Catalytic activity:ATP + a protein = ADP + a phosphoprotein. ,cofactor:Binds 2 zinc ions per subunit. ,Disease:Defects in RAF1 are the cause of LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]. LEOPARD syndrome is an autosomal dominant disorder allelic with Noonan syndrome. The acronym LEOPARD stands for lentigines , electrocardiographic conduction abnormalities , ocular hypertelorism , pulmonic stenosis , abnormalities of genitalia , retardation of growth , and deafness. ,Disease:Defects in RAF1 are the cause of Noonan syndrome type 5 (NS5) [MIM:611553]. Noonan syndrome (NS) is a disorder characterized by dysmorphic facial features , short stature , hypertelorism , cardiac anomalies , deafness , motor delay , and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome , with an estimated incidence of 1 in 1000-2500 live births. ,Function:Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. Part of the Ras-dependent signaling pathway from receptors to the nucleus. Protects cells from apoptosis mediated by STK3. ,PTM:Phosphorylated upon DNA damage , probably by ATM or ATR. Phosphorylation at Thr-269 increases its kinase activity. ,similarity:Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. ,similarity:Contains 1 phorbol-ester/DAG-type zinc finger. ,similarity:Contains 1 protein kinase domain. ,similarity:Contains 1 RBD (Ras-binding) domain. ,subunit:Interacts with Ras proteins; the interaction is antagonized by RIN1. Weakly interacts with RIT1 (By similarity) . Interacts with STK3; the interaction inhibits its pro-apoptotic activity. Interacts with YWHAZ (unphosphorylated at 'Thr-232') . ,tissue specificity:In skeletal muscle , isoform 1 is more abundant than isoform 2. ,
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