Gene Gene information from NCBI Gene database.
Entrez ID 7409
Gene name Vav guanine nucleotide exchange factor 1
Gene symbol VAV1
Synonyms (NCBI Gene)
VAV
Chromosome 19
Chromosome location 19p13.3
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 i
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT029179 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0002768 Process Immune response-regulating cell surface receptor signaling pathway IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity EXP 8990121
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 8990121
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164875 12657 ENSG00000141968
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15498
Protein name Proto-oncogene vav
Protein function Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation.
PDB 2CRH , 2LCT , 2MC1 , 2ROR , 3BJI , 3KY9 , 6NEW , 6NF1 , 6NFA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 1 121 Calponin homology (CH) domain Domain
PF00621 RhoGEF 198 371 RhoGEF domain Domain
PF00169 PH 403 504 PH domain Domain
PF00130 C1_1 516 568 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00018 SH3_1 615 652 SH3 domain Domain
PF00017 SH2 671 745 SH2 domain Domain
PF00018 SH3_1 788 834 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in hematopoietic cells but not in other cell types.
Sequence
MELWRQCTHWLIQCRVLPPSHRVTWDGAQVCELAQALRDGVLLCQLLNNLLPHAINLREV
NLRPQMSQFLCLKNIRTFLSTCCEKFGLKRSELFEAFDLFDVQDFGKVIYTLSALSWTPI
A
QNRGIMPFPTEEESVGDEDIYSGLSDQIDDTVEEDEDLYDCVENEEAEGDEIYEDLMRS
EPVSMPPKMTEYDKRCCCLREIQQTEEKYTDTLGSIQQHFLKPLQRFLKPQDIEIIFINI
EDLLRVHTHFLKEMKEALGTPGAANLYQVFIKYKERFLVYGRYCSQVESASKHLDRVAAA
REDVQMKLEECSQRANNGRFTLRDLLMVPMQRVLKYHLLLQELVKHTQEAMEKENLRLAL
DAMRDLAQCVN
EVKRDNETLRQITNFQLSIENLDQSLAHYGRPKIDGELKITSVERRSKM
DRYAFLLDKALLICKRRGDSYDLKDFVNLHSFQVRDDSSGDRDNKKWSHMFLLIEDQGAQ
GYELFFKTRELKKKWMEQFEMAIS
NIYPENATANGHDFQMFSFEETTSCKACQMLLRGTF
YQGYRCHRCRASAHKECLGRVPPCGRHG
QDFPGTMKKDKLHRRAQDKKRNELGLPKMEVF
QEYYGLPPPPGAIGPFLRLNPGDIVELTKAEAEQNWWEGRNTSTNEIGWFPCNRVKPYVH
GPPQDLSVHLWYAGPMERAGAESILANRSDGTFLVRQRVKDAAEFAISIKYNVEVKHIKI
MTAEGLYRITEKKAFRGLTELVEFY
QQNSLKDCFKSLDTTLQFPFKEPEKRTISRPAVGS
TKYFGTAKARYDFCARDRSELSLKEGDIIKILNKKGQQGWWRGEIYGRVGWFPANYVEED
YSEYC
Sequence length 845
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Focal adhesion
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Yersinia infection
Proteoglycans in cancer
Lipid and atherosclerosis
  GPVI-mediated activation cascade
PIP3 activates AKT signaling
Signaling by SCF-KIT
NRAGE signals death through JNK
Rho GTPase cycle
Regulation of actin dynamics for phagocytic cup formation
Constitutive Signaling by Aberrant PI3K in Cancer
FCERI mediated MAPK activation
FCERI mediated Ca+2 mobilization
CD28 dependent Vav1 pathway
G alpha (12/13) signalling events
VEGFA-VEGFR2 Pathway
Interleukin-3, Interleukin-5 and GM-CSF signaling
VEGFR2 mediated vascular permeability
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Erythropoietin activates RAS
Regulation of signaling by CBL
FCGR3A-mediated phagocytosis
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC BEHAVIOR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 23058036
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 19747912, 27480083, 29532991
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15652748, 19533802
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15652748
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27158780
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 20155735
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma CTD_human_DG 19270706
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 25531316
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia CTD_human_DG 26437031
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis Pubtator 32380774 Associate
★☆☆☆☆
Found in Text Mining only