CHST6: Difference between revisions

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{{Infobox_gene}}
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'''Carbohydrate sulfotransferase 6''' is an [[enzyme]] that in humans is encoded by the ''CHST6'' [[gene]].<ref name="pmid8644739">{{cite journal | vauthors = Vance JM, Jonasson F, Lennon F, Sarrica J, Damji KF, Stauffer J, Pericak-Vance MA, Klintworth GK | title = Linkage of a gene for macular corneal dystrophy to chromosome 16 | journal = Am J Hum Genet | volume = 58 | issue = 4 | pages = 757–62 |date=Jul 1996 | pmid = 8644739 | pmc = 1914688 | doi =  }}</ref><ref name="pmid11017086">{{cite journal | vauthors = Akama TO, Nishida K, Nakayama J, Watanabe H, Ozaki K, Nakamura T, Dota A, Kawasaki S, Inoue Y, Maeda N, Yamamoto S, Fujiwara T, Thonar EJ, Shimomura Y, Kinoshita S, Tanigami A, Fukuda MN | title = Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene | journal = Nat Genet | volume = 26 | issue = 2 | pages = 237–41 |date=Nov 2000 | pmid = 11017086 | pmc = | doi = 10.1038/79987 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4166| accessdate = }}</ref>
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It codes for an enzyme necessary for the production of [[keratan sulfate]]. Mutations in the gene lead to [[macular corneal dystrophy]].
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==References==
{{GNF_Protein_box
{{reflist}}
| image = 
| image_source = 
| PDB =
| Name = Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
| HGNCid = 6938
| Symbol = CHST6
| AltSymbols =; MCDC1
| OMIM = 605294
| ECnumber = 
| Homologene = 56927
| MGIid = 1931825
| Function = {{GNF_GO|id=GO:0001517 |text = N-acetylglucosamine 6-O-sulfotransferase activity}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
| Component = {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0031228 |text = intrinsic to Golgi membrane}}
| Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0006044 |text = N-acetylglucosamine metabolic process}} {{GNF_GO|id=GO:0006790 |text = sulfur metabolic process}} {{GNF_GO|id=GO:0018146 |text = keratan sulfate biosynthetic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4166
    | Hs_Ensembl = ENSG00000183196
    | Hs_RefseqProtein = NP_067628
    | Hs_RefseqmRNA = NM_021615
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 16
    | Hs_GenLoc_start = 74064528
    | Hs_GenLoc_end = 74086427
    | Hs_Uniprot = Q9GZX3
    | Mm_EntrezGene = 56773
    | Mm_Ensembl = ENSMUSG00000031952
    | Mm_RefseqmRNA = NM_019950
    | Mm_RefseqProtein = NP_064334
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 8
    | Mm_GenLoc_start = 114775809
    | Mm_GenLoc_end = 114796872
    | Mm_Uniprot = Q9QUP4
  }}
}}
'''Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6''', also known as '''CHST6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4166| accessdate = }}</ref>


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==External links==
{{PBB_Summary
* {{UCSC gene info|CHST6}}
| section_title =
| summary_text =
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==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Bernstein HB, Compans RW |title=Sulfation of the human immunodeficiency virus envelope glycoprotein. |journal=J. Virol. |volume=66 |issue= 12 |pages= 6953-9 |year= 1992 |pmid= 1433500 |doi=  }}
*{{cite journal  | vauthors=Bernstein HB, Compans RW |title=Sulfation of the human immunodeficiency virus envelope glycoprotein. |journal=J. Virol. |volume=66 |issue= 12 |pages= 6953–9 |year= 1992 |pmid= 1433500 |doi= | pmc=240329 }}
*{{cite journal  | author=Shilatifard A, Merkle RK, Helland DE, ''et al.'' |title=Complex-type N-linked oligosaccharides of gp120 from human immunodeficiency virus type 1 contain sulfated N-acetylglucosamine. |journal=J. Virol. |volume=67 |issue= 2 |pages= 943-52 |year= 1993 |pmid= 8419650 |doi=  }}
*{{cite journal  | vauthors=Shilatifard A, Merkle RK, Helland DE |title=Complex-type N-linked oligosaccharides of gp120 from human immunodeficiency virus type 1 contain sulfated N-acetylglucosamine. |journal=J. Virol. |volume=67 |issue= 2 |pages= 943–52 |year= 1993 |pmid= 8419650 |doi=  | pmc=237448  |display-authors=etal}}
*{{cite journal  | author=Vance JM, Jonasson F, Lennon F, ''et al.'' |title=Linkage of a gene for macular corneal dystrophy to chromosome 16. |journal=Am. J. Hum. Genet. |volume=58 |issue= 4 |pages= 757-62 |year= 1996 |pmid= 8644739 |doi= }}
*{{cite journal  | vauthors=Uchimura K, Fasakhany F, Kadomatsu K |title=Diversity of N-acetylglucosamine-6-O-sulfotransferases: molecular cloning of a novel enzyme with different distribution and specificities. |journal=Biochem. Biophys. Res. Commun. |volume=274 |issue= 2 |pages= 291–6 |year= 2000 |pmid= 10913333 |doi= 10.1006/bbrc.2000.3141 |display-authors=etal}}
*{{cite journal  | author=Uchimura K, Fasakhany F, Kadomatsu K, ''et al.'' |title=Diversity of N-acetylglucosamine-6-O-sulfotransferases: molecular cloning of a novel enzyme with different distribution and specificities. |journal=Biochem. Biophys. Res. Commun. |volume=274 |issue= 2 |pages= 291-6 |year= 2000 |pmid= 10913333 |doi= 10.1006/bbrc.2000.3141 }}
*{{cite journal  | vauthors=Spiro MJ, Spiro RG |title=Sulfation of the N-linked oligosaccharides of influenza virus hemagglutinin: temporal relationships and localization of sulfotransferases. |journal=Glycobiology |volume=10 |issue= 11 |pages= 1235–42 |year= 2001 |pmid= 11087716 |doi=10.1093/glycob/10.11.1235  }}
*{{cite journal  | author=Akama TO, Nishida K, Nakayama J, ''et al.'' |title=Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. |journal=Nat. Genet. |volume=26 |issue= 2 |pages= 237-41 |year= 2000 |pmid= 11017086 |doi= 10.1038/79987 }}
*{{cite journal  | vauthors=Liu NP, Dew-Knight S, Rayner M |title=Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. |journal=Mol. Vis. |volume=6 |issue= |pages= 261–4 |year= 2001 |pmid= 11139648 |doi= |display-authors=etal}}
*{{cite journal  | author=Spiro MJ, Spiro RG |title=Sulfation of the N-linked oligosaccharides of influenza virus hemagglutinin: temporal relationships and localization of sulfotransferases. |journal=Glycobiology |volume=10 |issue= 11 |pages= 1235-42 |year= 2001 |pmid= 11087716 |doi= }}
*{{cite journal  | vauthors=Hemmerich S, Lee JK, Bhakta S |title=Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family. |journal=Glycobiology |volume=11 |issue= 1 |pages= 75–87 |year= 2001 |pmid= 11181564 |doi=10.1093/glycob/11.1.75  |display-authors=etal}}
*{{cite journal  | author=Liu NP, Dew-Knight S, Rayner M, ''et al.'' |title=Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. |journal=Mol. Vis. |volume=6 |issue= |pages= 261-4 |year= 2001 |pmid= 11139648 |doi= }}
*{{cite journal  | vauthors=Akama TO, Nakayama J, Nishida K |title=Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. |journal=J. Biol. Chem. |volume=276 |issue= 19 |pages= 16271–8 |year= 2001 |pmid= 11278593 |doi= 10.1074/jbc.M009995200 |display-authors=etal}}
*{{cite journal  | author=Hemmerich S, Lee JK, Bhakta S, ''et al.'' |title=Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family. |journal=Glycobiology |volume=11 |issue= 1 |pages= 75-87 |year= 2001 |pmid= 11181564 |doi= }}
*{{cite journal  | vauthors=Bartes A, Bhakta S, Hemmerich S |title=Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta). |journal=Biochem. Biophys. Res. Commun. |volume=282 |issue= 4 |pages= 928–33 |year= 2001 |pmid= 11352640 |doi= 10.1006/bbrc.2001.4668 }}
*{{cite journal  | author=Akama TO, Nakayama J, Nishida K, ''et al.'' |title=Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. |journal=J. Biol. Chem. |volume=276 |issue= 19 |pages= 16271-8 |year= 2001 |pmid= 11278593 |doi= 10.1074/jbc.M009995200 }}
*{{cite journal  | vauthors=El-Ashry MF, Abd El-Aziz MM, Wilkins S |title=Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. |journal=Invest. Ophthalmol. Vis. Sci. |volume=43 |issue= 2 |pages= 377–82 |year= 2002 |pmid= 11818380 |doi= |display-authors=etal}}
*{{cite journal  | author=Bartes A, Bhakta S, Hemmerich S |title=Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta). |journal=Biochem. Biophys. Res. Commun. |volume=282 |issue= 4 |pages= 928-33 |year= 2001 |pmid= 11352640 |doi= 10.1006/bbrc.2001.4668 }}
*{{cite journal  | vauthors=Akama TO, Misra AK, Hindsgaul O, Fukuda MN |title=Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. |journal=J. Biol. Chem. |volume=277 |issue= 45 |pages= 42505–13 |year= 2003 |pmid= 12218059 |doi= 10.1074/jbc.M207412200 }}
*{{cite journal  | author=El-Ashry MF, Abd El-Aziz MM, Wilkins S, ''et al.'' |title=Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. |journal=Invest. Ophthalmol. Vis. Sci. |volume=43 |issue= 2 |pages= 377-82 |year= 2002 |pmid= 11818380 |doi=  }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Akama TO, Misra AK, Hindsgaul O, Fukuda MN |title=Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. |journal=J. Biol. Chem. |volume=277 |issue= 45 |pages= 42505-13 |year= 2003 |pmid= 12218059 |doi= 10.1074/jbc.M207412200 }}
*{{cite journal  | vauthors=Niel F, Ellies P, Dighiero P |title=Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 7 |pages= 2949–53 |year= 2003 |pmid= 12824236 |doi=10.1167/iovs.02-0740  |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Iida-Hasegawa N, Furuhata A, Hayatsu H |title=Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 8 |pages= 3272–7 |year= 2003 |pmid= 12882769 |doi=10.1167/iovs.02-0910  |display-authors=etal}}
*{{cite journal  | author=Niel F, Ellies P, Dighiero P, ''et al.'' |title=Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 7 |pages= 2949-53 |year= 2003 |pmid= 12824236 |doi=  }}
*{{cite journal  | vauthors=Ha NT, Chau HM, Cung le X |title=Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 8 |pages= 3310–6 |year= 2003 |pmid= 12882775 |doi=10.1167/iovs.03-0031 |display-authors=etal}}
*{{cite journal  | author=Iida-Hasegawa N, Furuhata A, Hayatsu H, ''et al.'' |title=Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 8 |pages= 3272-7 |year= 2003 |pmid= 12882769 |doi=  }}
*{{cite journal  | vauthors=Ha NT, Chau HM, Cung le X |title=Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. |journal=Cornea |volume=22 |issue= 6 |pages= 508–11 |year= 2003 |pmid= 12883341 |doi=10.1097/00003226-200308000-00004 |display-authors=etal}}
*{{cite journal  | author=Ha NT, Chau HM, Cung le X, ''et al.'' |title=Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 8 |pages= 3310-6 |year= 2003 |pmid= 12882775 |doi= }}
*{{cite journal  | vauthors=Warren JF, Aldave AJ, Srinivasan M |title=Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. |journal=Arch. Ophthalmol. |volume=121 |issue= 11 |pages= 1608–12 |year= 2003 |pmid= 14609920 |doi= 10.1001/archopht.121.11.1608 |display-authors=etal}}
*{{cite journal  | author=Ha NT, Chau HM, Cung le X, ''et al.'' |title=Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. |journal=Cornea |volume=22 |issue= 6 |pages= 508-11 |year= 2003 |pmid= 12883341 |doi=  }}
*{{cite journal  | vauthors=Sultana A, Sridhar MS, Jagannathan A |title=Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. |journal=Mol. Vis. |volume=9 |issue= |pages= 730–4 |year= 2004 |pmid= 14735064 |doi=  |display-authors=etal}}
*{{cite journal  | author=Warren JF, Aldave AJ, Srinivasan M, ''et al.'' |title=Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. |journal=Arch. Ophthalmol. |volume=121 |issue= 11 |pages= 1608-12 |year= 2003 |pmid= 14609920 |doi= 10.1001/archopht.121.11.1608 }}
*{{cite journal  | vauthors=Abbruzzese C, Kuhn U, Molina F |title=Novel mutations in the CHST6 gene causing macular corneal dystrophy. |journal=Clin. Genet. |volume=65 |issue= 2 |pages= 120–5 |year= 2004 |pmid= 14984470 |doi=10.1111/j.0009-9163.2004.00191.x |display-authors=etal}}
*{{cite journal | author=Sultana A, Sridhar MS, Jagannathan A, ''et al.'' |title=Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. |journal=Mol. Vis. |volume=9 |issue=  |pages= 730-4 |year= 2004 |pmid= 14735064 |doi=  }}
*{{cite journal  | author=Abbruzzese C, Kuhn U, Molina F, ''et al.'' |title=Novel mutations in the CHST6 gene causing macular corneal dystrophy. |journal=Clin. Genet. |volume=65 |issue= 2 |pages= 120-5 |year= 2004 |pmid= 14984470 |doi=  }}
}}
}}
{{refend}}
{{refend}}


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{{gene-16-stub}}

Latest revision as of 09:42, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.[1][2][3]

It codes for an enzyme necessary for the production of keratan sulfate. Mutations in the gene lead to macular corneal dystrophy.

References

  1. ↑ Vance JM, Jonasson F, Lennon F, Sarrica J, Damji KF, Stauffer J, Pericak-Vance MA, Klintworth GK (Jul 1996). "Linkage of a gene for macular corneal dystrophy to chromosome 16". Am J Hum Genet. 58 (4): 757–62. PMC 1914688. PMID 8644739.
  2. ↑ Akama TO, Nishida K, Nakayama J, Watanabe H, Ozaki K, Nakamura T, Dota A, Kawasaki S, Inoue Y, Maeda N, Yamamoto S, Fujiwara T, Thonar EJ, Shimomura Y, Kinoshita S, Tanigami A, Fukuda MN (Nov 2000). "Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene". Nat Genet. 26 (2): 237–41. doi:10.1038/79987. PMID 11017086.
  3. ↑ "Entrez Gene: CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6".

External links

Further reading



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