• Gene id: 113189

Gene Summary

• Gene Symbol: CHST14   Gene   UCSC   Ensembl
• Aliases: ATCS, D4ST1, EDSMC1, HNK1ST
• Gene name: carbohydrate sulfotransferase 14
• Alternate names: carbohydrate sulfotransferase 14, carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14, carbohydrate (dermatan 4) sulfotransferase 14, dermatan 4 sulfotransferase 1,
• Gene location: 15q15.1 (40470983: 40473157)     Exons: 1     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot
• OMIM: 607256

Protein Summary

• Protein general information: Q8NCH0  
  • Name: Carbohydrate sulfotransferase 14 (EC 2.8.2.35) (Dermatan 4 sulfotransferase 1) (D4ST 1) (hD4ST1)
  • Length: 376  
  • Mass: 42997
  • Tissue specificity: Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid. {ECO
• Sequence:

  MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSMLMFAVIVASSGLLLMIERGILAEMKPLPLHP
  PGREGTAWRGKAPKPGGLSLRAGDADLQVRQDVRNRTLRAVCGQPGMPRDPWDLPVGQRRTLLRHILVSDRYRFL
  YCYVPKVACSNWKRVMKVLAGVLDSVDVRLKMDHRSDLVFLADLRPEEIRYRLQHYFKFLFVREPLERLLSAYRN
  KFGEIREYQQRYGAEIVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPERMNEHWMPVYHLCQPCAVHYDFVGSYE
  RLEADANQVLEWVRAPPHVRFPARQAWYRPASPESLHYHLCSAPRALLQDVLPKYILDFSLFAYPLPNVTKEACQ
  Q

• Structural information:
  • Interpro: IPR018011  IPR005331  
  • STRING: ENSP00000307297
• Other Databases: GeneCards:  CHST14  Malacards:  CHST14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008146	sulfotransferase activity	IBA	molecular function
GO:0050655	dermatan sulfate proteoglycan metabolic process	IBA	biological process
GO:0008146	sulfotransferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016051	carbohydrate biosynthetic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030208	dermatan sulfate biosynthetic process	IDA	biological process
GO:0001537	N-acetylgalactosamine 4-O-sulfotransferase activity	IDA	molecular function
GO:0001537	N-acetylgalactosamine 4-O-sulfotransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030208	dermatan sulfate biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0001537	N-acetylgalactosamine 4-O-sulfotransferase activity	IDA	molecular function
GO:0050655	dermatan sulfate proteoglycan metabolic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042301	phosphate ion binding	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
Ehlers-Danlos syndrome musculocontractural type	KEGG:H02246
Ehlers-Danlos syndrome musculocontractural type	KEGG:H02246
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881