NCK1(也称为NCK adaptor protein 1)是一种重要的衔接蛋白,属于NCK基因家族,该家族还包括NCK2。NCK家族成员的主要共性是作为信号转导中的关键衔接分子,通过其SH2和SH3结构域与其他蛋白质相互作用,参与调控细胞骨架重组、细胞迁移、增殖和分化等过程。NCK1广泛表达于多种组织中,尤其在发育和免疫系统中发挥重要作用。它通过结合磷酸化的酪氨酸残基(如生长因子受体或激酶)招募下游效应蛋白,激活RAS-MAPK、PAK和WASp等信号通路,从而影响肌动蛋白动力学和细胞运动。NCK1的突变或表达异常可能导致功能紊乱,例如错义突变可能破坏其与配体的结合能力,影响信号传导。研究发现NCK1与多种疾病相关,包括癌症(如乳腺癌、肺癌)、免疫缺陷和神经系统疾病。在癌症中,NCK1过表达可能促进肿瘤细胞侵袭和转移,而敲低NCK1可抑制这些表型。此外,NCK1还参与血管生成和炎症反应,其表达水平变化可能影响VEGF和趋化因子信号。在发育中,NCK1缺失会导致小鼠胚胎血管形成缺陷和神经嵴细胞迁移异常。NCK1与NCK2功能部分冗余,但组织分布和特定通路偏好存在差异。例如,NCK1在血小板中更丰富,而NCK2在神经元中作用更突出。总体而言,NCK1是细胞信号网络的核心调节者,其表达失衡可能通过干扰细胞骨架和生长信号导致病理状态,成为潜在的治疗靶点。
The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010]
由该基因编码的蛋白质是信令和含有Src同源2和3(SH2和SH3结构)域变换蛋白之一。它位于细胞质,是参与转导的受体酪氨酸激酶信号到下游信号接收者,如RAS的衔接蛋白。已发现编码不同亚型选择性剪接转录变异体。 [由RefSeq的,2010年6月提供]
NCK1基因(以及对应的蛋白质)的细胞分布位置:
NCK1基因的本体(GO)信息:
| 名称 |
|---|
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4660 T cell receptor signaling pathway [PATH:hsa04660] |
| 4360 Axon guidance [PATH:hsa04360] |
| 5130 Pathogenic Escherichia coli infection [PATH:hsa05130] |
| 名称 |
|---|
| Activation of Rac |
| Adaptive Immune System |
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
| Axon guidance |
| Cell-Cell communication |
| DCC mediated attractive signaling |
| Developmental Biology |
| Downstream signal transduction |
| Fcgamma receptor (FCGR) dependent phagocytosis |
| Generation of second messenger molecules |
| Immune System |
| Innate Immune System |
| Nephrin interactions |
| Netrin-1 signaling |
| Regulation of actin dynamics for phagocytic cup formation |
| RHO GTPase Effectors |
| RHO GTPases Activate WASPs and WAVEs |
| Signaling by PDGF |
| Signaling by Rho GTPases |
| Signaling by Robo receptor |
| Signaling by the B Cell Receptor (BCR) |
| Signaling by VEGF |
| TCR signaling |
| VEGFA-VEGFR2 Pathway |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Albuminuria | 0.12 | 1 | 0 | CTD_human |
| Proteinuria | 0.12 | 1 | 0 | CTD_human |
| Nephrotic Syndrome | 0.12 | 1 | 0 | CTD_human |
| Wiskott-Aldrich Syndrome | 0.00272435 | 1 | 0 | LHGDN |
| Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
| Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
| Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
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