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VAV3 vav guanine nucleotide exchange factor 3 [ Homo sapiens (human) ]

Gene ID: 10451, updated on 3-May-2020

Summary

Official Symbol
VAV3provided by HGNC
Official Full Name
vav guanine nucleotide exchange factor 3provided by HGNC
Primary source
HGNC:HGNC:12659
See related
Ensembl:ENSG00000134215 MIM:605541
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
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. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in kidney (RPKM 10.0), skin (RPKM 8.3) and 17 other tissues See more
Orthologs

Genomic context

See VAV3 in Genome Data Viewer
Location:
1p13.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (107571161..107965180, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (108113782..108507545, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene netrin G1 Neighboring gene NDUFA4 pseudogene 1 Neighboring gene tRNA-undetermined (NNN) 8-1 Neighboring gene microRNA 7852 Neighboring gene VAV3 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2785 Neighboring gene Sharpr-MPRA regulatory region 7876 Neighboring gene solute carrier family 25 member 24

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
NHGRI GWA Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
NHGRI GWA Catalog

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

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

Clone Names

  • FLJ40431

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity TAS
Traceable Author Statement
more info
PubMed 
Rac guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
epidermal growth factor receptor binding 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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
lamellipodium assembly 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 B cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
positive regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylinositol 3-kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction 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
 
response to drug IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
vesicle fusion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
immunological synapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
guanine nucleotide exchange factor VAV3
Names
VAV-3
vav 3 guanine nucleotide exchange factor
vav 3 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_001079874.2NP_001073343.1  guanine nucleotide exchange factor VAV3 isoform 2

    See identical proteins and their annotated locations for NP_001073343.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as vav3.1) contains a novel 5' exon, and is missing most of the exons found in the 5' half of variant 1. This is a shorter isoform, and consists mostly of the C-terminal SH3-SH2-SH3 region.
    Source sequence(s)
    AC114491, AF035442, AF067817, AI304566
    Consensus CDS
    CCDS44181.1
    UniProtKB/Swiss-Prot
    Q9UKW4
    Related
    ENSP00000394897.2, ENST00000415432.6
    Conserved Domains (3) summary
    cd10407
    Location:106208
    SH2_Vav3; Src homology 2 (SH2) domain found in the Vav3 proteins
    cd11978
    Location:231286
    SH3_VAV3_2; C-terminal (or second) Src homology 3 domain of VAV3 protein
    cd11981
    Location:3697
    SH3_VAV3_1; First Src homology 3 domain of VAV3 protein
  2. NM_006113.5NP_006104.4  guanine nucleotide exchange factor VAV3 isoform 1

    See identical proteins and their annotated locations for NP_006104.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as VAV-3alpha) encodes the longer isoform (1).
    Source sequence(s)
    AC114491, AF067817, AF118887, AI304566, AL391235, DR002311
    Consensus CDS
    CCDS785.1
    UniProtKB/Swiss-Prot
    Q9UKW4
    Related
    ENSP00000359073.4, ENST00000370056.9
    Conserved Domains (8) summary
    cd10407
    Location:666768
    SH2_Vav3; Src homology 2 (SH2) domain found in the Vav3 proteins
    cd11978
    Location:791846
    SH3_VAV3_2; C-terminal (or second) Src homology 3 domain of VAV3 protein
    cd11981
    Location:596657
    SH3_VAV3_1; First Src homology 3 domain of VAV3 protein
    cd00029
    Location:514561
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00160
    Location:193369
    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:383506
    PH_Vav; Vav pleckstrin homology (PH) domain
    pfam00169
    Location:407502
    PH; PH domain
    pfam11971
    Location:18103
    CAMSAP_CH; CAMSAP CH domain

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    107571161..107965180 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000053.1XP_016855542.1  guanine nucleotide exchange factor VAV3 isoform X1

  2. XM_024450319.1XP_024306087.1  guanine nucleotide exchange factor VAV3 isoform X3

    Conserved Domains (6) summary
    cd10407
    Location:579681
    SH2_Vav3; Src homology 2 (SH2) domain found in the Vav3 proteins
    cd11978
    Location:704759
    SH3_VAV3_2; C-terminal (or second) Src homology 3 domain of VAV3 protein
    cd11981
    Location:509570
    SH3_VAV3_1; First Src homology 3 domain of VAV3 protein
    cd00029
    Location:427474
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00160
    Location:106282
    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:296419
    PH_Vav; Vav pleckstrin homology (PH) domain
  3. XM_017000055.1XP_016855544.1  guanine nucleotide exchange factor VAV3 isoform X5

  4. XM_005270360.2XP_005270417.1  guanine nucleotide exchange factor VAV3 isoform X4

    UniProtKB/Swiss-Prot
    Q9UKW4
    Conserved Domains (7) summary
    cd10407
    Location:572674
    SH2_Vav3; Src homology 2 (SH2) domain found in the Vav3 proteins
    cd11978
    Location:697752
    SH3_VAV3_2; C-terminal (or second) Src homology 3 domain of VAV3 protein
    cd11981
    Location:502563
    SH3_VAV3_1; First Src homology 3 domain of VAV3 protein
    cd00029
    Location:420467
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00160
    Location:99275
    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:289412
    PH_Vav; Vav pleckstrin homology (PH) domain
    pfam00169
    Location:313408
    PH; PH domain
  5. XM_017000056.1XP_016855545.1  guanine nucleotide exchange factor VAV3 isoform X7

  6. XM_017000054.1XP_016855543.1  guanine nucleotide exchange factor VAV3 isoform X2

  7. XM_005270361.1XP_005270418.1  guanine nucleotide exchange factor VAV3 isoform X6

    Related
    ENSP00000433559.1, ENST00000490388.2
    Conserved Domains (5) summary
    cd00029
    Location:514561
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00160
    Location:193369
    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:383506
    PH_Vav; Vav pleckstrin homology (PH) domain
    pfam00169
    Location:407502
    PH; PH domain
    pfam11971
    Location:18103
    CAMSAP_CH; CAMSAP CH domain

RNA

  1. XR_001736913.1 RNA Sequence

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