Homo sapiens Gene: CHST6
Summary
InnateDB Gene IDBG-42555.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHST6
Gene Name carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
Synonyms MCDC1;
Species Homo sapiens
Ensembl Gene ENSG00000183196
Encoded Proteins
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
Protein Structure
Entrez Gene
Summary The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:75472052-75495384
Strand Reverse strand
Band q23.1
Transcripts
ENST00000332272 ENSP00000328983
ENST00000390664 ENSP00000375079
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
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
Keratan sulfate biosynthesis pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9GZX3
TrEMBL
UniProt Splice Variant
Entrez Gene 4166
UniGene Hs.655622
RefSeq NM_021615 XM_005255955
HUGO HGNC:6938
OMIM 605294
CCDS CCDS10918
HPRD 05597
IMGT
EMBL AF219990 AF219991 AF280086 BC074834 BC074883 CH471114
GenPept AAG26325 AAG26327 AAG48244 AAH74834 AAH74883 EAW95640 EAW95641
ImmGen CHST6 (murine)
RNA Seq Atlas 4166