Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029179	hsa-miR-26b-5p	Microarray	19088304

Show/Hide all (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
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	8673706, 9047237, 9697839, 10347175, 10394361, 11390470, 12186560, 15345594, 15558030, 16467851, 17306257, 17855053, 18511940, 18692475, 19234221, 20598684, 21725281, 24728074, 29997244
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	1311423
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0006955	Process	Immune response	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008361	Process	Regulation of cell size	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016477	Process	Cell migration	IBA
GO:0030101	Process	Natural killer cell activation	IDA	15169881
GO:0030168	Process	Platelet activation	IEA
GO:0030168	Process	Platelet activation	TAS
GO:0030217	Process	T cell differentiation	IEA
GO:0030593	Process	Neutrophil chemotaxis	IEA
GO:0031295	Process	T cell costimulation	IDA	8484124
GO:0031295	Process	T cell costimulation	TAS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038095	Process	Fc-epsilon receptor signaling pathway	IEA
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	IEA
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042100	Process	B cell proliferation	ISS
GO:0042110	Process	T cell activation	IEA
GO:0042267	Process	Natural killer cell mediated cytotoxicity	IDA	16582911
GO:0045785	Process	Positive regulation of cell adhesion	IEA
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0071466	Process	Cellular response to xenobiotic stimulus	TAS
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0140031	Function	Phosphorylation-dependent protein binding	IEA

MIM	HGNC	e!Ensembl
164875	12657	ENSG00000141968

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
AQNRGIMPFPTEEESVGDEDIYSGLSDQIDDTVEEDEDLYDCVENEEAEGDEIYEDLMRS
EPVSMPPKMTEYDKRCCCLREIQQTEEKYTDTLGSIQQHFLKPLQRFLKPQDIEIIFINI
EDLLRVHTHFLKEMKEALGTPGAANLYQVFIKYKERFLVYGRYCSQVESASKHLDRVAAA
REDVQMKLEECSQRANNGRFTLRDLLMVPMQRVLKYHLLLQELVKHTQEAMEKENLRLAL
DAMRDLAQCVNEVKRDNETLRQITNFQLSIENLDQSLAHYGRPKIDGELKITSVERRSKM
DRYAFLLDKALLICKRRGDSYDLKDFVNLHSFQVRDDSSGDRDNKKWSHMFLLIEDQGAQ
GYELFFKTRELKKKWMEQFEMAISNIYPENATANGHDFQMFSFEETTSCKACQMLLRGTF
YQGYRCHRCRASAHKECLGRVPPCGRHGQDFPGTMKKDKLHRRAQDKKRNELGLPKMEVF
QEYYGLPPPPGAIGPFLRLNPGDIVELTKAEAEQNWWEGRNTSTNEIGWFPCNRVKPYVH
GPPQDLSVHLWYAGPMERAGAESILANRSDGTFLVRQRVKDAAEFAISIKYNVEVKHIKI
MTAEGLYRITEKKAFRGLTELVEFYQQNSLKDCFKSLDTTLQFPFKEPEKRTISRPAVGS
TKYFGTAKARYDFCARDRSELSLKEGDIIKILNKKGQQGWWRGEIYGRVGWFPANYVEED
YSEYC

Sequence length

845

Interactions

View interactions

	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

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs370716087	RCV005928179
Cervical cancer	Uncertain significance	rs374026712	RCV005911126
Clear cell carcinoma of kidney	Benign; Likely benign	rs150109367, rs112350637	RCV005914491 RCV005907962
Familial prostate cancer	Uncertain significance	rs186483354	RCV005932073
Gastric cancer	Uncertain significance; Benign	rs374026712, rs150109367	RCV005911128 RCV005914492
Lung cancer	Likely benign; Benign	rs755460358, rs112350637	RCV005924308 RCV005907963
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	rs374026712	RCV005911127
Malignant tumor of esophagus	Likely benign	rs1407051216	RCV005928603
VAV1-related disorder	Uncertain significance; Benign; Likely benign	rs370586875, rs150109367, rs777550036, rs770187705, rs367965223, rs1046027717, rs56002731, rs45448796, rs28617395, rs117819421, rs141823895, rs146975138, rs142402540, rs36097961	RCV003393970 RCV003948539 RCV004756300 RCV003978821 RCV003410119 RCV004756522 RCV003939196 RCV003972751 RCV003972752 RCV003915417 RCV003940459 RCV003930653 RCV003950438 RCV003962984

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	26160836
Amyloidosis	Associate	32380774
Aortic Aneurysm Abdominal	Associate	25993291
Arthritis Rheumatoid	Associate	32380774
Breast Neoplasms	Associate	23342133, 24905577, 29658179, 32111898
Carcinoma Ovarian Epithelial	Associate	26637171
Carcinoma Pancreatic Ductal	Associate	22253833
Carcinoma Renal Cell	Associate	28029655
Common Variable Immunodeficiency	Inhibit	15817684
Common Variable Immunodeficiency	Associate	23058036, 40703516
GATA2 Deficiency	Associate	34294876
Glioblastoma	Associate	40071076
Hematologic Neoplasms	Associate	8608221
Hepatitis Autoimmune	Stimulate	26986756
Hepatitis B	Associate	16704440
Leukemia	Associate	12393632, 21151158
Leukemia Lymphocytic Chronic B Cell	Associate	16704440
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	8608221
Leukemia Myeloid Acute	Associate	34894858, 8608221
Leukemia Prolymphocytic T Cell	Associate	16704440
Leukemia T Cell	Associate	10849438
Lung Diseases	Associate	27158780
Lung Neoplasms	Associate	22253833, 34252536
Lymphoma B Cell	Stimulate	16704440
Lymphoma T Cell	Associate	28832024
Lymphoma T Cell Cutaneous	Associate	28694326
Lymphoma T Cell Peripheral	Associate	34147695, 35301414
Melanoma	Associate	16397238
Multiple Pterygium Syndrome Autosomal Dominant	Associate	23058036
Neoplasms	Associate	16704440, 22253833, 23342133, 24332539, 29194580, 34252536, 34294876, 34743576, 34894858, 35568781, 40071076
Neuroblastoma	Associate	22253833
Pancreatic Neoplasms	Associate	23537630, 24332539
Pancreatitis	Associate	23342133
Paraparesis Tropical Spastic	Stimulate	26358743
Periodontitis	Associate	27302879
Polycythemia Vera	Associate	8608221
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	29532991
Sarcoma	Associate	33892543, 34294833
Sjogren's Syndrome	Associate	32380774
Tachycardia Atrioventricular Nodal Reentry	Associate	35301414
Uveal melanoma	Associate	34743576
Vasculitis	Associate	32380774

VAV1 (vav guanine nucleotide exchange factor 1)