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

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; AllianceGenome:HGNC:12659
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: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (107571161..107965180, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (107608692..108002653, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (108113783..108507802, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Serum exosome-derived miR-146a-3p promotes macrophage M2 polarization in allergic rhinitis by targeting VAV3 via PI3K/AKT/mTOR pathway.
Title: Serum exosome-derived miR-146a-3p promotes macrophage M2 polarization in allergic rhinitis by targeting VAV3 via PI3K/AKT/mTOR pathway.
VAV3 in human cancers: Mechanism and clinical implication.
Title: VAV3 in human cancers: Mechanism and clinical implication.
Rs7537605 polymorphism in VAV3 gene and rs28665122 polymorphism in SEPS gene are not associated with Hashimoto's thyroiditis in North-East Algerian population.
Title: Rs7537605 polymorphism in VAV3 gene and rs28665122 polymorphism in SEPS gene are not associated with Hashimoto's thyroiditis in North-East Algerian population.
CARD9, VAV3, and infection risk in IgA nephropathy.
Title: CARD9, VAV3, and infection risk in IgA nephropathy.
VAV3 regulates glioblastoma cell proliferation, migration, invasion and cancer stem-like cell self-renewal.
Title: VAV3 regulates glioblastoma cell proliferation, migration, invasion and cancer stem‑like cell self‑renewal.
Targeting HuR-Vav3 mRNA interaction prevents Pseudomonas aeruginosa adhesion to the cystic fibrosis airway epithelium.
Title: Targeting HuR-Vav3 mRNA interaction prevents Pseudomonas aeruginosa adhesion to the cystic fibrosis airway epithelium.
Nuclear Vav3 is required for polycomb repression complex-1 activity in B-cell lymphoblastic leukemogenesis.
Title: Nuclear Vav3 is required for polycomb repression complex-1 activity in B-cell lymphoblastic leukemogenesis.
The effect of VAV3 polymorphisms on thyroid cancer.
Title: The effect of VAV3 polymorphisms on thyroid cancer.
Vav3 Mediates Pseudomonas aeruginosa Adhesion to the Cystic Fibrosis Airway Epithelium.
Title: Vav3 Mediates Pseudomonas aeruginosa Adhesion to the Cystic Fibrosis Airway Epithelium.
VAV3 rs7528153 and VAV3-AS1 rs1185222 polymorphisms are associated with an increased risk of developing hypertension.
Title: VAV3 rs7528153 and VAV3-AS1 rs1185222 polymorphisms are associated with an increased risk of developing hypertension.

Submit: New GeneRIF Correction See all GeneRIFs (63)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1574 (e-PCR)
- UniSTS:79637

SHGC-83256 (e-PCR)
- UniSTS:101142

STS-AA009655 (e-PCR)
- UniSTS:51993

RH119571 (e-PCR)
- UniSTS:132654

SHGC-75253 (e-PCR)
- UniSTS:68419

SHGC-75257 (e-PCR)
- UniSTS:73027

AL009700 (e-PCR)
- UniSTS:41043

AL009945 (e-PCR)
- UniSTS:22371

AL033681 (e-PCR)
- UniSTS:93539

AL033925 (e-PCR)
- UniSTS:93808

SHGC-145896 (e-PCR)
- UniSTS:181988

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	TAS Traceable Author Statement more info	PubMed
enables epidermal growth factor receptor binding	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	EXP Inferred from Experiment more info	PubMed
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
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 angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in integrin-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in lamellipodium assembly	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 B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of GTPase activity	IBA Inferred from Biological aspect of Ancestor 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 response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info
involved_in vesicle fusion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in immunological synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: guanine nucleotide exchange factor VAV3

Names: VAV-3; vav 3 guanine nucleotide exchange factor; vav 3 oncogene

NCBI Reference Sequences (RefSeq)

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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)

NM_001079874.2 → NP_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/TrEMBL

B4DU29

Related

ENSP00000394897.2, ENST00000415432.6

Conserved Domains (3) summary

cd10407
Location:106 → 208

SH2_Vav3; Src homology 2 (SH2) domain found in the Vav3 proteins

cd11978
Location:231 → 286

SH3_VAV3_2; C-terminal (or second) Src homology 3 domain of VAV3 protein

cd11981
Location:36 → 97

SH3_VAV3_1; First Src homology 3 domain of VAV3 protein
NM_006113.5 → NP_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

B1AMM0, B1APV5, B4E232, B7ZLR1, E9PQ97, O60498, O95230, Q9UKW4, Q9Y5X8

UniProtKB/TrEMBL

A0A2X0U2Q1

Related

ENSP00000359073.4, ENST00000370056.9

Conserved Domains (7) summary

cd10407
Location:666 → 768

SH2_Vav3; Src homology 2 (SH2) domain found in the Vav3 proteins

cd11978
Location:791 → 846

SH3_VAV3_2; C-terminal (or second) Src homology 3 domain of VAV3 protein

cd11981
Location:596 → 657

SH3_VAV3_1; First Src homology 3 domain of VAV3 protein

cd00160
Location:193 → 369

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:383 → 506

PH_Vav; Vav pleckstrin homology (PH) domain

cd21264
Location:2 → 118

CH_VAV3; calponin homology (CH) domain found in VAV3 protein and similar proteins

cd20869
Location:506 → 564

C1_VAV3; protein kinase C conserved region 1 (C1 domain) found in VAV3 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

107571161..107965180 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017000053.2 → XP_016855542.1 guanine nucleotide exchange factor VAV3 isoform X1

UniProtKB/TrEMBL

A0A2X0U2Q1
XM_024450319.2 → XP_024306087.1 guanine nucleotide exchange factor VAV3 isoform X3

UniProtKB/TrEMBL

A0A2X0U2Q1

Conserved Domains (6) summary

cd10407
Location:579 → 681

SH2_Vav3; Src homology 2 (SH2) domain found in the Vav3 proteins

cd11978
Location:704 → 759

SH3_VAV3_2; C-terminal (or second) Src homology 3 domain of VAV3 protein

cd11981
Location:509 → 570

SH3_VAV3_1; First Src homology 3 domain of VAV3 protein

cd00029
Location:427 → 474

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:106 → 282

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:296 → 419

PH_Vav; Vav pleckstrin homology (PH) domain
XM_047430476.1 → XP_047286432.1 guanine nucleotide exchange factor VAV3 isoform X6
XM_017000055.1 → XP_016855544.1 guanine nucleotide exchange factor VAV3 isoform X5

UniProtKB/TrEMBL

A0A2X0U2Q1
XM_005270360.3 → XP_005270417.1 guanine nucleotide exchange factor VAV3 isoform X4

UniProtKB/TrEMBL

A0A2X0U2Q1

Conserved Domains (7) summary

cd10407
Location:572 → 674

SH2_Vav3; Src homology 2 (SH2) domain found in the Vav3 proteins

cd11978
Location:697 → 752

SH3_VAV3_2; C-terminal (or second) Src homology 3 domain of VAV3 protein

cd11981
Location:502 → 563

SH3_VAV3_1; First Src homology 3 domain of VAV3 protein

cd00029
Location:420 → 467

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:99 → 275

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:289 → 412

PH_Vav; Vav pleckstrin homology (PH) domain

pfam00169
Location:313 → 408

PH; PH domain
XM_047430439.1 → XP_047286395.1 guanine nucleotide exchange factor VAV3 isoform X6
XM_017000056.2 → XP_016855545.1 guanine nucleotide exchange factor VAV3 isoform X10
XM_017000054.2 → XP_016855543.1 guanine nucleotide exchange factor VAV3 isoform X2

UniProtKB/TrEMBL

A0A2X0U2Q1
XM_047430543.1 → XP_047286499.1 guanine nucleotide exchange factor VAV3 isoform X8
XM_005270361.2 → XP_005270418.1 guanine nucleotide exchange factor VAV3 isoform X7

UniProtKB/TrEMBL

H0YDG2

Related

ENSP00000433559.1, ENST00000490388.2

Conserved Domains (5) summary

cd00029
Location:514 → 561

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:193 → 369

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:383 → 506

PH_Vav; Vav pleckstrin homology (PH) domain

pfam00169
Location:407 → 502

PH; PH domain

pfam11971
Location:18 → 103

CAMSAP_CH; CAMSAP CH domain
XM_047430555.1 → XP_047286511.1 guanine nucleotide exchange factor VAV3 isoform X9

RNA

XR_007063680.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

107608692..108002653 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333836.1 → XP_054189811.1 guanine nucleotide exchange factor VAV3 isoform X1
XM_054333838.1 → XP_054189813.1 guanine nucleotide exchange factor VAV3 isoform X3
XM_054333842.1 → XP_054189817.1 guanine nucleotide exchange factor VAV3 isoform X6
XM_054333840.1 → XP_054189815.1 guanine nucleotide exchange factor VAV3 isoform X5
XM_054333839.1 → XP_054189814.1 guanine nucleotide exchange factor VAV3 isoform X4
XM_054333841.1 → XP_054189816.1 guanine nucleotide exchange factor VAV3 isoform X6
XM_054333846.1 → XP_054189821.1 guanine nucleotide exchange factor VAV3 isoform X10
XM_054333837.1 → XP_054189812.1 guanine nucleotide exchange factor VAV3 isoform X2
XM_054333844.1 → XP_054189819.1 guanine nucleotide exchange factor VAV3 isoform X8
XM_054333843.1 → XP_054189818.1 guanine nucleotide exchange factor VAV3 isoform X7
XM_054333845.1 → XP_054189820.1 guanine nucleotide exchange factor VAV3 isoform X9