HS3ST5 Gene: Heparan Sulfate 3-O-Sulfotransferase 5
Genetic and functional insights into HS3ST5, a key enzyme in heparan sulfate biosynthesis, with implications in cancer and developmental biology.
Gene Information Card
| Symbol | HS3ST5 |
|---|---|
| Full Name | Heparan sulfate 3-O-sulfotransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 222537 ncbi.nlm.nih.gov/gene/222537 |
| Ensembl ID | ENSG00000112658 |
| UniProt ID | Q8IUB4 |
| OMIM ID | 610794 |
| HGNC ID | 19117 |
| Aliases | 3-OST-5, 3OST5 |
Description
HS3ST5 encodes a member of the heparan sulfate 3-O-sulfotransferase family. This enzyme catalyzes the transfer of sulfate to the 3-OH position of glucosamine residues in heparan sulfate, a critical modification that influences the binding of various ligands, including growth factors and anticoagulant proteins. HS3ST5 is involved in the biosynthesis of heparan sulfate with specific sulfation patterns, impacting cell signaling and development. Its expression is often altered in cancer, suggesting a role in tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered HS3ST5 expression may affect heparan sulfate modification, influencing growth factor signaling and tumor progression. | Expression studies in tumor tissues (COSMIC, literature) |
| Breast cancer | Differential expression of HS3ST5 may modulate the tumor microenvironment and metastatic potential. | Gene expression profiling (COSMIC, literature) |
| Colorectal cancer | HS3ST5 methylation or expression changes could impact Wnt signaling via heparan sulfate proteoglycans. | Epigenetic and expression studies (COSMIC, literature) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | Not available | Low expression (based on GTEx-like data, not directly from NCBI) |
| Brain | Not available | Moderate expression in specific regions (based on literature) |
| Kidney | Not available | Low expression (based on literature) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | Not available | Hepatocellular carcinoma cell line; expression may be altered |
| MCF7 | Not available | Breast cancer cell line; expression may be altered |
| HCT116 | Not available | Colorectal cancer cell line; expression may be altered |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | Rare (population databases) | Potential effect on enzyme activity; not well characterized |
| c.567C>T (p.Pro189Leu) | Missense | Rare (population databases) | Unknown functional impact |
| c.890_891del (p.Leu297fs) | Frameshift | Rare (COSMIC) | Likely loss of function due to truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of enzyme activity, potentially altering heparan sulfate sulfation patterns.
Gain of Function (GOF)
No evidence for gain-of-function mutations; overexpression may occur in some cancers but not due to mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • sulfotransferase activity | • heparan sulfate 3-O-sulfotransferase activity |
| • 3'-phosphoadenosine 5'-phosphosulfate binding | • Golgi membrane |
| • heparan sulfate proteoglycan biosynthetic process |
Pathways
• Heparan sulfate biosynthesis
• Glycosaminoglycan metabolism
• Signaling by heparan sulfate proteoglycans
Protein Summary
HS3ST5 is a type II membrane protein localized to the Golgi apparatus. It is a member of the heparan sulfate 3-O-sulfotransferase family, which adds sulfate groups to the 3-OH position of glucosamine residues in heparan sulfate. This modification is crucial for the binding of various ligands, including fibroblast growth factors and antithrombin III. HS3ST5 has a molecular mass of approximately 42 kDa and contains a sulfotransferase domain. Its expression is tissue-specific and often dysregulated in cancer, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HS3ST5 Knockout HEK293 Cell Line | EDJ-KQ9018 | Human | 222537 | Details Get a Quote |
| HS3ST5 Knockout HeLa Cell Line | EDJ-KQ59188 | Human | 222537 | Details Get a Quote |
| HS3ST5 Knockout A-549 Cell Line | EDJ-KQ67657 | Human | 222537 | Details Get a Quote |
| HS3ST5 Knockout HCT 116 Cell Line | EDJ-KQ76044 | Human | 222537 | Details Get a Quote |
