Format

Send to:

Choose Destination

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

Gene ID: 7409, updated on 13-Mar-2020

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

Genomic context

See VAV1 in Genome Data Viewer
Location:
19p13.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6772708..6857366)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6772679..6857377)

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 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

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
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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 (7) 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
    pfam00130
    Location:516567
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam00169
    Location:403504
    PH; PH domain
    pfam00307
    Location:2115
    CH; Calponin homology (CH) domain
    cl15255
    Location:665739
    SH2; Src homology 2 (SH2) domain
Support Center