• Gene id: 2588

Gene Summary

• Gene Symbol: GALNS   Gene   UCSC   Ensembl
• Aliases: GALNAC6S, GAS, GalN6S, MPS4A
• Gene name: galactosamine (N-acetyl)-6-sulfatase
• Alternate names: N-acetylgalactosamine-6-sulfatase, N-acetylgalactosamine-6-sulfate sulfatase, chondroitinase, chondroitinsulfatase, galNAc6S sulfatase, galactosamine (N-acetyl)-6-sulfate sulfatase, galactose-6-sulfate sulfatase,
• Gene location: 16q24.3 (88856965: 88813733)     Exons: 16     NC_000016.10
• Gene summary(Entrez): This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations
• OMIM: 612222

Protein Summary

• Protein general information: P34059  
  • Name: N acetylgalactosamine 6 sulfatase (EC 3.1.6.4) (Chondroitinsulfatase) (Chondroitinase) (Galactose 6 sulfate sulfatase) (GalN6S) (N acetylgalactosamine 6 sulfate sulfatase) (GalNAc6S sulfatase)
  • Length: 522  
  • Mass: 58026
• Sequence:

  MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFPNFYSA
  NPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFH
  PLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHP
  FFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQG
  GSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQG
  RLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGE
  RFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH

• Structural information:
  • Interpro: IPR017850  IPR035626  IPR024607  IPR000917  
  • Prosite: PS00523 PS00149
  • CDD: cd16157
  • PDB: 4FDI 4FDJ
  • PDBsum: 4FDI 4FDJ
  • STRING: ENSP00000268695
• Other Databases: GeneCards:  GALNS  Malacards:  GALNS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004065	arylsulfatase activity	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IEA	molecular function
GO:0043890	N-acetylgalactosamine-6-sulfatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0003943	N-acetylgalactosamine-4-sulfatase activity	TAS	molecular function
GO:0043890	N-acetylgalactosamine-6-sulfatase activity	IEA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IDA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
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: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 IV	KEGG:H00123
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type IV	KEGG:H00123
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq