IntAct European Bioinformatics Institute IntAct intact http://www.ebi.ac.uk/ http://www.ebi.ac.uk/intact/query/${ac} EBI-[0-9]+|IA:[0-9]+ INTerAction database (IntAct) provides an open source database and toolkit for the storage, presentation and analysis of molecular interactions. http://www.ebi.ac.uk/intact European Bioinformatics Institute; Wellcome Trust Genome Campus; Hinxton, Cambridge; CB10 1SD; United Kingdom http://www.ebi.ac.uk/intact/ The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. Human molecular genetics 2011 imex curation Lopes VS., Gibbs D., Libby RT., Aleman TS., Welch DL., Lillo C., Jacobson SG., Radu RA., Steel KP., Williams DS. Dark Space Dataset = no8? dswilliams@ucla.edu 11-Apr-2016: Contacted by IntAct-Help. Only protein-protein interactions imex curation mouse-retina Mus musculus retina retina retinal tissue anti bait coip anti bait coimmunoprecipitation anti bait coip western blot western blot Immuno blot Immuno blot Lopes VS., Gibbs D., Libby RT., Aleman TS., Welch DL., Lillo C., Jacobson SG., Radu RA., Steel KP., Williams DS. Dark Space Dataset = no8? dswilliams@ucla.edu Accepted 2016-APR-05 AT 07:56 BST AT 07:56 BST by ORCHARD Human molecular genetics 2011 Only protein-protein interactions imex curation imex curation The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. Human molecular genetics 2011 imex curation Lopes VS., Gibbs D., Libby RT., Aleman TS., Welch DL., Lillo C., Jacobson SG., Radu RA., Steel KP., Williams DS. Dark Space Dataset = no8? dswilliams@ucla.edu 11-Apr-2016: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-arpe_19 Homo sapiens retinal pigment epithelial cell line ARPE-19 arpe_19 Human retinal pigment epithelial cells ARPE-19 The ATCC reference is CRL-2302. ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident. The cells were subjected to selective trypsinization for the first four passages to remove superficial cells before passaging the cuboidal basal layer. By passage 5, the cultures appeared to be rapidly growing RPE cells, which would form cobblestone monolayers, which pigmented after several months in culture. The line was established in a 1:1 mixture of Dulbecco's modified Eagles medium and Ham's F12 medium with HEPES buffer containing 20% fetal bovine serum, 56 mM final concentration sodium bicarbonate and 2 mM L-glutamine and incubated at 37C in 10% CO2. These cells form stable monolayers, which exhibit morphological and functional polarity. ARPE-19 expresses the RPE-specific markers CRALBP and RPE-65. The cells exhibit morphological polarization when plated on laminin-coated Transwell-COL filters in medium with a low serum concentration. They form tight-junctions with transepithelial resistance of monolayers reaching a maximum of 50 to 100 ohms/cm2 after 4 weeks of culture. The cells are diploid and can be carried for over 30 passages. Progeny were found to undergo an additional 48 population doublings in longevity trials performed during characterization at ATCC. confocal microscopy confocal microscopy tag fluorescence tag visualisation by fluorescence tag fluorescence Lopes VS., Gibbs D., Libby RT., Aleman TS., Welch DL., Lillo C., Jacobson SG., Radu RA., Steel KP., Williams DS. Dark Space Dataset = no8? dswilliams@ucla.edu Accepted 2016-APR-05 AT 07:56 BST AT 07:56 BST by ORCHARD Human molecular genetics 2011 Only protein-protein interactions imex curation imex curation The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. Human molecular genetics 2011 imex curation Lopes VS., Gibbs D., Libby RT., Aleman TS., Welch DL., Lillo C., Jacobson SG., Radu RA., Steel KP., Williams DS. Dark Space Dataset = no8? dswilliams@ucla.edu 11-Apr-2016: Contacted by IntAct-Help. Only protein-protein interactions imex curation mouse-eye Mouse EYE eye EYE confocal microscopy confocal microscopy immunocytochemistry immunocytochemistry Lopes VS., Gibbs D., Libby RT., Aleman TS., Welch DL., Lillo C., Jacobson SG., Radu RA., Steel KP., Williams DS. Dark Space Dataset = no8? Light adapted eyecups dswilliams@ucla.edu Accepted 2016-APR-05 AT 07:56 BST AT 07:56 BST by ORCHARD Human molecular genetics 2011 Only protein-protein interactions imex curation imex curation myo7a_mouse Unconventional myosin-VIIa Myo7a Myo7 protein protein mouse Mus musculus Mouse MVILQKGDYVWMDLKSGQEFDVPIGAVVKLCDSGQIQVVDDEDNEHWISPQNATHIKPMHPTSVHGVEDMIRLGDLNEAGILRNLLIRYRDHLIYTYTGSILVAVNPYQLLSIYSPEHIRQYTNKKIGEMPPHIFAIADNCYFNMKRNNRDQCCIISGESGAGKTESTKLILQFLAAISGQHSWIEQQVLEATPILEAFGNAKTIRNDNSSRFGKYIDIHFNKRGAIEGAKIEQYLLEKSRVCRQAPDERNYHVFYCMLEGMNEEEKKKLGLGQAADYNYLAMGNCITCEGRVDSQEYANIRSAMKVLMFTDTENWEISKLLAAILHMGNLQYEARTFENLDACEVLFSPSLATAASLLEVNPPDLMSCLTSRTLITRGETVSTPLSREQALDVRDAFVKGIYGRLFVWIVEKINAAIYKPPPLEVKNSRRSIGLLDIFGFENFTVNSFEQLCINFANEHLQQFFVRHVFKLEQEEYDLESIDWLHIEFTDNQEALDMIANRPMNVISLIDEESKFPKGTDATMLHKLNSQHKLNANYVPPKNSHETQFGINHFAGVVYYESQGFLEKNRDTLHGDIIQLVHSSRNKFIKQIFQADVAMGAETRKRSPTLSSQFKRSLELLMRTLGACQPFFVRCIKPNEFKKPMLFDRHLCVRQLRYSGMMETIRIRHAGYPIRYSFVEFVERYRVLLPGVKPAYKQGDLRGTCQRMAEAVLGTHDDWQIGKTKIFLKDHHDMLLEVERDKAITDRVILLQKVIRGFKDRSNFLRLKSAATLIQRHWRGHHCRKNYELIRLGFLRLQALHRSRKLHKQYRLARQRIIEFQARCRAYLVRKAFRHRLWAVITVQAYARGMIARRLHRRLRVEYQRRLEAERMRLAEEEKLRKEMSAKKAKEEAERKHQERLAQLAREDAERELKEKEEARRKKELLEQMEKARHEPINHSDMVDKMFGFLGTSGSLPGQEGQAPSGFEDLERGRREMVEEDVDAALPLPDEDEEDLSEYKFAKFAATYFQGTTTHSYTRRPLKQPLLYHDDEGDQLAALAVWITILRFMGDLPEPKYHTAMSDGSEKIPVMTKIYETLGKKTYKRELQALQGEGETQLPEGQKKTSVRHKLVHLTLKKKSKLTEEVTKRLNDGESTVQGNSMLEDRPTSNLEKLHFIIGNGILRPALRDEIYCQISKQLTHNPSKSSYARGWILVSLCVGCFAPSEKFVKYLRNFIHGGPPGYAPYCEERLRRTFVNGTRTQPPSWLELQATKSKKPIMLPVTFMDGTTKTLLTDSATTARELCNALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVMDAISQCEQYAKEQGAQERNAPWRLFFRKEVFTPWHNPSEDNVATNLIYQQVVRGVKFGEYRCEKEDDLAELASQQYFVDYGSEMILERLLSLVPTYIPDREITPLKNLEKWAQLAIAAHKKGIYAQRRTDSQKVKEDVVNYARFKWPLLFSRFYEAYKFSGPPLPKSDVIVAVNWTGVYFVDEQEQVLLELSFPEIMAVSSSRECRVLLSLGCSDLGCATCQSGRAGLTPAGPCSPCWSCRGTKMMAPSFTLATIKGDEYTFTSSNAEDIRDLVVTFLEGLRKRSKYVVALQDNPNPAGEESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDCVYVMPTVTLPPREIVALVTMTPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARGKDRLWSHTREPLKQALLKKILGSEELSQEACMAFVAVLKYMGDYPSKRMRSVNELTDQIFEWALKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQSRKHCPLAIDCLQRLQKALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVESSTKAKDFCQNIASRLLLKSSEGFSLFVKIADKVISVPENDFFFDFVRHLTDWIKKARPIKDGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCTREEVLQLGALIYRVKFEEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAFLKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKYGVSLIDPRTKDILTTHPFTKISNWSSGNTYFHITIGNLVRGSKLLCETSLGYKMDDLLTSYISQMLTAMSKQRNSRSGR D942FC7674B75EC7 rpe65_human Retinoid isomerohydrolase All-trans-retinyl-palmitate hydrolase Retinal pigment epithelium-specific 65 kDa protein Retinol isomerase RPE65 Meso-zeaxanthin isomerase Lutein isomerase protein protein human Homo sapiens Human MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS 7193C93F3325798D myo7a_human Unconventional myosin-VIIa MYO7A USH1B protein protein human Homo sapiens Human MVILQQGDHVWMDLRLGQEFDVPIGAVVKLCDSGQVQVVDDEDNEHWISPQNATHIKPMHPTSVHGVEDMIRLGDLNEAGILRNLLIRYRDHLIYTYTGSILVAVNPYQLLSIYSPEHIRQYTNKKIGEMPPHIFAIADNCYFNMKRNSRDQCCIISGESGAGKTESTKLILQFLAAISGQHSWIEQQVLEATPILEAFGNAKTIRNDNSSRFGKYIDIHFNKRGAIEGAKIEQYLLEKSRVCRQALDERNYHVFYCMLEGMSEDQKKKLGLGQASDYNYLAMGNCITCEGRVDSQEYANIRSAMKVLMFTDTENWEISKLLAAILHLGNLQYEARTFENLDACEVLFSPSLATAASLLEVNPPDLMSCLTSRTLITRGETVSTPLSREQALDVRDAFVKGIYGRLFVWIVDKINAAIYKPPSQDVKNSRRSIGLLDIFGFENFAVNSFEQLCINFANEHLQQFFVRHVFKLEQEEYDLESIDWLHIEFTDNQDALDMIANKPMNIISLIDEESKFPKGTDTTMLHKLNSQHKLNANYIPPKNNHETQFGINHFAGIVYYETQGFLEKNRDTLHGDIIQLVHSSRNKFIKQIFQADVAMGAETRKRSPTLSSQFKRSLELLMRTLGACQPFFVRCIKPNEFKKPMLFDRHLCVRQLRYSGMMETIRIRRAGYPIRYSFVEFVERYRVLLPGVKPAYKQGDLRGTCQRMAEAVLGTHDDWQIGKTKIFLKDHHDMLLEVERDKAITDRVILLQKVIRGFKDRSNFLKLKNAATLIQRHWRGHNCRKNYGLMRLGFLRLQALHRSRKLHQQYRLARQRIIQFQARCRAYLVRKAFRHRLWAVLTVQAYARGMIARRLHQRLRAEYLWRLEAEKMRLAEEEKLRKEMSAKKAKEEAERKHQERLAQLAREDAERELKEKEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSGGLPGQEGQAPSGFEDLERGRREMVEEDLDAALPLPDEDEEDLSEYKFAKFAATYFQGTTTHSYTRRPLKQPLLYHDDEGDQLAALAVWITILRFMGDLPEPKYHTAMSDGSEKIPVMTKIYETLGKKTYKRELQALQGEGEAQLPEGQKKSSVRHKLVHLTLKKKSKLTEEVTKRLHDGESTVQGNSMLEDRPTSNLEKLHFIIGNGILRPALRDEIYCQISKQLTHNPSKSSYARGWILVSLCVGCFAPSEKFVKYLRNFIHGGPPGYAPYCEERLRRTFVNGTRTQPPSWLELQATKSKKPIMLPVTFMDGTTKTLLTDSATTAKELCNALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVMDAISQCEQYAKEQGAQERNAPWRLFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFGEYRCEKEDDLAELASQQYFVDYGSEMILERLLNLVPTYIPDREITPLKTLEKWAQLAIAAHKKGIYAQRRTDAQKVKEDVVSYARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVNWTGVYFVDEQEQVLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAAPHSGWAGLTPAGPCSPCWSCRGAKTTAPSFTLATIKGDEYTFTSSNAEDIRDLVVTFLEGLRKRSKYVVALQDNPNPAGEESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDSVYVMPTVTMPPREIVALVTMTPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARGKDRLWSHTREPLKQALLKKLLGSEELSQEACLAFIAVLKYMGDYPSKRTRSVNELTDQIFEGPLKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQSRKHCPLAIDCLQRLQKALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVESSTKAKDFCQNIATRLLLKSSEGFSLFVKIADKVLSVPENDFFFDFVRHLTDWIKKARPIKDGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCTREEVLQLGALIYRVKFEEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAFLKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKYGVSLIDPKTKDILTTHPFTKISNWSSGNTYFHITIGNLVRGSKLLCETSLGYKMDDLLTSYISQMLTAMSKQRGSRSGK mint Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. In retina, myosin VIIa might play a role in trafficking of ribbon-synaptic vesicle complexes and renewal of the outer photoreceptors disks. In inner ear, it might maintain the rigidity of stereocilia during the dynamic movements of the bundle. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity Defects in MYO7A are the cause of Usher syndrome type 1B (USH1B) [MIM:276900]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness Defects in MYO7A are the cause of non-syndromic sensorineural deafness autosomal recessive type 2 (DFNB2) [MIM:600060]; also called neurosensory non-syndromic recessive deafness 2 (NSRD2). DFNB2 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information{EC15,EC16} Defects in MYO7A are the cause of non-syndromic sensorineural deafness autosomal dominant type 11 (DFNA11) [MIM:601317] 9F921DB43FD9BE1E rpe65_mouse Retinoid isomerohydrolase All-trans-retinyl-palmitate hydrolase Retinal pigment epithelium-specific 65 kDa protein Retinol isomerase Rpe65 Meso-zeaxanthin isomerase Lutein isomerase protein protein mouse Mus musculus Mouse MSIQIEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFKGVEVTDNALVNIYPVGEDYYACTETNFITKINPETLETIKQVDLCNYISVNGATAHPHIESDGTVYNIGNCFGKNFTVAYNIIKIPPLKADKEDPINKSEVVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNESMGVWLHVADKKRRKYFNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKRNAMKAPQPEVRRYVLPLTIDKVDTGRNLVTLPHTTATATLRSDETIWLEPEVLFSGPRQAFEFPQINYQKFGGKPYTYAYGLGLNHFVPDKLCKMNVKTKEIWMWQEPDSYPSEPIFVSQPDALEEDDGVVLSVVVSPGAGQKPAYLLVLNAKDLSEIARAEVETNIPVTFHGLFKRS BBDA3EBDF5B7A5E2 rpe65-myo7a-1 1 4 unspecified role unspecified role prey prey 7 unspecified role unspecified role bait bait met450leu variant variant certain certain sequence position certain certain certain sequence position certain M L physical association physical association 5 rpe65-myo7a-2 1 4 unspecified role unspecified role bait bait 7 unspecified role unspecified role prey prey met450leu variant variant certain certain sequence position certain certain certain sequence position certain M L physical association physical association 5i myo7a-rpe65-1 2 6 unspecified role unspecified role neutral component neutral component n_terminus gfp tag green fluorescent protein tag GFP green fluorescent protein GFP green fluorescent protein gfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range 5 unspecified role unspecified role neutral component neutral component n_terminus rfp tag red fluorescent protein tag red fluorescent protein RFP red fluorescent protein RFP rfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range colocalization colocalization 6C myo7a-rpe65-2 3 4 unspecified role unspecified role neutral component neutral component 7 unspecified role unspecified role neutral component neutral component met450leu variant variant certain certain sequence position certain certain certain sequence position certain M L colocalization colocalization 6D-G Colocalization of the two proteins was evident primarily in the central regions of the RPE (retinal pigmented epithelium).