GeneID: 32



Names

Common Name: MAP3K5 Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NG_011965.1 (MAP3K5)
HUGO Symbol: MAP3K5 Full Name: mitogen-activated protein kinase kinase kinase 5
Exons: 30 Introns: 29

Description:
MAP3K5/ASK1 is required for the innate immune response, which is essential for host defense against a wide range of pathogens. Mediates signal transduction of various stressors, such as oxidative stress, as well as by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF) and lipopolysaccharide (LPS). Once activated, it acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K4/SEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs and c-jun N-terminal kinases (JNKs). Both p38 MAPK and JNKs control the transcription factors activator protein-1 (AP-1). Polymorphisms in this gene were found to be strongly associated with the HbF response to hydroxyurea (HU) in sickle cell patients.

Synonyms: MEKK5 , ASK1 , MAPKKK5

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Rampoldi L, Zimbello R, Bortoluzzi S, Tiso N, Valle G, Lanfranchi G, Danieli GA, Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5., Cytogenet. Cell Genet. , 78(3), 301-3, 1997 PubMed
  2. Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007 PubMed
  3. Stark MS, Woods SL, Gartside MG, Bonazzi VF, Dutton-Regester K, Aoude LG, Chow D, Sereduk C, Niemi NM, Tang N, Ellis JJ, Reid J, Zismann V, Tyagi S, Muzny D, Newsham I, Wu Y, Palmer JM, Pollak T, Youngkin D, Brooks BR, Lanagan C, Schmidt CW, Kobe B, MacKeigan JP, Yin H, Brown KM, Gibbs R, Trent J, Hayward NK, Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing., Nat. Genet. , 44(2), 165-9, 2012 PubMed
  4. Tafrali C, Paizi A, Borg J, Radmilovic M, Bartsakoulia M, Giannopoulou E, Giannakopoulou O, Stojiljkovic-Petrovic M, Zukic B, Poulas K, Stavrou EF, Lambropoulou P, Kourakli A, Felice AE, Papachatzopoulou A, Philipsen S, Pavlovic S, Georgitsi M, Patrinos GP, Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy., Pharmacogenomics , 14(5), 469-83, 2013 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 13:58:17 (Show full history)


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