RAF1

This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]

本基因是病毒raf基因（v-raf）的细胞同源基因。编码的蛋白为MAP激酶激酶激酶（MAP3K），其功能位于直接结合的Ras家族膜关联GTP酶下游。一旦被激活，细胞内的RAF1蛋白能够磷酸化以激活双特异性蛋白激酶MEK1和MEK2，进而这些激酶通过磷酸化作用激活丝氨酸/苏氨酸特异性蛋白激酶ERK1和ERK2。激活的ERKs是细胞生理的多效调节因子，并在调控细胞分裂周期、细胞凋亡、细胞分化和细胞迁移等基因表达过程中发挥重要作用。本基因的突变与诺南综合征5型（Noonan syndrome 5）和LEOPARD综合征2型（LEOPARD syndrome 2）相关。[由RefSeq提供，2008年7月]