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
^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.
^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.
^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.
External linksedit
N-acetylglucosamine-6-sulfatase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
acetylglucosamine, sulfatase, glucosamine, acetyl, sulfatase, systematic, name, acetyl, glucosamine, sulfate, sulfohydrolase, enzyme, that, humans, encoded, gene, deficient, sanfilippo, syndrome, type, iiid, catalyses, hydrolysis, sulfate, groups, acetyl, gluc. 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 sulfateN acetylglucosamine 6 sulfataseIdentifiersEC no 3 1 6 14CAS no 60320 99 2DatabasesIntEnzIntEnz viewBRENDABRENDA entryExPASyNiceZyme viewKEGGKEGG entryMetaCycmetabolic pathwayPRIAMprofilePDB structuresRCSB PDB PDBe PDBsumGene OntologyAmiGO QuickGOSearchPMCarticlesPubMedarticlesNCBIproteinsGNSIdentifiersAliasesGNS G6S glucosamine N acetyl 6 sulfataseExternal IDsOMIM 607664 MGI 1922862 HomoloGene 1568 GeneCards GNSGene location Human Chr Chromosome 12 human 1 Band12q14 3Start64 713 445 bp 1 End64 759 431 bp 1 Gene location Mouse Chr Chromosome 10 mouse 2 Band10 10 D2Start121 200 995 bp 2 End121 233 154 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed invisceral pleurakidney tubuleretinal pigment epitheliumstromal cell of endometriummetanephric glomerulusleft adrenal glandrenal medullaparietal pleuraperiodontal fibergerminal epitheliumTop expressed inciliary bodyirisretinal pigment epitheliumcalvariasacculeconjunctival fornixexternal carotid arterycarotid bodyinternal carotid arterymotor neuronMore reference expression dataBioGPSn aGene ontologyMolecular functionsulfuric ester hydrolase activity protein binding catalytic activity hydrolase activity metal ion binding N acetylglucosamine 6 sulfatase activity glycosaminoglycan bindingCellular componentlysosome lysosomal lumen extracellular exosome extracellular region azurophil granule lumen ficolin 1 rich granule lumenBiological processmetabolism glycosaminoglycan catabolic process keratan sulfate catabolic process glycosaminoglycan metabolic process neutrophil degranulationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez279975612EnsemblENSG00000135677ENSMUSG00000034707UniProtP15586Q8BFR4RefSeq mRNA NM 002076NM 029364NM 001364695RefSeq protein NP 002067NP 002067 1NP 083640NP 001351624Location UCSC Chr 12 64 71 64 76 MbChr 10 121 2 121 23 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 Nomenclature 4 References 5 External linksFunction editN 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 editDeficiency 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 editThe 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 edit a b c GRCh38 Ensembl release 89 ENSG00000135677 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000034707 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b c Entrez Gene Glucosamine N acetyl 6 sulfatase 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 Kresse H Fuchs W Glossl J Holtfrerich D Gilberg W December 1981 N acetylglucosamine 6 sulfate by human b N acetylhexosaminidase A J Biol Chem 256 24 12926 32 doi 10 1016 S0021 9258 18 42985 7 PMID 6458607 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 External links editN acetylglucosamine 6 sulfatase at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain Portal nbsp Biology This EC 3 1 enzyme related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title N acetylglucosamine 6 sulfatase amp oldid 1178941117, wikipedia, wiki, book, books, library,
