VAV1 - vav guanine nucleotide exchange factor 1 Gene

Also Known as VAV

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7409

About VAV1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:6,772,708-6,857,361 (from NCBI)

This gene has 10 transcripts (splice variants), 209 orthologues, 22 paralogues and is associated with 72 phenotypes. Broad expression in lymph node (RPKM 23.7), appendix (RPKM 21.5) and 16 other tissues.

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 is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]

VAV1 Products (3)

mRNA	Protein	Name
NM_001258206.2	NP_001245135.1	proto-oncogene vav isoform 2
NM_001258207.2	NP_001245136.1	proto-oncogene vav isoform 3
NM_005428.4	NP_005419.2	proto-oncogene vav isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables guanyl-nucleotide exchange factor activity	EXP EXP: Inferred from Experiment	8990121	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	8990121	GOA
enables phosphotyrosine residue binding	IPI IPI: Inferred from physical interaction	20624904	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8673706	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in T cell costimulation	IDA IDA: Inferred from direct assay	8484124	GOA
involved in natural killer cell activation	IDA IDA: Inferred from direct assay	15169881	GOA
involved in natural killer cell mediated cytotoxicity	IDA IDA: Inferred from direct assay	16582911	GOA
involved in regulation of GTPase activity	IGI IGI: Inferred from genetic interaction	22467863	GOA
NOT involved in regulation of cell size	IGI IGI: Inferred from genetic interaction	22467863	GOA
involved in regulation of cell size	IGI IGI: Inferred from genetic interaction	22467863	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytoplasm	IDA IDA: Inferred from direct assay	1311423	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VAV1 Protein Structure

CAMSAP_CH

RhoGEF

C1_1

SH3_1

SH2

SH3_1

0
200
400
600
800
845 a.a.

Protein Preferred Names	Protein Names
proto-oncogene vav	vav 1 guanine nucleotide exchange factor

VAV1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	VAV1	P15498	KHDRBS1	Homo sapiens	Q07666	Anti Bait CoIP	17855053
Intra	VAV1	P15498	KHDRBS1	Homo sapiens	Q07666	Pull Down	17855053
Intra	VAV1	P15498	LCP2	Homo sapiens	Q13094	CoIP	8673706
Intra	VAV1	P15498	LCP2	Homo sapiens	Q13094	Pull Down	10347175
Intra	VAV1	P15498	LCP2	Homo sapiens	Q13094	Pull Down	9047237
Intra	VAV1	P15498	ABL1	Homo sapiens	P00519	Anti Bait CoIP	19234221
Intra	VAV1	P15498	GRB2	Homo sapiens	P62993	Pull Down	15558030
Intra	VAV1	P15498	GRB2	Homo sapiens	P62993	Y2H Pooling	18692475
Intra	VAV1	P15498	RAC1	Homo sapiens	P63000	X-Ray Diffraction	18511940
Intra	VAV1	P15498	GAB1	Homo sapiens	Q13480	FPS	24728074
Intra	VAV1	P15498	ZNF655	Homo sapiens	Q8N720	Y2H	15558030
Intra	VAV1	P15498	SH3BP2	Homo sapiens	P78314	Pull Down	11390470
Intra	VAV1	P15498	SH3BP2	Homo sapiens	P78314	Y2H	17306257
Intra	VAV1	P15498	SH3BP2	Homo sapiens	P78314	Anti Tag CoIP	15345594

Cross: Cross-species interaction Intra: Intraspecies interaction

VAV1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810787	Phospho-VAV1 (Tyr174) Antibody (YA10030)	WB, ICC/IF	Human
HY-P82416	VAV1 Antibody (YA2161)	WB, ICC/IF, IP, FC	Human
HY-P84113	VAV1 Antibody (YA3810)	WB, FC, ELISA	Human
HY-P84113A	VAV1 Antibody (YA3810)(PBS only)	WB, FC, ELISA	Human

Related Diseases

Diseases	Alias
Wiskott-Aldrich Syndrome	WAS Eczema-Thrombocytopenia-Immunodeficiency Syndrome Immunodeficiency 2 Aldrich Syndrome Imd2 Wiskott-Aldrich Syndrome 1 Was1 Wiskott Syndrome Wiskott Aldrich Syndrome Eczema Thrombocytopenia Immunodeficiency Syndrome Imd 2
Immunodeficiency 17	IMD17 Cd3-Gamma Deficiency Scid-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, Nk Cell-Positive Combined Immunodeficiency Due To Cd3gamma Deficiency Immunodeficiency 17, Cd3 Gamma Deficient Cd3gamma Deficiency Immunodeficiency, Type 17
Chronic Inflammatory Demyelinating Polyneuritis	Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Common Variable Immunodeficiency	Cvid Common Variable Agammaglobulinemia Common Variable Immune Deficiency Acquired Hypogammaglobulinemia Hypogamma-Globulinemia, Acquired Idiopathic Immunoglobulin Deficiency Primary Antibody Deficiency Primary Hypogammaglobulinemia Acquired Agammaglobulinemia Sporadic Hypogammaglobulinemia Common Variable Hypogamma-Globulinemia Immunoglobulin Deficiency, Late-Onset Common Variable Hypogammaglobulinemia Immunodeficiency, Common Variable
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Burkitt Lymphoma	Burkitt'S Lymphoma BL Burkitt Lymphoma, Somatic Burkitt Lymphoma/Leukaemia Burkitt'S Tumor Burkitt'S Tumor Or Lymphoma Malignant Lymphoma, Burkitt'S Type Small Non-Cleaved Cell Lymphoma, Burkitt'S Type Small Non-Cleaved Cell Lymphoma Burkitt Tumor Burkitts Lymphoma Lymphoma, Small Noncleaved-Cell Burkitt Tumour Diffuse Small Noncleaved Malignant Burkitt Lymphoma Malignant Burkitt Lymphoma “Burkitt-Like” Lymphoma Undifferentiated Burkitt Lymphoma Small Noncleaved Cell Burkitt Lymphoma
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia 4 AGM4 Agammaglobulinemia, Autosomal Recessive, Due To Blnk Defect B Cell Linker Protein Deficiency B-Cell Linker Protein Deficiency Blnk Deficiency Agammaglobulinemia Autosomal Recessive Due To Blnk Defect Agammaglobulinemia, Type 4, Autosomal Recessive
T-Cell Acute Lymphoblastic Leukemia	T-Cell Leukemia Acute T Cell Leukemia Precursor T Lymphoblastic Leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia T Acute Lymphoblastic Leukemia T-Cell Acute Lymphocytic Leukaemia T-Cell Lymphoblastic Leukemia/Lymphoma Leukemia T-Cell Leukemia, T-Cell Leukemia, Acute, Lymphoblastic, T-Cell Leukemia, T-Cell Acute Lymphoblastic Leukemia, Acute T-Cell Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Precursor T-Cell Lymphoblastic Lymphoma Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma
Neuropathy, Hereditary Sensory, Type Id	HSN1D Hereditary Sensory Neuropathy Type 1d Neuropathy, Hereditary Sensory, Type 1d Neuropathy, Hereditary Sensory, 1d Hereditary Sensory Neuropathy Type Id Neuropathy, Sensory, Hereditary, Type Id
Cd45 Deficiency
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
Angioimmunoblastic T-Cell Lymphoma	Immunoblastic Lymphadenopathy Lymphogranulomatosis X T-Cell Lymphoma, Aild Type Aitl Ailt Angioimmunoblastic Lymphadenopathy Aild - [Angioimmunoblastic Lymphadenopathy With Dysproteinaemia] Angioimmunoblastic Lymphoma
T-Cell Adult Acute Lymphocytic Leukemia	Acute Adult T-Cell Leukemia-Lymphoma Adult Precursor T Lymphoblastic Leukemia Atll T-Cell Adult Acute Lymphoblastic Leukemia
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-168625	MRT-6160		99.51%	Unkown
HY-131598C	6-Thio-GTP tetrasodium	Inhibitor	99.7%	Unkown
HY-168624	VAV1 degrader-2		98.15%	Unkown
HY-175453	MRT-23227		99.45%	Unkown
HY-RS15612	VAV1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-179119	AB19	Inhibitor	/	Unkown
HY-182765	VAV1 degrader-4		/	Unkown
HY-RS20834	Vav1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27348	Vav1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	VAV1	VGNC	VGNC:48236
Macaca mulatta	VAV1	VGNC	VGNC:78757
Rattus norvegicus	VAV1	RGD	RGD:3951
Mus musculus	VAV1	MGD	MGI:98923
Bos taurus	VAV1	VGNC	VGNC:36772
Felis catus	VAV1	VGNC	VGNC:66925
Others	VAV1	NCBI