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27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VAV1
vav guanine nucleotide exchange factor 1
Chromosome 19 · 19p13.3
NCBI Gene: 7409Ensembl: ENSG00000141968.8HGNC: HGNC:12657UniProt: A0A0A0MR07
277PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphotyrosine residue bindingprotein bindingcytoplasmnatural killer cell activationcutaneous Leishmaniasiscancerlung adenocarcinomaacute myeloid leukemia
✦AI Summary

VAV1 is a hematopoietic-specific guanine nucleotide exchange factor (GEF) that serves as a critical signal transducer in immune cell activation and function 1. As a GEF, VAV1 couples tyrosine kinase signals with activation of Rho/Rac GTPases, promoting cytoskeletal rearrangement, immunological synapse formation, and cellular activation in T and B lymphocytes 12. VAV1 activity is tightly regulated by tyrosine phosphorylation and mediates multiple signaling pathways including JNK, ERK, Ras, NF-κB, and NFAT 1. Recent CRISPR studies demonstrate VAV1 as a key positive regulator of T cell receptor activation and cytokine production in primary human T cells 23. In macrophages, VAV1 promotes efferocytosis (apoptotic cell clearance) through IL-10-induced Rac1 activation, contributing to inflammation resolution 4. VAV1 has significant disease relevance, with therapeutic potential in autoimmune and chr19 inflammatory diseases through targeted protein degradation approaches 2. Additionally, VAV1 mutations and overexpression have been implicated in various human malignancies, including hematopoietic and non-hematopoietic cancers, with oncogenic VAV1-MYO1F fusion proteins driving peripheral T-cell lymphoma through dysregulated glycolytic metabolism 567.

Sources cited
1
VAV1 is a hematopoietic-specific GEF that couples tyrosine kinase signals with Rho/Rac GTPase activation and mediates multiple signaling pathways
PMID: 17590270
2
VAV1 promotes T cell activation, cytokine production, and has therapeutic potential in autoimmune diseases
PMID: 39060140
3
CRISPR studies show VAV1 as a key regulator of T cell activation with both gain- and loss-of-function mutations affecting T cell function
PMID: 38093011
4
VAV1 promotes macrophage efferocytosis through IL-10-induced Rac1 activation during inflammation resolution
PMID: 30291029
5
VAV1 mutations are oncogenic and implicated in various human cancers
PMID: 31654719
6
VAV1-MYO1F fusion protein drives peripheral T-cell lymphoma through dysregulated glycolytic metabolism
PMID: 39668163
7
Wild-type and mutant VAV1 forms are implicated in malignancies of various tissue origins
PMID: 37174676
Disease Associationsⓘ20
cutaneous LeishmaniasisOpen Targets
0.50Moderate
cancerOpen Targets
0.39Weak
lung adenocarcinomaOpen Targets
0.23Weak
acute myeloid leukemiaOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.20Weak
angioimmunoblastic T-cell lymphomaOpen Targets
0.20Weak
multiple myelomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
chronic lymphocytic leukemiaOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
pancreatic ductal adenocarcinomaOpen Targets
0.19Weak
adult T-cell leukemia/lymphomaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
gliomaOpen Targets
0.19Weak
cutaneous melanomaOpen Targets
0.19Weak
esophageal carcinomaOpen Targets
0.19Weak
lung carcinomaOpen Targets
0.19Weak
lymphoid neoplasmOpen Targets
0.19Weak
ShockOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTKProtein interaction100%CBLProtein interaction100%FCER1GProtein interaction100%FYB1Protein interaction100%GRB2Protein interaction100%HCKProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
20%
Liver
4%
Brain
3%
Heart
2%
Ovary
1%
Gene Interaction Network
Click a node to explore
VAV1BTKCBLFCER1GFYB1GRB2HCK
PROTEIN STRUCTURE
Preparing viewer…
PDB6NEW · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.35Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.26 [0.20–0.35]
RankingsWhere VAV1 stands among ~20K protein-coding genes
  • #1,316of 20,598
    Most Researched277 · top 10%
  • #1,562of 17,882
    Most Constrained (LOEUF)0.35 · top 10%
Genes detectedVAV1
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Base-editing mutagenesis maps alleles to tune human T cell functions.
PMID: 38093011
Nature · 2024
1.00
2
VAV1 as a putative therapeutic target in autoimmune and chronic inflammatory diseases.
PMID: 39060140
Trends Immunol · 2024
0.90
3
Vav1 Promotes B-Cell Lymphoma Development.
PMID: 35326399
Cells · 2022
0.84
4
Regulatory T Cells Promote Macrophage Efferocytosis during Inflammation Resolution.
PMID: 30291029
Immunity · 2018
0.80
5
Vav1 mutations: What makes them oncogenic?
PMID: 31654719
Cell Signal · 2020
0.70