CDC42(Cell Division Cycle 42)是一种小GTP酶,属于Rho家族(Rho family of GTPases)的成员。该家族主要参与调控细胞骨架重组、细胞迁移、细胞极性和细胞周期等过程。CDC42通过切换其活性状态(与GTP结合时为激活态,与GDP结合时为失活态)来调控下游信号通路。其表达产物是一种关键的信号转导蛋白,广泛分布于各种组织中,尤其在神经系统和免疫系统中发挥重要作用。CDC42的主要作用位点包括细胞膜、细胞质和细胞突起(如丝状伪足和片状伪足),通过与效应蛋白(如PAK、WASP和IQGAP)相互作用来调节肌动蛋白(actin)的动态组装。突变可能影响CDC42的功能,例如某些错义突变(如F28L和Y64C)会导致其持续激活或失活,进而引发疾病。CDC42功能异常与多种疾病相关,包括神经发育障碍(如智力障碍和自闭症)、癌症(如乳腺癌和结直肠癌)和免疫缺陷(如Wiskott-Aldrich综合征)。当CDC42过表达时,可能促进细胞迁移和侵袭,增加肿瘤转移风险;同时可能破坏细胞极性,影响组织形态发生。降低CDC42表达则可能导致细胞运动能力下降、细胞周期停滞或凋亡增加。在基因家族层面,Rho家族成员(如RhoA、Rac1)均通过调控细胞骨架和细胞黏附来影响细胞行为,但CDC42更侧重于细胞极性建立和膜运输的协调。专业术语解释:小GTP酶(small GTPase)是一类分子开关蛋白,通过结合GTP或GDP切换功能状态;肌动蛋白(actin)是细胞骨架的主要成分,参与细胞形态维持和运动;效应蛋白(effector proteins)是直接受GTP酶调控的下游信号分子。目前中文术语中"效应蛋白"有时也被称为"效应子"(effector)。
The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]
由该基因编码的蛋白质是的Rho-亚科,其调节信令控制多种细胞功能,包括细胞形态,迁移,内吞作用和细胞周期进展的途径的小GTP酶。该蛋白质是高度相似酿酒酵母中华网42,并且能够以补充酵母cdc42-1突变体。癌基因海湾干线的产物报特意从该蛋白催化GDP的解离。这种蛋白可以通过直接结合神经Wiskott-Aldrich公司综合征蛋白(N-WASP),随后激活Arp2 / 3复合调节肌动蛋白聚合。这个基因的选择性剪接的结果在多个转录变体。这个基因的假基因已被确定时,[通过的RefSeq,2013年4月提供]染色体3 4,5,7,8和20。
CDC42基因(以及对应的蛋白质)的细胞分布位置:
CDC42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] |
4370 VEGF signaling pathway [PATH:hsa04370] |
4144 Endocytosis [PATH:hsa04144] |
4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
4510 Focal adhesion [PATH:hsa04510] |
4520 Adherens junction [PATH:hsa04520] |
4530 Tight junction [PATH:hsa04530] |
4660 T cell receptor signaling pathway [PATH:hsa04660] |
4666 Fc gamma R-mediated phagocytosis [PATH:hsa04666] |
4670 Leukocyte transendothelial migration [PATH:hsa04670] |
4062 Chemokine signaling pathway [PATH:hsa04062] |
4912 GnRH signaling pathway [PATH:hsa04912] |
4722 Neurotrophin signaling pathway [PATH:hsa04722] |
4360 Axon guidance [PATH:hsa04360] |
5200 Pathways in cancer [PATH:hsa05200] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5203 Viral carcinogenesis [PATH:hsa05203] |
5212 Pancreatic cancer [PATH:hsa05212] |
5211 Renal cell carcinoma [PATH:hsa05211] |
4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
5130 Pathogenic Escherichia coli infection [PATH:hsa05130] |
5132 Salmonella infection [PATH:hsa05132] |
5131 Shigellosis [PATH:hsa05131] |
5100 Bacterial invasion of epithelial cells [PATH:hsa05100] |
名称 |
---|
Adaptive Immune System |
Axon guidance |
CD28 co-stimulation |
CD28 dependent Vav1 pathway |
CDO in myogenesis |
Costimulation by the CD28 family |
DCC mediated attractive signaling |
Developmental Biology |
EGFR downregulation |
EPH-Ephrin signaling |
EPHB-mediated forward signaling |
Factors involved in megakaryocyte development and platelet production |
Fcgamma receptor (FCGR) dependent phagocytosis |
G alpha (12/13) signalling events |
GPCR downstream signaling |
GPVI-mediated activation cascade |
Hemostasis |
Immune System |
Inactivation of Cdc42 and Rac |
Innate Immune System |
Myogenesis |
Netrin-1 signaling |
Platelet activation, signaling and aggregation |
Regulation of actin dynamics for phagocytic cup formation |
Rho GTPase cycle |
RHO GTPase Effectors |
RHO GTPases Activate Formins |
RHO GTPases activate IQGAPs |
RHO GTPases activate KTN1 |
RHO GTPases activate PAKs |
RHO GTPases Activate WASPs and WAVEs |
Sema4D in semaphorin signaling |
Sema4D induced cell migration and growth-cone collapse |
Semaphorin interactions |
Signal Transduction |
Signaling by EGFR |
Signaling by GPCR |
Signaling by Rho GTPases |
Signaling by Robo receptor |
Signaling by VEGF |
VEGFA-VEGFR2 Pathway |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
HIV Infections | 0.123181358 | 5 | 0 | BeFree_CTD_human_GAD |
Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Adrenal Gland Neoplasms | 0.12 | 1 | 0 | CTD_human |
Necrosis | 0.12 | 1 | 0 | CTD_human |
Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
Epilepsy, Temporal Lobe | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Neoplasm Metastasis | 0.006795978 | 16 | 0 | BeFree_LHGDN |
Mammary Neoplasms | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.003800186 | 14 | 0 | BeFree |
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