MAP2K1


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MAP2K1

A gene on chromosome 15q22.1-q22.33 that encodes a dual-specificity protein kinase which is an essential component of the MAP-kinase signal transduction pathway. MAP2K1 binds to extracellular ligands (e.g., as growth factors, cytokines and hormones) to their cell surface
receptors, activating RAS and RAF1, which in turn activates dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2; these act in the MAPK/ERK cascade and catalyse the phosphorylation of threonine and tyrosine residues, leading to the activation of the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2,  and amplification of the transduction signal within the MAPK/ERK cascade.
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MAP2K1 encodes the dual-specificity kinase of the MAPK pathway.
High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis.
The recent identification of either BRAF or MAP2K1 mutations in most cases of LCH provides additional evidence of the neoplastic nature of the disease and has important implications for potential risk stratification and treatment.
43) The identification of MAP2K1 mutations raises the possibility of specific inhibition of the MAPK pathway as a novel therapeutic strategy in HCL-v.
In addition, some melanomas negative for NRAS and BRAF mutations show mutations with putative loss of function in NF1, (444,499) which is a negative regulator of RAS and may confer MAPK activation, (502) or sometimes show mutations in HRAS, CRAF, MAP2K1, or KIT.
OncoMap Genes and Mutations (a) Gene Mutations ABL1 16 AKT1 1 AKT2 2 APC 13 BRAF 50 CDK4 1 CDKN2A 11 CSF1R 7 CTNNB1 33 EGFR 51 ERBB2 8 FGFR1 2 FGFR2 6 FGFR3 8 FLT3 9 GNA11 2 GNAQ 3 GNAS 3 HRAS 16 IDH1 3 IDH2 2 JAK2 1 JAK3 3 KIT 27 KRAS 24 MAP2K1 7 MET 6 MLH1 1 MYC 6 NPM1 3 NRAS 22 PDGFRA 20 PIK3CA 23 PIK3R1 14 PTEN 15 RB1 11 RET 14 SRC 1 STK11 12 TP53 7 VHL 7 (a) OncoMap 4 consists of 439 assays designed to interrogate 471 unique mutations in 41 cancer genes.