1. Gene
  2. VAV3 - vav guanine nucleotide exchange factor 3 Gene

VAV3 - vav guanine nucleotide exchange factor 3 Gene

中文名称:vav 鸟嘌呤核苷酸交换因子 3

种属: Homo sapiens

基因 ID: 10451 | 基因类型: protein coding

关于 VAV3

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:107,571,161-107,965,180 (from NCBI)

This gene has 15 transcripts (splice variants), 296 orthologues and 22 paralogues. Broad expression in kidney (RPKM 10.0), skin (RPKM 8.3) and 17 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。该基因产物作为 GEF 优先用于 RhoG、RhoA,并在较小程度上作为 RAC1,并且它与这些 GTP 酶的无核苷酸状态最大限度地相关联。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 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. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

VAV3 基因产物(2)

mRNA Protein Name
NM_001079874.2 NP_001073343.1 guanine nucleotide exchange factor VAV3 isoform 2
NM_006113.5 NP_006104.4 guanine nucleotide exchange factor VAV3 isoform 1

VAV3 蛋白结构

CAMSAP_CH

CAMSAP_CH: CAMSAP CH domain (19 - 103)

RhoGEF

RhoGEF: RhoGEF domain (196 - 370)

PH

PH: PH domain (411 - 501)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (514 - 563)

SH3_2

SH3_2: Variant SH3 domain (597 - 658)

SH2

SH2: SH2 domain (672 - 746)

SH3_2

SH3_2: Variant SH3 domain (798 - 845)

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  • 847 a.a.
蛋白主名 其他名称

guanine nucleotide exchange factor VAV3

VAV-3

关联疾病

疾病名称 别名
Anterior Foramen Magnum Meningioma

Meningioma Of The Anterior Foramen Magnum

Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

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
Mus musculus VAV3 MGD MGI:1888518
Bos taurus VAV3 VGNC VGNC:36774
Rattus norvegicus VAV3 RGD RGD:1565941
Canis familiaris VAV3 VGNC VGNC:48237
Macaca mulatta VAV3 VGNC VGNC:78759
Felis catus VAV3 VGNC VGNC:66927