UniProtSummary | FUNCTION:SwissProt:P01112#RasproteinsbindGDP/GTPandpossessintrinsicGTPaseactivity. SIZE:189aminoacids;21298Da SUBUNIT:InitsGTP-boundforminteractswithPLCE1.InteractswithTBC1D10C.InteractswithRGL3(Bysimilarity). SUBCELLULARLOCATION:Cellmembrane;Lipid-anchor;Cytoplasmicside.Golgiapparatusmembrane;Lipid-anchor.Note=ShuttlesbetweentheplasmamembraneandtheGolgiapparatus. PTM:PalmitoylatedbytheZDHHC9-GOLGA7complex.Acontinuouscycleofde-andre-palmitoylationregulatesrapidexchangebetweenplasmamembraneandGolgi. DISEASE:SwissProt:P01112#DefectsinHRASarethecauseofCostellosyndrome[MIM:218040];alsoknownasfaciocutaneoskeletalsyndrome.Costellosyndromeisarareconditioncharacterizedbyprenatallyincreasedgrowth,postnatalgrowthdeficiency,mentalretardation,distinctivefacialappearance,cardiovascularabnormalities(typicallypulmonicstenosis,hypertrophiccardiomyopathyand/oratrialtachycardia),tumorpredisposition,skinandmusculoskeletalabnormalities.&Mutationswhichchangepositions12,13or61activatethepotentialofc-rastotransformculturedcellsandareimplicatedinavarietyofhumantumors.&DefectsinHRASareacauseofbladdercancer[MIM:109800].&DefectsinHRASarealsothecauseoforalsquamouscellcarcinoma(OSCC). SIMILARITY:SwissProt:P01112##BelongstothesmallGTPasesuperfamily.Rasfamily. |