RAC1是致癌基因,编码蛋白(ras相关的C3肉毒杆菌毒素底物1),其是GTP酶的Rho家族的成员,该家族还包括RHO,RAC1和CDC42。RAC1蛋白参与细胞粘附,分化和迁移调节。另外,RAC1参与调控增殖(MAPK途径),炎症反应(NFkB途径)和细胞周期调节的途径。RAC1的活性受鸟嘌呤核苷酸交换因子(GEF)和GTP酶活化蛋白(GAPs)控制,其分别转换GDP用于GTP并引发GTP对GDP的催化作用。RAC1普遍表达,功能获得突变与转移和耐药性过程有关; RAC1突变主要在黑素瘤中发现,并有明确的热点突变,但也在其他癌症中发生。
The RAC1 (ras-related C3 botulinum toxin substrate 1) gene encodes a member of the Rho family of GTPases, which includes RHO, RAC1 and CDC42. Rho GTPases regulate the assembly and disassembly of the cytoskeleton; in this regard, RAC1 plays a role in cell adhesion, differentiation and migration. Additionally, RAC1 is involved in pathways governing proliferation (MAPK pathway), the inflammatory response (NFkB pathway) and regulation of the cell cycle. The activity of RAC1 is controlled by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs), which switch GDP for GTP and trigger catalysis of GTP to GDP, respectively. RAC1 is ubiquitously expressed, and gain-of-function mutations are implicated in processes underlying metastasis and drug-resistance; therefore, RAC1 is a putative drug target. RAC1 mutations are found predominantly in melanoma, but have also been identified in other cancer types. An alternatively spliced and constitutively active version of RAC1, named RAC1B, has been detected in colon and lung cancer.
GeneCards OncoKB My Cancer Genome