CHST6

CHST6
Identifiers
Aliases	CHST6 , MCDC1, carbohydrate sulfotransferase 6, GST4-beta, gn6st-5, hCGn6ST, glcNAc6ST-5, C-GlcNAc6ST
External IDs	OMIM: 605294; MGI: 1931825; HomoloGene: 56927; GeneCards: CHST6; OMA:CHST6 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16q23.1 Start 75,472,052 bp [1] End 75,495,445 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 E1 Start 112,615,768 bp [2] End 112,637,079 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell nasal epithelium tibia mucosa of paranasal sinus olfactory zone of nasal mucosa trachea external globus pallidus inferior ganglion of vagus nerve subthalamic nucleus pars reticulata Top expressed in vestibular sensory epithelium utricle trachea cornea iris vestibular membrane of cochlear duct trigeminal ganglion lumbar spinal ganglion stria vascularis superior cervical ganglion More reference expression data BioGPS n/a
Gene ontology Molecular function sulfotransferase activity transferase activity N-acetylglucosamine 6-O-sulfotransferase activity Cellular component Golgi apparatus Golgi membrane membrane integral component of membrane trans-Golgi network Biological process sulfur compound metabolic process keratan sulfate biosynthetic process N-acetylglucosamine metabolic process carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4166 56773 Ensembl ENSG00000183196 ENSMUSG00000031952 UniProt Q9GZX3 Q9QUP4 RefSeq (mRNA) NM_021615 NM_019950 RefSeq (protein) NP_067628 NP_064334 Location (UCSC) Chr 16: 75.47 – 75.5 Mb Chr 8: 112.62 – 112.64 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene. ^{[5] [6] [7]}

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

References

1. GRCh38: Ensembl release 89: ENSG00000183196 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031952 – 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. 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.
6. 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. S2CID   25547752.
7. "Entrez Gene: CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6".

External links

• Human CHST6 genome location and CHST6 gene details page in the UCSC Genome Browser .

Further reading

• Bernstein HB, Compans RW (1992). "Sulfation of the human immunodeficiency virus envelope glycoprotein". J. Virol. 66 (12): 6953–9. doi:10.1128/JVI.66.12.6953-6959.1992. PMC   240329 . PMID   1433500.
• Shilatifard A, Merkle RK, Helland DE, et al. (1993). "Complex-type N-linked oligosaccharides of gp120 from human immunodeficiency virus type 1 contain sulfated N-acetylglucosamine". J. Virol. 67 (2): 943–52. doi:10.1128/JVI.67.2.943-952.1993. PMC   237448 . PMID   8419650.
• Uchimura K, Fasakhany F, Kadomatsu K, et al. (2000). "Diversity of N-acetylglucosamine-6-O-sulfotransferases: molecular cloning of a novel enzyme with different distribution and specificities". Biochem. Biophys. Res. Commun. 274 (2): 291–6. doi:10.1006/bbrc.2000.3141. PMID   10913333.
• Spiro MJ, Spiro RG (2001). "Sulfation of the N-linked oligosaccharides of influenza virus hemagglutinin: temporal relationships and localization of sulfotransferases". Glycobiology. 10 (11): 1235–42. doi: 10.1093/glycob/10.11.1235 . PMID   11087716.
• Liu NP, Dew-Knight S, Rayner M, et al. (2001). "Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland". Mol. Vis. 6: 261–4. PMID   11139648.
• Hemmerich S, Lee JK, Bhakta S, et al. (2001). "Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family". Glycobiology. 11 (1): 75–87. doi: 10.1093/glycob/11.1.75 . PMID   11181564.
• Akama TO, Nakayama J, Nishida K, et al. (2001). "Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate". J. Biol. Chem. 276 (19): 16271–8. doi: 10.1074/jbc.M009995200 . PMID   11278593.
• Bartes A, Bhakta S, Hemmerich S (2001). "Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta)". Biochem. Biophys. Res. Commun. 282 (4): 928–33. doi:10.1006/bbrc.2001.4668. PMID   11352640.
• El-Ashry MF, Abd El-Aziz MM, Wilkins S, et al. (2002). "Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 43 (2): 377–82. PMID   11818380.
• Akama TO, Misra AK, Hindsgaul O, Fukuda MN (2003). "Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate". J. Biol. Chem. 277 (45): 42505–13. doi: 10.1074/jbc.M207412200 . PMID   12218059.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Niel F, Ellies P, Dighiero P, et al. (2003). "Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 44 (7): 2949–53. doi:10.1167/iovs.02-0740. PMID   12824236.
• Iida-Hasegawa N, Furuhata A, Hayatsu H, et al. (2003). "Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity". Invest. Ophthalmol. Vis. Sci. 44 (8): 3272–7. doi:10.1167/iovs.02-0910. PMID   12882769.
• Ha NT, Chau HM, Cung le X, et al. (2003). "Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 44 (8): 3310–6. doi:10.1167/iovs.03-0031. PMID   12882775.
• Ha NT, Chau HM, Cung le X, et al. (2003). "Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations". Cornea. 22 (6): 508–11. doi:10.1097/00003226-200308000-00004. PMID   12883341. S2CID   25039164.
• Warren JF, Aldave AJ, Srinivasan M, et al. (2003). "Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India". Arch. Ophthalmol. 121 (11): 1608–12. doi:10.1001/archopht.121.11.1608. PMID   14609920.
• Sultana A, Sridhar MS, Jagannathan A, et al. (2004). "Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India". Mol. Vis. 9: 730–4. PMID   14735064.
• Abbruzzese C, Kuhn U, Molina F, et al. (2004). "Novel mutations in the CHST6 gene causing macular corneal dystrophy". Clin. Genet. 65 (2): 120–5. doi:10.1111/j.0009-9163.2004.00191.x. hdl: 11380/451160 . PMID   14984470. S2CID   32667901.