RAC1(Ras-related C3 botulinum toxin substrate 1)属于Rho家族的小GTP酶基因家族,该家族成员在细胞信号传导中起关键作用,主要调控细胞骨架重组、细胞迁移、增殖和存活等过程。RAC1通过切换GDP结合(失活)和GTP结合(激活)状态来调控下游效应蛋白,影响肌动蛋白动力学、膜皱褶形成和细胞极性。其表达产物是一种分子开关蛋白,广泛分布于多种组织,尤其在神经系统和免疫系统中发挥重要作用。RAC1的突变可能导致功能异常,如持续激活突变(如P29S)与黑色素瘤、乳腺癌等癌症相关,而功能丧失突变可能影响神经发育或免疫细胞功能。过表达RAC1会增强细胞迁移和侵袭能力,促进肿瘤转移,还可能通过激活PAK1和NF-κB等通路加剧炎症反应;降低表达则可能导致细胞运动缺陷、突触形成障碍或免疫细胞功能受损。在神经系统中,RAC1调节树突棘形态发生,其表达异常与阿尔茨海默病和精神分裂症有关。Rho家族基因的共性包括:均含GTP酶结构域,受GEF(鸟苷酸交换因子)、GAP(GTP酶激活蛋白)和GDI(鸟苷酸解离抑制因子)调控,并通过调控细胞骨架参与细胞形态和运动。此外,RAC1与CDC42和RHOA等家族成员存在功能交叉,共同协调复杂细胞行为。
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RAC1基因(以及对应的蛋白质)的细胞分布位置:
RAC1基因的本体(GO)信息:
| 名称 |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4310 Wnt signaling pathway [PATH:hsa04310] |
| 4370 VEGF signaling pathway [PATH:hsa04370] |
| 4071 Sphingolipid signaling pathway [PATH:hsa04071] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4145 Phagosome [PATH:hsa04145] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4520 Adherens junction [PATH:hsa04520] |
| 4620 Toll-like receptor signaling pathway [PATH:hsa04620] |
| 4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
| 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] |
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 4722 Neurotrophin signaling pathway [PATH:hsa04722] |
| 4360 Axon guidance [PATH:hsa04360] |
| 4380 Osteoclast differentiation [PATH:hsa04380] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5231 Choline metabolism in cancer [PATH:hsa05231] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5210 Colorectal cancer [PATH:hsa05210] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 5211 Renal cell carcinoma [PATH:hsa05211] |
| 5014 Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014] |
| 5416 Viral myocarditis [PATH:hsa05416] |
| 4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
| 5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
| 5132 Salmonella infection [PATH:hsa05132] |
| 5131 Shigellosis [PATH:hsa05131] |
| 5100 Bacterial invasion of epithelial cells [PATH:hsa05100] |
| 名称 |
|---|
| Activation of Rac |
| Adaptive Immune System |
| Axon guidance |
| beta-catenin independent WNT signaling |
| CD28 co-stimulation |
| CD28 dependent Vav1 pathway |
| Cell death signalling via NRAGE, NRIF and NADE |
| Cell-Cell communication |
| Costimulation by the CD28 family |
| DAP12 interactions |
| DAP12 signaling |
| DCC mediated attractive signaling |
| Developmental Biology |
| Disease |
| DSCAM interactions |
| EPH-ephrin mediated repulsion of cells |
| EPH-Ephrin signaling |
| EPHB-mediated forward signaling |
| Ephrin signaling |
| Factors involved in megakaryocyte development and platelet production |
| Fc epsilon receptor (FCERI) signaling |
| FCERI mediated MAPK activation |
| Fcgamma receptor (FCGR) dependent phagocytosis |
| G alpha (12/13) signalling events |
| GPCR downstream signaling |
| GPVI-mediated activation cascade |
| Hemostasis |
| HIV Infection |
| Host Interactions of HIV factors |
| Immune System |
| Inactivation of Cdc42 and Rac |
| Infectious disease |
| Innate Immune System |
| L1CAM interactions |
| Membrane Trafficking |
| Nef and signal transduction |
| Netrin-1 signaling |
| NRAGE signals death through JNK |
| p75 NTR receptor-mediated signalling |
| PCP/CE pathway |
| Platelet activation, signaling and aggregation |
| Regulation of actin dynamics for phagocytic cup formation |
| Rho GTPase cycle |
| RHO GTPase Effectors |
| RHO GTPases activate CIT |
| RHO GTPases Activate Formins |
| RHO GTPases activate IQGAPs |
| RHO GTPases activate KTN1 |
| RHO GTPases Activate NADPH Oxidases |
| RHO GTPases activate PAKs |
| RHO GTPases activate PKNs |
| RHO GTPases Activate WASPs and WAVEs |
| Sema3A PAK dependent Axon repulsion |
| SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion |
| Sema4D in semaphorin signaling |
| Sema4D induced cell migration and growth-cone collapse |
| Sema4D mediated inhibition of cell attachment and migration |
| Semaphorin interactions |
| Signal transduction by L1 |
| Signaling by GPCR |
| Signaling by Rho GTPases |
| Signaling by Robo receptor |
| Signaling by SCF-KIT |
| Signaling by VEGF |
| Signaling by Wnt |
| Signalling by NGF |
| The role of Nef in HIV-1 replication and disease pathogenesis |
| Translocation of GLUT4 to the plasma membrane |
| VEGFA-VEGFR2 Pathway |
| VEGFR2 mediated vascular permeability |
| Vesicle-mediated transport |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Heart failure | 0.2 | 2 | 0 | CTD_human_RGD |
| Neoplasm Metastasis | 0.132224816 | 36 | 0 | BeFree_CTD_human_LHGDN |
| melanoma | 0.125981653 | 13 | 0 | BeFree_CTD_human_LHGDN |
| Liver carcinoma | 0.12408156 | 6 | 0 | BeFree_CTD_human_LHGDN |
| Cardiomyopathy, Dilated | 0.12 | 1 | 0 | CTD_human |
| Liver diseases | 0.12 | 1 | 0 | CTD_human |
| Neoplastic Cell Transformation | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus | 0.12 | 1 | 0 | CTD_human |
| Left Ventricular Hypertrophy | 0.08 | 1 | 0 | RGD |
| Mammary Neoplasms | 0.014436077 | 8 | 0 | BeFree_LHGDN |
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