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N-sulphoglucosamine sulphohydrolase; sulfoglucosamine sulfamidase; heparan sulfamidase; heparan-N-sulfatase (SGSH, HSS)

Function: glucosamine-2-sulfate + H2O = D-glucosamine + sulfate Cofactor: binds 1 Ca+2 per subunit (putative) Structure: - conversion to 3-oxoalanine (C-formylglycine, FGly), of Cys is critical for catalytic activity (putative) - belongs to the sulfatase family Compartment: lysosome Pathology: - defects in SGSH are the cause of mucopolysaccharidosis 3A (Sanfillipo syndrome A) Pharmacology: - recombinant heparan-N-sulfatase granted orphan status for treatment of Sanfilippo syndrome A [4] Laboratory: - heparan-N-sulfatase in fibroblasts - heparan-N-sulfatase in leukocytes

General

Ca+2 binding protein glycoprotein human longevity protein sulfamidase

Properties

SIZE: entity length = 502 aa MW = 57 kD COMPARTMENT: lysosome MOTIF: signal sequence {1-20} Ca+2-binding site SITE: 31-31 Ca+2-binding site SITE: 32-32 N-glycosylation site {N41} Ca+2-binding site SITE: 70-70 N-glycosylation site {N142} N-glycosylation site {N151} N-glycosylation site {N264} Ca+2-binding site SITE: 273-273 Ca+2-binding site SITE: 274-274 N-glycosylation site {N413}

Database Correlations

OMIM correlations MORBIDMAP 605270 UniProt P51688 Pfam PF00884 Entrez Gene 6448 Kegg hsa:6448 ENZYME 3.10.1.1

References

  1. UniProt :accession P51688
  2. UniProt PubMed refs - PMID: 12000360 - PMID: 000360 - PMID: 15146460 - PMID: 146460 - PMID: 15902564 - PMID: 902564 - PMID: 17128482 - PMID: 128482 - PMID: 21671382 - PMID: 671382 - PMID: 9285796 - PMID: 85796 - PMID: 9554748 - PMID: 54748
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SGSH
  4. Committee for Orphan Medicinal Products Public summary of positive opinion for orphan designation of recombinant human heparan-N-sulfatase for the treatment of mucopolysaccharidosis III, type A (Sanfilippo A syndrome) June 24, 2009 http://www.ema.europa.eu/docs/en_GB/document_library/Orphan_designation/2009/10/WC500005941.pdf