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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

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. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and EphB-EphrinB Signaling. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around VAV1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for VAV1 Gene at MOPED

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 Lys 73, Lys 222, Lys 292, Lys 307, Lys 353, Lys 410, Lys 429, Lys 444, Lys 751, and Lys 782
  • Modification sites at PhosphoSitePlus

Other Protein References for VAV1 Gene

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.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • The DH domain is involved in interaction with CCPG1.
  • Contains 1 CH (calponin-homology) domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH2 domain.
  • Contains 2 SH3 domains.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
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:0005515 protein binding IEA,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

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
Jensen Localization Image for VAV1 Gene COMPARTMENTS Subcellular localization image for VAV1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
mitochondrion 3
cytoskeleton 2
nucleus 2
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for VAV1 Gene

Pathways & Interactions for VAV1 Gene

SuperPathways for VAV1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 PI3K events in ERBB4 signaling
3 TCR Signaling (Qiagen)
4 Immune response Fc epsilon RI pathway
5 CD28 co-stimulation
genes like me logo Genes that share pathways with VAV1: view

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 TAS 2477241
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

(19) Drugs for VAV1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(21) 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:

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 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, MOPED, and MaxQB for VAV1 Gene



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.
genes like me logo Genes that share expression patterns with VAV1: view

Protein tissue co-expression partners for VAV1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia VAV1 35
  • 89.73 (n)
  • 95.62 (a)
VAV1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VAV1 35
  • 91.31 (n)
  • 96.33 (a)
VAV1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vav1 35
  • 85.72 (n)
  • 93.14 (a)
Vav1 16
Vav1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VAV1 35
  • 99.61 (n)
  • 99.87 (a)
VAV1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vav1 35
  • 86.08 (n)
  • 93.24 (a)
oppossum
(Monodelphis domestica)
Mammalia VAV1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VAV1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves VAV1 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497964 35
  • 67.34 (n)
  • 73.01 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.17285 35
VAV1 (1 of 2) 36
  • 57 (a)
OneToMany
VAV1 (2 of 2) 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta vav 37
  • 34 (a)
vav 35
  • 50.31 (n)
  • 37.57 (a)
vav 36
  • 27 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010292 35
  • 43.42 (n)
  • 34.86 (a)
worm
(Caenorhabditis elegans)
Secernentea C35B8.2 37
  • 29 (a)
vav-1 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC24 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1542 36
  • 37 (a)
OneToMany
Species with no ortholog for VAV1:
  • 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
rs36097961 - 6,850,756(-) TTACC(A/G)TAAGC reference, missense
rs797622 -- 6,780,161(+) ataaC(C/T)TCATC intron-variant
rs797629 -- 6,785,868(-) cagct(A/G)gccaa intron-variant
rs808843 -- 6,785,950(-) gggcg(C/T)ggtgg intron-variant
rs811292 -- 6,782,041(+) AAAAT(A/G)AGAAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3703n71 CNV Loss 21882294
dgv14e196 CNV Duplication 17116639
nsv519561 CNV Loss 19592680
esv2718071 CNV Deletion 23290073
esv2659812 CNV Deletion 23128226
dgv617e199 CNV Deletion 23128226
dgv136e55 CNV Gain 17911159
nsv529046 CNV Loss 19592680
esv2718072 CNV Deletion 23290073
esv2718074 CNV Deletion 23290073
esv2718075 CNV Deletion 23290073
nsv833729 CNV Loss 17160897
esv2718076 CNV Deletion 23290073
nsv510752 CNV Loss 20534489
esv29628 CNV Gain 19812545
nsv442451 CNV CNV 18776908
esv2718077 CNV Deletion 23290073
esv2718078 CNV Deletion 23290073

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

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

Disorders for VAV1 Gene

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

No disorders were found for VAV1 Gene.

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

Publications for VAV1 Gene

  1. Genomic organization and regulation of the vav proto-oncogene. (PMID: 10760587) Denkinger D.J. … Kawahara R.S. (Biochim. Biophys. Acta 2000) 3 4 23 67
  2. 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 23
  3. Vav1 and PU.1 are recruited to the CD11b promoter in APL-derived promyelocytes: role of Vav1 in modulating PU.1-containing complexes during ATRA-induced differentiation. (PMID: 19747912) Brugnoli F. … Bertagnolo V. (Exp. Cell Res. 2010) 3 23
  4. Mass spectrometry-based identification of Y745 of Vav1 as a tyrosine residue crucial in maturation of acute promyelocytic leukemia-derived cells. (PMID: 20028078) Bertagnolo V. … Capitani S. (J. Proteome Res. 2010) 3 23
  5. 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 23

Products for VAV1 Gene

Sources for VAV1 Gene

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