Human Gene VAV1 (ENST00000602142.6_4) from GENCODE V47lift37
  Description: vav guanine nucleotide exchange factor 1, transcript variant 1 (from RefSeq NM_005428.4)
Gencode Transcript: ENST00000602142.6_4
Gencode Gene: ENSG00000141968.8_7
Transcript (Including UTRs)
   Position: hg19 chr19:6,772,719-6,857,372 Size: 84,654 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg19 chr19:6,772,819-6,857,118 Size: 84,300 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:6,772,719-6,857,372)mRNA (may differ from genome)Protein (845 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VAV_HUMAN
DESCRIPTION: RecName: Full=Proto-oncogene vav;
FUNCTION: Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation.
SUBUNIT: May interact with CCPG1 (By similarity). Interacts with APS, DOCK2, GRB2, GRB3, DOCK2, SLA, TEC and ZNF655/VIK. Interacts with SIAH2; without leading to its degradation. Associates with BLNK, PLCG1, GRB2 and NCK1 in a B-cell antigen receptor-dependent fashion. Interacts with CBLB; which inhibits tyrosine phosphorylation and down-regulates activity. Interacts with SHB and CLNK (By similarity). Interacts with THEMIS2. Interacts with HCK (By similarity). Interacts with NEK3 and this interaction is prolactin-dependent. Interacts with ITK. Interacts with PTK2B/PYK2. Interacts (via SH2 domain) with SYK. Interacts with ANKRD54 (By similarity).
INTERACTION: P62993:GRB2; NbExp=2; IntAct=EBI-625518, EBI-401755; Q8N720:ZNF655; NbExp=5; IntAct=EBI-625518, EBI-625509;
TISSUE SPECIFICITY: Widely expressed in hematopoietic cells but not in other cell types.
DOMAIN: The DH domain is involved in interaction with CCPG1 (By similarity).
PTM: Phosphorylated on tyrosine residues by HCK in response to IFNG and bacterial lipopolysaccharide (LPS) (By similarity). Phosphorylated by FYN.
MISCELLANEOUS: 'Vav' stands for the sixth letter of the Hebrew alphabet.
SIMILARITY: Contains 1 CH (calponin-homology) domain.
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 phorbol-ester/DAG-type zinc finger.
SIMILARITY: Contains 1 SH2 domain.
SIMILARITY: Contains 2 SH3 domains.
SEQUENCE CAUTION: Sequence=CAA34383.1; Type=Frameshift; Positions=322, 355;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/VAV1ID195ch19p13.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: VAV1
Diseases sorted by gene-association score: spherocytosis, type 1 (7), common variable immunodeficiency (2), hereditary spherocytosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.96 RPKM in Whole Blood
Total median expression: 206.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.40100-0.434 Picture PostScript Text
3' UTR -102.00254-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001715 - CH-domain
IPR000219 - DH-domain
IPR001331 - GDS_CDC24_CS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR002219 - Prot_Kinase_C-like_PE/DAG-bd
IPR000980 - SH2
IPR001452 - SH3_domain
IPR003096 - SM22_calponin

Pfam Domains:
PF00017 - SH2 domain
PF00018 - SH3 domain
PF00130 - Phorbol esters/diacylglycerol binding domain (C1 domain)
PF00169 - PH domain
PF00307 - Calponin homology (CH) domain
PF00621 - RhoGEF domain
PF07653 - Variant SH3 domain
PF11971 - CAMSAP CH domain
PF14604 - Variant SH3 domain

SCOP Domains:
47576 - Calponin-homology domain, CH-domain
48065 - DBL homology domain (DH-domain)
50044 - SH3-domain
50729 - PH domain-like
55550 - SH2 domain
57889 - Cysteine-rich domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CRH - NMR MuPIT 2LCT - NMR MuPIT 2ROR - NMR MuPIT 3BJI - X-ray MuPIT 3KY9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P15498
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001784 phosphotyrosine binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0030676 Rac guanyl-nucleotide exchange factor activity
GO:0046872 metal ion binding
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity

Biological Process:
GO:0006355 regulation of transcription, DNA-templated
GO:0006909 phagocytosis
GO:0006955 immune response
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007229 integrin-mediated signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0008361 regulation of cell size
GO:0019221 cytokine-mediated signaling pathway
GO:0030168 platelet activation
GO:0030217 T cell differentiation
GO:0030593 neutrophil chemotaxis
GO:0031295 T cell costimulation
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0042110 T cell activation
GO:0043065 positive regulation of apoptotic process
GO:0043087 regulation of GTPase activity
GO:0043547 positive regulation of GTPase activity
GO:0045785 positive regulation of cell adhesion
GO:0045954 positive regulation of natural killer cell mediated cytotoxicity
GO:0046854 phosphatidylinositol phosphorylation
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051897 positive regulation of protein kinase B signaling
GO:0072593 reactive oxygen species metabolic process

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005911 cell-cell junction


-  Descriptions from all associated GenBank mRNAs
  AK225710 - Homo sapiens mRNA for vav 1 oncogene variant, clone: TMS02340.
AK313307 - Homo sapiens cDNA, FLJ93820, highly similar to Homo sapiens vav 1 oncogene (VAV1), mRNA.
AB590871 - Synthetic construct DNA, clone: pFN21AB0426, Homo sapiens VAV1 gene for vav 1 guanine nucleotide exchange factor, without stop codon, in Flexi system.
AK301128 - Homo sapiens cDNA FLJ53479 complete cds, highly similar to Proto-oncogene vav.
BC013361 - Homo sapiens vav 1 guanine nucleotide exchange factor, mRNA (cDNA clone MGC:15356 IMAGE:3842829), complete cds.
CU680580 - Synthetic construct Homo sapiens gateway clone IMAGE:100020435 5' read VAV1 mRNA.
KJ901822 - Synthetic construct Homo sapiens clone ccsbBroadEn_11216 VAV1 gene, encodes complete protein.
JD211505 - Sequence 192529 from Patent EP1572962.
JD220653 - Sequence 201677 from Patent EP1572962.
JD231582 - Sequence 212606 from Patent EP1572962.
JD220674 - Sequence 201698 from Patent EP1572962.
JD537785 - Sequence 518809 from Patent EP1572962.
JD077993 - Sequence 59017 from Patent EP1572962.
JD452346 - Sequence 433370 from Patent EP1572962.
JD475864 - Sequence 456888 from Patent EP1572962.
X16316 - Human mRNA for vav oncogene.
X83931 - H.sapiens mRNA for VAV oncogene.
JD479196 - Sequence 460220 from Patent EP1572962.
JD498446 - Sequence 479470 from Patent EP1572962.
JD519061 - Sequence 500085 from Patent EP1572962.
JD389767 - Sequence 370791 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_rac1Pathway - Rac 1 cell motility signaling pathway
h_fcer1Pathway - Fc Epsilon Receptor I Signaling in Mast Cells
h_plcPathway - Phospholipase C Signaling Pathway
h_tcrPathway - T Cell Receptor Signaling Pathway
h_bcrPathway - BCR Signaling Pathway
h_nkcellsPathway - Ras-Independent pathway in NK cell-mediated cytotoxicity

Reactome (by CSHL, EBI, and GO)

Protein P15498 (Reactome details) participates in the following event(s):

R-HSA-389352 Translocation of Vav1 to CD28
R-NUL-437945 Pig Syk binds human Vav1
R-HSA-879914 IL3 stimulation induces Vav binding to Tec kinase
R-HSA-912727 CBL binds VAV
R-HSA-1433542 Phosphorylation and activation of VAV1
R-HSA-389354 Activation of Vav1
R-NUL-437938 Syk phosphorylates VAV1
R-HSA-430158 p-SLP-76 binds VAV
R-HSA-434637 PIP3 binds stimulating VAV
R-HSA-2029458 Recruitment of VAV1 to p-6Y-SYK
R-HSA-2730892 Recruitment of VAV to p-SLP-76
R-HSA-434633 PIP2 binds inhibiting VAV
R-HSA-437932 p-Y348-SYK binds VAV family
R-HSA-442273 VAV1 is a GEF for Rho/Rac family kinases
R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-2029453 Phosphorylation of VAV
R-HSA-2730888 Phosphorylation of PLC-gamma
R-HSA-2730858 Autophosphorylation of BTK/ITK
R-HSA-2730841 Phosphorylation and activation of VAV
R-HSA-2730885 Recruitment of TEC kinases to p-SLP-76
R-HSA-2730833 Phosphorylation of TEC kinases by p-SYK
R-HSA-5218820 Src kinases phosphorylate VAV
R-HSA-437936 p-Y348-SYK phosphorylates VAV family
R-HSA-389348 Activation of Rac1 by pVav1
R-HSA-389350 Activation of Cdc42 by pVav1
R-HSA-1433415 Activation of RAC1
R-HSA-2730840 Activation of RAC1 by VAV
R-HSA-2730889 Recruitment of PAK to the membrane by binding active RAC1
R-HSA-2730856 Autophosphorylation of PAK
R-HSA-8951586 p-VAV family:PIP3 binds RAC1:GDP
R-HSA-1112666 BLNK (SLP-65) Signalosome hydrolyzes phosphatidyinositol bisphosphate forming diacylglycerol and inositol-1,4,5-trisphosphate
R-HSA-2076220 CD19 Signalosome phosphorylates PI(4,5)P2 forming PI(3,4,5)P3
R-HSA-2730847 Hydrolysis of PIP2 by PLCG
R-HSA-2029451 Activation of RAC1 by VAV
R-HSA-5357483 RAC1 binds PAK1-3
R-HSA-5218850 VAV exchanges GTP for GDP on RAC1, activating it
R-HSA-5357472 PAK1-3 autophosphorylates
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-5357445 PAK1-3 dimer disassociates
R-HSA-389359 CD28 dependent Vav1 pathway
R-HSA-512988 Interleukin-3, 5 and GM-CSF signaling
R-HSA-912631 Regulation of signaling by CBL
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-2871796 FCERI mediated MAPK activation
R-HSA-389356 CD28 co-stimulation
R-HSA-449147 Signaling by Interleukins
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-194138 Signaling by VEGF
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-388841 Costimulation by the CD28 family
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-1280218 Adaptive Immune System
R-HSA-162582 Signal Transduction
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-109582 Hemostasis
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-5218920 VEGFR2 mediated vascular permeability
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-73887 Death Receptor Signalling
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B4DVK9, ENST00000602142.1, ENST00000602142.2, ENST00000602142.3, ENST00000602142.4, ENST00000602142.5, M0QXX6, NM_005428, P15498, Q15860, uc327ggv.1, uc327ggv.2, VAV, VAV_HUMAN
UCSC ID: ENST00000602142.6_4
RefSeq Accession: NM_005428.4
Protein: P15498 (aka VAV_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.