InnateDB Protein
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IDBP-42557.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CHST6
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Protein Name
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carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
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Synonyms
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MCDC1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000328983
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InnateDB Gene
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IDBG-42555 (CHST6)
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Protein Structure
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Function |
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze 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. {ECO:0000269PubMed:11352640, ECO:0000269PubMed:12218059}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
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Disease Associations |
Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]: An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined. {ECO:0000269PubMed:11017086, ECO:0000269PubMed:11139648, ECO:0000269PubMed:11818380, ECO:0000269PubMed:12218059, ECO:0000269PubMed:12824236, ECO:0000269PubMed:12882769, ECO:0000269PubMed:12882775, ECO:0000269PubMed:12883341, ECO:0000269PubMed:14609920, ECO:0000269PubMed:14735064, ECO:0000269PubMed:14984470, ECO:0000269PubMed:15013869, ECO:0000269PubMed:15652851}. Note=The disease is caused by mutations affecting the gene represented in this entry. CHST6 homozygous missense mutations have been observed in patients with macular corneal dystrophy type I, while type II patients show a large deletion and replacement in the upstream region of CHST6. The only missense mutation for type II is Cys-50, which is heterozygous with a replacement in the upstream region on the other allele of CHST6.
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Tissue Specificity |
Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea. {ECO:0000269PubMed:11017086, ECO:0000269PubMed:11181564, ECO:0000269PubMed:11352640}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
Accession |
GO Term |
GO:0001517
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N-acetylglucosamine 6-O-sulfotransferase activity
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GO:0008146
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sulfotransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000863
Sulfotransferase domain
IPR016469
Carbohydrate sulfotransferase
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF00685
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PRINTS |
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PIRSF |
PIRSF005883
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9GZX3
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PhosphoSite |
PhosphoSite-Q9GZX3
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
4166
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UniGene |
Hs.655622
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RefSeq |
NP_067628
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HUGO |
HGNC:6938
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OMIM |
605294
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CCDS |
CCDS10918
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HPRD |
05597
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IMGT |
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EMBL |
AF219990
AF219991
AF280086
BC074834
BC074883
CH471114
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GenPept |
AAG26325
AAG26327
AAG48244
AAH74834
AAH74883
EAW95640
EAW95641
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