N-acetylglucosamine-6-sulfatase

N-acetylglucosamine-6-sulfatase (EC 3.1.6.14, glucosamine (N-acetyl)-6-sulfatase, systematic name N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase) is an enzyme that in humans is encoded by the GNS gene.[5] It is deficient in Sanfilippo Syndrome type IIId.[6][7][8] It catalyses the hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate

N-acetylglucosamine-6-sulfatase
Identifiers
EC no.3.1.6.14
CAS no.60320-99-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins
GNS
Identifiers
AliasesGNS, G6S, glucosamine (N-acetyl)-6-sulfatase
External IDsOMIM: 607664 MGI: 1922862 HomoloGene: 1568 GeneCards: GNS
Orthologs
SpeciesHumanMouse
Entrez

2799

75612

Ensembl

ENSG00000135677

ENSMUSG00000034707

UniProt

P15586

Q8BFR4

RefSeq (mRNA)

NM_002076

NM_029364
NM_001364695

RefSeq (protein)

NP_002067
NP_002067.1

NP_083640
NP_001351624

Location (UCSC)Chr 12: 64.71 – 64.76 MbChr 10: 121.2 – 121.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

N-acetylglucosamine-6-sulfatase is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate.[5]

Clinical significance

Deficiency of this enzyme results in the accumulation of undergraded 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.[5]

Nomenclature

The systematic name of this enzyme is "N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase". Other accepted names include:

  • N-acetylglucosamine-6-sulfatase,
  • glucosamine (N-acetyl)-6-sulfatase,
  • 2-acetamido-2-deoxy-D-glucose 6-sulfate sulfatase,
  • N-acetylglucosamine 6-sulfate sulfatase,
  • O,N-disulfate O-sulfohydrolase,
  • acetylglucosamine 6-sulfatase,
  • chondroitinsulfatase, and
  • glucosamine-6-sulfatase.

References
  1. GRCh38: Ensembl release 89: ENSG00000135677 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000034707 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase".
  6. Basner R, Kresse H, von Figura K (February 1979). "N-Acetylglucosamine-6-sulfate sulfatase from human urine". J. Biol. Chem. 254 (4): 1151–8. doi:10.1016/S0021-9258(17)34181-9. PMID 762121.
  7. Kresse H, Fuchs W, Glössl J, Holtfrerich D, Gilberg W (December 1981). "N-acetylglucosamine-6-sulfate by human β-N-acetylhexosaminidase A". J. Biol. Chem. 256 (24): 12926–32. doi:10.1016/S0021-9258(18)42985-7. PMID 6458607.
  8. Weissmann B, Chao H, Chow P (November 1980). "A glucosamine O,N-disulfate O-sulfohydrolase with a probable role in mammalian catabolism of heparan sulfate". Biochem. Biophys. Res. Commun. 97 (2): 827–33. doi:10.1016/0006-291x(80)90338-1. PMID 6451222.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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