VAV1基因详情-基因数据库-基因云馆

登录系统

VAV1 (vav guanine nucleotide exchange factor 1)

symbol:: VAV1
locus group:: protein-coding gene
location:: 19p13.3
gene_family:: Pleckstrin homology domain containing|Rho guanine nucleotide exchange factors|SH2 domain containing
alias symbol:: None
alias name:: None
entrez id:: 7409
ensembl gene id:: ENSG00000141968
ucsc gene id:: uc010xjh.3
refseq accession:: NM_001258206
hgnc_id:: HGNC:12657
approved reserved:: 1991-03-04

19p13.3

VAV1是一种重要的信号转导蛋白，属于VAV基因家族（包括VAV1、VAV2和VAV3），该家族成员均为鸟苷酸交换因子（GEFs），能够激活Rho家族GTP酶（如Rac1、RhoA和Cdc42），从而调控细胞骨架重组、细胞迁移和免疫细胞活化等过程。VAV1主要在造血细胞（如T细胞、B细胞和自然杀伤细胞）中表达，其核心功能是通过T细胞受体（TCR）或B细胞受体（BCR）传递信号，促进免疫细胞的发育、增殖和效应功能。VAV1蛋白结构包含多个功能域，如DH域（负责GEF活性）、PH域（介导膜定位）和SH2域（结合磷酸化酪氨酸），这些结构使其能够整合多种上游信号并激活下游通路。VAV1突变或功能异常可能导致免疫缺陷或自身免疫疾病，例如某些T细胞功能不全综合征或类风湿性关节炎。研究发现，VAV1的过度表达可能增强免疫细胞活性，但同时也可能增加自身免疫风险或促进某些血液系统恶性肿瘤（如T细胞白血病）的发生；而VAV1表达降低则可能导致免疫应答减弱，增加感染易感性。在癌症中，VAV1的异常激活可通过促进细胞侵袭和转移参与肿瘤进展。VAV基因家族的共性在于均含有保守的GEF结构域，并能通过调控Rho GTP酶影响细胞形态和运动，但各成员的组织分布和具体功能存在差异（如VAV2/VAV3在非造血组织中更广泛表达）。此外，VAV1还参与调控NF-κB和MAPK等关键信号通路，其功能紊乱与炎症性疾病、过敏反应和癌症免疫逃逸密切相关。

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]

此基因是VAV基因家族的一个成员。在变风量的蛋白质是该激活通路，导致肌动蛋白细胞骨架重排和转录改变Rho家族GTP酶鸟嘌呤核苷酸交换因子（环基金）。所编码的蛋白质是造血的重要，打在T细胞和B细胞发育和活化的作用。所编码的蛋白质已被鉴定为来自HIV-1的Nef蛋白的特异性结合配偶体。共表达和这些伙伴结合发起深刻形态变化，细胞骨架重排和JNK / SAPK信号传导级联，导致增加的病毒转录和复制的水平。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的，2012年4月提供]

OMIM数据库中对VAV1基因的介绍 Wikipedia数据库中对VAV1基因的介绍

VAV1基因的碱基序列：[NCBI]

Loading Gene Browser...

VAV1基因的碱基突变：仅显示部分snp

rs162725 rs162726 rs162727 rs164014 rs164015 rs164016 rs164017 rs164018 rs164019 rs164020 rs164021 rs164022 rs164023 rs164024 rs180864 rs186295 rs308194

VAV1基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

TTTCTACGGCTCAACCCTG

ATGTATTTCTGCCCTCCCAC

CAACAAGAAGTGGAGCCAC

TCTCTTGTCTTGAAGAACAGC

GGAGATGAAGGAAGCCCTG

ATAGACGAGGAACCTCTCCT

GAGATGAAGGAAGCCCTGG

CATAGACGAGGAACCTCTCC

ACAACAAGAAGTGGAGCCA

CTCTTGTCTTGAAGAACAGCTC

CTTTCTACGGCTCAACCCT

TGTATTTCTGCCCTCCCAC

GAGATGAAGGAAGCCCTGG

ATAGACGAGGAACCTCTCCT

GACAACAAGAAGTGGAGCC

TCTTGTCTTGAAGAACAGCTC

TTTCTACGGCTCAACCCTG

TGTATTTCTGCCCTCCCAC

尚未收录相关数据

VAV1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

VAV1基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0005089

A0A0A0MR07 (UniProtKB)

IEA

GO:0005622

A0A0A0MR07 (UniProtKB)

IEA

GO:0005622

A0A0A0MR07 (UniProtKB)

IEA

GO:0007264

A0A0A0MR07 (UniProtKB)

IEA

GO:0035023

A0A0A0MR07 (UniProtKB)

IEA

GO:0043547

A0A0A0MR07 (UniProtKB)

IEA

GO:0043547

A0A0A0MR07 (UniProtKB)

IEA

GO:0046872

A0A0A0MR07 (UniProtKB)

IEA

GO:0005089

F5H5P4 (UniProtKB)

IEA

GO:0005622

F5H5P4 (UniProtKB)

IEA

GO:0005622

F5H5P4 (UniProtKB)

IEA

GO:0007264

F5H5P4 (UniProtKB)

IEA

GO:0035023

F5H5P4 (UniProtKB)

IEA

GO:0043547

F5H5P4 (UniProtKB)

IEA

GO:0043547

F5H5P4 (UniProtKB)

IEA

GO:0046872

F5H5P4 (UniProtKB)

IEA

GO:0003700

P15498 (UniProtKB)

TAS

GO:0005085

P15498 (UniProtKB)

EXP

GO:0005085

P15498 (UniProtKB)

TAS

GO:0005085

P15498 (UniProtKB)

TAS

GO:0005085

P15498 (UniProtKB)

TAS

GO:0005085

P15498 (UniProtKB)

TAS

GO:0005085

P15498 (UniProtKB)

TAS

GO:0005085

P15498 (UniProtKB)

TAS

GO:0005089

P15498 (UniProtKB)

TAS

GO:0005089

P15498 (UniProtKB)

TAS

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005515

P15498 (UniProtKB)

IPI

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005829

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005886

P15498 (UniProtKB)

TAS

GO:0005911

P15498 (UniProtKB)

IEA

GO:0006355

P15498 (UniProtKB)

IEA

GO:0006955

P15498 (UniProtKB)

IEA

GO:0007186

P15498 (UniProtKB)

IEA

GO:0007229

P15498 (UniProtKB)

IEA

GO:0007264

P15498 (UniProtKB)

IEA

GO:0008361

P15498 (UniProtKB)

IGI

GO:0014066

P15498 (UniProtKB)

TAS

GO:0030168

P15498 (UniProtKB)

TAS

GO:0030217

P15498 (UniProtKB)

IEA

GO:0030593

P15498 (UniProtKB)

IEA

GO:0030676

P15498 (UniProtKB)

IEA

GO:0031295

P15498 (UniProtKB)

TAS

GO:0035023

P15498 (UniProtKB)

IEA

GO:0038095

P15498 (UniProtKB)

TAS

GO:0038096

P15498 (UniProtKB)

TAS

GO:0043065

P15498 (UniProtKB)

TAS

GO:0043087

P15498 (UniProtKB)

IGI

GO:0043547

P15498 (UniProtKB)

IEA

GO:0045954

P15498 (UniProtKB)

IEA

GO:0046854

P15498 (UniProtKB)

IEA

GO:0046872

P15498 (UniProtKB)

IEA

GO:0046934

P15498 (UniProtKB)

TAS

GO:0048010

P15498 (UniProtKB)

TAS

GO:0048015

P15498 (UniProtKB)

TAS

GO:0051056

P15498 (UniProtKB)

TAS

GO:0072593

P15498 (UniProtKB)

IEA

GO:0008361

P15498 (UniProtKB)

IGI

GO:0005089

Q96D37 (UniProtKB)

IEA

GO:0005515

Q96D37 (UniProtKB)

IPI

GO:0005622

Q96D37 (UniProtKB)

IEA

GO:0005622

Q96D37 (UniProtKB)

IEA

GO:0007264

Q96D37 (UniProtKB)

IEA

GO:0035023

Q96D37 (UniProtKB)

IEA

GO:0043547

Q96D37 (UniProtKB)

IEA

GO:0043547

Q96D37 (UniProtKB)

IEA

GO:0046872

Q96D37 (UniProtKB)

IEA

可能调控 VAV1基因的相关microRNA：

hsa-miR-26b

Reactome

MINT

BioGrid

IntAct

mentha

String

序号	作用方式	资源库来源/分值	基因名称	基因名称

KEGG
Reactomepathway

名称
4024 cAMP signaling pathway [PATH:hsa04024]
4810 Regulation of actin cytoskeleton [PATH:hsa04810]
4510 Focal adhesion [PATH:hsa04510]
4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650]
4660 T cell receptor signaling pathway [PATH:hsa04660]
4662 B cell receptor signaling pathway [PATH:hsa04662]
4664 Fc epsilon RI signaling pathway [PATH:hsa04664]
4666 Fc gamma R-mediated phagocytosis [PATH:hsa04666]
4670 Leukocyte transendothelial migration [PATH:hsa04670]
4062 Chemokine signaling pathway [PATH:hsa04062]

名称
Adaptive Immune System
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
CD28 co-stimulation
CD28 dependent Vav1 pathway
Cell death signalling via NRAGE, NRIF and NADE
Constitutive Signaling by Aberrant PI3K in Cancer
Costimulation by the CD28 family
Cytokine Signaling in Immune system
DAP12 interactions
DAP12 signaling
Disease
Diseases of signal transduction
Downstream signal transduction
Downstream signaling events of B Cell Receptor (BCR)
Downstream signaling of activated FGFR1
Downstream signaling of activated FGFR2
Downstream signaling of activated FGFR3
Downstream signaling of activated FGFR4
Fc epsilon receptor (FCERI) signaling
FCERI mediated Ca+2 mobilization
FCERI mediated MAPK activation
Fcgamma receptor (FCGR) dependent phagocytosis
G alpha (12/13) signalling events
GAB1 signalosome
GPCR downstream signaling
GPVI-mediated activation cascade
Hemostasis
Innate Immune System
Interleukin-3, 5 and GM-CSF signaling
NGF signalling via TRKA from the plasma membrane
NRAGE signals death through JNK
p75 NTR receptor-mediated signalling
PI-3K cascade:FGFR1
PI-3K cascade:FGFR2
PI-3K cascade:FGFR3
PI-3K cascade:FGFR4
PI3K events in ERBB2 signaling
PI3K events in ERBB4 signaling
PI3K/AKT activation
PI3K/AKT Signaling in Cancer
PIP3 activates AKT signaling
Platelet activation, signaling and aggregation
Regulation of actin dynamics for phagocytic cup formation
Regulation of signaling by CBL
Rho GTPase cycle
Role of LAT2/NTAL/LAB on calcium mobilization
Signaling by EGFR
Signaling by ERBB2
Signaling by ERBB4
Signaling by FGFR
Signaling by FGFR1
Signaling by FGFR2
Signaling by FGFR3
Signaling by FGFR4
Signaling by Interleukins
Signaling by PDGF
Signaling by Rho GTPases
Signaling by SCF-KIT
Signaling by the B Cell Receptor (BCR)
Signaling by VEGF
Signalling by NGF
VEGFA-VEGFR2 Pathway
VEGFR2 mediated vascular permeability

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Medulloblastoma	0.120271442	2	0	BeFree_CTD_human
Adult T-Cell Lymphoma/Leukemia	0.12	1	0	CTD_human
Endometriosis	0.08	1	0	RGD
Diabetes Mellitus, Insulin-Dependent	0.08	1	0	RGD
Lymphopenia	0.08	1	0	RGD
Liver carcinoma	0.08	1	0	RGD
leukemia	0.003538676	4	0	BeFree_LHGDN
Adenocarcinoma	0.003267234	2	0	BeFree_LHGDN
Common Variable Immunodeficiency	0.003267234	2	0	BeFree_LHGDN
Neuroblastoma	0.001085767	4	0	BeFree

联系方式

山东省济南市章丘区文博路2号齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼

电话： 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。

更新于2天前

VAV1 (vav guanine nucleotide exchange factor 1)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

尚未收录相关数据

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关服务

基因相关服务

联系方式

微信公众号