HS3ST3B1 Gene - Heparan Sulfate-Glucosamine 3-Sulfotransferase 3B1
Comprehensive gene card for HS3ST3B1: genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | HS3ST3B1 |
|---|---|
| Full Name | heparan sulfate-glucosamine 3-sulfotransferase 3B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 9953 ncbi.nlm.nih.gov/gene/9953 |
| Ensembl ID | ENSG00000125484 |
| UniProt ID | Q9Y662 |
| OMIM ID | 604058 |
| HGNC ID | 5195 |
| Aliases | 3-OST-3B, 3OST3B1, h3-OST-3B |
Description
HS3ST3B1 encodes a member of the heparan sulfate sulfotransferase family. This enzyme catalyzes the 3-O-sulfation of glucosamine residues in heparan sulfate, a modification critical for heparan sulfate binding to proteins such as antithrombin III and growth factors. The gene is involved in the biosynthesis of heparan sulfate proteoglycans and plays roles in cell signaling, angiogenesis, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered heparan sulfate sulfation may affect growth factor signaling and metastasis | COSMIC; PMID: 23535731 |
| Colorectal cancer | Dysregulated expression of HS3ST3B1 influences tumor cell adhesion and invasion | COSMIC; PMID: 25344691 |
| Hepatocellular carcinoma | HS3ST3B1 upregulation associated with poor prognosis and altered Wnt signaling | PMID: 27626308 |
| Ovarian cancer | Expression changes linked to heparan sulfate modification and tumor progression | COSMIC; PMID: 26014226 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Lung | 4.1 | Low |
| Breast | 3.8 | Low |
| Colon | 5.9 | Medium |
| Ovary | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.3 | Hepatocellular carcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 5.1 | Lung carcinoma cell line |
| HT-29 | 9.4 | Colorectal adenocarcinoma cell line |
| SK-OV-3 | 6.2 | Ovarian cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.421C>T (p.Arg141Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.638_639insA (p.Gln214fs) | Frameshift insertion | Rare | Predicted loss of function |
| c.784G>T (p.Glu262*) | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Gln214fs, p.Glu262*) are predicted to result in truncated or absent protein, leading to loss of sulfotransferase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HS3ST3B1.
Dominant Negative (DN)
No dominant-negative mutations have been described for HS3ST3B1.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517) | • sulfotransferase activity (GO:0008146) |
| • heparan sulfate proteoglycan biosynthetic process (GO:0015014) | • galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018) |
| • glycosaminoglycan metabolic process (GO:0030203) | • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• Heparan sulfate biosynthesis (Reactome: R-HSA-2022928)
• Glycosaminoglycan metabolism (Reactome: R-HSA-1630316)
• Sulfation of heparan sulfate (Reactome: R-HSA-2022857)
Protein Summary
HS3ST3B1 is a 406-amino acid type II transmembrane protein localized to the Golgi apparatus. It transfers sulfate from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the 3-OH position of glucosamine residues in heparan sulfate. This modification is essential for the binding of heparan sulfate to antithrombin III and various growth factors, thereby influencing coagulation, cell signaling, and tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HS3ST3B1 Knockout HEK293 Cell Line | EDJ-KQ2343 | Human | 9953 | Details Get a Quote |
| HS3ST3B1 Knockout HCT 116 Cell Line | EDJ-KQ24135 | Human | 9953 | Details Get a Quote |
| HS3ST3B1 Knockout HeLa Cell Line | EDJ-KQ24136 | Human | 9953 | Details Get a Quote |
| HS3ST3B1 Knockout A-549 Cell Line | EDJ-KQ63766 | Human | 9953 | Details Get a Quote |
