This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been id... See more...

Aliases for VAV1 Gene

Aliases for VAV1 Gene

  • Vav Guanine Nucleotide Exchange Factor 1 2 3 5
  • Vav 1 Guanine Nucleotide Exchange Factor 2 3
  • Proto-Oncogene Vav 3 4
  • Vav 1 Oncogene 2 3
  • VAV 3 4
  • VAV1 5

External Ids for VAV1 Gene

Previous HGNC Symbols for VAV1 Gene

  • VAV

Previous GeneCards Identifiers for VAV1 Gene

  • GC19P006867
  • GC19P006712
  • GC19P006723
  • GC19P006535

Summaries for VAV1 Gene

Entrez Gene Summary for VAV1 Gene

  • This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for VAV1 Gene

VAV1 (Vav Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with VAV1 include Wiskott-Aldrich Syndrome and Angioimmunoblastic T-Cell Lymphoma. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is VAV3.

UniProtKB/Swiss-Prot Summary for VAV1 Gene

  • Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation.

Gene Wiki entry for VAV1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VAV1 Gene

Genomics for VAV1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VAV1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VAV1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VAV1

Top Transcription factor binding sites by QIAGEN in the VAV1 gene promoter:
  • AML1a

Genomic Locations for VAV1 Gene

Genomic Locations for VAV1 Gene
chr19:6,772,708-6,857,366
(GRCh38/hg38)
Size:
84,659 bases
Orientation:
Plus strand
chr19:6,772,722-6,857,377
(GRCh37/hg19)
Size:
84,656 bases
Orientation:
Plus strand

Genomic View for VAV1 Gene

Genes around VAV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VAV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VAV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VAV1 Gene

Proteins for VAV1 Gene

  • Protein details for VAV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15498-VAV_HUMAN
    Recommended name:
    Proto-oncogene vav
    Protein Accession:
    P15498
    Secondary Accessions:
    • B4DVK9
    • M0QXX6
    • Q15860

    Protein attributes for VAV1 Gene

    Size:
    845 amino acids
    Molecular mass:
    98314 Da
    Quaternary structure:
    • Interacts with SHB (PubMed:12084069). Interacts with APS, GRB2, GRB3, DOCK2, SLA, TEC and ZNF655/VIK (PubMed:12393632, PubMed:12400014, PubMed:15558030). Interacts with SIAH2; without leading to its degradation (PubMed:10207103). Associates with BLNK, PLCG1, GRB2 and NCK1 in a B-cell antigen receptor-dependent fashion (PubMed:9697839). Interacts with CBLB; which inhibits tyrosine phosphorylation and down-regulates activity (PubMed:9399639). May interact with CCPG1. Interacts with CLNK. Interacts with THEMIS2 (By similarity). Interacts with NEK3 and this interaction is prolactin-dependent (PubMed:15618286). Interacts with ITK (PubMed:15661896). Interacts with PTK2B/PYK2 (By similarity). Interacts with HCK. Interacts with PTK2B/PYK2 (PubMed:19207108). Interacts (via SH2 domain) with SYK (PubMed:8986718). Interacts with ANKRD54. Interacts with CD6 (By similarity).
    SequenceCaution:
    • Sequence=BAG62721.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA34383.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • 'Vav' stands for the sixth letter of the Hebrew alphabet.

    Three dimensional structures from OCA and Proteopedia for VAV1 Gene

    Alternative splice isoforms for VAV1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VAV1 Gene

Post-translational modifications for VAV1 Gene

  • Phosphorylated on tyrosine residues by HCK in response to IFNG and bacterial lipopolysaccharide (LPS) (By similarity). Phosphorylated by FYN.
  • Ubiquitination at Lys73, Lys222, Lys292, Lys307, Lys353, Lys410, Lys429, Lys444, Lys751, and Lys782
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for VAV1

No data available for DME Specific Peptides for VAV1 Gene

Domains & Families for VAV1 Gene

Gene Families for VAV1 Gene

Protein Domains for VAV1 Gene

InterPro:
Blocks:
  • SH2 domain signature
  • SH3 domain signature
  • Pleckstrin-like
  • Variant SH3
  • DH domain
  • Calponin-like actin-binding
ProtoNet:

Suggested Antigen Peptide Sequences for VAV1 Gene

GenScript: Design optimal peptide antigens:
  • VAV1 protein (Q96D37_HUMAN)
  • Proto-oncogene vav (VAV_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15498

UniProtKB/Swiss-Prot:

VAV_HUMAN :
  • The DH domain is involved in interaction with CCPG1.
Domain:
  • The DH domain is involved in interaction with CCPG1.
genes like me logo Genes that share domains with VAV1: view

Function for VAV1 Gene

Molecular function for VAV1 Gene

UniProtKB/Swiss-Prot Function:
Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation.
GENATLAS Biochemistry:
VAV proto-oncogene 1,homolog,expressed in hematopoietic cells,critical transducer of T cell receptor signals to the calcium,ERK and FNKB pathways

Phenotypes From GWAS Catalog for VAV1 Gene

Gene Ontology (GO) - Molecular Function for VAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IPI 20624904
GO:0005085 guanyl-nucleotide exchange factor activity IEA,TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IEA,IPI 8673706
GO:0030676 Rac guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with VAV1: view
genes like me logo Genes that share phenotypes with VAV1: view

Animal Models for VAV1 Gene

MGI Knock Outs for VAV1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VAV1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VAV1 Gene

Localization for VAV1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VAV1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 3
mitochondrion 3
nucleus 3
extracellular 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for VAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with VAV1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for VAV1 Gene

Pathways & Interactions for VAV1 Gene

genes like me logo Genes that share pathways with VAV1: view

Pathways by source for VAV1 Gene

20 GeneGo (Thomson Reuters) pathways for VAV1 Gene
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling_Role of PDGFs in cell migration
  • Development A2B receptor- action via G-protein alpha s
  • Development Angiotensin signaling via PYK2
20 Qiagen pathways for VAV1 Gene
  • CD28 Signaling in T-Helper Cell
  • CDC42 Pathway
  • EGF Pathway
  • EphB-EphrinB Signaling
  • Fc-EpsilonRI Pathway
1 Cell Signaling Technology pathway for VAV1 Gene

SIGNOR curated interactions for VAV1 Gene

Activates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for VAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0006955 immune response IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with VAV1: view

Drugs & Compounds for VAV1 Gene

(23) Drugs for VAV1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(17) Additional Compounds for VAV1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with VAV1: view

Transcripts for VAV1 Gene

mRNA/cDNA for VAV1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VAV1

Alternative Splicing Database (ASD) splice patterns (SP) for VAV1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: -
SP2: -
SP3: - - -
SP4:
SP5:
SP6: -

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for VAV1 Gene

GeneLoc Exon Structure for
VAV1

Expression for VAV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VAV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VAV1 Gene

This gene is overexpressed in Whole Blood (x27.7) and Spleen (x5.1).

Protein differential expression in normal tissues from HIPED for VAV1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (41.8), Lymph node (9.3), and Peripheral blood mononuclear cells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VAV1 Gene



Protein tissue co-expression partners for VAV1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VAV1

SOURCE GeneReport for Unigene cluster for VAV1 Gene:

Hs.116237

mRNA Expression by UniProt/SwissProt for VAV1 Gene:

P15498-VAV_HUMAN
Tissue specificity: Widely expressed in hematopoietic cells but not in other cell types.

Evidence on tissue expression from TISSUES for VAV1 Gene

  • Spleen(4.7)
  • Blood(3.5)
  • Bone marrow(3.3)
  • Lymph node(3.2)
  • Heart(2.8)
  • Intestine(2.7)
  • Kidney(2.7)
  • Nervous system(2.7)
  • Muscle(2.6)
  • Liver(2.5)
  • Skin(2.4)
  • Lung(2.4)
  • Pancreas(2.3)
  • Thyroid gland(2.2)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with VAV1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for VAV1 Gene

Orthologs for VAV1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VAV1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VAV1 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VAV1 30 31
  • 91.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VAV1 30 31
  • 89.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Vav1 30
  • 86.08 (n)
Mouse
(Mus musculus)
Mammalia Vav1 30 17 31
  • 85.72 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia VAV1 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia VAV1 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VAV1 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100497964 30
  • 67.34 (n)
Zebrafish
(Danio rerio)
Actinopterygii VAV1 (2 of 2) 31
  • 75 (a)
OneToMany
VAV1 (1 of 2) 31
  • 57 (a)
OneToMany
Dr.17285 30
Fruit Fly
(Drosophila melanogaster)
Insecta vav 30 31 32
  • 50.31 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010292 30
  • 43.42 (n)
Worm
(Caenorhabditis elegans)
Secernentea C35B8.2 32
  • 29 (a)
vav-1 31
  • 27 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC24 31
  • 14 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1542 31
  • 37 (a)
OneToMany
Species where no ortholog for VAV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for VAV1 Gene

ENSEMBL:
Gene Tree for VAV1 (if available)
TreeFam:
Gene Tree for VAV1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VAV1: view image

Paralogs for VAV1 Gene

(14) SIMAP similar genes for VAV1 Gene using alignment to 4 proteins:

  • VAV_HUMAN
  • F5H5P4_HUMAN
  • L0R6S8_HUMAN
  • Q96D37_HUMAN
genes like me logo Genes that share paralogs with VAV1: view

Variants for VAV1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VAV1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
710977 Likely Benign: not provided 6,821,660(+) C/T SYNONYMOUS_VARIANT
710978 Likely Benign: not provided 6,826,678(+) C/T SYNONYMOUS_VARIANT
711997 Benign: not specified; not provided 6,828,442(+) G/A SYNONYMOUS_VARIANT
713538 Benign: not provided 6,850,751(+) G/C SYNONYMOUS_VARIANT
720933 Benign: not provided 6,850,765(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for VAV1 Gene

Structural Variations from Database of Genomic Variants (DGV) for VAV1 Gene

Variant ID Type Subtype PubMed ID
dgv136e55 CNV gain 17911159
dgv14e196 CNV duplication 17116639
dgv617e199 CNV deletion 23128226
esv2659812 CNV deletion 23128226
esv2718071 CNV deletion 23290073
esv2718072 CNV deletion 23290073
esv2718074 CNV deletion 23290073
esv2718075 CNV deletion 23290073
esv2718076 CNV deletion 23290073
esv2718077 CNV deletion 23290073
esv2718078 CNV deletion 23290073
esv29628 CNV gain 19812545
esv3555951 CNV deletion 23714750
esv3643565 CNV loss 21293372
esv3643566 CNV loss 21293372
nsv1055253 CNV gain 25217958
nsv1056970 CNV loss 25217958
nsv1072315 CNV deletion 25765185
nsv442451 CNV gain 18776908
nsv510752 CNV deletion 20534489
nsv519561 CNV loss 19592680
nsv529046 CNV loss 19592680
nsv833729 CNV loss 17160897

Variation tolerance for VAV1 Gene

Residual Variation Intolerance Score: 9.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VAV1 Gene

Human Gene Mutation Database (HGMD)
VAV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VAV1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VAV1 Gene

Disorders for VAV1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for VAV1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search VAV1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VAV1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with VAV1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VAV1 Gene

Publications for VAV1 Gene

  1. A Pyk2-Vav1 complex is recruited to beta3-adhesion sites to initiate Rho activation. (PMID: 19207108) Gao C … Blystone SD (The Biochemical journal 2009) 3 4 23
  2. Characterization of VIK-1: a new Vav-interacting Kruppel-like protein. (PMID: 15558030) Houlard M … Varin-Blank N (Oncogene 2005) 3 4 23
  3. Novel association of Vav2 and Nek3 modulates signaling through the human prolactin receptor. (PMID: 15618286) Miller SL … Clevenger CV (Molecular endocrinology (Baltimore, Md.) 2005) 3 4 23
  4. Adaptor protein APS binds the NH2-terminal autoinhibitory domain of guanine nucleotide exchange factor Vav3 and augments its activity. (PMID: 12400014) Yabana N … Shibuya M (Oncogene 2002) 3 4 23
  5. DOCK2 associates with CrkL and regulates Rac1 in human leukemia cell lines. (PMID: 12393632) Nishihara H … Tanaka S (Blood 2002) 3 4 23

Products for VAV1 Gene