| UniProtSummary | FUNCTION:SwissProt:P37840#Maybeinvolvedintheregulationofdopaminereleaseandtransport.Solubleprotein,normallylocalizedprimarilyatthepresynapticregionofaxons,whichcanformfilamentousaggregatesthatarethemajornonamyloidcomponentofintracellularinclusionsinseveralneurodegenerativediseases(synucleinopathies).Inducesfibrillizationofmicrotubule-associatedproteintau.Reducesneuronalresponsivenesstovariousapoptoticstimuli,leADIngtoadecreasedcaspase3activation.
SIZE:140aminoacids;14460Da
SUBUNIT:Solublemonomerwhichcanformfilamentousaggregates.InteractswithUCHL1(Bysimilarity).InteractswithphospholipaseDandhistones.
SUBCELLULARLOCATION:Cytoplasm.Membrane.Nucleus.Note=Membrane-boundindopaminergicneurons.Alsofoundinthenucleus.
TISSUESPECIFICITY:Expressedprincipallyinbrainbutisalsoexpressedinlowconcentrationsinalltissuesexaminedexceptinliver.Concentratedinpresynapticnerveterminals.
DOMAIN:SwissProt:P37840TheNACdomainisinvolvedinthefibrilformation.Themiddleregionformsthecoreofthefilaments.TheC-terminusmayregulateaggregationanddeterminethediameterofthefilaments.
PTM:Phosphorylated,predominantlyonserineresidues.PhosphorylationbyCK1appearstooccuronresiduesdistinctfromtheresiduephosphorylatedbyotherkinases.PhosphorylationofSer-129isselectiveandextensiveinsynucleinopathylesions.Invitro,phosphorylationatSer-129promotedinsolublefibrilformation.PhosphorylatedonTyr-125byaPTK2B-dependentpathwayuponosmoticstress.&Hallmarklesionsofneurodegenerativesynucleinopathiescontainalpha-synucleinthatismodifiedbynitrationoftyrosineresiduesandpossIBLybydityrosinecross-linkingtogeneratedstableoligomers.&Ubiquitinated.Thepredominantconjugateisthediubiquitinatedform(Bysimilarity).
DISEASE:SwissProt:P37840#DefectsinSNCAareacauseofautosomaldominantParkinsondisease1(PARK1)[MIM:168601,168600].Parkinsondisease(PD)isacomplex,multifactorialdisorderthattypicallymanifestsaftertheageof50years,althoughearly-onsetcases(before50years)areknown.PDgenerallyarisesasasporadicconditionbutisoccasionallyinheritedasasimplemendeliantrait.AlthoughsporadicandfamilialPDareverysimilar,inheritedformsofthediseaseusuallybeginatearlieragesandareassociatedwithatypicalclinicalfeatures.PDischaracterizedbybradykinesia,restingtremor,muscularrigidityandposturalinstABIlity,aswellasbyaclinicallysignificantresponsetotreatmentwithlevodopa.ThepathologyinvolvesthelossofdopaminergicneuronsinthesubstantianigraandthepresenceofLewybodies(intraneuronalaccumulationsofaggregatedproteins),insurvivingneuronsinvariousareasofthebrain.&DefectsinSNCAarethecauseofParkinsondisease4(PARK4)[MIM:605543,168600].&DefectsinSNCAarethecauseofLewybodydementia(DLB)[MIM:127750].DLBisaneurodegenerativedisorderclinicallycharacterizedbydementiaandparkinsonism,oftenwithfluctuatingcognitivefunction,visualhallucinations,falls,syncopalepisodes,andsensitivitytoneurolepticmedication.PresenceofLewybodiesaretheonlyessentialpathologicfeatures.&DepositionoffibrillaramyloidproteinsintraneuronallyasneurofibrillarytanglesischaracteristicofAlzheimerdisease(AD).SNCAisaminorproteinfoundwithinthesedeposits,butamajornonamyloidcomponent.&Brainironaccumulationtype1(NBIA1,alsocalledHallervorden-Spatzsyndrome),arareneuroaxonaldystrophy,ishistologicallycharacterizedbyaxonalspheroids,irondeposition,Lewybody(LB)-likeintraneuronalinclusions,glialinclusionsandneurofibrillarytangles.SNCAisfoundinLB-likeinclusions,glialinclusionsandspheroids.
SIMILARITY:Belongstothesynucleinfamily. |
購物車為空，快去購物吧！
4000-520-616
咨詢顧問
特別 提示
