GeneID: 97
Names
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 |
Description:
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
Comments:
N/A
Number of entries/variants: 2
IthaScore
Sequence Viewer
Publications / Origin
- 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
- Shaul YD, Seger R, The MEK/ERK cascade: from signaling specificity to diverse functions., Biochim. Biophys. Acta , 1773(8), 1213-26, 2007 PubMed
- 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
- Bromberg-White JL, Andersen NJ, Duesbery NS, MEK genomics in development and disease., Brief Funct Genomics , 11(4), 300-10, 2012 PubMed
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2016-04-27 09:47:14 | The IthaGenes Curation Team | Created |