TFF1 Gene - Trefoil Factor 1
A key gastric mucosal protective and tumor suppressor gene
Gene Information Card
| Symbol | TFF1 |
|---|---|
| Full Name | Trefoil Factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 7031 ncbi.nlm.nih.gov/gene/7031 |
| Ensembl ID | ENSG00000160182 |
| UniProt ID | P04155 |
| OMIM ID | 113710 |
| HGNC ID | 11755 |
| Aliases | pS2, BCEI, D21S21, HP1.A, HPS2, pNR-2 |
Description
TFF1 (trefoil factor 1) encodes a secreted protein belonging to the trefoil factor family, characterized by a conserved trefoil domain. It is primarily expressed in the gastric mucosa and plays a critical role in mucosal protection, repair, and tumor suppression. TFF1 is also induced by estrogen in breast cancer cells and is a well-known marker for hormone-responsive breast cancer. Loss of TFF1 expression is associated with gastric carcinogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | Loss of TFF1 expression due to promoter methylation or mutation leads to impaired mucosal barrier and increased susceptibility to Helicobacter pylori-induced carcinogenesis. | NCBI Gene, OMIM |
| Breast Cancer | TFF1 is an estrogen-responsive gene; its expression is used as a prognostic marker in estrogen receptor-positive breast cancer. | NCBI Gene, OMIM |
| Peptic Ulcer Disease | Reduced TFF1 levels compromise gastric mucosal integrity, increasing risk of ulcer formation. | NCBI Gene |
| Barrett's Esophagus | Aberrant TFF1 expression is observed in metaplastic epithelium of the esophagus. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 127.8 | High |
| Duodenum | 45.2 | Medium |
| Esophagus | 12.1 | Low |
| Breast | 3.5 | Low |
| Colon | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 85.3 | Estrogen-inducible; high expression |
| KATO III (gastric cancer) | 62.1 | Moderate expression |
| AGS (gastric cancer) | 15.4 | Low expression |
| HeLa (cervical cancer) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; likely loss of function |
| c.64G>A (p.Ala22Thr) | Missense | <0.1% | Unknown significance |
| c.187C>T (p.Arg63Cys) | Missense | <0.1% | Unknown significance |
| Promoter methylation | Epigenetic | Common in gastric cancer | Silencing of TFF1 expression |
Mutation functional classification
Loss of Function (LOF)
Promoter methylation and rare missense variants (e.g., p.Met1?) reduce or abolish TFF1 expression, impairing mucosal protection and promoting gastric carcinogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TFF1.
Dominant Negative (DN)
No dominant-negative mutations have been described for TFF1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Estrogen signaling pathway (Reactome: R-HSA-8939211)
• Gastric cancer - H. pylori infection (KEGG: hsa05226)
• Trefoil factors in mucosal repair (Reactome: R-HSA-375276)
Protein Summary
TFF1 is a 60-amino acid secreted protein containing a single trefoil domain stabilized by three disulfide bonds. It is synthesized as a preproprotein and cleaved to yield the mature peptide. TFF1 forms homodimers and heterodimers with TFF2 and TFF3, contributing to mucosal barrier function, cell migration, and inhibition of apoptosis. In the stomach, TFF1 is co-secreted with mucins and protects against Helicobacter pylori infection. In breast cancer, TFF1 is a classic estrogen-responsive gene and serves as a biomarker for hormone receptor status.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFF1 Knockout HEK293 Cell Line | EDJ-KQ5922 | Human | 7031 | Details Get a Quote |
| TFF1 Knockout A-549 Cell Line | EDJ-KQ29459 | Human | 7031 | Details Get a Quote |
| TFF1 Knockout HeLa Cell Line | EDJ-KQ54644 | Human | 7031 | Details Get a Quote |
| TFF1 Knockout HCT 116 Cell Line | EDJ-KQ71597 | Human | 7031 | Details Get a Quote |
