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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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VEPH1
ventricular zone expressed PH domain containing 1
Chromosome 3 · 3q25.31-q25.32
NCBI Gene: 79674Ensembl: ENSG00000197415.13HGNC: HGNC:25735UniProt: Q14D04
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of transforming growth factor beta receptor signaling pathwayprotein bindingnegative regulation of SMAD protein signal transductionplasma membranealcohol drinkingsialadenitisandrogenetic alopeciaHydrocephalus
✦AI Summary

VEPH1 is an evolutionarily conserved adaptor protein that negatively regulates multiple signaling pathways critical to cancer progression and development 1. Its primary function involves inhibiting TGF-β signaling by interacting with TGFBR1 and preventing SMAD2 nuclear accumulation 2, though it also modulates FOXO, Hippo, and Wnt signaling pathways 1. Mechanistically, VEPH1 operates through diverse protein-protein interactions. It binds directly to TSC1/TSC2 complexes, enhancing their association and promoting mTORC1 pathway inhibition 3. Additionally, VEPH1 interacts with ERBB2's kinase domain to modulate EGF signaling 4, and associates with androgen receptor to suppress SMAD3 and AKT activation in ovarian cancer 5. Through AKT inhibition, VEPH1 decreases VEGFA and IL8 expression, reducing tumor vascularization 6. VEPH1 frequently shows reduced expression in hepatocellular carcinoma and cutaneous melanoma, correlating with poor prognosis and aggressive phenotypes 32. In melanoma, VEPH1 overexpression suppresses epithelial-mesenchymal transition and tumor progression 2. Recent evidence implicates VEPH1 hypomethylation in developmental language disorder through Wnt signaling dysregulation 7, expanding its role beyond cancer biology.

Sources cited
1
VEPH1 overexpression inhibits melanoma EMT, invasion, and migration through TGF-β pathway inactivation
PMID: 31599708
2
VEPH1 is an adaptor protein modulating TGFβ, Hippo, FoxO, and AKT signaling with altered expression in cancer
PMID: 31500637
3
VEPH1 acts as tumor suppressor in HCC by binding TSC1/TSC2 to inhibit mTORC1 signaling; frequently silenced in HCC tissues
PMID: 32610114
4
VEPH1 interacts with androgen receptor in ligand-independent manner and suppresses SMAD3 and AKT activation in ovarian cancer
PMID: 31614206
5
VEPH1 interacts with ERBB2 kinase domain and differentially impacts EGF signaling in ovarian cancer cells depending on driver mutations
PMID: 36828346
6
VEPH1 expression decreases tumor vascularization via AKT inhibition and reduced VEGFA and IL8 expression
PMID: 28301874
7
VEPH1 hypomethylation is associated with developmental language disorder through Wnt signaling dysregulation
PMID: 38264859
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.32Weak
sialadenitisOpen Targets
0.29Weak
androgenetic alopeciaOpen Targets
0.28Weak
HydrocephalusOpen Targets
0.28Weak
smoking initiationOpen Targets
0.27Weak
corneal neovascularizationOpen Targets
0.24Weak
esophageal adenocarcinomaOpen Targets
0.23Weak
Barrett's esophagusOpen Targets
0.21Weak
auditory system diseaseOpen Targets
0.20Weak
glaucomaOpen Targets
0.20Weak
major depressive disorderOpen Targets
0.19Weak
facial morphologyOpen Targets
0.19Weak
smoking behaviorOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.18Weak
synovium disorderOpen Targets
0.18Weak
HepatitisOpen Targets
0.17Weak
Abnormal blistering of the skinOpen Targets
0.17Weak
Abnormality of the skeletal systemOpen Targets
0.15Weak
familial long QT syndromeOpen Targets
0.11Weak
Romano-Ward syndromeOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EID2Shared pathway50%PMEPA1Shared pathway50%FAM89BShared pathway40%CILPShared pathway40%LDLRAD4Shared pathway40%LRRIQ1Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
33%
Liver
5%
Brain
2%
Ovary
1%
Heart
1%
Gene Interaction Network
Click a node to explore
VEPH1EID2PMEPA1FAM89BCILPLDLRAD4LRRIQ1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14D04
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.74–1.07]
RankingsWhere VEPH1 stands among ~20K protein-coding genes
  • #13,118of 20,598
    Most Researched25
  • #10,776of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedVEPH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Overexpressed VEPH1 inhibits epithelial-mesenchymal transition, invasion, and migration of human cutaneous melanoma cells through inactivating the TGF-β signaling pathway.
PMID: 31599708
Cell Cycle · 2019
1.00
2
Ventricular Zone Expressed PH Domain Containing 1 (VEPH1): an adaptor protein capable of modulating multiple signaling transduction pathways during normal and pathological development.
PMID: 31500637
Cell Commun Signal · 2019
0.90
3
Molecular mechanism of WWP1-mediated ubiquitination modification affecting proliferation and invasion/migration of liver cancer cells.
PMID: 37997542
Kaohsiung J Med Sci · 2024
0.80
4
Increased androgen receptor levels and signaling in ovarian cancer cells by VEPH1 associated with suppression of SMAD3 and AKT activation.
PMID: 31614206
J Steroid Biochem Mol Biol · 2020
0.70
5
Dampened VEPH1 activates mTORC1 signaling by weakening the TSC1/TSC2 association in hepatocellular carcinoma.
PMID: 32610114
J Hepatol · 2020
0.60