Catalytic activity:ATP + a protein = ADP + a phosphoprotein. ,Disease:Defects in MAP2K1 are a cause of cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]; also known as cardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive facial appearance , heart defects and mental retardation. Heart defects include pulmonic stenosis , atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse , friable hair , hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction , hypoplastic supraorbital ridges , downslanting palpebral fissures , a depressed nasal bridge , and posteriorly angulated ears with prominent helices. The inheritance of CFC syndrome is autosomal dominant. ,enzyme regulation:Activated by phosphorylation. ,Function:Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates ERK1 and ERK2 MAP kinases. ,PTM:Acetylation by Yersinia yopJ prevents phosphorylation and activation , thus blocking the MAPK signaling pathway. ,PTM:Phosphorylation on Ser/Thr by MAP kinase kinase kinases (RAF or MEKK1) regulates positively the kinase activity. ,similarity:Belongs to the protein kinase superfamily. ,similarity:Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. ,similarity:Contains 1 protein kinase domain. ,subunit:Interacts with MORG1 (By similarity) . Interacts with Yersinia yopJ. ,
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