OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardAll1OMIMdbSNP0OMIMUniSTS0*601797LinksABSENTINMELANOMA1AIM1Genemaplocus6q21TEXTAIM1(absentinmelanoma1)isanovelgenewhoseexpressionisalteredinassociationwithtumorsuppressioninamodelofhumanmelanoma(Trentetal1990)Chromosomebandinganalysisofhumanmalignantmelanomadocumentednonrandomalterationinchromosome6Todeterminetherelevanceofchromosome6abnormalitiesinmelanomaTrentetal(1990)directlyintroducedanormalchromosome6intomelanomacelllinesTheresulting(+6)microcellhybridsweresignificantlyalteredintheirphenotypicpropertiesincultureandlosttheirabilitytoformtumorsinnudemiceThelossofthechromosome6frommelanomamicrocellhybridsresultedinreversiontotumorigenicityofthesecellsinmiceByfluorescenceinsituhybridizationRayetal(1996)localizedthehumanAIM1geneto6q21withintheputativechromosome6tumorsuppressorregionforhumanmelanomaUponcharacterizationoftheAIM1geneanditsmajortranscriptsRayetal(1997)unexpectedlyfoundthatAIM1belongstothebetagammacrystallinsuperfamily(see123610)Allknownmembersofthissuperfamilycontain2or4characteristicmotifsarrangedin1or2symmetricaldomainsAIM1incontrastcontains12betagammamotifssuggestinga6domainstructureresemblingatrimerofbetaorgammacrystallinsubunitsThestructureoftheAIM1geneshowsremarkablesimilaritytothebetacrystallingeneswithhomologousintronsdelineatingequivalentproteinstructuralunitsRayetal(1997)notedthatAIM1wasthefirstmammalianmemberofthebetagammasuperfamilywithaprimarilynonlensroleOtherpartsofthepredictedAIM1proteinsequencehaveweaksimilaritywithfilamentoractinbindingproteinsTheauthorssuggestedthatAIM1isagoodcandidatefortheputativesuppressorofmalignantmelanomaonchromosome6(Trentetal1990)possiblyexertingitseffectsthroughinteractionswiththecytoskeletonTeichmannetal(1998)determinedthattheAim1geneislocatedonmousechromosome10inaconservedlinkagegroupwithgeneslocalizedtohuman6q21REFERENCES1RayMESuYAMeltzerPSTrentJMIsolationandcharacterizationofgenesassociatedwithchromosome6mediatedtumorsuppressioninhumanmalignantmelanomaOncogene12252725331996PubMedID87005112RayMEWistowGSuYAMeltzerPSTrentJMAIM1anovelnonlensmemberofthebetagammacrystallinsuperfamilyisassociatedwiththecontroloftumorigenicityinhumanmalignantmelanomaProcNatAcadSci94322932341997PubMedID90963753TeichmannURayMEEllisonJGrahamCWistowGMeltzerPSTrentJMPavanWJCloningandtissueexpressionofthemouseorthologofAIM1abetagammacrystallinsuperfamilymemberMammalianGenome97157201998PubMedID97166564TrentJMStanbridgeEJMcBrideHLMeeseEUCaseyGAraujoDEWitkowskiCMNagleRBTumorigenicityinhumanmelanomacelllinescontrolledbyintroductionofhumanchromosome6Science2475685711990PubMedID2300817CONTRIBUTORSVictorAMcKusickupdated9/18/1998VictorAMcKusickupdated6/5/1997CREATIONDATEVictorAMcKusick5/13/1997EDITHISTORYcarol12/3/2003alopez8/19/1999alopez8/19/1999dkim9/23/1998terry9/18/1998mark6/13/1997terry6/5/1997mark5/14/1997jenny5/13/1997Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH