPDAGGLEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPF
  FMMIATPAPHSPWTAAPQYQKAFQNVFAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVD
  DLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKRQLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLG
  PTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSLSPGVSQCFPDCVCEDAYNN
  TYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTPGVFD
  PGYRFDPRLMFSNRGSVRTRRFSKHLL

• Structural information:
  • Interpro: IPR017850  IPR012251  IPR015981  IPR024607  IPR000917  
  • Prosite: PS00523 PS00149
  • STRING: ENSP00000258145
• Other Databases: GeneCards:  GNS  Malacards:  GNS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005539	glycosaminoglycan binding	IBA	molecular function
GO:0008449	N-acetylglucosamine-6-sulfatase activity	IBA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0008449	N-acetylglucosamine-6-sulfatase activity	IEA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IEA	molecular function
GO:0030203	glycosaminoglycan metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008449	N-acetylglucosamine-6-sulfatase activity	TAS	molecular function
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0008449	N-acetylglucosamine-6-sulfatase activity	IEA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IDA	molecular function
GO:0008449	N-acetylglucosamine-6-sulfatase activity	TAS	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00531	Glycosaminoglycan degradation

Diseases

Associated diseases	References
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type III	KEGG:H00130
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type III	KEGG:H00130
mucopolysaccharidosis III	PMID:12573255
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray