RHOBTB2 GTPase 循环
中文名称
通路描述
RHOBTB2 是 RHO GTP 酶家族的一个非典型成员，预测其不会在 GTP 结合形式和 GDP 结合形式之间循环 (Berthold et al. 2008)。与 RHO GTP 酶的其他成员不同，RHOBTB 家族蛋白除了 GTP 酶结构域外，还含有其他保守结构域。N 端 GTP 酶结构域后跟一个富含脯氨酸的区域，然后是一个 BTB (广复合体，轨道，砖块) 结构域的串联体，以及一个保守的 C 端 BACK (BTB 和 C 端 Kelch) 结构域 (Berthold et al. 2008, Ji and Rivero 2016)。RHOBTB 蛋白可以形成同源和异源二聚体，但二聚化在 RHOBTB 功能中的作用尚不清楚 (Berthold et al. 2008, Ji and Rivero 2016)。RHOBTB2 通常以较低水平表达 (Berthold et al. 2008)，低于 RHOBTB1 (Ji and Rivero 2016)。在神经和心脏组织中可检测到高水平的 RHOBTB2 (Berthold et al. 2016)。RHOBTB2 参与 COP9 信号体介导的和 CUL3 依赖性的蛋白质泛素化 (Berthold et al. 2008; Ji and Rivero 2016)。RHOBTB2 抑制细胞增殖并促进细胞凋亡 (Ji and Rivero 2016)。RHOBTB2 参与囊泡运输 (Ji and Rivero 2016)。RHOBTB2 最初被发现是乳腺癌中同源缺失的基因，命名为 DBC2 (deleted in breast cancer 2) (Berthold et al. 2008)。在许多肿瘤类型中 RHOBTB2 水平降低，并提出其作为肿瘤抑制子的作用。在癌症中已报道 RHOBTB2 的基因组缺失和少量致病突变 (Berthold et al. 2008; Ji and Rivero 2016)。与 CUL3 相互作用受损的 RHOBTB2 突变已被发现导致癫痫性脑病 (Belal et al. 2018)。
英文描述
RHOBTB2 GTPase cycle RHOBTB2 is an atypical member of the RHO GTPase family that is predicted not to cycle between a GTP-bound form and a GDP-bound form (Berthold et al. 2008). RHOBTB family proteins, in contrast to other RHO GTPases, possess other conserved domains in addition to the GTPase domain. The GTPase domain at the N terminus is followed by a proline rich region, a tandem of two BTB (broad complex, tramtrack, bric à brac) domains, and a conserved C terminal BACK (BTB and C terminal Kelch) domain (Berthold et al. 2008, Ji and Rivero 2016). RHOBTB proteins can form homo- and heterodimers, but the role of dimerization in RHOBTB function is not known (Berthold et al. 2008, Ji and Rivero 2016). RHOBTB2 is usually expressed weakly (Berthold et al. 2008), at a lower level than RHOBTB1 (Ji and Rivero 2016). Relatively high levels of RHOBTB2 can be detected in neural and cardiac tissues (Berthold et al. 2016). RHOBTB2 is involved in COP9 signalosome-regulated and CUL3-dependent protein ubiquitination (Berthold et al. 2008; Ji and Rivero 2016). RHOBTB2 suppresses cellular proliferation and promotes apoptosis (Ji and Rivero 2016). RHOBTB2 takes part in vesicle transport (Ji and Rivero 2016). RHOBTB2 was initially discovered as the gene homozygously deleted in breast cancer and was named DBC2 (deleted in breast cancer 2) (Berthold et al. 2008). RHOBTB2 level is decreased in many tumor types and it is proposed to act as a tumor suppressor. Genomic deletions and a small number of pathogenic mutations in RHOBTB2 have been reported in cancer (Berthold et al. 2008; Ji and Rivero 2016). Mutations of RHOBTB2 that result in impaired interaction with CUL3 have been found to cause epileptic encephalopathy (Belal et al. 2018).
所含基因
23 个基因