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/ TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Annals of neurology 2011 imex curation 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 28-Sep-2020: Contacted by IntAct-Help. Only protein-protein interactions imex curation 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 Accepted 2020-JUL-21 AT 08:39 BST AT 08:39 BST by MGT Annals of neurology 2011 Only protein-protein interactions imex curation imex curation TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Annals of neurology 2011 imex curation 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 28-Sep-2020: Contacted by IntAct-Help. Only protein-protein interactions imex curation 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 Accepted 2020-JUL-21 AT 08:39 BST AT 08:39 BST by MGT Annals of neurology 2011 Only protein-protein interactions imex curation imex curation TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Annals of neurology 2011 imex curation 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 28-Sep-2020: Contacted by IntAct-Help. Only protein-protein interactions imex curation 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 Accepted 2020-JUL-21 AT 08:39 BST AT 08:39 BST by MGT Annals of neurology 2011 Only protein-protein interactions imex curation imex curation TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Annals of neurology 2011 imex curation 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 28-Sep-2020: Contacted by IntAct-Help. Only protein-protein interactions imex curation 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 Accepted 2020-JUL-21 AT 08:39 BST AT 08:39 BST by MGT Annals of neurology 2011 Only protein-protein interactions imex curation imex curation TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Annals of neurology 2011 imex curation 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 28-Sep-2020: Contacted by IntAct-Help. Only protein-protein interactions imex curation 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 Accepted 2020-JUL-21 AT 08:39 BST AT 08:39 BST by MGT Annals of neurology 2011 Only protein-protein interactions imex curation imex curation TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Annals of neurology 2011 imex curation 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 28-Sep-2020: Contacted by IntAct-Help. Only protein-protein interactions imex curation 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 Accepted 2020-JUL-21 AT 08:39 BST AT 08:39 BST by MGT Annals of neurology 2011 Only protein-protein interactions imex curation imex curation 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 CCF43C118E935E84 tmm43_human Transmembrane protein 43 TMEM43 UNQ2564/PRO6244 Protein LUMA protein protein human Homo sapiens Human MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKTATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRELRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE 70FDDD4ED1AA11DF emd_human Emerin EDMD STA EMD protein protein human Homo sapiens Human MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLFFIYHFMQAEEGNPF DIP protein P50402 original sequence version: 95 DIP protein P50402 original sequence version: 125 EB62EDD59B7A044F tmem43-tmem43-1 4 8 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 8 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 Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain E K Tue Jun 30 17:41:12 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Glu85Lys' 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 I V Tue Jun 30 18:03:20 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile91Val' physical association physical association Fig. 2b tmem43-tmem43-2 4 8 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 8 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 Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain E K Tue Jun 30 18:11:04 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Glu85Lys' 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 I V Tue Jun 30 19:46:08 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile91Val' physical association physical association Fig. 2b tmem43-tmem43-3 4 8 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 Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain E K Tue Jun 30 17:35:39 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Glu85Lys' 8 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 Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain E K Tue Jun 30 16:33:10 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Glu85Lys' physical association physical association Fig. 2b tmem43-tmem43-4 4 8 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 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 I V Tue Jun 30 16:10:40 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile91Val' 8 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 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 I V Tue Jun 30 15:45:23 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile91Val' physical association physical association Fig. 2b tmem43-emd-1 6 7 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 9 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 8 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 E K Tue Jun 30 16:24:58 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Glu85Lys' 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 I V Tue Jun 30 19:55:47 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile91Val' 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 association association Fig. 2c tmem43-emd-2 1 9 unspecified role unspecified role bait bait living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 8 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 E K Tue Jun 30 18:54:16 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Glu85Lys' 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 I V Tue Jun 30 18:20:22 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile91Val' 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 physical association physical association Fig. 2c emd-tmem43-1 5 9 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell 8 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 E K Tue Jun 30 17:14:47 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Glu85Lys' Q9BTV4:p.Ile91Val mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain I V Tue Jun 30 17:22:13 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile91Val' tag v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined colocalization colocalization FIGURE 4a emd-tmem43-2 3 9 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell 8 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 E K Tue Jun 30 18:13:22 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Glu85Lys' 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 I V Tue Jun 30 20:22:43 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile91Val' colocalization colocalization Fig. 1c emd-tmem43-3 2 9 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell 8 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell colocalization colocalization Fig. S2 sun2-tmem43-1 5 7 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell 8 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 Q9BTV4:p.Glu85Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain E K Q9BTV4:p.Ile91Val mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain I V colocalization colocalization Fig. 4b