InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHST6

Summary

InnateDB Protein

IDBP-42576.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHST6

Protein Name

carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6

Synonyms

MCDC1;

Species

Homo sapiens

Ensembl Protein

ENSP00000375079

InnateDB Gene

IDBG-42555 (CHST6)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.

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.

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}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001517	N-acetylglucosamine 6-O-sulfotransferase activity
GO:0008146	sulfotransferase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006044	N-acetylglucosamine metabolic process
GO:0006790	sulfur compound metabolic process
GO:0018146	keratan sulfate biosynthetic process
GO:0030203	glycosaminoglycan metabolic process
GO:0042339	keratan sulfate metabolic process
GO:0044281	small molecule metabolic process