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/ Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Eur. J. Biochem. (0014-2956) 2004 Haraguchi T., Holaska JM., Yamane M., Koujin T., Hashiguchi N., Mori C., Wilson KL., Hiraoka Y. tokuko@crl.go.jp in vitro In vitro far western blotting far western blotting Affinity blotting Affinity blotting polyclonal western polyclonal antibody western blot polyclonal western Haraguchi T., Holaska JM., Yamane M., Koujin T., Hashiguchi N., Mori C., Wilson KL., Hiraoka Y. tokuko@crl.go.jp Eur. J. Biochem. (0014-2956) 2004 Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Eur. J. Biochem. (0014-2956) 2004 Haraguchi T., Holaska JM., Yamane M., Koujin T., Hashiguchi N., Mori C., Wilson KL., Hiraoka Y. tokuko@crl.go.jp in vitro In vitro spa scintillation proximity assay SPA RIA Radio Immuno Assay spa predetermined predetermined participant predetermined Haraguchi T., Holaska JM., Yamane M., Koujin T., Hashiguchi N., Mori C., Wilson KL., Hiraoka Y. tokuko@crl.go.jp Eur. J. Biochem. (0014-2956) 2004 Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Eur. J. Biochem. (0014-2956) 2004 Haraguchi T., Holaska JM., Yamane M., Koujin T., Hashiguchi N., Mori C., Wilson KL., Hiraoka Y. tokuko@crl.go.jp yeasx Saccharomyces cerevisiae (Baker's yeast) Baker's yeast 2 hybrid two hybrid 2H 2h Gal4 transcription regeneration two-hybrid yeast two hybrid 2-hybrid classical two hybrid classical two hybrid 2H two-hybrid 2-hybrid Gal4 transcription regeneration 2h yeast two hybrid Y2H Y-2H 2 hybrid full dna sequence full identification by DNA sequencing full dna sequence Haraguchi T., Holaska JM., Yamane M., Koujin T., Hashiguchi N., Mori C., Wilson KL., Hiraoka Y. tokuko@crl.go.jp Eur. J. Biochem. (0014-2956) 2004 bclf1_human Bcl-2-associated transcription factor 1 BCLAF1 and THRAP3 family member 1 BCLAF1 BTF KIAA0164 protein protein human Homo sapiens Human MGRSNSRSHSSRSKSRSQSSSRSRSRSHSRKKRYSSRSRSRTYSRSRSRDRMYSRDYRRDYRNNRGMRRPYGYRGRGRGYYQGGGGRYHRGGYRPVWNRRHSRSPRRGRSRSRSPKRRSVSSQRSRSRSRRSYRSSRSPRSSSSRSSSPYSKSPVSKRRGSQEKQTKKAEGEPQEESPLKSKSQEEPKDTFEHDPSESIDEFNKSSATSGDIWPGLSAYDNSPRSPHSPSPIATPPSQSSSCSDAPMLSTVHSAKNTPSQHSHSIQHSPERSGSGSVGNGSSRYSPSQNSPIHHIPSRRSPAKTIAPQNAPRDESRGRSSFYPDGGDQETAKTGKFLKRFTDEESRVFLLDRGNTRDKEASKEKGSEKGRAEGEWEDQEALDYFSDKESGKQKFNDSEGDDTEETEDYRQFRKSVLADQGKSFATASHRNTEEEGLKYKSKVSLKGNRESDGFREEKNYKLKETGYVVERPSTTKDKHKEEDKNSERITVKKETQSPEQVKSEKLKDLFDYSPPLHKNLDAREKSTFREESPLRIKMIASDSHRPEVKLKMAPVPLDDSNRPASLTKDRLLASTLVHSVKKEQEFRSIFDHIKLPQASKSTSESFIQHIVSLVHHVKEQYFKSAAMTLNERFTSYQKATEEHSTRQKSPEIHRRIDISPSTLRKHTRLAGEERVFKEENQKGDKKLRCDSADLRHDIDRRRKERSKERGDSKGSRESSGSRKQEKTPKDYKEYKSYKDDSKHKREQDHSRSSSSSASPSSPSSREEKESKKEREEEFKTHHEMKEYSGFAGVSRPRGTFFRIRGRGRARGVFAGTNTGPNNSNTTFQKRPKEEEWDPEYTPKSKKYFLHDDRDDGVDYWAKRGRGRGTFQRGRGRFNFKKSGSSPKWTHDKYQGDGIVEDEEETMENNEEKKDRRKEEKE 8892B98E54F52C20 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 emd-bclaf1-1 3 5 unspecified role unspecified role bait bait minimal_binding_site binding region binding-associated region binding region deletion analysis deletion analysis certain certain sequence position certain certain certain sequence position certain yeasx Saccharomyces cerevisiae (Baker's yeast) Baker's yeast 4 unspecified role unspecified role prey prey region binding region binding-associated region binding region deletion analysis deletion analysis certain certain sequence position certain certain certain sequence position certain yeasx Saccharomyces cerevisiae (Baker's yeast) Baker's yeast 8 10 physical association physical association emd-bclaf1-2 2 4 unspecified role unspecified role prey prey binding site binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain 35s radiolabel radiolabelled radiolabel radiolabeled radiolabelled undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined in vitro In vitro 5 unspecified role unspecified role bait bait region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain P50402:p.Ser54Phe disease-causing mutation mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain S F Wed May 02 18:35:21 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ser54phe' Tue Jun 30 17:07:18 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ser54Phe' undefined mutation disease-causing mutation mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain Wed Jul 06 16:46:00 BST 2016 Sequence change details about this feature cannot be ascertained or do not fit with the current version of the referenced protein, so they have been deleted as a result of our quality control procedures. The original label was 'deletion' P50402:p.Pro183His disease-causing mutation mutation mutation certain certain sequence position certain certain certain sequence position certain P H Wed May 02 16:27:00 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro183his' Tue Jun 30 17:46:25 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro183His' P50402:p.[Asp70Ala;Asp72Ala;Tyr74Ala] mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain D A certain certain sequence position certain certain certain sequence position certain D A certain certain sequence position certain certain certain sequence position certain Y A Wed May 02 18:36:12 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asp70ala,asp72ala,tyr74ala' Tue Jun 30 19:31:03 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Asp70Ala;Asp72Ala;Tyr74Ala]' P50402:p.[Arg45Ala;Arg46Ala;Arg47Ala] mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain R A certain certain sequence position certain certain certain sequence position certain R A certain certain sequence position certain certain certain sequence position certain R A Wed May 02 15:54:25 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg45ala,arg46ala,arg47ala' Tue Jun 30 20:06:40 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Arg45Ala;Arg46Ala;Arg47Ala]' P50402:p.[Leu76Ala;Lys78Ala;Glu80Ala;Leu83Ala] mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain L A certain certain sequence position certain certain certain sequence position certain K A certain certain sequence position certain certain certain sequence position certain E A certain certain sequence position certain certain certain sequence position certain L A Fri Jul 22 10:59:39 BST 2016 This feature has been corrected as a result of our quality control procedures. The original label was 'leu76ala,lys78ala,glu80ala,leu82ala' Wed May 02 15:40:35 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'leu76ala,lys78ala,glu80ala,leu83ala' Tue Jun 30 16:31:44 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Leu76Ala;Lys78Ala;Glu80Ala;Leu83Ala]' P50402:p.Ser175_Ser176delinsAlaAla mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain SS AA Mutation described as SSS174-176AAA but sequence actually RSS Fri Jul 22 11:02:17 BST 2016 This feature has been corrected as a result of our quality control procedures. The original label was 'ser175ala-ser176ala' Wed May 02 18:32:43 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ser_ser175-176ala_ala' Tue Jun 30 15:39:51 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ser175_Ser176delinsAlaAla' P50402:p.[Ser192Ala;Ser194Ala;Ser195Ala;Ser196Ala] mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain S A certain certain sequence position certain certain certain sequence position certain S A certain certain sequence position certain certain certain sequence position certain S A certain certain sequence position certain certain certain sequence position certain S A Fri Jul 22 10:59:09 BST 2016 This feature has been corrected as a result of our quality control procedures. The original label was 'ser192ala,ser194ala, ser195ala,ser196ala' Wed May 02 16:28:51 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ser192ala,ser194ala,ser195ala,ser196ala' Tue Jun 30 20:23:56 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Ser192Ala;Ser194Ala;Ser195Ala;Ser196Ala]' P50402:p.[Ser197Ala;Ser198Ala] mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain S A certain certain sequence position certain certain certain sequence position certain S A Wed May 02 16:55:20 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ser197ala,ser198ala' Tue Jun 30 16:57:08 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Ser197Ala;Ser198Ala]' P50402:p.[Ile206Ala;Arg207Ala;Glu209Ala] mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain R A certain certain sequence position certain certain certain sequence position certain I A certain certain sequence position certain certain certain sequence position certain E A Wed May 02 17:46:23 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ile206ala,arg207ala,glu209ala' Tue Jun 30 16:53:13 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Ile206Ala;Arg207Ala;Glu209Ala]' P50402:p.[Arg207Ala;Pro208Ala] mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain P A certain certain sequence position certain certain certain sequence position certain R A Wed May 02 15:28:41 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg207ala,pro208ala' Tue Jun 30 18:11:41 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Arg207Ala;Pro208Ala]' P50402:p.[Gly214Ala;Leu217Ala] mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain G A certain certain sequence position certain certain certain sequence position certain L A Fri Jul 22 11:04:22 BST 2016 This feature has been corrected as a result of our quality control procedures. The original label was 'gly214ala-leu217ala' Wed May 02 17:48:14 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gly214ala,leu217ala' Tue Jun 30 18:10:40 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gly214Ala;Leu217Ala]' P50402:p.[Tyr34Ala;Glu35Ala;Lys36Ala;Lys37Ala] mutation mutation alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain Y A certain certain sequence position certain certain certain sequence position certain E A certain certain sequence position certain certain certain sequence position certain K A certain certain sequence position certain certain certain sequence position certain K A Wed May 02 16:04:10 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'tyr34ala,glu35ala,lys36ala,lys37ala' Tue Jun 30 18:53:24 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Tyr34Ala;Glu35Ala;Lys36Ala;Lys37Ala]' P50402:p.[Gly112Ala;Pro113Ala;Arg118Ala;Ser120Ala;Thr122Ala] mutation mutation alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain G A certain certain sequence position certain certain certain sequence position certain P A certain certain sequence position certain certain certain sequence position certain R A certain certain sequence position certain certain certain sequence position certain S A certain certain sequence position certain certain certain sequence position certain T A Gln119 described as Glu in publication Fri Jul 22 10:52:51 BST 2016 This feature has been corrected as a result of our quality control procedures. The original label was 'gly112ala,pro113ala,arg118ala,ser120ala, thr122ala' Wed May 02 18:34:16 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gly112ala,pro113ala,arg118ala,ser120ala,thr122ala' Tue Jun 30 18:45:01 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gly112Ala;Pro113Ala;Arg118Ala;Ser120Ala;Thr122Ala]' P50402:p.[Thr122Ala;Ser123Ala] mutation mutation alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain T A certain certain sequence position certain certain certain sequence position certain S A Wed May 02 16:09:18 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'thr122ala,ser123ala' Tue Jun 30 15:37:03 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Thr122Ala;Ser123Ala]' P50402:p.[Glu145Ala;Glu146Ala] mutation mutation alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain E A certain certain sequence position certain certain certain sequence position certain E A Wed May 02 20:03:02 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'glu145ala,glu146ala' Tue Jun 30 17:41:34 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Glu145Ala;Glu146Ala]' P50402:p.[Ile164Ala;Thr165Ala;Tyr167Ala;Val170Ala] mutation mutation alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain T A certain certain sequence position certain certain certain sequence position certain I A certain certain sequence position certain certain certain sequence position certain Y A certain certain sequence position certain certain certain sequence position certain V A Fri Jul 22 11:06:10 BST 2016 This feature has been corrected as a result of our quality control procedures. The original label was 'ile164ala,thr165ala,tyr167ala,val170pro' Wed May 02 17:58:46 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ile164ala,thr165ala,tyr167ala,val170ala' Tue Jun 30 17:44:50 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Ile164Ala;Thr165Ala;Tyr167Ala;Val170Ala]' P50402:p.[Leu179Ala;Ser180Ala] mutation mutation alanine scanning alanine scanning certain certain sequence position certain certain certain sequence position certain L A certain certain sequence position certain certain certain sequence position certain S A Fri Jul 22 11:14:17 BST 2016 This feature has been corrected as a result of our quality control procedures. The original label was 'leu179ala-ser180ala' Wed May 02 14:37:34 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'leu179ala,ser180ala' Tue Jun 30 18:30:28 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Leu179Ala;Ser180Ala]' ecobb Escherichia coli (strain B / BL21) 13 16 direct interaction direct interaction Alanine substitutions that reduce the binding to less than 30% of the wild type emerin are classified as hotspots. Among these the ser54pro and deletion95-99 have been observed in patient affected by EDMD. Other substitutions that affect slightly the binding are reported as mutations. Emerin mutations ser54phe, deletion95-99 and pro183his are observed in patient affected by Emery-Dreifuss Muscular Dystrophy. emd-bclaf1-3 1 4 unspecified role unspecified role prey prey 35s radiolabel tag tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain in vitro In vitro 5 unspecified role unspecified role bait bait region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain P50402:p.Ser54Phe disease-causing mutation mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain S F Wed May 02 14:39:40 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ser54phe' Tue Jun 30 16:17:59 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ser54Phe' undefined mutation disease-causing mutation mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain Wed Jul 06 16:46:31 BST 2016 Sequence change details about this feature cannot be ascertained or do not fit with the current version of the referenced protein, so they have been deleted as a result of our quality control procedures. The original label was 'deletion' P50402:p.Pro183His disease-causing mutation mutation mutation certain certain sequence position certain certain certain sequence position certain P H Wed May 02 18:08:37 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro183his' Tue Jun 30 19:04:38 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro183His' ecobb Escherichia coli (strain B / BL21) 38 40 physical association physical association The emerin mutations have been observed in patient affected by Emery-Dreifuss Muscular Dystrophy. Only the ser54pro and deletion95-99O strongly affect this interaction.