VAV1 - vav guanine nucleotide exchange factor 1 Gene

Homo sapiens

Also known as VAV

Gene ID: 7409 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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
845 a.a.

Protein Preferred Names

Protein Names

proto-oncogene vav

vav 1 guanine nucleotide exchange factor

VAV1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15612	VAV1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-168624	VAV1 degrader-2		/	Unkown
HY-168625	VAV1 degrader-3		/	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

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