Immunogen | Asyntheticpeptidefromhumansynphilin-1(aminoacids829-847). |
Epitope | a.a.829-847 |
Host | Rabbit |
Specificity | Synphilin-1.Immunohistochemicalanalysisofhumanbrainindicatesahighlevelofspecificity.Peptidesequenceusedshows88%sequencehomologywithmousesynphilin-1butmousehasnotbeentestedforreactivity. |
SpeciesReactivity | |
AntibodyType | PolyclonalAntibody |
EntrezGeneNumber | |
EntrezGeneSummary | Thisgeneencodesaproteincontainingseveralprotein-proteininteractiondomains,includingankyrin-likerepeats,acoiled-coildomain,andanATP/GTP-bindingmotif.Theencodedproteininteractswithalpha-synucleininneuronaltissueandmayplayaroleintheformationofcytoplasmicinclusionsandneurodegeneration.AmutationinthisgenehasbeenassociatedwithParkinson"sdisease.Alternativelysplicedtranscriptvariantsencodingdifferentisoformsofthisgenehavebeendescribed,buttheirfull-lengthnaturehasyettobedetermined. |
GeneSymbol | - SNCAIP
- MGC39814
- synphilin-1
- SYPH1
- Synphilin-1
|
UniProtNumber | |
UniProtSummary | SIZE:919aminoacids;100381Da SUBUNIT:AssociateswithSNCA,RNF19AANDPARK2. TISSUESPECIFICITY:Widelyexpressed,withhighestlevelsinbrain,heartandplacenta. PTM:Ubiquitinated;mediatedbySIAH1orRNF19AandleADIngtoitssubsequentproteasomaldegradation. DISEASE:SwissProt:Q9Y6H5#DefectsinSNCAIPareacauseofParkinsondisease(PD)[MIM:168600].PDisacomplex,multifactorialdisorderthattypicallymanifestsaftertheageof50years,althoughearly-onsetcases(before50years)areknown.PDgenerallyarisesasasporadicconditionbutisoccasionallyinheritedasasimplemendeliantrait.AlthoughsporadicandfamilialPDareverysimilar,inheritedformsofthediseaseusuallybeginatearlieragesandareassociatedwithatypicalclinicalfeatures.PDischaracterizedbybradykinesia,restingtremor,muscularrigidityandposturalinstABIlity,aswellasbyaclinicallysignificantresponsetotreatmentwithlevodopa.ThepathologyinvolvesthelossofdopaminergicneuronsinthesubstantianigraandthepresenceofLewybodies(intraneuronalaccumulationsofaggregatedproteins),insurvivingneuronsinvariousareasofthebrain. SIMILARITY:SwissProt:Q9Y6H5##Contains6ANKrepeats. MISCELLANEOUS:ConstructsencodingportionsofSNCAandSNCAIPco-transfectedinmammaliancellspromotecytosolicinclusionsresemblingtheLewybodiesofParkinsondisease.CoexpressionofSNCA,SNCAIP,andPARK2resultintheformationofLewybody-likeubiquitin-positivecytosolicinclusions.FamilialmutationsinPARK2disrupttheubiquitinationofSNCAIPandtheformationoftheubiquitin-positiveinclusions.TheseresultsprovideamolecularbasisfortheubiquitinationofLewybody-associatedproteinsandlinkPARK2andSNCAinacommonpathogenicmechanismthroughtheirinteractionwithSNCAIP. |