OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardAll1OMIMdbSNP0OMIMUniSTS0*601507LinksADAPTORRELATEDPROTEINCOMPLEX3SIGMA1SUBUNITAP3S1AlternativetitlessymbolsCLATHRINASSOCIATED/ASSEMBLY/ADAPTORPROTEINSMALL322KDCLAPS3CLATHRINADAPTORCOMPLEXAP3SIGMA3ASUBUNITGenemaplocus12p132p131TEXTCLONINGFromahumanfetalbraincDNAlibraryWatanabeetal(1996)isolatedageneencodingapeptidehomologoustoclathrinadaptorsmallchainsinratmouseandyeastTheAP3S1genewhichtheydesignatedCLAPS3(forclathrinassociated/assembly/adaptorproteinsmall322kD)containsanopenreadingframeof579bpencoding193aminoacidsNorthernblotanalysisrevealedexpressionofa135kbtranscriptinallhumantissuesexaminedGENEFUNCTIONDell'Angelicaetal(1997)foundthatCLAPS3whichtheydesignatedsigma3AispartofalargecomplexAP3thatappearstobeaubiquitouslyexpressedadaptorlikecomplexinvolvedinproteinsortingUsingayeast2hybridassayLefrancoisetal(2004)determinedthattheeardomainoftheAP3deltasubunit(AP3D1607246)interactswithbothisoformsofthesigma3subunitsigma3Aandsigma3B(AP3S2602416)AnextendedCterminalsegmentofsigma3wasnecessaryfortheinteractionwiththedeltasubunitThedeltasigma3interactioninterferedwiththebindingofAP3toARF(see103180)butnotwithitsbindingtodileucinebasedsortingsignalsAsaconsequencethedeltasubunitearinhibitedtherecruitmentofAP3tomembranesbothinvitroandinvivoandimpairedthesortingoflysosomalmembraneproteinsMAPPINGWatanabeetal(1996)mappedtheAP3S1geneto12p132p131byfluorescenceinsituhybridizationREFERENCES1Dell'AngelicaECOhnoHOoiCERabinovichERocheKWBonifacinoJSAP3anadaptorlikeproteincomplexwithubiquitousexpressionEMBOJ169179281997PubMedID91189532LefrancoisSJanvierKBoehmMOoiCEBonifacinoJSAnearcoreinteractionregulatestherecruitmentoftheAP3complextomembranesDevCell76196252004PubMedID154698493WatanabeTKShimizuFNagataMTakaichiAFujiwaraTNakamuraYTakahashiEHiraiYCloningexpressionpatternandmappingto12p132p131ofCLAPS3ageneencodinganovelclathrinadaptorsmallchainCytogenetCellGenet732142171996PubMedID8697810CONTRIBUTORSPatriciaAHartzupdated11/22/2004RebekahSRasoolyupdated3/5/1998CREATIONDATEVictorAMcKusick11/15/1996EDITHISTORYwwang8/31/2006mgross11/22/2004psherman1/5/1999psherman1/4/1999alopez4/8/1998alopez4/8/1998alopez3/5/1998alopez1/8/1998mark11/17/1996mark11/15/1996Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH