1. Gene
  2. VAV1 - vav guanine nucleotide exchange factor 1 Gene

VAV1 - vav guanine nucleotide exchange factor 1 Gene

中文名称:vav 鸟嘌呤核苷酸交换因子 1

种属: Homo sapiens

同用名: VAV

基因 ID: 7409 | 基因类型: protein coding

关于 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.

功能概要

该基因是 VAV 基因家族的成员。 VAV 蛋白是 Rho 家族 GTP 酶的鸟嘌呤核苷酸交换因子 (GEF) ,可激活导致肌动蛋白细胞骨架重排和转录改变的通路。编码的蛋白质在造血作用中很重要,在 T 细胞和 B 细胞的发育和激活中发挥作用。编码的蛋白质已被确定为来自 HIV-1 的 Nef 蛋白的特异性结合伙伴。这些合作伙伴的共表达和结合会引发深刻的形态变化、细胞骨架重排和 JNK/SAPK 信号级联,从而导致病毒转录和复制水平提高。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity EXP
EXP: 通过实验结果推断
8990121 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
8990121 GOA
enables phosphotyrosine residue binding IPI
IPI: 通过物理相互作用推断
20624904 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8673706 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in T cell costimulation IDA
IDA: 通过直接分析推断
8484124 GOA
involved in natural killer cell activation IDA
IDA: 通过直接分析推断
15169881 GOA
involved in natural killer cell mediated cytotoxicity IDA
IDA: 通过直接分析推断
16582911 GOA
involved in regulation of GTPase activity IGI
IGI: 通过遗传相互作用推断
22467863 GOA
NOT involved in regulation of cell size IGI
IGI: 通过遗传相互作用推断
22467863 GOA
involved in regulation of cell size IGI
IGI: 通过遗传相互作用推断
22467863 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cytoplasm IDA
IDA: 通过直接分析推断
1311423 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

VAV1 蛋白结构

CAMSAP_CH

CAMSAP_CH: CAMSAP CH domain (19 - 102)

RhoGEF

RhoGEF: RhoGEF domain (198 - 372)

PH

PH: PH domain (405 - 504)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (516 - 565)

SH3_1

SH3_1: SH3 domain (617 - 652)

SH2

SH2: SH2 domain (671 - 745)

SH3_1

SH3_1: SH3 domain (788 - 834)

  • 0
  • 200
  • 400
  • 600
  • 845 a.a.
蛋白主名 其他名称

proto-oncogene vav

vav 1 guanine nucleotide exchange factor

VAV1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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