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/ CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. American journal of human genetics 2015 imex curation Strauss KA., Jinks RN., Puffenberger EG., Venkatesh S., Singh K., Cheng I., Mikita N., Thilagavathi J., Lee J., Sarafianos S., Benkert A., Koehler A., Zhu A., Trovillion V., McGlincy M., Morlet T., Deardorff M., Innes AM., Prasad C., Chudley AE., Lee IN., Suzuki CK. Rare diseases - Interactions investigated in the context of Rare genetic disease kstrauss@clinicforspecialchildren.org 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro protease assay protease assay western blot western blot Immuno blot Immuno blot Strauss KA., Jinks RN., Puffenberger EG., Venkatesh S., Singh K., Cheng I., Mikita N., Thilagavathi J., Lee J., Sarafianos S., Benkert A., Koehler A., Zhu A., Trovillion V., McGlincy M., Morlet T., Deardorff M., Innes AM., Prasad C., Chudley AE., Lee IN., Suzuki CK. Rare diseases - Interactions investigated in the context of Rare genetic disease Recombinant TFAM construct was found to be of human origin (23201127) Recombinant StAR construct was found to be of mouse origin (15870080) kstrauss@clinicforspecialchildren.org Accepted 2020-APR-28 AT 07:34 BST AT 07:34 BST by ORCHARD American journal of human genetics 2015 Only protein-protein interactions imex curation imex curation CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. American journal of human genetics 2015 imex curation Strauss KA., Jinks RN., Puffenberger EG., Venkatesh S., Singh K., Cheng I., Mikita N., Thilagavathi J., Lee J., Sarafianos S., Benkert A., Koehler A., Zhu A., Trovillion V., McGlincy M., Morlet T., Deardorff M., Innes AM., Prasad C., Chudley AE., Lee IN., Suzuki CK. Rare diseases - Interactions investigated in the context of Rare genetic disease kstrauss@clinicforspecialchildren.org 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro protease assay protease assay tag fluorescence tag visualisation by fluorescence tag fluorescence Strauss KA., Jinks RN., Puffenberger EG., Venkatesh S., Singh K., Cheng I., Mikita N., Thilagavathi J., Lee J., Sarafianos S., Benkert A., Koehler A., Zhu A., Trovillion V., McGlincy M., Morlet T., Deardorff M., Innes AM., Prasad C., Chudley AE., Lee IN., Suzuki CK. Rare diseases - Interactions investigated in the context of Rare genetic disease Sorry, i realised Fig 4a had to be separate interaction as the participant det. method is not same as rest of protease assay Substrate is a mix of 10% fluorescently labeled peptide and 90% non-fluorescent analog of the peptide S2 peptide RGITCSGRQK contains an anthranilamide fluorescent donor at the carboxy terminus and a nitrotyrosine quencher at the amino terminus. Upon cleavage of the peptide at Cys-Ser, the donor and quencher separate and an increase in fluorescence emission can be monitored over time (PMID: 21520912). kstrauss@clinicforspecialchildren.org Accepted 2020-APR-28 AT 07:34 BST AT 07:34 BST by ORCHARD American journal of human genetics 2015 Only protein-protein interactions imex curation imex curation CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. American journal of human genetics 2015 imex curation Strauss KA., Jinks RN., Puffenberger EG., Venkatesh S., Singh K., Cheng I., Mikita N., Thilagavathi J., Lee J., Sarafianos S., Benkert A., Koehler A., Zhu A., Trovillion V., McGlincy M., Morlet T., Deardorff M., Innes AM., Prasad C., Chudley AE., Lee IN., Suzuki CK. Rare diseases - Interactions investigated in the context of Rare genetic disease kstrauss@clinicforspecialchildren.org 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-293t Homo sapiens 293 cells transformed with SV40 large T antigen 293t 293 cells expressing SV40 large T antigen. The original designation of this cell line was 293tsA1609neo. It is not in Cabri,ATCC or HyperCLDB. anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Strauss KA., Jinks RN., Puffenberger EG., Venkatesh S., Singh K., Cheng I., Mikita N., Thilagavathi J., Lee J., Sarafianos S., Benkert A., Koehler A., Zhu A., Trovillion V., McGlincy M., Morlet T., Deardorff M., Innes AM., Prasad C., Chudley AE., Lee IN., Suzuki CK. Rare diseases - Interactions investigated in the context of Rare genetic disease kstrauss@clinicforspecialchildren.org Accepted 2020-APR-28 AT 07:34 BST AT 07:34 BST by ORCHARD American journal of human genetics 2015 Only protein-protein interactions imex curation imex curation p36776-1 Lon protease homolog, mitochondrial LONP1 PRSS15 LONHs Lon protease-like protein Mitochondrial ATP-dependent protease Lon Serine protease 15 protein protein human Homo sapiens Human MAASTGYVRLWGAARCWVLRRPMLAAAGGRVPTAAGAWLLRGQRTCDASPPWALWGRGPAIGGQWRGFWEASSRGGGAFSGGEDASEGGAEEGAGGAGGSAGAGEGPVITALTPMTIPDVFPHLPLIAITRNPVFPRFIKIIEVKNKKLVELLRRKVRLAQPYVGVFLKRDDSNESDVVESLDEIYHTGTFAQIHEMQDLGDKLRMIVMGHRRVHISRQLEVEPEEPEAENKHKPRRKSKRGKKEAEDELSARHPAELAMEPTPELPAEVLMVEVENVVHEDFQVTEEVKALTAEIVKTIRDIIALNPLYRESVLQMMQAGQRVVDNPIYLSDMGAALTGAESHELQDVLEETNIPKRLYKALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQLKIIKKELGLEKDDKDAIEEKFRERLKELVVPKHVMDVVDEELSKLGLLDNHSSEFNVTRNYLDWLTSIPWGKYSNENLDLARAQAVLEEDHYGMEDVKKRILEFIAVSQLRGSTQGKILCFYGPPGVGKTSIARSIARALNREYFRFSVGGMTDVAEIKGHRRTYVGAMPGKIIQCLKKTKTENPLILIDEVDKIGRGYQGDPSSALLELLDPEQNANFLDHYLDVPVDLSKVLFICTANVTDTIPEPLRDRMEMINVSGYVAQEKLAIAERYLVPQARALCGLDESKAKLSSDVLTLLIKQYCRESGVRNLQKQVEKVLRKSAYKIVSGEAESVEVTPENLQDFVGKPVFTVERMYDVTPPGVVMGLAWTAMGGSTLFVETSLRRPQDKDAKGDKDGSLEVTGQLGEVMKESARIAYTFARAFLMQHAPANDYLVTSHIHLHVPEGATPKDGPSAGCTIVTALLSLAMGRPVRQNLAMTGEVSLTGKILPVGGIKEKTIAAKRAGVTCIVLPAENKKDFYDLAAFITEGLEVHFVEHYREIFDIAFPDEQAEALAVER B5E03D9C27C220FF s2 peptide peptide peptide polypeptide oligopeptide oligopeptide polypeptide chemical synthesis Chemical synthesis (Chemical synthesis) YRGITCSGRQK star_mouse Steroidogenic acute regulatory protein, mitochondrial Star Luteinizing hormone-induced protein START domain-containing protein 1 protein protein mouse Mus musculus Mouse MFLATFKLCAGSSYRHMRNMKGLRHQAVLAIGQELNWRALGDSSPGWMGQVRRRSSLLGSQLEATLYSDQELSYIQQGEVAMQKALGILNNQEGWKKESQQENGDEVLSKMVPDVGKVFRLEVVVDQPMDRLYEELVDRMEAMGEWNPNVKEIKVLQRIGKDTVITHELAAAAAGNLVGPRDFVSVRCTKRRGSTCVLAGMATHFGEMPEQSGVIRAEHGPTCMVLHPLAGSPSKTKLTWLLSIDLKGWLPKTIINQVLSQTQIEFANHLRKRLEASPASEAQC 9BB13E52D4439B72 tfam_human Transcription factor A, mitochondrial TCF6 Mitochondrial transcription factor 1 Transcription factor 6-like 2 TFAM TCF6L2 Transcription factor 6 protein protein human Homo sapiens Human MAFLRSMWGVLSALGRSGAELCTGCGSRLRSPFSFVYLPRWFSSVLASCPKKPVSSYLRFSKEQLPIFKAQNPDAKTTELIRRIAQRWRELPDSKKKIYQDAYRAEWQVYKEEISRFKEQLTPSQIMSLEKEIMDKHLKRKAMTKKKELTLLGKPKRPRSAYNVYVAERFQEAKGDSPQEKLKTVKENWKNLSDSEKELYIQHAKEDETRYHNEMKSWEEQMIEVGRKDLLRRTIKKQRKYGAEEC 81F00CFA12DA4924 lonp1-lonp1-1 3 4 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 P36776-1:p.Arg721Gly 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 G Tue Jun 30 19:08:18 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg721Gly' 4 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 physical association physical association 4e lonp1-lonp1-2 3 4 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 4 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 P36776-1:p.Arg721Gly mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R G Tue Jun 30 16:38:29 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg721Gly' physical association physical association 4e lonp1-lonp1-3 3 4 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 P36776-1:p.Arg721Gly mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R G Tue Jun 30 18:22:14 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg721Gly' 4 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 P36776-1:p.Arg721Gly mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R G Tue Mar 31 10:37:17 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg721Gly' Tue Jun 30 18:56:09 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg721Gly' physical association physical association 4e Co-immunoprecipitation of p.Arg721-Gly V5 by p.Arg721Gly FLAG was barely detected, suggesting impaired homo-oligomeric assembly of p.Arg721Gly or disassembly of an unstable complex during the experimental procedure. lonp1-s2 peptide-1 2 4 enzyme enzyme neutral component neutral component purified purified region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain n-terminal region his tag his tag Hexa-His-tag 6-His-tag Histidine-tag Hexa-His-tag Histidine-tag 6-His-tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range P36776-1:p.Arg721Gly mutation decreasing rate mutation decreasing interaction rate mutation decreasing rate certain certain sequence position certain certain certain sequence position certain R G Tue Jun 30 16:25:43 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg721Gly' P36776-1:p.Ser631Tyr mutation decreasing rate mutation decreasing interaction rate mutation decreasing rate certain certain sequence position certain certain certain sequence position certain S Y Tue Jun 30 19:46:58 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ser631Tyr' P36776-1:p.Pro676Ser mutation decreasing rate mutation decreasing interaction rate mutation decreasing rate certain certain sequence position certain certain certain sequence position certain P S Tue Jun 30 20:10:09 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro676Ser' P36776-1:p.Ala724Val mutation decreasing rate mutation decreasing interaction rate mutation decreasing rate certain certain sequence position certain certain certain sequence position certain A V Tue Jun 30 15:47:49 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ala724Val' ecoli Escherichia coli (strain K12) 5 enzyme target enzyme target substrate substrate neutral component neutral component purified purified c-terminus fluorophore fluorophore c-term range C-terminal range c-term range c-term range C-terminal range c-term range chemical synthesis Chemical synthesis (Chemical synthesis) protein cleavage protein cleavage 4a lonp1-star-1 1 6 enzyme target enzyme target substrate substrate neutral component neutral component purified purified ecoli Escherichia coli (strain K12) 4 enzyme enzyme neutral component neutral component purified purified n-terminal region his tag his tag Hexa-His-tag 6-His-tag Histidine-tag Hexa-His-tag Histidine-tag 6-His-tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range P36776-1:p.Pro676Ser mutation decreasing rate mutation decreasing interaction rate mutation decreasing rate certain certain sequence position certain certain certain sequence position certain P S Tue Jun 30 19:31:56 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro676Ser' P36776-1:p.Arg721Gly mutation decreasing rate mutation decreasing interaction rate mutation decreasing rate certain certain sequence position certain certain certain sequence position certain R G Tue Jun 30 18:40:19 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg721Gly' region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain ecoli Escherichia coli (strain K12) protein cleavage protein cleavage 4b, S1a lonp1-tfam-1 1 7 enzyme target enzyme target substrate substrate neutral component neutral component purified purified n-terminal region his tag his tag Hexa-His-tag 6-His-tag Histidine-tag Hexa-His-tag Histidine-tag 6-His-tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range ecoli Escherichia coli (strain K12) 4 enzyme enzyme neutral component neutral component purified purified n-terminal region his tag his tag Hexa-His-tag 6-His-tag Histidine-tag Hexa-His-tag Histidine-tag 6-His-tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range P36776-1:p.Pro676Ser 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 P S Tue Jun 30 17:12:40 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro676Ser' P36776-1:p.Arg721Gly 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 G Tue Jun 30 18:22:01 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg721Gly' region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain ecoli Escherichia coli (strain K12) protein cleavage protein cleavage 4b, S1b, S1c There is discrepancy on the positioning of the His tag in TRAM and LONP1 between the methods and in the figure S1 legend; n-terminal position has been adopted after checking for the LONP1 vector (proEx-1) and also checking back referenced 23201127