• Gene id: 6448

Gene Summary

• Gene Symbol: SGSH   Gene   UCSC   Ensembl
• Aliases: HSS, MPS3A, SFMD
• Gene name: N-sulfoglucosamine sulfohydrolase
• Alternate names: N-sulphoglucosamine sulphohydrolase, heparan sulfate sulfatase, mucopolysaccharidosis type IIIA, sulfoglucosamine sulfamidase, sulphamidase,
• Gene location: 17q25.3 (80220332: 80200667)     Exons: 16     NC_000017.11
• Gene summary(Entrez): This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrom
• OMIM: 605270

Protein Summary

• Protein general information: P51688  
  • Name: N sulphoglucosamine sulphohydrolase (EC 3.10.1.1) (Sulfoglucosamine sulfamidase) (Sulphamidase)
  • Length: 502  
  • Mass: 56695
• Sequence:

  MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAIATPHLDALARRSLLFRNAFTSVSSCSPSRA
  SLLTGLPQHQNGMYGLHQDVHHFNSFDKVRSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTEENGSVLQVGR
  NITRIKLLVRKFLQTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPLDVLVPYF
  VPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPSGRTNLYWPGTAEPLLVSSPE
  HPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKTIHLTGRSLLPALEAEPLWATVFGSQSHHEVTMSYP
  MRSVQHRHFRLVHNLNFKMPFPIDQDFYVSPTFQDLLNRTTAGQPTGWYKDLRHYYYRARWELYDRSRDPHETQN
  LATDPRFAQLLEMLRDQLAKWQWETHDPWVCAPDGVLEEKLSPQCQPLHNEL

• Structural information:
  • Interpro: IPR017850  IPR032506  IPR024607  IPR000917  
  • Prosite: PS00523 PS00149
  • PDB: 4MHX 4MIV
  • PDBsum: 4MHX 4MIV
  • STRING: ENSP00000314606
• Other Databases: GeneCards:  SGSH  Malacards:  SGSH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006027	glycosaminoglycan catabolic process	IBA	biological process
GO:0005539	glycosaminoglycan binding	IBA	molecular function
GO:0008449	N-acetylglucosamine-6-sulfatase activity	IBA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IBA	molecular function
GO:0016250	N-sulfoglucosamine sulfohydrolase activity	IBA	molecular function
GO:0030200	heparan sulfate proteoglycan catabolic process	IBA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0006027	glycosaminoglycan catabolic process	IDA	biological process
GO:0006027	glycosaminoglycan catabolic process	IDA	biological process
GO:0016250	N-sulfoglucosamine sulfohydrolase activity	IDA	molecular function
GO:0016250	N-sulfoglucosamine sulfohydrolase activity	IDA	molecular function
GO:0030200	heparan sulfate proteoglycan catabolic process	IMP	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016250	N-sulfoglucosamine sulfohydrolase activity	IEA	molecular function
GO:0016250	N-sulfoglucosamine sulfohydrolase activity	TAS	molecular function
GO:0016250	N-sulfoglucosamine sulfohydrolase activity	TAS	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0008484	sulfuric ester hydrolase activity	IEA	molecular function
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:15902564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray