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/ http://www.ebi.ac.uk/ liang-2011-2 human-hela Homo sapiens epitheloid cervix carcinoma cells Human hela Human epitheloid cervix carcinoma HeLa cells derivation: cervix; epithelial; adenocarcinoma ATCC no:CCL-2 anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Liang WC., Mitsuhashi H., Keduka E., Nonaka I., Noguchi S., Nishino I., Hayashi YK. Rare diseases - Interactions investigated in the context of Rare genetic disease hayasi_y@ncnp.go.jp Annals of neurology 2011 Only protein-protein interactions imex curation imex curation liang-2011-5 human-hela Homo sapiens epitheloid cervix carcinoma cells Human hela Human epitheloid cervix carcinoma HeLa cells derivation: cervix; epithelial; adenocarcinoma ATCC no:CCL-2 fluorescence imaging fluorescence microscopy fluorescence imaging immunocytochemistry immunocytochemistry Liang WC., Mitsuhashi H., Keduka E., Nonaka I., Noguchi S., Nishino I., Hayashi YK. Rare diseases - Interactions investigated in the context of Rare genetic disease hayasi_y@ncnp.go.jp Annals of neurology 2011 Only protein-protein interactions imex curation imex curation liang-2011-3 human-hela Homo sapiens epitheloid cervix carcinoma cells Human hela Human epitheloid cervix carcinoma HeLa cells derivation: cervix; epithelial; adenocarcinoma ATCC no:CCL-2 anti tag coip anti tag coimmunoprecipitation anti tag coip western blot western blot Immuno blot Immuno blot Liang WC., Mitsuhashi H., Keduka E., Nonaka I., Noguchi S., Nishino I., Hayashi YK. Rare diseases - Interactions investigated in the context of Rare genetic disease hayasi_y@ncnp.go.jp Annals of neurology 2011 Only protein-protein interactions imex curation imex curation liang-2011-4 human-hela Homo sapiens epitheloid cervix carcinoma cells Human hela Human epitheloid cervix carcinoma HeLa cells derivation: cervix; epithelial; adenocarcinoma ATCC no:CCL-2 anti bait coip anti bait coimmunoprecipitation anti bait coip anti tag western anti tag western blot anti tag western Liang WC., Mitsuhashi H., Keduka E., Nonaka I., Noguchi S., Nishino I., Hayashi YK. Rare diseases - Interactions investigated in the context of Rare genetic disease hayasi_y@ncnp.go.jp Annals of neurology 2011 Only protein-protein interactions imex curation imex curation liang-2011-6 human-skeletal-muscle Homo sapiens skeletal muscle. skeletal_muscle Skeletal muscle fluorescence imaging fluorescence microscopy fluorescence imaging immunohistochemistry immunohistochemistry Liang WC., Mitsuhashi H., Keduka E., Nonaka I., Noguchi S., Nishino I., Hayashi YK. Rare diseases - Interactions investigated in the context of Rare genetic disease hayasi_y@ncnp.go.jp Annals of neurology 2011 Only protein-protein interactions imex curation imex curation liang-2011-7 human-skeletal-muscle Homo sapiens skeletal muscle. skeletal_muscle Skeletal muscle fluorescence imaging fluorescence microscopy fluorescence imaging immunostaining immunostaining Liang WC., Mitsuhashi H., Keduka E., Nonaka I., Noguchi S., Nishino I., Hayashi YK. Rare diseases - Interactions investigated in the context of Rare genetic disease c.82+5G>C mutation in EMD was not annotated as there the resulting protein sequence is unknown hayasi_y@ncnp.go.jp Annals of neurology 2011 Only protein-protein interactions imex curation imex curation tmm43_human Transmembrane protein 43 TMEM43 UNQ2564/PRO6244 Protein LUMA protein protein human Homo sapiens Human MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKTATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRELRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE emd_human Emerin EDMD STA EMD protein protein human Homo sapiens Human MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLFFIYHFMQAEEGNPF sun2_human SUN domain-containing protein 2 Sad1/unc-84 protein-like 2 Rab5-interacting protein SUN2 FRIGG KIAA0668 RAB5IP UNC84B Protein unc-84 homolog B protein protein human Homo sapiens Human MSRRSQRLTRYSQGDDDGSSSSGGSSVAGSQSTLFKDSPLRTLKRKSSNMKRLSPAPQLGPSSDAHTSYYSESLVHESWFPPRSSLEELHGDANWGEDLRVRRRRGTGGSESSRASGLVGRKATEDFLGSSSGYSSEDDYVGYSDVDQQSSSSRLRSAVSRAGSLLWMVATSPGRLFRLLYWWAGTTWYRLTTAASLLDVFVLTRRFSSLKTFLWFLLPLLLLTCLTYGAWYFYPYGLQTFHPALVSWWAAKDSRRPDEGWEARDSSPHFQAEQRVMSRVHSLERRLEALAAEFSSNWQKEAMRLERLELRQGAPGQGGGGGLSHEDTLALLEGLVSRREAALKEDFRRETAARIQEELSALRAEHQQDSEDLFKKIVRASQESEARIQQLKSEWQSMTQESFQESSVKELRRLEDQLAGLQQELAALALKQSSVAEEVGLLPQQIQAVRDDVESQFPAWISQFLARGGGGRVGLLQREEMQAQLRELESKILTHVAEMQGKSAREAAASLSLTLQKEGVIGVTEEQVHHIVKQALQRYSEDRIGLADYALESGGASVISTRCSETYETKTALLSLFGIPLWYHSQSPRVILQPDVHPGNCWAFQGPQGFAVVRLSARIRPTAVTLEHVPKALSPNSTISSAPKDFAIFGFDEDLQQEGTLLGKFTYDQDGEPIQTFHFQAPTMATYQVVELRILTNWGHPEYTCIYRFRVHGEPAH tmem43-tmem43-1 3612889 N/A 3612895 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminal region v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range false N/A 3612895 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminal region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range false Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false Q9BTV4:p.Ile91Val mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false Fig. 2b tmem43-tmem43-2 3612889 N/A 3612895 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminal region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range false N/A 3612895 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminal region v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range false Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false Q9BTV4:p.Ile91Val mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false Fig. 2b tmem43-tmem43-3 3612889 N/A 3612895 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminal region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range false Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false N/A 3612895 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminal region v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range false Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false Fig. 2b tmem43-tmem43-4 3612889 N/A 3612895 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminal region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range false Q9BTV4:p.Ile91Val mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false N/A 3612895 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminal region v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range false Q9BTV4:p.Ile91Val mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false Fig. 2b emd-tmem43-1 3612890 N/A 3612896 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell N/A 3612895 unspecified role unspecified role neutral component neutral component over-expressed over expressed level over-expressed fixed cell fixed cell Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false Q9BTV4:p.Ile91Val mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false tag v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false colocalization colocalization false false false FIGURE 4a sun2-tmem43-1 3612890 N/A 3612897 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell N/A 3612895 unspecified role unspecified role neutral component neutral component over-expressed over expressed level over-expressed fixed cell fixed cell tag v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false Q9BTV4:p.Ile91Val mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false colocalization colocalization false false false Fig. 4b tmem43-emd-1 3612891 N/A 3612897 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level N/A 3612896 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level N/A 3612895 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell Q9BTV4:p.Glu85Lys mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false Q9BTV4:p.Ile91Val mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false c-terminal region v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range false association association false false false Fig. 2c tmem43-emd-2 3612892 N/A 3612896 unspecified role unspecified role bait bait living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level N/A 3612895 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell Q9BTV4:p.Glu85Lys mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false Q9BTV4:p.Ile91Val mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false c-terminal region v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range false physical association physical association false false false Fig. 2c emd-tmem43-2 3612893 N/A 3612896 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell N/A 3612895 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false Q9BTV4:p.Ile91Val mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false colocalization colocalization false false false Fig. 1c emd-tmem43-3 3612894 N/A 3612896 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell N/A 3612895 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell colocalization colocalization false false false Fig. S2