mitogen-activated protein kinase kinase 1
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Diagnostic Grade (Green)
Childhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+11 more panels — install the extension to see the full list inline on any page.
cardiofaciocutaneous syndrome
cardiofaciocutaneous syndrome 3
melanoma
melorheostosis
cancer
Noonan syndrome
neoplasm
RASopathy
neurofibromatosis type 1
Noonan syndrome with multiple lentigines
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Dual specificity mitogen-activated protein kinase kinase 1
Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126). Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC), as well as in the fragmentation of the Golgi apparatus during mitosis
Curated MONDO disease pages that list MAP2K1 among their top associated genes.
MAP2K1 · Q02750
Mean pLDDT
83.3/ 100
Confident
393 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
