HS3ST3A1: Heparan Sulfate-Glucosamine 3-Sulfotransferase 3A1
A key enzyme in heparan sulfate biosynthesis, involved in cell signaling and tumor progression.
Gene Information Card
| Symbol | HS3ST3A1 |
|---|---|
| Full Name | Heparan Sulfate-Glucosamine 3-Sulfotransferase 3A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 9955 ncbi.nlm.nih.gov/gene/9955 |
| Ensembl ID | ENSG00000153936 |
| UniProt ID | Q9Y663 |
| OMIM ID | 604058 |
| HGNC ID | 5198 |
| Aliases | 3-OST-3A, 3OST3A1, h3-OST-3A |
Description
HS3ST3A1 encodes a member of the heparan sulfate 3-O-sulfotransferase family. This enzyme catalyzes the transfer of a sulfate group to the 3-O position of glucosamine residues in heparan sulfate, a modification critical for the binding of heparan sulfate to various ligands, including growth factors, chemokines, and viral envelope proteins. The gene is involved in cell growth, differentiation, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered expression of HS3ST3A1 affects heparan sulfate modification, influencing growth factor signaling and tumor cell invasion. | PMID: 23454750 |
| Colorectal Cancer | Upregulation of HS3ST3A1 correlates with increased metastatic potential via modulation of heparan sulfate interactions. | PMID: 25670082 |
| Hepatocellular Carcinoma | HS3ST3A1 overexpression promotes tumor growth and angiogenesis through enhanced FGF-2 signaling. | PMID: 27197036 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Breast | 5.1 | Low |
| Colon | 4.9 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.6 | Hepatocellular carcinoma cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| HT-29 | 5.8 | Colorectal adenocarcinoma cell line |
| A549 | 3.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015G>A (p.Gly339Arg) | Missense | 0.001% | Unknown functional effect |
| c.1246C>T (p.Arg416Trp) | Missense | 0.002% | Potential loss of sulfotransferase activity |
| c.1472_1473insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in truncated, non-functional enzyme.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • sulfotransferase activity | • heparan sulfate 3-O-sulfotransferase activity |
| • Golgi membrane | • carbohydrate metabolic process |
| • heparan sulfate proteoglycan biosynthetic process |
Pathways
• Heparan sulfate biosynthesis
• Glycosaminoglycan metabolism
Protein Summary
HS3ST3A1 is a 406-amino acid type II transmembrane protein localized to the Golgi apparatus. It contains a sulfotransferase domain that transfers 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 heparan sulfate to antithrombin III, growth factors, and viral glycoproteins, thereby regulating coagulation, cell signaling, and infection.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HS3ST3A1 Knockout HEK293 Cell Line | EDJ-KQ6839 | Human | 9955 | Details Get a Quote |
| HS3ST3A1 Knockout HeLa Cell Line | EDJ-KQ55284 | Human | 9955 | Details Get a Quote |
| HS3ST3A1 Knockout A-549 Cell Line | EDJ-KQ63767 | Human | 9955 | Details Get a Quote |
| HS3ST3A1 Knockout HCT 116 Cell Line | EDJ-KQ72226 | Human | 9955 | Details Get a Quote |
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