Immunogen | N-terminalGSTfusionproteincorrespondingtoresidues381-853ofratNotch1 |
Host | Rabbit |
Specificity | Notch1 |
Isotype | IgG |
SpeciesReactivity | |
SpeciesReactivityNote | Usedinmouseinthefollowingpublication:Gulino,R.,etal,EuropeanJournalofNeuroscience,Vol.31,pp.1423–1434,2010. |
AntibodyType | PolyclonalAntibody |
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. |
GeneSymbol | |
PurificationMethod | ProteinAchromatography |
UniProtNumber | |
UniProtSummary | FUNCTION:SwissProt:P46531#Functionsasareceptorformembrane-boundligandsJagged1,Jagged2andDelta1toregulatecell-fatedetermination.Uponligandactivationthroughthereleasednotchintracellulardomain(NICD)itformsatranscriptionalactivatorcomplexwithRBP-Jkappaandactivatesgenesoftheenhancerofsplitlocus.Affectstheimplementationofdifferentiation,proliferationandapoptoticprograms.Maybeimportantfornormallymphocytefunction.Inalteredform,maycontributetotransformationorprogressioninsomeT-cellneoplasms.InvolvedinthematurationofbothCD4+andCD8+cellsinthethymus.MaybeimportantforfolliculardifferentiationandpossIBLycellfateselectionwithinthefollicle.Duringcerebellardevelopment,mayfunctionasareceptorforneuronalDNERandmaybeinvolvedinthedifferentiationofBergmannglia(Bysimilarity). SIZE:2556aminoacids;272500Da SUBUNIT:HeterodimerofaC-terminalfragmentN(TM)andanN-terminalfragmentN(EC)whichareprobablylinkedbydisulfidebonds.InteractswithDNER,DTX1,DTX2andRBPSUH.AlsointeractswithMAML1,MAML2andMAML3whichactastranscriptionalcoactivatorsforNOTCH1. SUBCELLULARLOCATION:Cellmembrane;Single-passtypeImembraneprotein(Bysimilarity).&Notch1intracellulardomain:Nucleus(Bysimilarity).Note=FollowingproteolyticalprocessingNICDistranslocatedtothenucleus(Bysimilarity). TISSUESPECIFICITY: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)fromthemembrane(Bysimilarity).&Phosphorylated(Bysimilarity). DISEASE:SwissProt:P46531#NOTCH1truncationisassociatedwithT-cellacutelymphoblasticleukemia.&DefectsinNOTCH1areacauseofaorticvalvedisease[MIM:109730].Thedisorderconsistsofanearlydevelopmentaldefectintheaorticvalveandalaterde-repressionofcalciumdepositionthatcausesprogressiveaorticvalvedisease.CalcificationoftheaorticvalveisthethirdleADIngcauseofheartdiseaseinadults.Theincidenceincreaseswithage,anditisoftenassociatedwithabicUSPidaorticvalvepresentin1-2%ofthepopulation. SIMILARITY:SwissProt:P46531##BelongstotheNOTCHfamily.&Contains5ANKrepeats.&Contains36EGF-likedomains.&Contains3LNR(Lin/Notch)repeats. |
MolecularWeight | 260kDa |