N-acetylglucosamine-6-sulfatase

GNS
Identifiers
Aliases	GNS, G6S, glucosamine (N-acetyl)-6-sulfatase
External IDs	OMIM: 607664; MGI: 1922862; GeneCards: GNS
Enzyme activity
Gene location (Human)
Chr.	Chromosome 12 (human)
End	64,759,431 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	121,233,154 bp
RNA expression pattern
	Top expressed in
	visceral pleura; ; kidney tubule; ; retinal pigment epithelium; ; right adrenal cortex; ; stromal cell of endometrium; ; metanephric glomerulus; ; left adrenal gland; ; renal medulla; ; parietal pleura; ; periodontal fiber;
	Top expressed in
	ciliary body; ; iris; ; stroma of bone marrow; ; retinal pigment epithelium; ; Epithelium of choroid plexus; ; vestibular membrane of cochlear duct; ; decidua; ; epithelium of lens; ; calvaria; ; saccule;
	More reference expression data
	n/a
Gene ontology
Molecular function	sulfuric ester hydrolase activity; protein binding; catalytic activity; hydrolase activity; metal ion binding; N-acetylglucosamine-6-sulfatase activity; glycosaminoglycan binding;
Cellular component	lysosome; lysosomal lumen; extracellular exosome; extracellular region; azurophil granule lumen; ficolin-1-rich granule lumen;
Biological process	metabolism; glycosaminoglycan catabolic process; keratan sulfate catabolic process; glycosaminoglycan metabolic process; neutrophil degranulation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	2799
	75612
	ENSG00000135677
	ENSMUSG00000034707
	P15586
	Q8BFR4
	NM_002076
	NM_029364; NM_001364695
	NP_002067; NP_002067.1
	NP_083640; NP_001351624
	Wikidata
View/Edit Human	View/Edit Mouse

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PMC	articles
PubMed	articles
NCBI	proteins

N-acetylglucosamine-6-sulfatase
N-acetylglucosamine-6-sulfatase
Identifiers
EC no.	3.1.6.14
CAS no.	60320-99-2
Databases
BRENDA	enzyme data
ExPASy	NiceZyme view
KEGG	enzyme entry
MetaCyc	metabolic pathway
Rhea	reactions
PDB structures	RCSB PDB PDBe PDBsum
Gene Ontology	AmiGO / QuickGO
PMC
Search
PMC	articles
PubMed	articles
NCBI	proteins

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. It is deficient in Sanfilippo Syndrome type IIId. It catalyses the hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate

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.

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.

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 2 3 GRCh38: Ensembl release 89: ENSG00000135677 – Ensembl, May 2017
1 2 3 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.
1 2 3 "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, 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. Bibcode:1980BBRC...97..827W. doi:10.1016/0006-291x(80)90338-1. PMID 6451222.

External links

N-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.

This EC 3.1 enzyme-related article is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000135677 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 3 "Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase".

[pmid762121-6] 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.

[pmid6458607-7] 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.

[pmid6451222-8] 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. Bibcode:1980BBRC...97..827W. doi:10.1016/0006-291x(80)90338-1. PMID 6451222.

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)