THBS1 Gene: Thrombospondin 1
Comprehensive genomic and functional overview of THBS1, encoding an extracellular matrix glycoprotein involved in cell adhesion, angiogenesis, and tumor biology.
Gene Information Card
| Symbol | THBS1 |
|---|---|
| Full Name | Thrombospondin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 7057 ncbi.nlm.nih.gov/gene/7057 |
| Ensembl ID | ENSG00000137801 |
| UniProt ID | P07996 |
| OMIM ID | 188060 |
| HGNC ID | 11785 |
| Aliases | TSP1, TSP-1, THBS-1 |
Description
THBS1 (thrombospondin 1) encodes a matricellular glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. It functions as a potent inhibitor of angiogenesis, modulates immune responses, and plays roles in wound healing, platelet aggregation, and tumor progression. The protein is a homotrimer that binds to various receptors including CD36, CD47, and integrins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | Altered THBS1 expression affects vascular remodeling and platelet aggregation | PMID: 10618347 |
| Diabetic nephropathy | THBS1 upregulation contributes to mesangial matrix expansion and fibrosis | PMID: 15623614 |
| Various cancers (e.g., breast, lung, colon) | THBS1 inhibits angiogenesis via CD36; loss of expression promotes tumor growth | PMID: 10618347, 15623614 |
| Glaucoma | THBS1 polymorphisms associated with increased intraocular pressure | PMID: 15623614 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 15.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.7 | High expression |
| HeLa | 9.2 | Moderate expression |
| MCF7 | 5.1 | Low expression |
| A549 | 12.3 | Moderate expression |
| HUVEC | 22.5 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1120G>A (p.Gly374Arg) | Missense | <0.01% | Unknown functional impact |
| c.1748C>T (p.Thr583Met) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
| c.2260G>A (p.Gly754Ser) | Missense | <0.01% | Associated with altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Gly374Arg) may reduce protein secretion or binding to CD36, impairing anti-angiogenic activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in THBS1.
Dominant Negative (DN)
No dominant-negative mutations described for THBS1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• CD36-mediated anti-angiogenic signaling (Reactome: R-HSA-210990)
• TGF-beta signaling pathway (KEGG: hsa04350)
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
Protein Summary
Thrombospondin 1 (TSP1) is a 1290-amino-acid homotrimeric glycoprotein with multiple domains: N-terminal heparin-binding domain, procollagen homology domain, type I (properdin-like) repeats, type II (EGF-like) repeats, type III (calcium-binding) repeats, and a C-terminal domain. It is secreted into the extracellular matrix and interacts with CD36, CD47, integrins, and proteoglycans to regulate cell adhesion, migration, and angiogenesis. TSP1 is a major endogenous inhibitor of angiogenesis and modulates immune cell function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THBS1 Knockout HEK293 Cell Line | EDJ-KQ127 | Human | 7057 | Details Get a Quote |
| THBS1 Knockout A-549 Cell Line | EDJ-KQ18668 | Human | 7057 | Details Get a Quote |
| THBS1 Knockout HCT 116 Cell Line | EDJ-KQ18670 | Human | 7057 | Details Get a Quote |
| THBS1 Knockout HeLa Cell Line | EDJ-KQ18671 | Human | 7057 | Details Get a Quote |
