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/ Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. Thrombosis and haemostasis 2015 imex curation Asselta R., Platè M., Robusto M., Borhany M., Guella I., Soldà G., Afrasiabi A., Menegatti M., Shamsi T., Peyvandi F., Duga S. Rare diseases - Interactions investigated in the context of Rare genetic disease stefano.duga@unimi.it 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro comig non denat gel comigration in non denaturing gel electrophoresis comig non denat gel autoradiography autoradiography Asselta R., Platè M., Robusto M., Borhany M., Guella I., Soldà G., Afrasiabi A., Menegatti M., Shamsi T., Peyvandi F., Duga S. Rare diseases - Interactions investigated in the context of Rare genetic disease Mutation positions in the manuscript do not take into consideration the signal peptide (aa1-19 in FGA, aa1-30 in FGB and aa1-26 in FGG). Mutation positions were remapped to the Uniprot Sequence accordingly. stefano.duga@unimi.it Accepted 2019-DEC-18 AT 11:32 GMT AT 11:32 GMT by KALPANAP Thrombosis and haemostasis 2015 Only protein-protein interactions imex curation imex curation fibb_human Fibrinogen beta chain FGB protein protein human Homo sapiens Human MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSARGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAATQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQKQVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ DIP protein P02675 original sequence version: 111 DIP protein P02675 original sequence version: 153 DIP protein P02675 original sequence version: 149 DIP protein P02675 original sequence version: 147 B92FFB9976AB53C5 fibg_human Fibrinogen gamma chain FGG PRO2061 protein protein human Homo sapiens Human MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKTSEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQCQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEGFGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFDFGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKTRWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL DIP protein P02679 original sequence version: 118 DIP protein P02679 original sequence version: 155 1787204904E0D4BB fiba_human Fibrinogen alpha chain FGA protein protein human Homo sapiens Human MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPRVVERHQSACKDSDWPFCSDEDWNYKCPSGCRMKGLIDEVNQDFTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSANNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVRAQLVDMKRLEVDIDIKIRSCRGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQLQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSSGPGSTGNRNPGSSGTGGTATWKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTWNPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGSGNARPNNPDWGTFEEVSGNVSPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTKEVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEFVSETESRGSESGIFTNTKESSSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKSYKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHPSGTQSGIFNIKLPGSSKIFSVYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQRGSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSHNNMQFSTFDRDADQWEENCAEVYGGGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENGVVWVSFRGADYSLRAVRMKIRPLVTQ DIP protein P02671 original sequence version: 118 DIP protein P02671-1 original sequence version: 160 DIP protein P02671 original sequence version: 157 EA73A81204D8AEC4 fibrinogen-1 1 3 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined p.Tyr27_Phe41del sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain P02679:p.Asn345Asp mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain N D Tue Jun 30 20:03:49 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn345Asp' P02679:p.Thr303Pro mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain T P Tue Jun 30 20:00:31 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Thr303Pro' P02679:p.[Thr303Pro;Asp327His] mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain T P certain certain sequence position certain certain certain sequence position certain D H Tue Jun 30 15:35:00 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Thr303Pro;Asp327His]' P02679:p.Asp327His 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 D H Tue Jun 30 19:51:45 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asp327His' chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 2 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 4 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association Fig. 2, Fig. S1 fga-fgb-7 1 3 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 2 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined P02675:p.Cys95Arg mutation causing mutation causing an interaction mutation enabling interaction mutation causing mutation causing an interaction certain certain sequence position certain certain certain sequence position certain C R Tue Jun 30 19:25:05 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Cys95Arg' chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 4 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association Fig. 2 fga-fgb-8 1 3 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 2 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 4 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined P02671:p.Cys55Arg mutation causing mutation causing an interaction mutation enabling interaction mutation causing mutation causing an interaction certain certain sequence position certain certain certain sequence position certain C R Tue Jun 30 16:35:02 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Cys55Arg' chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association Fig. 2 fga-fgb-9 1 3 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 2 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 4 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined P02671:p.Arg129Pro 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 R P Tue Jun 30 16:13:34 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg129Pro' P02671:p.Cys55Arg 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 C R Tue Jun 30 19:00:17 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Cys55Arg' P02671:p.Cys184Trp mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain C W Tue Jun 30 15:45:22 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Cys184Trp' chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association Fig. 2 fga-fgb-10 1 3 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 2 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined P02675:p.Thr407Lys mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain T K Tue Jun 30 16:26:05 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Thr407Lys' P02675:p.Cys95Arg 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 C R Tue Jun 30 18:53:38 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Cys95Arg' chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 4 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association Fig. 2 fga-fgb-11 1 3 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined p.Tyr27_Phe41del sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 2 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 4 unspecified role unspecified role neutral component neutral component partially purified partially purified 35s radiolabel 35s radiolabel 35s radiolabel 35S s35 radiolabelled S35 s35 radiolabelled 35S S35 undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association Fig. S1