| Immunogen | SyntheticpeptidecorrespondingtothecytoplasmicdomainofhumanNotch1 | 
| Epitope | CytoplasmicDomain | 
| Clone | EP1238Y | 
| Host | Rabbit | 
| Specificity | ThisantibodyrecognizesthecytoplasmicdomainofNotch1 | 
| Isotype | IgG | 
| SpeciesReactivity |  | 
| AntibodyType | MonoclonalAntibody | 
| EntrezGeneNumber |  | 
| EntrezGeneSummary | ThisgeneencodesamemberoftheNotchfamily.MembersofthisType1transmembraneproteinfamilysharestructuralcharacteristicsincludinganextracellulardomainconsistingofmultipleepidermalgrowthfactor-like(EGF)repeats,andanintracellulardomainconsistingofmultiple,differentdomaintypes.Notchfamilymembersplayaroleinavarietyofdevelopmentalprocessesbycontrollingcellfatedecisions.TheNotchsignalingnetworkisanevolutionarilyconservedintercellularsignalingpathwaywhichregulatesinteractionsbetweenphysicallyadjacentcells.InDrosophilia,notchinteractionwithitscell-boundligands(delta,serrate)establishesanintercellularsignalingpathwaythatplaysakeyroleindevelopment.Homologuesofthenotch-ligandshavealsobeenidentifiedinhuman,butpreciseinteractionsbetweentheseligandsandthehumannotchhomologuesremaintobedetermined.Thisproteiniscleavedinthetrans-Golginetwork,andpresentedonthecellsurfaceasaheterodimer.Thisproteinfunctionsasareceptorformembraneboundligands,andmayplaymultiplerolesduringdevelopment.[providedbyRefSeq] | 
| GeneSymbol |  | 
| UniProtNumber |  | 
| UniProtSummary | FUNCTION:Functionsasareceptorformembrane-boundligandsJagged1,Jagged2andDelta1toregulatecell-fatedetermination.Uponligandactivationthroughthereleasednotchintracellulardomain(NICD)itformsatranscriptionalactivatorcomplexwithRBP-Jkappaandactivatesgenesoftheenhancerofsplitlocus.Affectstheimplementationofdifferentiation,proliferationandapoptoticprograms.Maybeimportantfornormallymphocytefunction.Inalteredform,maycontributetotransformationorprogressioninsomeT-cellneoplasms.InvolvedinthematurationofbothCD4+andCD8+cellsinthethymus.MaybeimportantforfolliculardifferentiationandpossIBLycellfateselectionwithinthefollicle.Duringcerebellardevelopment,mayfunctionasareceptorforneuronalDNERandmaybeinvolvedinthedifferentiationofBergmanngliaBysimilarity. SUBUNITSTRUCTURE:HeterodimerofaC-terminalfragmentN(TM)andanN-terminalfragmentN(EC)whichareprobablylinkedbydisulfidebonds.InteractswithDNER,DTX1,DTX2andRBPSUH.AlsointeractswithMAML1,MAML2andMAML3whichactastranscriptionalcoactivatorsforNOTCH1.Ref.6Ref.7Ref.8
 SUBCELLULARLOCATION:Cellmembrane;Single-passtypeImembraneproteinBysimilarity.
 Notch1intracellulardomain:NucleusBysimilarity.Note=FollowingproteolyticalprocessingNICDistranslocatedtothenucleusBysimilarity.
 TISSUESPECIFICTY:Infetaltissuesmostabundantinspleen,brainstemandlung.Alsopresentinmostadulttissueswhereitisfoundmainlyinlymphoidtissues.
 PTM:Synthesizedintheendoplasmicreticulumasaninactiveformwhichisproteolyticallycleavedbyafurin-likeconvertaseinthetrans-Golginetworkbeforeitreachestheplasmamembranetoyieldanactive,ligand-accessibleform.CleavageresultsinaC-terminalfragmentN(TM)andaN-terminalfragmentN(EC).Followingligandbinding,itiscleavedbyTNF-alphaconvertingenzyme(TACE)toyieldamembrane-associatedintermediatefragmentcallednotchextracellulartruncation(NEXT).Thisfragmentisthencleavedbypresenilindependentgamma-secretasetoreleaseanotch-derivedpeptidecontainingtheintracellulardomain(NICD)fromthemembraneBysimilarity.
 PhosphorylatedBysimilarity.
 INVOLVEMENTINDISEASE:NOTCH1truncationisassociatedwithT-cellacutelymphoblasticleukemia.Ref.13
 DefectsinNOTCH1areacauseofaorticvalvedisease[MIM:109730].Thedisorderconsistsofanearlydevelopmentaldefectintheaorticvalveandalaterde-repressionofcalciumdepositionthatcausesprogressiveaorticvalvedisease.CalcificationoftheaorticvalveisthethirdleADIngcauseofheartdiseaseinadults.Theincidenceincreaseswithage,anditisoftenassociatedwithabicUSPidaorticvalvepresentin1-2%ofthepopulation.
 SEQUENCESIMILARITIES:BelongstotheNOTCHfamily.
 Contains5ANKrepeats.
 Contains36EGF-likedomains.
 Contains3LNR(Lin/Notch)repeats.
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| MolecularWeight | ~125kDa |