OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardAll1OMIMdbSNP0OMIMUniSTS0*604304LinksACTINLIKE7BACTL7BTEXTDESCRIPTIONActins(eg102610)andactinrelatedproteins(ARPs)aremembersofasuperfamilyofproteinsthathaveanactinfoldwhichisanATPbindingcleftasthecommonfeatureARPsaresignificantlylongerthanconventionalactinswiththedifferenceinlengthusuallyaccountedforbypeptideinsertionswithinthemoredivergentproteinregionssurroundingtheATPbindingcleftChadwicketal(1999)CLONINGBysearchingaDNAsequencedatabasewithahumangenomicsequencefromtheBAC234B17Chadwicketal(1999)identifiedageneencodingaproteinwithsequencesimilaritytoavarietyofactinproteinsSincethisnovelproteinsharedhighersequencesimilaritywithACTL7A(604303)thanwithanyotherknownactinlikeproteintheauthorsnameditACTL7BThededuced415aminoacidproteincontainsasingleconservedproteinkinaseCsiteandasingleconservedcAMP/cGMPdependentphosphorylationsiteAswithotherARPsACTL7BissignificantlylongerthanconventionalactinsHoweverunlikeotherARPsthedifferenceinsizeofACTL7BisnotduetoinsertionswithintheproteinregionssurroundingtheATPbindingcleftbutratheriscausedbyanextensionoftheNterminalregionHumanACTL7Bshares88%aminoacididentitywithmouseActl7bwhichtheauthorsalsoidentifiedNorthernblotanalysisofhumanadulttissuesdetecteda18kbACTL7BtranscriptthatwasstronglyexpressedintestisandweaklyexpressedinprostateGENESTRUCTUREChadwicketal(1999)determinedthattheACTL7BgeneisintronlessTheauthorsfoundthattheACTL7AandACTL7Bgenesarelocatedapproximately4kbapartinaheadtoheadorientationwithinthefamilialdysautonomia(DYS223900)candidateregionin9q31MAPPINGBygenomicsequenceanalysisChadwicketal(1999)determinedthattheACTL7Bgeneislocatedonchromosome9q31BylinkageanalysisusinganinterspecificbackcrossChadwicketal(1999)mappedthemouseActl7bgenetochromosome4inaregionshowinghomologyofsyntenywithhuman9q31REFERENCES1ChadwickBPMullJHelblingLAGillSLeyneMRobbinsCMPinkettHWMakalowskaIMaayanCBlumenfeldAAxelrodFBBrownsteinMGusellaJFSlaugenhauptSACloningmappingandexpressionoftwonovelactingenesactinlike7A(ACTL7A)andactinlike7B(ACTL7B)fromthefamilialdysautonomiacandidateregionon9q31Genomics583023091999PubMedID10373328CONTRIBUTORSVictorAMcKusickupdated8/8/2003CREATIONDATEPattiMSherman11/18/1999EDITHISTORYjoanna1/12/2007mgross8/8/2003terry8/8/2003mgross12/10/1999mgross12/9/1999psherman12/6/1999Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH