Immunogen | KLH-conjugatedsyntheticlinearpeptidecorrespondingtothehypervariableregionofRas,H,palmitoylated. |
Epitope | hypervariableregion |
Concentration | PleaserefertotheCertificateofAnalysisforthelot-specificconcentration. |
Host | Rabbit |
Specificity | ThisantibodydetectsthehypervariableregionRas,HPalmitoylated. |
SpeciesReactivity | |
SpeciesReactivityNote | Human.ExpectedtoreactwithRat,MouseandChickenbasedonsequencehomology. |
AntibodyType | PolyclonalAntibody |
EntrezGeneNumber | |
EntrezGeneSummary | ThisgenebelongstotheRasoncogenefamily,whosemembersarerelatedtothetransforminggenesofmammaliansarcomaretroviruses.Theproductsencodedbythesegenesfunctioninsignaltransductionpathways.TheseproteinscanbindGTPandGDP,andtheyhaveintrinsicGTPaseactivity.Thisproteinundergoesacontinuouscycleofde-andre-palmitoylation,whichregulatesitsrapidexchangebetweentheplasmamembraneandtheGolgiapparatus.MutationsinthisgenecauseCostellosyndrome,adisease characterizedbyincreasedgrowthattheprenatalstage,growthdeficiencyatthepostnatalstage,predispositiontotumorformation,mentalretardation,skinandmusculoskeletalabnormalities,distinctivefacialappearanceandcardiovascularabnormalities.Defectsinthisgeneareimplicatedinavarietyofcancers,includingbladdercancer,follicularthyroidcancer,andoralsquamouscellcarcinoma.Multipletranscriptvariants,whichencodedifferentisoforms,havebeenidentifiedforthisgene.[providedbyRefSeq].
|
GeneSymbol | - ALPS4
- HRAS1
- N-ras
- NRAS1
- OTTHUMP00000013879
|
PurificationMethod | AffinityPurfied |
UniProtNumber | |
UniProtSummary | FUNCTION:RasproteinsbindGDP/GTPandpossessintrinsicGTPaseactivity.
ENZYMEREGULATION:AlternatebetweenaninactiveformboundtoGDPandanactiveformboundtoGTP.Activatedbyaguaninenucleotide-exchangefactor(GEF)andinactivatedbyaGTPase-activatingprotein(GAP).
SUBCELLULARLOCATION:Cellmembrane;Lipid-anchor;Cytoplasmicside.Golgiapparatusmembrane;Lipid-anchor.Note=ShuttlesbetweentheplasmamembraneandtheGolgiapparatus.
PTM:PalmitoylatedbytheZDHHC9-GOLGA7complex.Acontinuouscycleofde-andre-palmitoylationregulatesrapidexchangebetweenplasmamembraneandGolgi.
INVOLVEMENTINDISEASE:DefectsinNRASareacauseofjuvenilemyelomonocyticleukemia(JMML)[MIM:607785].JMMLisapediatricmyelodysplasticsyndromethatconstitutesapproximately30%ofchildhoodcasesofmyelodysplasticsyndrome(MDS)and2%ofleukemia.
MutationswhichchangeAA12,13or61activatethepotentialofRastotransformculturedcellsandareimplicatedinavarietyofhumantumors.
SEQUENCESIMILARITIES:BelongstothesmallGTPasesuperfamily.Rasfamily.
|
MolecularWeight | ~48kDa(Speculatedtohavespecificityfordimerizedform) |