EntrezGeneSummary | Theproteinencodedbythisgeneisamemberofthedualspecificityproteinkinasefamily,whichactsasamitogen-activatedprotein(MAP)kinasekinase.MAPkinases,alsoknownasextracellularsignal-regulatedkinases(ERKs),actasanintegrationpointformultiplebiochemicalsignals.ThisproteinkinaseliesupstreamofMAPkinasesandstimulatestheenzymaticactivityofMAPkinasesuponwidevarietyofextra-andintracellularsignals.AsanessentialcomponentofMAPkinasesignaltransductionpathway,thiskinaseisinvolvedinmanycellularprocessessuchasproliferation,differentiation,transcriptionregulationanddevelopment. |
UniProtSummary | FUNCTION:SwissProt:Q02750#CatalyzestheconcomitantphosphorylationofathreonineandatyrosineresidueinaThr-Glu-TyrsequencelocatedinMAPkinases.ActivatesERK1andERK2MAPkinases. SIZE:393aminoacids;43439Da SUBUNIT:InteractswithMORG1(Bysimilarity).InteractswithYersiniayopJ. PTM:PhosphorylationonSer/ThrbyMAPkinasekinasekinases(RAForMEKK1)regulatespositivelythekinaseactivity.&AcetylationbyYersiniayopJpreventsphosphorylationandactivation,thusblockingtheMAPKsignalingpathway. DISEASE:SwissProt:Q02750#DefectsinMAP2K1areacauseofcardiofaciocutaneoussyndrome(CFCsyndrome)[MIM:115150];alsoknownascardio-facio-cutaneoussyndrome.CFCsyndromeischaracterizedbyadistinctivefacialappearance,heartdefectsandmentalretardation.Heartdefectsincludepulmonicstenosis,atrialseptaldefectsandhypertrophiccardiomyopathy.Someaffectedindividualspresentwithectodermalabnormalitiessuchassparse,friablehair,hyperkeratoticskinlesionsandageneralizedichthyosis-likecondition.TypicalfacialfeaturesaresimilartoNoonansyndrome.Theyincludehighforeheadwithbitemporalconstriction,hypoplasticsupraorbitalridges,downslantingpalpebralfissures,adepressednasalbridge,andposteriorlyangulatedearswithprominenthelices.TheinheritanceofCFCsyndromeisautosomaldominant. SIMILARITY:SwissProt:Q02750##Belongstotheproteinkinasesuperfamily.STESer/Thrproteinkinasefamily.MAPkinasekinasesubfamily.&Contains1proteinkinasedomain. |