VIL1 Gene - Villin 1
Key regulator of actin cytoskeleton in intestinal epithelial cells
Gene Information Card
| Symbol | VIL1 |
|---|---|
| Full Name | Villin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 7429 ncbi.nlm.nih.gov/gene/7429 |
| Ensembl ID | ENSG00000127831 |
| UniProt ID | P09327 |
| OMIM ID | 193040 |
| HGNC ID | 12691 |
| Aliases | VIL, DKFZp686L18127 |
Description
VIL1 encodes villin 1, an actin-binding protein that bundles, caps, and severs actin filaments. It is predominantly expressed in the brush border of intestinal and renal proximal tubule epithelial cells, where it is essential for microvilli formation and maintenance. Villin 1 also participates in signal transduction and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered VIL1 expression correlates with tumor progression and metastasis; loss of villin is associated with epithelial-mesenchymal transition. | PMID: 23454750; COSMIC |
| Gastric cancer | Reduced VIL1 expression linked to poor differentiation and invasive phenotype. | PMID: 19662631 |
| Inflammatory bowel disease | VIL1 downregulation in ulcerative colitis and Crohn's disease may impair intestinal barrier function. | PMID: 21887723 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 123.4 | High |
| Colon | 89.2 | High |
| Kidney | 45.6 | Medium |
| Stomach | 22.1 | Low |
| Liver | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 156.7 | Colorectal adenocarcinoma cell line; high VIL1 expression |
| HT-29 | 98.3 | Colorectal adenocarcinoma cell line; moderate expression |
| HCT 116 | 12.4 | Colorectal carcinoma; low expression due to promoter methylation |
| HEK 293 | 0.8 | Embryonic kidney; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of actin-binding domain |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown; predicted benign by PolyPhen-2 |
| c.890_891insA (p.Gln297fs) | Frameshift | <0.1% | Loss of function; frameshift leads to premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Gln297fs) result in truncated protein lacking actin-severing activity.
Gain of Function (GOF)
No gain-of-function mutations reported in VIL1.
Dominant Negative (DN)
No dominant-negative mutations characterized for VIL1.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin filament binding (GO:0051015) |
| • actin filament severing (GO:0051014) | • actin filament bundle assembly (GO:0051017) |
| • microvillus assembly (GO:0030038) | • cell-cell junction maintenance (GO:0045216) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Apoptosis (KEGG: hsa04210)
• Epithelial cell signaling in Helicobacter pylori infection (KEGG: hsa05120)
Protein Summary
Villin 1 is a 92.5 kDa protein composed of 826 amino acids. It contains a core domain with three gelsolin-like repeats and a headpiece domain. The protein binds actin filaments in a calcium-dependent manner, promoting bundling at low calcium and severing at high calcium. Villin 1 is a marker of differentiated enterocytes and is frequently downregulated in colorectal cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VIL1 Knockout HEK293 Cell Line | EDJ-KQ3560 | Human | 7429 | Details Get a Quote |
| VIL1 Knockout HCT 116 Cell Line | EDJ-KQ24050 | Human | 7429 | Details Get a Quote |
| VIL1 Knockout A-549 Cell Line | EDJ-KQ25426 | Human | 7429 | Details Get a Quote |
| VIL1 Knockout HeLa Cell Line | EDJ-KQ25428 | Human | 7429 | Details Get a Quote |
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