HS3ST3A1 (heparan sulfate-glucosamine 3-sulfotransferase 3A1)

Gene

• Entrez ID: 9955
• Gene name: Heparan sulfate-glucosamine 3-sulfotransferase 3A1
• Gene symbol: HS3ST3A1
• Synonyms (NCBI Gene): 3-OST-3A, 3OST3A1
• Chromosome: 17
• Chromosome location: 17p12
• Summary: Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049250	hsa-miR-92a-3p	CLASH	23622248
MIRT1054936	hsa-miR-3613-3p	CLIP-seq
MIRT1054937	hsa-miR-4311	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	9988768, 15304505
GO:0008146	Function	Sulfotransferase activity	IEA
GO:0008146	Function	Sulfotransferase activity	TAS	9988767
GO:0008467	Function	[heparan sulfate]-glucosamine 3-sulfotransferase activity	IBA
GO:0008467	Function	[heparan sulfate]-glucosamine 3-sulfotransferase activity	IDA	9988768, 15304505
GO:0008467	Function	[heparan sulfate]-glucosamine 3-sulfotransferase activity	IEA
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:0016020	Component	Membrane	TAS	9988767
GO:0016740	Function	Transferase activity	IEA

Other IDs

• MIM: 604057
• HGNC: 5196
• e!Ensembl: ENSG00000153976

Protein

• UniProt ID: Q9Y663
• Protein name: Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 (EC 2.8.2.30) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1) (3-OST-3A) (Heparan sulfate 3-O-sulfotransferase 3A1) (h3-OST-3A)
• Protein function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate (PubMed:10520990, PubMed:10608887, PubMe
• PDB: 1T8T, 1T8U, 6XKG, 6XL8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00685	Sulfotransfer_1	152 → 399	Sulfotransferase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Most abundant in heart and placenta, followed by liver and kidney. {ECO:0000269|PubMed:9988767}.
• Sequence:

  MAPPGPASALSTSAEPLSRSIFRKFLLMLCSLLTSLYVFYCLAERCQTLSGPVVGLSGGG
  EEAGAPGGGVLAGGPRELAVWPAAAQRKRLLQLPQWRRRRPPAPRDDGEEAAWEEESPGL
  SGGPGGSGAGSTVAEAPPGTLALLLDEGSKQLPQAIIIGVKKGGTRALLEFLRVHPDVRA
  VGAEPHFFDRSYDKGLAWYRDLMPRTLDGQITMEKTPSYFVTREAPARISAMSKDTKLIV
  VVRDPVTRAISDYTQTLSKRPDIPTFESLTFKNRTAGLIDTSWSAIQIGIYAKHLEHWLR
  HFPIRQMLFVSGERLISDPAGELGRVQDFLGLKRIITDKHFYFNKTKGFPCLKKAEGSSR
  PHCLGKTKGRTHPEIDREVVRRLREFYRPFNLKFYQMTGHDFGWDG

• Sequence length: 406

Pathways

KEGG:

Glycosaminoglycan biosynthesis - heparan sulfate / heparin

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	29547633		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	19812376	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29547633		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32062564	Associate	★☆☆☆☆ Found in Text Mining only