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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
  • Vav 1 Oncogene 2 3
  • VAV 3 4
  • Proto-Oncogene Vav 3

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 Spherocytosis, Type 1 and Common Variable Immunodeficiency. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Type I Interferon Signaling Pathways. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is VAV3.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for VAV1 Gene

Genomics for VAV1 Gene

Regulatory Elements for VAV1 Gene

Enhancers for VAV1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G006667 1.6 FANTOM5 ENCODE dbSUPER 8.4 -103.7 -103679 3.9 HDGF ZFP64 ZNF48 ELK1 ZNF143 PAF1 JUNB ZNF623 TBX21 ZNF518A VAV1 TNFSF14 DENND1C ADGRE1 ZNF557 GPR108 GC19M006661
GH19G006799 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7 +29.3 29305 4.8 HDGF SIN3A ETS1 ELK1 ZNF143 FOS KDM4B TBX21 ZNF518A NFIL3 ADGRE1 TNFSF14 VAV1 DENND1C SH2D3A GPR108 TNFSF9 GC19P006821
GH19G006771 1.5 FANTOM5 ENCODE dbSUPER 8.7 +0.3 339 2.3 ATF1 PKNOX1 ZNF143 KDM4B ZNF263 ZNF623 TBX21 NBN KDM1A CTCF SH2D3A DENND1C VAV1 ZNF557 ADGRE1 GPR108 GC19P006821
GH19G006270 2 FANTOM5 Ensembl ENCODE dbSUPER 6.5 -497.3 -497316 10.7 CREB3L1 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ZNF557 SNRPEP4 SAFB ENSG00000267571 VMAC GPR108 ACSBG2 SH2D3A MLLT1 VAV1
GH19G006811 1 ENCODE dbSUPER 7.6 +39.4 39397 0.2 ATF1 USF1 SUZ12 MAX YY1 ETS1 ZNF766 NFYB ZNF143 FOS VAV1 GC19P006821
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VAV1 on UCSC Golden Path with GeneCards custom track

Promoters for VAV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106589 632 1401 TBP HDAC1 ATF1 PKNOX1 ZBTB40 EGR1 ZNF143 ETV6 KDM4B IKZF2

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

Genomic Location for VAV1 Gene

Chromosome:
19
Start:
6,772,668 bp from pter
End:
6,857,366 bp from pter
Size:
84,699 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).
    Miscellaneous:
    • Vav stands for the sixth letter of the Hebrew alphabet.
    SequenceCaution:
    • Sequence=BAG62721.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA34383.1; Type=Frameshift; Positions=322, 355; Evidence={ECO:0000305};

    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 posLast=7373, Lys222, posLast=292292, Lys307, posLast=353353, posLast=410410, Lys429, isoforms=2444, Lys751, and Lys782
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VAV1 (VAV1)

No data available for DME Specific Peptides for VAV1 Gene

Domains & Families for VAV1 Gene

Suggested Antigen Peptide Sequences for VAV1 Gene

GenScript: Design optimal peptide antigens:

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

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
UniProtKB/Swiss-Prot Function:
Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation.

Gene Ontology (GO) - Molecular Function for VAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine binding IPI 20624904
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 2477241
GO:0005085 guanyl-nucleotide exchange factor activity IEA,TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS,IEA --
GO:0005515 protein binding IPI 8673706
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

miRNA for VAV1 Gene

miRTarBase miRNAs that target VAV1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
mitochondrion 3
extracellular 2
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for VAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
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

SIGNOR curated interactions for VAV1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for VAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006909 phagocytosis IEA --
GO:0006955 immune response IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007229 integrin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with VAV1: view

Drugs & Compounds for VAV1 Gene

(21) Drugs for VAV1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with VAV1: view

Transcripts for VAV1 Gene

Unigene Clusters for VAV1 Gene

Vav 1 guanine nucleotide exchange factor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
VAV1

Expression for VAV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for VAV1 Gene



Protein tissue co-expression partners for VAV1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VAV1 Gene:

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(4.5)
  • Blood(3.3)
  • Bone marrow(2.7)
  • Lymph node(2.3)
genes like me logo Genes that share expression patterns with VAV1: view

Primer Products

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 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia VAV1 34 35
  • 91.31 (n)
cow
(Bos Taurus)
Mammalia VAV1 35 34
  • 89.73 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vav1 34
  • 86.08 (n)
mouse
(Mus musculus)
Mammalia Vav1 34 16 35
  • 85.72 (n)
oppossum
(Monodelphis domestica)
Mammalia VAV1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VAV1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves VAV1 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497964 34
  • 67.34 (n)
zebrafish
(Danio rerio)
Actinopterygii VAV1 (2 of 2) 35
  • 75 (a)
OneToMany
VAV1 (1 of 2) 35
  • 57 (a)
OneToMany
Dr.17285 34
fruit fly
(Drosophila melanogaster)
Insecta vav 36 34 35
  • 50.31 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010292 34
  • 43.42 (n)
worm
(Caenorhabditis elegans)
Secernentea C35B8.2 36
  • 29 (a)
vav-1 35
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC24 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1542 35
  • 37 (a)
OneToMany
Species where no ortholog for VAV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for VAV1 Gene

Paralogs for VAV1 Gene

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

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

Variants for VAV1 Gene

Sequence variations from dbSNP and Humsavar for VAV1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000014023 -- 6,787,752(+) GTCAC(A/C/T)ATGCC intron-variant
rs1000018546 -- 6,828,594(+) GGGGG(G/T)CCAGG intron-variant
rs1000073750 -- 6,793,043(+) AAGGA(C/T)CATAT intron-variant
rs1000077637 -- 6,829,086(+) GGGCA(C/G/T)AGCCA intron-variant
rs1000105619 -- 6,855,362(+) GGATT(A/G)GGATG intron-variant

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)

Relevant External Links for VAV1 Gene

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

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

Disorders for VAV1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for VAV1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spherocytosis, type 1
  • hereditary spherocytosis type 1
common variable immunodeficiency
  • acquired agammaglobulinemia
hereditary spherocytosis
  • spherocytosis, type 1
- elite association - COSMIC cancer census association via MalaCards
Search VAV1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for VAV1

Genetic Association Database (GAD)
VAV1
Human Genome Epidemiology (HuGE) Navigator
VAV1
Tumor Gene Database (TGDB):
VAV1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VAV1
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 S.D. (Biochem. J. 2009) 3 4 22 64
  2. Novel association of Vav2 and Nek3 modulates signaling through the human prolactin receptor. (PMID: 15618286) Miller S.L. … Clevenger C.V. (Mol. Endocrinol. 2005) 3 4 22 64
  3. Genomic organization and regulation of the vav proto-oncogene. (PMID: 10760587) Denkinger D.J. … Kawahara R.S. (Biochim. Biophys. Acta 2000) 3 4 22 64
  4. hSiah2 is a new Vav binding protein which inhibits Vav-mediated signaling pathways. (PMID: 10207103) Germani A. … Varin-Blank N. (Mol. Cell. Biol. 1999) 3 4 22 64
  5. Role of substrates and products of PI 3-kinase in regulating activation of Rac-related guanosine triphosphatases by Vav. (PMID: 9438848) Han J. … Broek D. (Science 1998) 2 3 22 64

Products for VAV1 Gene