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/ Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. The Journal of clinical investigation 2009 imex curation Hayashi YK., Matsuda C., Ogawa M., Goto K., Tominaga K., Mitsuhashi S., Park YE., Nonaka I., Hino-Fukuyo N., Haginoya K., Sugano H., Nishino I. Rare diseases - Interactions investigated in the context of Rare genetic disease hayasi_y@ncnp.go.jp 21-Nov-2019: Contacted by IntAct-Help. Only protein-protein interactions imex curation chlae-cos_7 Cercopithecus aethiops simian cells transformed with SV40 Grivet cos_7 cercopithecus aethiops, by transformation with SV40 anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Hayashi YK., Matsuda C., Ogawa M., Goto K., Tominaga K., Mitsuhashi S., Park YE., Nonaka I., Hino-Fukuyo N., Haginoya K., Sugano H., Nishino I. Rare diseases - Interactions investigated in the context of Rare genetic disease hayasi_y@ncnp.go.jp Accepted 2019-NOV-01 AT 11:58 GMT AT 11:58 GMT by PPORRAS The Journal of clinical investigation 2009 Only protein-protein interactions imex curation imex curation cavn1_human Caveolae-associated protein 1 CAVIN1 Cavin-1 PTRF Polymerase I and transcript release factor FKSG13 protein protein human Homo sapiens Human MEDPTLYIVERPLPGYPDAEAPEPSSAGAQAAEEPSGAGSEELIKSDQVNGVLVLSLLDKIIGAVDQIQLTQAQLEERQAEMEGAVQSIQGELSKLGKAHATTSNTVSKLLEKVRKVSVNVKTVRGSLERQAGQIKKLEVNEAELLRRRNFKVMIYQDEVKLPAKLSISKSLKESEALPEKEGEELGEGERPEEDAAALELSSDEAVEVEEVIEESRAERIKRSGLRRVDDFKKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD DIP protein Q6NZI2 original sequence version: 70 DIP protein Q6NZI2 original sequence version: 100 E37945A9C9E819D4 cav1_human Caveolin-1 CAV1 CAV protein protein human Homo sapiens Human MSGGKYVDSEGHLYTVPIREQGNIYKPNNKAMADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI DIP protein Q03135 original sequence version: 164 DIP protein Q03135 original sequence version: 119 DIP protein Q03135 original sequence version: 122 DIP protein Q03135-1 original sequence version: 122 DIP protein Q03135 original sequence version: 133 DIP protein Q03135 original sequence version: 155 DIP protein Q03135 original sequence version: 147 2424DE9B5E6521D5 cav3_human Caveolin-3 CAV3 M-caveolin protein protein human Homo sapiens Human MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV C695E14F5B8F4753 cav3-cavin1-1 1 4 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell region t7 tag t7 tag MASMTGGQQMG epitope tag MASMTGGQQMG epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 2 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell Q6NZI2:p.Glu176Argfs*99 NP_036364.2:p.Glu176Argfs*99 mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain EALPEKEGEELGEGERPEEDAAALELSSDEAVEVEEVIEESRAERIKRSGLRRVDDFKKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD RRCQRRRARSWARASGPRRTQRRWSFRRTRRWRLRRLLRSPAQSVSSAAACGAWTTSRRPSPRRRWRRPRCVPARTWRRRASRPRKTWRRRGTPWRSA region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined Q6NZI2:p.Lys233Glnfs*192 NP_036364.2:p.Lys233Glnfs*192 mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain KKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD QEGLLQGEDGEDQGAYPREPGEDAPQDQGKPGEDAAHPGEAHEQAGHAPGARRAARETEDVAGQVAQILHARPRGVRALQDRGLQGATLHLPRQEDPRGPGGSAQGHRDGGGGRRRRRGRRGARGGRRPAAREQPRRARAAGDHRGVGRRAGGQERQRLSRPRCHPPHSSLLPNFLFRILSRLELAEIFLN physical association physical association Figure 6c cav1-cavin1-1 1 3 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell region t7 tag t7 tag MASMTGGQQMG epitope tag MASMTGGQQMG epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 2 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell Q6NZI2:p.Glu176Argfs*99 NP_036364.2:p.Glu176Argfs*99 mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain EALPEKEGEELGEGERPEEDAAALELSSDEAVEVEEVIEESRAERIKRSGLRRVDDFKKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD RRCQRRRARSWARASGPRRTQRRWSFRRTRRWRLRRLLRSPAQSVSSAAACGAWTTSRRPSPRRRWRRPRCVPARTWRRRASRPRKTWRRRGTPWRSA region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined Q6NZI2:p.Lys233Glnfs*192 NP_036364.2:p.Lys233Glnfs*192 mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain KKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD QEGLLQGEDGEDQGAYPREPGEDAPQDQGKPGEDAAHPGEAHEQAGHAPGARRAARETEDVAGQVAQILHARPRGVRALQDRGLQGATLHLPRQEDPRGPGGSAQGHRDGGGGRRRRRGRRGARGGRRPAAREQPRRARAAGDHRGVGRRAGGQERQRLSRPRCHPPHSSLLPNFLFRILSRLELAEIFLN physical association physical association Figure 6d cav1-cavin1-2 1 3 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell region t7 tag t7 tag MASMTGGQQMG epitope tag MASMTGGQQMG epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 2 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell Q6NZI2:p.Glu176Argfs*99 NP_036364.2:p.Glu176Argfs*99 mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain EALPEKEGEELGEGERPEEDAAALELSSDEAVEVEEVIEESRAERIKRSGLRRVDDFKKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD RRCQRRRARSWARASGPRRTQRRWSFRRTRRWRLRRLLRSPAQSVSSAAACGAWTTSRRPSPRRRWRRPRCVPARTWRRRASRPRKTWRRRGTPWRSA region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined Q6NZI2:p.Lys233Glnfs*192 NP_036364.2:p.Lys233Glnfs*192 mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain KKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD QEGLLQGEDGEDQGAYPREPGEDAPQDQGKPGEDAAHPGEAHEQAGHAPGARRAARETEDVAGQVAQILHARPRGVRALQDRGLQGATLHLPRQEDPRGPGGSAQGHRDGGGGRRRRRGRRGARGGRRPAAREQPRRARAAGDHRGVGRRAGGQERQRLSRPRCHPPHSSLLPNFLFRILSRLELAEIFLN physical association physical association Figure 6d cav3-cavin1-2 1 4 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell region t7 tag t7 tag MASMTGGQQMG epitope tag MASMTGGQQMG epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 2 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell p.Glu176Argfs*99 NP_036364.2:p.Glu176Argfs*99 mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain EALPEKEGEELGEGERPEEDAAALELSSDEAVEVEEVIEESRAERIKRSGLRRVDDFKKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD RRCQRRRARSWARASGPRRTQRRWSFRRTRRWRLRRLLRSPAQSVSSAAACGAWTTSRRPSPRRRWRRPRCVPARTWRRRASRPRKTWRRRGTPWRSA region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined p.Lys233Glnfs*192 NP_036364.2:p.Lys233Glnfs*192 mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain KKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD QEGLLQGEDGEDQGAYPREPGEDAPQDQGKPGEDAAHPGEAHEQAGHAPGARRAARETEDVAGQVAQILHARPRGVRALQDRGLQGATLHLPRQEDPRGPGGSAQGHRDGGGGRRRRRGRRGARGGRRPAAREQPRRARAAGDHRGVGRRAGGQERQRLSRPRCHPPHSSLLPNFLFRILSRLELAEIFLN physical association physical association Figure 6c