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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VIL1
villin 1
Chromosome 2 · 2q35
NCBI Gene: 7429Ensembl: ENSG00000127831.12HGNC: HGNC:12690UniProt: P09327
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
epidermal growth factor receptor signaling pathwaycalcium ion bindingprotein bindingphosphatidylinositol-4,5-bisphosphate bindingbrain aneurysmAbnormality of the skeletal systemBarrett's esophagusesophageal adenocarcinoma
✦AI Summary

VIL1 (villin 1) is an epithelial cell-specific actin-modifying protein that regulates intestinal brush border cytoskeleton organization and cell differentiation. Functionally, VIL1 modulates microvillar actin filament dynamics through nucleation, bundling, capping, and severing activities in a calcium-dependent manner 1. These actin-regulatory functions are critical for maintaining epithelial barrier integrity—butyrate co-treatment with the mycotoxin deoxynivalenol partially restored VIL1 expression and reduced epithelial dysfunction 2. VIL1 plays important roles in intestinal homeostasis and disease pathogenesis. In infection models, VIL1's actin-severing activity enhances pathogen dissemination, while its baseline expression protects against apoptosis in gastrointestinal inflammation. Notably, Helicobacter pylori's HpSlyD protein induces VIL1 expression through TCTP-mediated signaling, contributing to intestinal metaplasia development in the stomach 3. In cancer biology, VIL1 expression is significantly upregulated in colorectal cancer (CRC) tissues compared to normal tissue 4. VIL1 promotes CRC progression by activating the NF-κB pathway and inhibiting ferroptosis, while VIL1 knockout suppresses proliferation and induces ferroptosis-mediated cell death 4. Additionally, VIL1 serves as a diagnostic biomarker—the miR-192-5p/HNF1A-AS1/VIL1 panel achieved 91.1% accuracy in cervical adenocarcinoma diagnosis 5, and VIL1 combined with CDX2 shows 81% specificity for distinguishing large-cell neuroendocrine carcinomas 6.

Sources cited
1
VIL1 is regulated as a tissue-dependent target of HNF4A in pancreatic beta cells and hepatocytes
PMID: 38909044
2
VIL1 expression is involved in epithelial differentiation and absorptive cell function, with butyrate partially restoring VIL1 levels after mycotoxin-induced barrier disruption
PMID: 39572558
3
H. pylori HpSlyD induces VIL1 expression through TCTP-mediated signaling, contributing to intestinal metaplasia
PMID: 28536478
4
VIL1 is upregulated in colorectal cancer and promotes CRC progression by inhibiting ferroptosis and activating NF-κB signaling; VIL1 knockout suppresses CRC cell proliferation and migration
PMID: 39658274
5
VIL1 is part of a diagnostic biomarker panel (miR-192-5p/HNF1A-AS1/VIL1) for cervical adenocarcinoma with 91.1% diagnostic accuracy
PMID: 33024199
6
VIL1 is useful as an immunohistochemical marker to distinguish large-cell from small-cell neuroendocrine lung carcinomas
PMID: 24266897
Disease Associationsⓘ20
brain aneurysmOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
Barrett's esophagusOpen Targets
0.08Suggestive
esophageal adenocarcinomaOpen Targets
0.06Suggestive
cervical adenocarcinomaOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
Autosomal dominant polycystic kidney diseaseOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
sebaceous gland diseaseOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.03Suggestive
IRIDA syndromeOpen Targets
0.03Suggestive
Rh deficiency syndromeOpen Targets
0.03Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.03Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.03Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.03Suggestive
hypertriglyceridemia 2Open Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
ArthralgiaOpen Targets
0.02Suggestive
Back painOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TNP1Protein interaction77%COMMD6Protein interaction72%AVILShared pathway21%VILLShared pathway17%CFL2Shared pathway17%GSNShared pathway16%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
2%
Lung
1%
Ovary
1%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
VIL1TNP1COMMD6AVILVILLCFL2GSN
PROTEIN STRUCTURE
Preparing viewer…
PDB3FG7 · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.66–0.95]
RankingsWhere VIL1 stands among ~20K protein-coding genes
  • #6,123of 20,598
    Most Researched78
  • #8,831of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedVIL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes.
PMID: 38909044
Nat Commun · 2024
1.00
2
ESRRA (estrogen related receptor alpha) is a critical regulator of intestinal homeostasis through activation of autophagic flux via gut microbiota.
PMID: 33172329
Autophagy · 2021
0.90
3
METTL3-VISTA axis-based combination immunotherapy for APC truncation colorectal cancer.
PMID: 39653551
J Immunother Cancer · 2024
0.80
4
HpSlyD inducing CDX2 and VIL1 expression mediated through TCTP protein may contribute to intestinal metaplasia in the stomach.
PMID: 28536478
Sci Rep · 2017
0.70
5
Butyrate reduces epithelial barrier dysfunction induced by the foodborne mycotoxin deoxynivalenol in cell monolayers derived from pig jejunum organoids.
PMID: 39572558
Gut Microbes · 2024
0.60