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Showing Protein Carbohydrate sulfotransferase 6 (HMDBP02328)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 2 metabolites
Identification
HMDB Protein ID HMDBP02328
Secondary Accession Numbers
  • 7814
Name Carbohydrate sulfotransferase 6
Synonyms
  1. C-GlcNAc6ST
  2. Corneal N-acetylglucosamine-6-O-sulfotransferase
  3. GST4-beta
  4. Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta
  5. GlcNAc6ST-5
  6. Gn6st-5
  7. N-acetylglucosamine 6-O-sulfotransferase 5
  8. hCGn6ST
Gene Name CHST6
Protein Type Enzyme
Biological Properties
General Function Involved in sulfotransferase activity
Specific Function Catalyzes the transfer of sulfate to position 6 of non- reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non- reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures
Pathways Not Available
Reactions Not Available
GO Classification
Component
golgi membrane
membrane
cell part
organelle membrane
Function
catalytic activity
transferase activity
transferase activity, transferring sulfur-containing groups
sulfotransferase activity
Process
metabolic process
primary metabolic process
carbohydrate metabolic process
Cellular Location
  1. Golgi apparatus membrane
  2. Single-pass type II membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 16q22
SNPs CHST6
Gene Sequence 
>1188 bp
ATGTGGCTGCCGCGCGTCTCCAGCACAGCAGTGACCGCGCTCCTCCTGGCGCAGACCTTC
CTCCTCCTCTTTCTGGTTTCCCGGCCAGGGCCCTCGTCCCCAGCAGGCGGCGAGGCGCGC
GTGCATGTGCTGGTGCTGTCCTCGTGGCGCTCGGGCTCGTCCTTCGTGGGCCAACTCTTC
AACCAGCACCCCGACGTCTTCTACCTAATGGAGCCCGCGTGGCACGTGTGGACCACCCTG
TCGCAGGGCAGCGCCGCAACGCTGCACATGGCTGTGCGCGACCTGGTGCGCTCCGTCTTC
CTGTGCGACATGGACGTGTTTGATGCCTATCTGCCTTGGCGCCGCAACCTGTCCGACCTC
TTCCAGTGGGCCGTGAGCCGTGCACTGTGCTCGCCACCCGCCTGCAGTGCCTTTCCCCGA
GGCGCCATCAGCAGCGAGGCCGTGTGCAAGCCACTGTGCGCGCGGCAGTCCTTCACCCTG
GCCCGGGAGGCCTGCCGCTCCTACAGCCACGTGGTGCTCAAGGAGGTGCGCTTCTTCAAC
CTGCAGGTGCTCTACCCGCTGCTCAGCGACCCCGCGCTCAACCTACGCATCGTGCACCTG
GTGCGCGACCCGCGGGCCGTGCTGCGCTCCCGGGAGCAGACAGCCAAGGCTCTGGCGCGT
GACAACGGCATCGTGCTGGGCACCAACGGCACGTGGGTGGAGGCCGACCCCGGCCTGCGC
GTGGTGCGCGAGGTGTGCCGTAGCCACGTACGCATCGCCGAGGCCGCCACACTCAAGCCG
CCACCCTTTCTGCGCGGCCGCTACCGCCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCG
CTGGCAGAAATCCGTGCGCTCTACGCCTTCACTGGGCTCAGTCTCACGCCACAGCTCGAG
GCCTGGATCCATAACATCACCCACGGATCTGGACCTGGTGCGCGCCGCGAAGCCTTCAAG
ACTTCGTCCAGGAATGCGCTCAACGTCTCCCAGGCCTGGCGCCATGCGCTGCCCTTTGCC
AAGATCCGCCGCGTGCAGGAACTGTGCGCTGGTGCGCTGCAGCTGCTGGGCTACCGGCCT
GTGTACTCTGAGGACGAGCAGCGCAACCTCGCCCTTGATCTGGTGCTGCCACGAGGCCTG
AACGGCTTCACTTGGGCATCATCCACCGCCTCGCACCCCCGAAATTAG
Protein Properties
Number of Residues 395
Molecular Weight 44098.4
Theoretical pI 10.37
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 6-26
Protein Sequence 
>Carbohydrate sulfotransferase 6
MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLF
NQHPDVFYLMEPAWHVWTTLSQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDL
FQWAVSRALCSPPACSAFPRGAISSEAVCKPLCARQSFTLAREACRSYSHVVLKEVRFFN
LQVLYPLLSDPALNLRIVHLVRDPRAVLRSREQTAKALARDNGIVLGTNGTWVEADPGLR
VVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGLSLTPQLE
AWIHNITHGSGPGARREAFKTSSRNALNVSQAWRHALPFAKIRRVQELCAGALQLLGYRP
VYSEDEQRNLALDLVLPRGLNGFTWASSTASHPRN
GenBank ID Protein 11023146
UniProtKB/Swiss-Prot ID Q9GZX3
UniProtKB/Swiss-Prot Entry Name CHST6_HUMAN
PDB IDs Not Available
GenBank Gene ID AF219990
GeneCard ID CHST6
GenAtlas ID CHST6
HGNC ID HGNC:6938
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  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: Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Nat Genet. 2000 Oct;26(2):237-41. [PubMed:11017086 ]
  3. Hemmerich S, Lee JK, Bhakta S, Bistrup A, Ruddle NR, Rosen SD: Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family. Glycobiology. 2001 Jan;11(1):75-87. [PubMed:11181564 ]
  4. Bartes A, Bhakta S, Hemmerich S: Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta). Biochem Biophys Res Commun. 2001 Apr 13;282(4):928-33. [PubMed:11352640 ]
  5. Akama TO, Misra AK, Hindsgaul O, Fukuda MN: Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. J Biol Chem. 2002 Nov 8;277(45):42505-13. Epub 2002 Sep 5. [PubMed:12218059 ]
  6. Liu NP, Dew-Knight S, Rayner M, Jonasson F, Akama TO, Fukuda MN, Bao W, Gilbert JR, Vance JM, Klintworth GK: Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. Mol Vis. 2000 Dec 13;6:261-4. [PubMed:11139648 ]
  7. El-Ashry MF, Abd El-Aziz MM, Wilkins S, Cheetham ME, Wilkie SE, Hardcastle AJ, Halford S, Bayoumi AY, Ficker LA, Tuft S, Bhattacharya SS, Ebenezer ND: Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2002 Feb;43(2):377-82. [PubMed:11818380 ]
  8. Niel F, Ellies P, Dighiero P, Soria J, Sabbagh C, San C, Renard G, Delpech M, Valleix S: Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2003 Jul;44(7):2949-53. [PubMed:12824236 ]
  9. Iida-Hasegawa N, Furuhata A, Hayatsu H, Murakami A, Fujiki K, Nakayasu K, Kanai A: Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3272-7. [PubMed:12882769 ]
  10. Ha NT, Chau HM, Cung le X, Thanh TK, Fujiki K, Murakami A, Hiratsuka Y, Hasegawa N, Kanai A: Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. Cornea. 2003 Aug;22(6):508-11. [PubMed:12883341 ]
  11. Ha NT, Chau HM, Cung le X, Thanh TK, Fujiki K, Murakami A, Hiratsuka Y, Kanai A: Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3310-6. [PubMed:12882775 ]
  12. Warren JF, Aldave AJ, Srinivasan M, Thonar EJ, Kumar AB, Cevallos V, Whitcher JP, Margolis TP: Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. Arch Ophthalmol. 2003 Nov;121(11):1608-12. [PubMed:14609920 ]
  13. Sultana A, Sridhar MS, Jagannathan A, Balasubramanian D, Kannabiran C, Klintworth GK: Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. Mol Vis. 2003 Dec 22;9:730-4. [PubMed:14735064 ]
  14. Abbruzzese C, Kuhn U, Molina F, Rama P, De Luca M: Novel mutations in the CHST6 gene causing macular corneal dystrophy. Clin Genet. 2004 Feb;65(2):120-5. [PubMed:14984470 ]
  15. Aldave AJ, Yellore VS, Thonar EJ, Udar N, Warren JF, Yoon MK, Cohen EJ, Rapuano CJ, Laibson PR, Margolis TP, Small K: Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Am J Ophthalmol. 2004 Mar;137(3):465-73. [PubMed:15013869 ]
  16. El-Ashry MF, Abd El-Aziz MM, Shalaby O, Wilkins S, Poopalasundaram S, Cheetham M, Tuft SJ, Hardcastle AJ, Bhattacharya SS, Ebenezer ND: Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. Am J Ophthalmol. 2005 Jan;139(1):192-3. [PubMed:15652851 ]