Bernards André
Massachusetts General Hospital Cancer Center, Building 149, 13th Street, Charlestown, MA 02129-2000, USA.
Biochim Biophys Acta. 2003 Mar 17;1603(2):47-82. doi: 10.1016/s0304-419x(02)00082-3.
Typical members of the Ras superfamily of small monomeric GTP-binding proteins function as regulators of diverse processes by cycling between biologically active GTP- and inactive GDP-bound conformations. Proteins that control this cycling include guanine nucleotide exchange factors or GEFs, which activate Ras superfamily members by catalyzing GTP for GDP exchange, and GTPase activating proteins or GAPs, which accelerate the low intrinsic GTP hydrolysis rate of typical Ras superfamily members, thus causing their inactivation. Two among the latter class of proteins have been implicated in common genetic disorders associated with an increased cancer risk, neurofibromatosis-1, and tuberous sclerosis. To facilitate genetic analysis, I surveyed Drosophila and human sequence databases for genes predicting proteins related to GAPs for Ras superfamily members. Remarkably, close to 0.5% of genes in both species (173 human and 64 Drosophila genes) predict proteins related to GAPs for Arf, Rab, Ran, Rap, Ras, Rho, and Sar family GTPases. Information on these genes has been entered into a pair of relational databases, which can be used to identify evolutionary conserved proteins that are likely to serve basic biological functions, and which can be updated when definitive information on the coding potential of both genomes becomes available.
小单体GTP结合蛋白Ras超家族的典型成员通过在生物活性GTP结合构象和无活性GDP结合构象之间循环,发挥多种过程调节因子的作用。控制这种循环的蛋白质包括鸟嘌呤核苷酸交换因子(GEF),其通过催化GTP与GDP交换来激活Ras超家族成员;以及GTP酶激活蛋白(GAP),其加速典型Ras超家族成员低水平的内在GTP水解速率,从而使其失活。后一类蛋白质中有两种与癌症风险增加相关的常见遗传疾病——神经纤维瘤病1型和结节性硬化症有关。为便于进行遗传分析,我在果蝇和人类序列数据库中搜索了预测与Ras超家族成员GAP相关蛋白质的基因。值得注意的是,两个物种中近0.5%的基因(173个人类基因和64个果蝇基因)预测的蛋白质与Arf、Rab、Ran、Rap、Ras、Rho和Sar家族GTP酶的GAP相关。这些基因的信息已录入一对关系数据库,可用于识别可能具有基本生物学功能的进化保守蛋白,并且当两个基因组编码潜力的确切信息可用时可以更新。