GeneID: 97


Common Name: MAP2K1 Type: Gene
Chromosome: 15 (NC_000015.10) Locus: NG_008305.1 (MAP2K1)
HUGO Symbol: MAP2K1 Full Name: mitogen-activated protein kinase kinase 1
Exons: 11 Introns: 10

MAP2K1 is a member of the mitogen-activated kinase kinase (MAPKK) family that forms part of a three-tiered core-signalling module (MAP3K→MAPKK→MAPK), a common mechanism of signal transduction to different MAPK pathways. The encoded protein is a dual specificity kinase that mediates phosphorylation of downstream MAP kinases on both serine/threonine and tyrosine residues located in the activation loop of the kinase domain. Activated MAPKs propagate signals to downstream effectors. They are activated in response to a large number of external stimuli, thus controlling a variety of cellular processes including proliferation, differentiation, survival, development and transcription regulation. Polymorphisms in this gene associated with leg ulceration and HbF levels in sickle cell patients.

Synonyms: PRKMK1 , MAPKK1 , MEK1


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Publications / Origin

  1. Nolan VG, Adewoye A, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH, Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway., Br. J. Haematol. , 133(5), 570-8, 2006 PubMed
  2. Shaul YD, Seger R, The MEK/ERK cascade: from signaling specificity to diverse functions., Biochim. Biophys. Acta , 1773(8), 1213-26, 2007 PubMed
  3. Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008 PubMed
  4. Bromberg-White JL, Andersen NJ, Duesbery NS, MEK genomics in development and disease., Brief Funct Genomics , 11(4), 300-10, 2012 PubMed
Created on 2016-04-27 09:47:14, Last reviewed on (Show full history)

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