• Gene id: 9394

Gene Summary

• Gene Symbol: HS6ST1   Gene   UCSC   Ensembl
• Aliases: HH15, HS6ST
• Gene name: heparan sulfate 6-O-sulfotransferase 1
• Alternate names: heparan-sulfate 6-O-sulfotransferase 1, HS6ST-1, heparan-sulfate 6-sulfotransferase,
• Gene location: 2q14.3 (128318867: 128265479)     Exons: 2     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological a
• OMIM: 603801

Protein Summary

• Protein general information: O60243  
  • Name: Heparan sulfate 6 O sulfotransferase 1 (HS6ST 1) (EC 2.8.2. )
  • Length: 411  
  • Mass: 48226
  • Tissue specificity: Expressed in fetal brain. {ECO
• Sequence:

  MRRRRAGGRTMVERASKFVLVVAGSVCFMLILYQYAGPGLSLGAPGGRAPPDDLDLFPTPDPHYEKKYYFPVREL
  ERSLRFDMKGDDVIVFLHIQKTGGTTFGRHLVQNVRLEVPCDCRPGQKKCTCYRPNRRETWLFSRFSTGWSCGLH
  ADWTELTNCVPGVLDRRDSAALRTPRKFYYITLLRDPVSRYLSEWRHVQRGATWKTSLHMCDGRTPTPEELPPCY
  EGTDWSGCTLQEFMDCPYNLANNRQVRMLADLSLVGCYNLSFIPEGKRAQLLLESAKKNLRGMAFFGLTEFQRKT
  QYLFERTFNLKFIRPFMQYNSTRAGGVEVDEDTIRRIEELNDLDMQLYDYAKDLFQQRYQYKRQLERREQRLRSR
  EERLLHRAKEALPREDADEPGRVPTEDYMSHIIEKW

• Structural information:
  • Interpro: IPR010635  IPR027417  IPR005331  
  • STRING: ENSP00000259241
• Other Databases: GeneCards:  HS6ST1  Malacards:  HS6ST1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015015	heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IBA	biological process
GO:0017095	heparan sulfate 6-O-sulfotransferase activity	IBA	molecular function
GO:0048666	neuron development	IMP	biological process
GO:0008146	sulfotransferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008146	sulfotransferase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0015015	heparan sulfate proteoglycan biosynthetic process, enzymatic modification	TAS	biological process
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0017095	heparan sulfate 6-O-sulfotransferase activity	IEA	molecular function
GO:0015015	heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Diseases

Associated diseases	References
Hypogonadotropic hypogonadism	KEGG:H00255
Hypogonadotropic hypogonadism	KEGG:H00255
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq