• Gene id: 4166

Gene Summary

• Gene Symbol: CHST6   Gene   UCSC   Ensembl
• Aliases: C-GlcNAc6ST, GST4-beta, MCDC1, glcNAc6ST-5, gn6st-5, hCGn6ST
• Gene name: carbohydrate sulfotransferase 6
• Alternate names: carbohydrate sulfotransferase 6, N-acetylglucosamine 6-O-sulfotransferase 5, N-acetylglucosamine 6-sulfotransferase, carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6, corneal N-acetylglucosamine 6-sulfotransferase, corneal N-acetylglucosamine-6-O-sulf,
• Gene location: 16q23.1 (75495440: 75472041)     Exons: 6     NC_000016.10
• Gene summary(Entrez): 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). [prov
• OMIM: 605294

Protein Summary

• Protein general information: Q9GZX3  
  • Name: Carbohydrate sulfotransferase 6 (EC 2.8.2. ) (Corneal N acetylglucosamine 6 O sulfotransferase) (C GlcNAc6ST) (hCGn6ST) (Galactose/N acetylglucosamine/N acetylglucosamine 6 O sulfotransferase 4 beta) (GST4 beta) (N acetylglucosamine 6 O sulfotransferase 5
  • Length: 395  
  • Mass: 44099
  • Tissue specificity: Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea. {ECO
• Sequence:

  MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLMEPAWH
  VWTTLSQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDLFQWAVSRALCSPPACSAFPRGAISSEAVCK
  PLCARQSFTLAREACRSYSHVVLKEVRFFNLQVLYPLLSDPALNLRIVHLVRDPRAVLRSREQTAKALARDNGIV
  LGTNGTWVEADPGLRVVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGLSLTPQLE
  AWIHNITHGSGPGARREAFKTSSRNALNVSQAWRHALPFAKIRRVQELCAGALQLLGYRPVYSEDEQRNLALDLV
  LPRGLNGFTWASSTASHPRN

• Structural information:
  • Interpro: IPR016469  IPR027417  IPR000863  
  • STRING: ENSP00000328983
• Other Databases: GeneCards:  CHST6  Malacards:  CHST6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0006044	N-acetylglucosamine metabolic process	IBA	biological process
GO:0018146	keratan sulfate biosynthetic process	IBA	biological process
GO:0001517	N-acetylglucosamine 6-O-sulfotransferase activity	IBA	molecular function
GO:0006790	sulfur compound metabolic process	IBA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0008146	sulfotransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0018146	keratan sulfate biosynthetic process	IDA	biological process
GO:0006044	N-acetylglucosamine metabolic process	IDA	biological process
GO:0001517	N-acetylglucosamine 6-O-sulfotransferase activity	IDA	molecular function
GO:0001517	N-acetylglucosamine 6-O-sulfotransferase activity	IDA	molecular function
GO:0006044	N-acetylglucosamine metabolic process	IC	biological process
GO:0006790	sulfur compound metabolic process	IDA	biological process
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0001517	N-acetylglucosamine 6-O-sulfotransferase activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00533	Glycosaminoglycan biosynthesis - keratan sulfate

Diseases

Associated diseases	References
Macular corneal dystrophy	KEGG:H00954
Macular corneal dystrophy	KEGG:H00954
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq