OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardAll1OMIMdbSNP0OMIMUniSTS0*609199LinksADAMTSLIKEPROTEIN3ADAMTSL3AlternativetitlessymbolsPUNCTIN2KIAA1233TEXTCLONINGBysequencingclonesobtainedfromasizefractionatedfetalbraincDNAlibraryNagaseetal(1999)clonedADAMTSL3whichtheydesignatedKIAA1233Thededucedproteincontainsimmunoglobulin(Ig)andthrombospondinI(188060)domainsRTPCRELISAdetectedmoderateexpressioninmostadultandfetaltissuesandspecificbrainregionsexaminedSlightlyhigherexpressionwasfoundinspinalcordandlowerexpressionwasfoundinspleenandtestisBysearchinganESTdatabaseforsequencessimilartopunctin1(ADAMTSL1609198)followedby5primeand3primeRACEandPCRofaplacentacDNAlibraryHalletal(2003)clonedfulllengthADAMTSL3whichtheycalledpunctin2Thededuced1690aminoacidproteincontainsanNterminalsignalpeptidefollowedbyathrombospondinIrepeatacysteinerichregionaspacer8thrombospondinIrepeats3Iglikemodules4thrombospondinIrepeatsandaCterminalPLACdomainFollowingremovalofthesignalpeptidethematuresecretedproteinhasacalculatedmolecularmassof186kDPunctin2has16putativeNglycosylationsitesNorthernblotanalysisdetecteda75kbmRNAthatwasexpressedathighlevelsinheartkidneyandliveratmoderatelevelsinskeletalmusclesmallintestinelungandplacentaandatlowlevelsincolonandspleenNoexpressionwasdetectedinothertissuesexaminedPunctin2wasexpressedasa75kbtranscriptinmouseembryosinthesecondhalfofgestationGlycosidasetreatmentconfirmedthatpunctin2isaglycoproteinWesternblotanalysisdetectedpunctin2intheextracellularmatrixconditionedmediumandlysatesoftransfectedCOS7cellsStainingofthesubstratumfollowingcelldetachmentconfirmedextracellularmatrixlocalizationMAPPINGBygenomicsequenceanalysisHalletal(2003)mappedthehumanADAMTSL3genetochromosome15andthemouseAdamtsl3genetochromosome7REFERENCES1HallNGKlenoticPAnandApteBApteSADAMTSL3/punctin2anovelglycoproteininextracellularmatrixrelatedtotheADAMTSfamilyofmetalloproteasesMatrixBiol225015102003PubMedID146678422NagaseTIshikawaKKikunoRHirosawaMNomuraNOharaOPredictionofthecodingsequencesofunidentifiedhumangenesXVThecompletesequencesof100newcDNAclonesfrombrainwhichcodeforlargeproteinsinvitroDNARes63373451999PubMedID10574462CREATIONDATEPatriciaAHartz2/9/2005EDITHISTORYmgross2/9/2005Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH