• Gene id: 7409

Gene Summary

• Gene Symbol: VAV1   Gene   UCSC   Ensembl
• Aliases: VAV
• Gene name: vav guanine nucleotide exchange factor 1
• Alternate names: proto-oncogene vav, vav 1 guanine nucleotide exchange factor, vav 1 oncogene,
• Gene location: 19p13.3 (6772707: 6857365)     Exons: 27     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 604740

Protein Summary

• Protein general information: P15498  
  • Name: Proto oncogene vav
  • Length: 845  
  • Mass: 98314
  • Tissue specificity: Widely expressed in hematopoietic cells but not in other cell types.
• Sequence:

  MELWRQCTHWLIQCRVLPPSHRVTWDGAQVCELAQALRDGVLLCQLLNNLLPHAINLREVNLRPQMSQFLCLKNI
  RTFLSTCCEKFGLKRSELFEAFDLFDVQDFGKVIYTLSALSWTPIAQNRGIMPFPTEEESVGDEDIYSGLSDQID
  DTVEEDEDLYDCVENEEAEGDEIYEDLMRSEPVSMPPKMTEYDKRCCCLREIQQTEEKYTDTLGSIQQHFLKPLQ
  RFLKPQDIEIIFINIEDLLRVHTHFLKEMKEALGTPGAANLYQVFIKYKERFLVYGRYCSQVESASKHLDRVAAA
  REDVQMKLEECSQRANNGRFTLRDLLMVPMQRVLKYHLLLQELVKHTQEAMEKENLRLALDAMRDLAQCVNEVKR
  DNETLRQITNFQLSIENLDQSLAHYGRPKIDGELKITSVERRSKMDRYAFLLDKALLICKRRGDSYDLKDFVNLH
  SFQVRDDSSGDRDNKKWSHMFLLIEDQGAQGYELFFKTRELKKKWMEQFEMAISNIYPENATANGHDFQMFSFEE
  TTSCKACQMLLRGTFYQGYRCHRCRASAHKECLGRVPPCGRHGQDFPGTMKKDKLHRRAQDKKRNELGLPKMEVF
  QEYYGLPPPPGAIGPFLRLNPGDIVELTKAEAEQNWWEGRNTSTNEIGWFPCNRVKPYVHGPPQDLSVHLWYAGP
  MERAGAESILANRSDGTFLVRQRVKDAAEFAISIKYNVEVKHIKIMTAEGLYRITEKKAFRGLTELVEFYQQNSL
  KDCFKSLDTTLQFPFKEPEKRTISRPAVGSTKYFGTAKARYDFCARDRSELSLKEGDIIKILNKKGQQGWWRGEI
  YGRVGWFPANYVEEDYSEYC

• Structural information:
  • Protein Domains: (1..11-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (194..37-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (402..50-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR022613  IPR001715  IPR036872  IPR035899  IPR000219   IPR001331  IPR002219  IPR011993  IPR001849  IPR037832  IPR000980  IPR036860  IPR036028  IPR001452  IPR003096  IPR028530  IPR035879  IPR035730  IPR035729  
  • Prosite: PS50021 PS00741 PS50010 PS50003 PS50001 PS50002 PS00479 PS50081
  • CDD: cd00029 cd01223 cd00160 cd10405 cd11979 cd11976
  • PDB: 2CRH 2LCT 2MC1 2ROR 3BJI 3KY9 6NEW 6NF1 6NFA
  • PDBsum: 2CRH 2LCT 2MC1 2ROR 3BJI 3KY9 6NEW 6NF1 6NFA
  • DIP: 1061
  • STRING: ENSP00000472929
• Other Databases: GeneCards:  VAV1  Malacards:  VAV1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	EXP	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0046579	positive regulation of Ras protein signal transduction	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0031295	T cell costimulation	TAS	biological process
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042110	T cell activation	IEA	biological process
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030593	neutrophil chemotaxis	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0072593	reactive oxygen species metabolic process	IEA	biological process
GO:0045954	positive regulation of natural killer cell mediated cytotoxicity	IEA	biological process
GO:0045785	positive regulation of cell adhesion	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0008361	regulation of cell size	IGI	biological process
GO:0008361	regulation of cell size	IGI	NOT|biological process
GO:0043087	regulation of GTPase activity	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa04062	Chemokine signaling pathway
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer
hsa05135	Yersinia infection
hsa04670	Leukocyte transendothelial migration
hsa04650	Natural killer cell mediated cytotoxicity
hsa04660	T cell receptor signaling pathway
hsa04666	Fc gamma R-mediated phagocytosis
hsa04662	B cell receptor signaling pathway
hsa04664	Fc epsilon RI signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R