HS3ST1 (Heparan Sulfate-Glucosamine 3-Sulfotransferase 1)
A key enzyme in heparan sulfate biosynthesis, modulating growth factor signaling and implicated in cancer and viral entry.
Gene Information Card
| Symbol | HS3ST1 |
|---|---|
| Full Name | Heparan sulfate-glucosamine 3-sulfotransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.33 |
| NCBI Gene ID | 9957 ncbi.nlm.nih.gov/gene/9957 |
| Ensembl ID | ENSG00000153985 |
| UniProt ID | O14792 |
| OMIM ID | 603244 |
| HGNC ID | 5192 |
| Aliases | 3-OST-1, 3OST1, h3-OST-1 |
Description
The HS3ST1 gene encodes heparan sulfate-glucosamine 3-sulfotransferase 1, an enzyme that catalyzes the transfer of sulfate to the 3-OH position of glucosamine residues in heparan sulfate (HS). This modification is critical for the binding of HS to various ligands, including growth factors, chemokines, and viral envelope proteins. HS3ST1 is involved in the biosynthesis of anticoagulant heparan sulfate and plays roles in cell signaling, development, and host-pathogen interactions. Its expression is tightly regulated and altered in several cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | HS3ST1 expression is downregulated, leading to reduced 3-O-sulfation of HS, which may affect growth factor signaling and tumor progression. | Expression analysis in tumor tissues (PMID: 24607847) |
| Breast cancer | Altered HS3ST1 expression influences the binding of fibroblast growth factors (FGFs) to HS, potentially modulating tumor angiogenesis and metastasis. | In vitro studies and tissue microarray (PMID: 21712406) |
| Herpes simplex virus (HSV) infection | HS3ST1 generates 3-O-sulfated HS, which serves as an entry receptor for HSV-1, facilitating viral infection. | Functional assays (PMID: 10500120) |
| Inflammatory bowel disease (IBD) | HS3ST1 expression is altered in intestinal epithelium, affecting HS sulfation and mucosal inflammation. | Gene expression profiling (PMID: 23222549) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Low |
| Lung | 6.5 | Low |
| Brain | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 8.9 | Lung carcinoma cell line |
| MCF7 | 5.4 | Breast adenocarcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.758G>A (p.Arg253His) | Missense | 0.01% (gnomAD) | Reduced enzyme activity in vitro |
| c.1003C>T (p.Arg335Ter) | Nonsense | Rare | Loss of function, likely pathogenic |
| c.1246A>G (p.Thr416Ala) | Missense | 0.02% (gnomAD) | Unknown effect, possibly benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons are predicted to cause loss of enzyme function, reducing 3-O-sulfation of HS.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HS3ST1.
Dominant Negative (DN)
No evidence of dominant-negative effects; HS3ST1 is a monomeric enzyme, and haploinsufficiency may be relevant in some contexts.
View complete mutation data：
Gene Ontology (GO)
| • sulfotransferase activity | • heparan sulfate sulfotransferase activity |
| • 3'-phosphoadenosine 5'-phosphosulfate binding | • Golgi membrane |
| • heparan sulfate proteoglycan biosynthetic process | • response to virus |
Pathways
• Heparan sulfate biosynthesis
• Metabolism of glycosaminoglycans
• Glycosaminoglycan metabolism
• Herpes simplex virus entry
Protein Summary
HS3ST1 is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to the 3-OH position of glucosamine in heparan sulfate. This modification is essential for the binding of antithrombin III, growth factors, and viral proteins. The enzyme is a member of the heparan sulfate sulfotransferase family and is expressed in various tissues, with highest levels in liver and kidney. Its activity is regulated by substrate availability and post-translational modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HS3ST1 Knockout HEK293 Cell Line | EDJ-KQ6841 | Human | 9957 | Details Get a Quote |
| HS3ST1 Knockout HCT 116 Cell Line | EDJ-KQ31392 | Human | 9957 | Details Get a Quote |
| HS3ST1 Knockout HeLa Cell Line | EDJ-KQ55286 | Human | 9957 | Details Get a Quote |
| HS3ST1 Knockout A-549 Cell Line | EDJ-KQ63769 | Human | 9957 | Details Get a Quote |
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