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]

  • MAPK cascade
  • Activation of MAPKK activity
  • Response to hypoxia
  • Cellular glucose homeostasis
  • Positive regulation of protein phosphorylation
  • Noonan syndrome 5
  • Leopard syndrome 2
  • Cardiomyopathy, dilated, 1nn
  • Noonan syndrome with multiple lentigines
  • Noonan syndrome 1

Emw. Structure of the RAF1 protein. Based on PyMOL rendering of PDB 1c1y.