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    VAV1 vav guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

    Gene ID: 7409, updated on 19-Jul-2021

    Summary

    Official Symbol
    VAV1provided by HGNC
    Official Full Name
    vav guanine nucleotide exchange factor 1provided by HGNC
    Primary source
    HGNC:HGNC:12657
    See related
    Ensembl:ENSG00000141968 MIM:164875
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VAV
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 23.7), appendix (RPKM 21.5) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See VAV1 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6772708..6857366)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6772719..6857372)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985302 Neighboring gene thyroid hormone receptor interactor 10 Neighboring gene SH2 domain containing 3A Neighboring gene Sharpr-MPRA regulatory region 13171 Neighboring gene uncharacterized LOC105372256 Neighboring gene adhesion G protein-coupled receptor E1 Neighboring gene adhesion G protein-coupled receptor E4, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 alone or CD4/gp160 cross-linking induces tyrosine phosphorylation of intracellular substrates p59fyn, zap 70, and p95vav and also leads to ras activation PubMed
    Nef nef The association of HIV-1 Nef with Vav1, Pak2, and Nck1 is greatly reduced in SLP76-deficient T cells PubMed
    nef Nef-mediated microdomain recruitment of Vav1 is associated with the Nef-p21-activated kinase 2 (PAK2) signalosome. Nef residue F195 is identified as critical for Nef-mediated raft recruitment of Vav1 PubMed
    nef The interaction of HIV-1 Nef with Vav is detected by pull-down assays; mutations in the Nef PXXP motif maintain some residual binding capacity to Vav PubMed
    nef The C-terminal SH3 domain of Vav binds to the PXXP motif in HIV-1 Nef and this interaction activates Vav and its downstream effectors, leading to morphological changes, cytoskeletal rearrangements, and the activation of the JNK/SAPK cascade PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphorylation-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
     
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell costimulation TAS
    Traceable Author Statement
    more info
     
    involved_in T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutrophil chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet activation TAS
    Traceable Author Statement
    more info
     
    involved_in positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of natural killer cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of GTPase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    NOT involved_in regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    involved_in small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    proto-oncogene vav
    Names
    vav 1 guanine nucleotide exchange factor
    vav 1 oncogene

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001258206.2NP_001245135.1  proto-oncogene vav isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK225710, BC013361, DC408645
      Consensus CDS
      CCDS59341.1
      UniProtKB/TrEMBL
      A0A0A0MR07, Q96D37
      Related
      ENSP00000302269.2, ENST00000304076.6
      Conserved Domains (7) summary
      cd10405
      Location:643745
      SH2_Vav1; Src homology 2 (SH2) domain found in the Vav1 proteins
      cd11976
      Location:764817
      SH3_VAV1_2; C-terminal (or second) Src homology 3 domain of VAV1 protein
      cd00160
      Location:195371
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01223
      Location:385508
      PH_Vav; Vav pleckstrin homology (PH) domain
      pfam00130
      Location:516567
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl00030
      Location:18102
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cl17036
      Location:596639
      SH3; Src Homology 3 domain superfamily
    2. NM_001258207.2NP_001245136.1  proto-oncogene vav isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK301128, BC013361, DC408645
      Consensus CDS
      CCDS59342.1
      UniProtKB/Swiss-Prot
      P15498
      UniProtKB/TrEMBL
      Q96D37
      Related
      ENSP00000469450.1, ENST00000596764.5
      Conserved Domains (7) summary
      cd10405
      Location:633735
      SH2_Vav1; Src homology 2 (SH2) domain found in the Vav1 proteins
      cd11976
      Location:754807
      SH3_VAV1_2; C-terminal (or second) Src homology 3 domain of VAV1 protein
      cd11979
      Location:564626
      SH3_VAV1_1; First Src homology 3 domain of VAV1 protein
      smart00325
      Location:187340
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01223
      Location:353476
      PH_Vav; Vav pleckstrin homology (PH) domain
      pfam00130
      Location:484535
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl00030
      Location:18102
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    3. NM_005428.4NP_005419.2  proto-oncogene vav isoform 1

      See identical proteins and their annotated locations for NP_005419.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK313307, BC013361, DC408645
      Consensus CDS
      CCDS12174.1
      UniProtKB/Swiss-Prot
      P15498
      UniProtKB/TrEMBL
      B2R8B5, Q96D37
      Related
      ENSP00000472929.1, ENST00000602142.6
      Conserved Domains (7) summary
      cd10405
      Location:665767
      SH2_Vav1; Src homology 2 (SH2) domain found in the Vav1 proteins
      cd11976
      Location:786839
      SH3_VAV1_2; C-terminal (or second) Src homology 3 domain of VAV1 protein
      cd11979
      Location:596658
      SH3_VAV1_1; First Src homology 3 domain of VAV1 protein
      cd00160
      Location:195371
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01223
      Location:385508
      PH_Vav; Vav pleckstrin homology (PH) domain
      cd21262
      Location:2121
      CH_VAV1; calponin homology (CH) domain found in VAV1 protein
      cd20867
      Location:510566
      C1_VAV1; protein kinase C conserved region 1 (C1 domain) found in VAV1 protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      6772708..6857366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259642.1XP_005259699.1  proto-oncogene vav isoform X1

      Conserved Domains (6) summary
      cd11979
      Location:596658
      SH3_VAV1_1; First Src homology 3 domain of VAV1 protein
      cd00160
      Location:195371
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01223
      Location:385508
      PH_Vav; Vav pleckstrin homology (PH) domain
      cd21262
      Location:2121
      CH_VAV1; calponin homology (CH) domain found in VAV1 protein
      cd20867
      Location:510566
      C1_VAV1; protein kinase C conserved region 1 (C1 domain) found in VAV1 protein
      cl15255
      Location:665739
      SH2; Src homology 2 (SH2) domain
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