MTSS1: Metastasis Suppressor 1 – A Key Regulator of Cell Migration and Cancer Invasion
Comprehensive genomic and functional overview of MTSS1, a metastasis suppressor gene implicated in multiple cancers and developmental processes.
Gene Information Card
| Symbol | MTSS1 |
|---|---|
| Full Name | Metastasis Suppressor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 9788 ncbi.nlm.nih.gov/gene/9788 |
| Ensembl ID | ENSG00000170873 |
| UniProt ID | O43312 |
| OMIM ID | 608486 |
| HGNC ID | 20473 |
| Aliases | MIM, MIM-B, KIAA0429, MTSS1L |
Description
MTSS1 (metastasis suppressor 1) encodes a protein that regulates actin dynamics, cell migration, and invasion. It acts as a tumor suppressor in various cancers by inhibiting metastasis through modulation of cytoskeletal reorganization and signaling pathways. MTSS1 is also involved in developmental processes such as neurite outgrowth and epithelial morphogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder Cancer | Loss of MTSS1 expression promotes invasion and metastasis | ClinVar, NCBI Gene |
| Breast Cancer | Reduced MTSS1 correlates with poor prognosis and increased metastatic potential | NCBI Gene, OMIM |
| Hepatocellular Carcinoma | MTSS1 downregulation enhances cell migration and invasion | NCBI Gene |
| Gastric Cancer | MTSS1 silencing via promoter methylation associated with metastasis | NCBI Gene |
| Prostate Cancer | MTSS1 loss linked to aggressive disease and metastasis | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.4 | High |
| Spleen | 9.7 | Low |
| Heart | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.3 | Embryonic kidney cells |
| HeLa | 12.1 | Cervical cancer cells |
| MCF7 | 8.5 | Breast cancer cells |
| A549 | 6.9 | Lung cancer cells |
| HepG2 | 5.4 | Liver cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Ter) | Nonsense | Rare | Loss of function; truncated protein |
| c.1426G>A (p.Glu476Lys) | Missense | Rare | Unknown functional impact |
| c.1870_1871del (p.Leu624fs) | Frameshift | Rare | Loss of function |
| c.214A>G (p.Thr72Ala) | Missense | Rare | Possibly benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg335Ter, p.Leu624fs) result in truncated or unstable protein, reducing metastasis suppressor activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MTSS1.
Dominant Negative (DN)
No dominant-negative mutations currently documented for MTSS1.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• RAC1 GTPase cycle (Reactome: R-HSA-9012999)
Protein Summary
The MTSS1 protein (UniProt O43312) is a 759-amino acid metastasis suppressor that localizes to the cytoplasm and plasma membrane. It contains an I-BAR domain that binds phosphoinositides and promotes membrane curvature, and an SH3 domain that mediates protein-protein interactions. MTSS1 regulates actin dynamics by interacting with Rac1 and other Rho GTPases, thereby controlling cell migration, invasion, and adhesion. Its loss is frequently observed in metastatic cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTSS1 Knockout HEK293 Cell Line | EDJ-KQ3559 | Human | 9788 | Details Get a Quote |
| MTSS1 Knockout A-549 Cell Line | EDJ-KQ25423 | Human | 9788 | Details Get a Quote |
| MTSS1 Knockout HCT 116 Cell Line | EDJ-KQ25424 | Human | 9788 | Details Get a Quote |
| MTSS1 Knockout HeLa Cell Line | EDJ-KQ25425 | Human | 9788 | Details Get a Quote |