Version 5.4
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
IDBP-42557
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
IDBP-42576
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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
ENSMUSG00000031952
View Gene Order
ENSBTAG00000040000
Not yet available
Pathways
NETPATH
REACTOME
REACT_121120
Keratan sulfate biosynthesis pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_121288
Keratan sulfate/keratin metabolism pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00533
Glycosaminoglycan biosynthesis pathway
INOH
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
RNA Seq Atlas 4166

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca