• Gene id: 10451

Gene Summary

• Gene Symbol: VAV3   Gene   UCSC   Ensembl
• Gene name: vav guanine nucleotide exchange factor 3
• Alternate names: guanine nucleotide exchange factor VAV3, VAV-3, vav 3 guanine nucleotide exchange factor, vav 3 oncogene,
• Gene location: 1p13.3 (107965179: 107571160)     Exons: 33     NC_000001.11
• 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. This gene product act
• OMIM: 605541

Protein Summary

• Protein general information: Q9UKW4  
  • Name: Guanine nucleotide exchange factor VAV3 (VAV 3)
  • Length: 847  
  • Mass: 97776
  • Tissue specificity: Isoform 1 and isoform 3 are widely expressed; both are expressed at very low levels in skeletal muscle. In keratinocytes, isoform 1 is less abundant than isoform 3. Isoform 3 is detected at very low levels, if any, in adrenal gland, bo
• Sequence:

  MEPWKQCAQWLIHCKVLPTNHRVTWDSAQVFDLAQTLRDGVLLCQLLNNLRAHSINLKEINLRPQMSQFLCLKNI
  RTFLTACCETFGMRKSELFEAFDLFDVRDFGKVIETLSRLSRTPIALATGIRPFPTEESINDEDIYKGLPDLIDE
  TLVEDEEDLYDCVYGEDEGGEVYEDLMKAEEAHQPKCPENDIRSCCLAEIKQTEEKYTETLESIEKYFMAPLKRF
  LTAAEFDSVFINIPELVKLHRNLMQEIHDSIVNKNDQNLYQVFINYKERLVIYGQYCSGVESAISSLDYISKTKE
  DVKLKLEECSKRANNGKFTLRDLLVVPMQRVLKYHLLLQELVKHTTDPTEKANLKLALDAMKDLAQYVNEVKRDN
  ETLREIKQFQLSIENLNQPVLLFGRPQGDGEIRITTLDKHTKQERHIFLFDLAVIVCKRKGDNYEMKEIIDLQQY
  KIANNPTTDKENKKWSYGFYLIHTQGQNGLEFYCKTKDLKKKWLEQFEMALSNIRPDYADSNFHDFKMHTFTRVT
  SCKVCQMLLRGTFYQGYLCFKCGARAHKECLGRVDNCGRVNSGEQGTLKLPEKRTNGLRRTPKQVDPGLPKMQVI
  RNYSGTPPPALHEGPPLQLQAGDTVELLKGDAHSLFWQGRNLASGEVGFFPSDAVKPCPCVPKPVDYSCQPWYAG
  AMERLQAETELINRVNSTYLVRHRTKESGEYAISIKYNNEAKHIKILTRDGFFHIAENRKFKSLMELVEYYKHHS
  LKEGFRTLDTTLQFPYKEPEHSAGQRGNRAGNSLLSPKVLGIAIARYDFCARDMRELSLLKGDVVKIYTKMSANG
  WWRGEVNGRVGWFPSTYVEEDE

• Structural information:
  • Protein Domains: (1..11-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (192..37-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (400..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  IPR035881  IPR035734  
  • Prosite: PS50021 PS00741 PS50010 PS50003 PS50001 PS50002 PS00479 PS50081
  • CDD: cd00029 cd00014 cd01223 cd00160 cd10407 cd11978
  • PDB: 2D86
  • PDBsum: 2D86
  • STRING: ENSP00000359073
• Other Databases: GeneCards:  VAV3  Malacards:  VAV3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001772	immunological synapse	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
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:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	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:0030168	platelet activation	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:0048013	ephrin 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:0043552	positive regulation of phosphatidylinositol 3-kinase activity	IEA	biological process
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030593	neutrophil chemotaxis	IEA	biological process
GO:0030032	lamellipodium assembly	IEA	biological process
GO:0030031	cell projection assembly	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0006906	vesicle fusion	IEA	biological process
GO:0005154	epidermal growth factor receptor binding	IEA	molecular function
GO:0045785	positive regulation of cell adhesion	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0042493	response to drug	IMP	biological process
GO:0030890	positive regulation of B cell proliferation	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
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:0050853	B cell receptor signaling pathway	IMP	biological process

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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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