OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardAll1OMIMdbSNP0OMIMUniSTS0*605324LinksAMYLOIDBETAPRECURSORPROTEINBINDINGPROTEIN2APPBP2AlternativetitlessymbolsPROTEININTERACTINGWITHAPPTAIL1PAT1Genemaplocus17q22q23TEXTCLONINGEpithelialcellsurfacesaredividedintoapicalandbasolateraldomainsThebasolateralsortingofcellsurfaceproteinsdependsonthepresenceofpeptidebasedbasolateralsortingsignals(BaSS)inthecytoplasmicdomainsofproteinsAmyloidprecursorprotein(APP104760)abasolateralproteinimplicatedinthepathogenesisofAlzheimerdisease(AD104300)containsatyrosinebasedBaSSMutationofthetyrosineresultsinnonpolarizedtransportofAPPUsingAPPBaSSasbaitinayeast2hybridscreenofaHeLacellcDNAlibraryfollowedbynegativeselectionwithatyralamutantAPPBaSSasbaitand5primeRACEZhengetal(1998)isolatedacDNAencodingamyloidbetaprecursorproteinbindingprotein2(APPBP2)whichtheycalledPAT1(proteininteractingwithAPPtail1)Thededuced585aminoacidhydrophilicAPPBP2proteinwhichisidenticaltotheuncharacterizedKIAA0228proteinidentifiedbyNagaseetal(1996)lackssignalortransmembranesequencesbutcontainsNandCterminalglobularstructuresacoiledcoildomainseveralproteinkinaseCphosphorylationsitesand4imperfectCterminaltandemrepeatsBindinganalysisdeterminedthatAPPBP2bindsspecificallytothetyrosinecontainingAPPBaSSandtothecompletecytoplasmicdomainofAPPitdoesnotbindtomutantAPPBaSSWesternblotanalysisshowedthatAPPBP2ispresentasa70kDproteininbothcytosolicandtogetherwithAPPmembraneassociatedcellfractionsImmunofluorescencemicroscopydemonstratedthatAPPBP2ispresentintheGolgiregionandthatitsdistributionoverlapsthatofAPPSDSPAGEandimmunoblottingshowedthatAPPBP2interactswithmicrotubulesandisfunctionallyassociatedwithAPPtransportand/orprocessingByNorthernblotanalysisNagaseetal(1996)detectedubiquitousexpressionofKIAA0228asanapproximately65kbtranscriptMAPPINGNagaseetal(1996)mappedtheAPPBP2genetochromosome17byradiationhybridanalysisLietal(2002)notedthattheAPPBP2genelieswithin100kbofthePPM1Dgene(605100)on17q22q23andsuggestedthatitsamplificationinbreastcancerisprobablythesecondaryconsequenceofitsproximitytoPPM1DasitalonedidnotinduceanyoncogenicphenotypewhenoverexpressedREFERENCES1LiJYangYPengYAustinRJvanEyndhovenWGNguyenKCQGabrieleTMcCurrachMEMarksJRHoeyTLoweSWPowersSOncogenicpropertiesofPPM1Dlocatedwithinabreastcanceramplificationepicenterat17q23NatureGenet311331342002PubMedID120217842NagaseTSekiNIshikawaKOhiraMKawarabayasiYOharaOTanakaAKotaniHMiyajimaNNomuraNPredictionofthecodingsequencesofunidentifiedhumangenesVIThecodingsequencesof80newgenes(KIAA0201KIAA0280)deducedbyanalysisofcDNAclonesfromcelllineKG1andbrainDNARes33213291996PubMedID90395023ZhengPEastmanJVandePolSPimplikarSWPAT1amicrotubuleinteractingproteinrecognizesthebasolateralsortingsignalofamyloidprecursorproteinProcNatAcadSci9514745147501998PubMedID9843960CONTRIBUTORSVictorAMcKusickupdated5/30/2002CREATIONDATEPaulJConverse10/10/2000EDITHISTORYcarol5/28/2003alopez6/5/2002terry5/30/2002carol10/10/2000Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH