HS3ST6 (heparan sulfate-glucosamine 3-sulfotransferase 6)

Gene

• Entrez ID: 64711
• Gene name: Heparan sulfate-glucosamine 3-sulfotransferase 6
• Gene symbol: HS3ST6
• Synonyms (NCBI Gene): 3-OST-6, 3OST6, HAE8, HS3ST5
• Chromosome: 16
• Chromosome location: 16p13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2012501	hsa-miR-1913	CLIP-seq
MIRT2012502	hsa-miR-3183	CLIP-seq
MIRT2012503	hsa-miR-324-3p	CLIP-seq
MIRT2012504	hsa-miR-4723-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001835	Process	Blastocyst hatching	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0008146	Function	Sulfotransferase activity	IEA
GO:0008467	Function	[heparan sulfate]-glucosamine 3-sulfotransferase activity	IBA
GO:0008467	Function	[heparan sulfate]-glucosamine 3-sulfotransferase activity	IEA
GO:0008467	Function	[heparan sulfate]-glucosamine 3-sulfotransferase activity	ISS
GO:0008467	Function	[heparan sulfate]-glucosamine 3-sulfotransferase activity	TAS
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA

Other IDs

• MIM: 619210
• HGNC: 14178
• e!Ensembl: ENSG00000162040

Protein

• UniProt ID: Q96QI5
• Protein name: Heparan sulfate glucosamine 3-O-sulfotransferase 6 (EC 2.8.2.23) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 6) (3-OST-6) (Heparan sulfate 3-O-sulfotransferase 6) (h3-OST-6)
• Protein function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor t
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00685	Sulfotransfer_1	90 → 336	Sulfotransferase domain	Domain

• Sequence:

  MAGSGGLGGGAGGGQGAGAGQGAALRASRAPMLLVALVLGAYCLCALPGRCPPAARAPAP
  APAPSEPSSSVHRPGAPGLPLASGPGRRRFPQALIVGVKKGGTRALLEFLRLHPDVRALG
  SEPHFFDRCYERGLAWYRSLMPRTLDGQITMEKTPSYFVTREAPRRIHAMSPDTKLIVVV
  RNPVTRAISDYAQTLSKTPGLPSFRALAFRHGLGPVDTAWSAVRIGLYAQHLDHWLRYFP
  LSHFLFVSGERLVSDPAGEVGRVQDFLGLKRVVTDKHFYFNATKGFPCLKKAQGGSRPRC
  LGKSKGRPHPRVPQALVRRLQEFYRPFNRRFYQMTGQDFGWG

• Sequence length: 342

Pathways

Reactome:

HS-GAG biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Angioedema, hereditary, 8	Pathogenic	rs746467957	RCV001507298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANGIOEDEMAS, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA WITH NORMAL C1INH NOT RELATED TO F12 OR PLG VARIANT	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Angioedemas Hereditary	Associate	33799813, 36787826	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Associate	19011014	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Associate	36787826	★☆☆☆☆ Found in Text Mining only