Protein-coding gene in the species Homo sapiens
N-acetylglucosamine-6-sulfatase |
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Identifiers |
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EC no. | 3.1.6.14 |
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CAS no. | 60320-99-2 |
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Databases |
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IntEnz | IntEnz view |
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BRENDA | BRENDA entry |
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ExPASy | NiceZyme view |
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KEGG | KEGG entry |
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MetaCyc | metabolic pathway |
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PRIAM | profile |
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PDB structures | RCSB PDB PDBe PDBsum |
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Gene Ontology | AmiGO / QuickGO |
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Search |
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PMC | articles |
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PubMed | articles |
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NCBI | proteins |
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GNS |
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Identifiers |
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Aliases | GNS, G6S, glucosamine (N-acetyl)-6-sulfatase |
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External IDs | OMIM: 607664; MGI: 1922862; HomoloGene: 1568; GeneCards: GNS; OMA:GNS - orthologs |
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Gene location (Human) |
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![Chromosome 12 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/e/e7/Ideogram_human_chromosome_12.svg/300px-Ideogram_human_chromosome_12.svg.png) | Chr. | Chromosome 12 (human)[1] |
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| Band | 12q14.3 | Start | 64,713,445 bp[1] |
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End | 64,759,431 bp[1] |
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Gene location (Mouse) |
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![Chromosome 10 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Ideogram_house_mouse_chromosome_10.svg/260px-Ideogram_house_mouse_chromosome_10.svg.png) | Chr. | Chromosome 10 (mouse)[2] |
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| Band | 10|10 D2 | Start | 121,200,995 bp[2] |
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End | 121,233,154 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
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
- ^ 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, 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 links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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