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/ http://www.ebi.ac.uk/ vesa-2002-1 chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 anti bait coip anti bait coimmunoprecipitation anti bait coip western blot western blot Immuno blot Immuno blot Vesa J., Chin MH., Oelgeschläger K., Isosomppi J., DellAngelica EC., Jalanko A., Peltonen L. Rare diseases - Interactions investigated in the context of Rare genetic disease The authors have followed Genbank AAC27614.1 CLN5 protein sequence (pmid 9662406). The amino acid numbering for the mutation was were remapped to Uniprot accession O75503 - SWE E253X = p.Trp175Leufs*30; Fin M Y343X = p.Tyr392*; EUR D279N = p.Asp230Asn; Fin m W75X = p.Trp26* SWE mutation was found to be a frameshift mutation (insertion of C at 1961 - Isosomppi et al., 2002 PMID:11971870), translating to p.Trp175Leufs*30 CLN5 and CLN3 constructs were found to be of human origin from given references PMID:11971870 and 9384607 respectively lpeltonen@mednet.ucla.edu Molecular biology of the cell 2002 Only protein-protein interactions imex curation imex curation vesa-2002-2 in vitro In vitro pull down pull down autoradiography autoradiography Vesa J., Chin MH., Oelgeschläger K., Isosomppi J., DellAngelica EC., Jalanko A., Peltonen L. Rare diseases - Interactions investigated in the context of Rare genetic disease Origin of CLN2 construct used for in-vitro translation for pull down assay is not available from article; author is not accessible via mail lpeltonen@mednet.ucla.edu Molecular biology of the cell 2002 Only protein-protein interactions imex curation imex curation cln2_chlae protein protein chlae Chlorocebus aethiops Cercopithecus aethiops Grivet Green monkey cln5_human Ceroid-lipofuscinosis neuronal protein 5 CLN5 protein protein human Homo sapiens Human MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL cln3_human Battenin CLN3 BTS Batten disease protein Protein CLN3 protein protein human Homo sapiens Human MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS cln2_chlae-cln5-1 3650534 N/A 3650536 unspecified role unspecified role bait bait physiological level physiological level endogenous level endogenous endogenous endogenous level N/A 3650537 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed O75503:p.Asp230Asn mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain false p.Tyr343* p.Tyr343* required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain false O75503:p.Trp175_Leu358delinsLeuGluGlyLysTrpAspIleSerSerSerSerAsnTyrIleArgLysHisValGlnProAsnGlyLysValGlyGluThrGlyGln NP_006484.2:p.Trp175Leufs*30 mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false Fig. 5a p.Tyr392* (rs386833969) and p.Glu204* are other clinical variants resulting in disruption of interaction - are not annotated here as p.Trp26* serves as the longest required to bind region. cln5-cln3-1 3650534 N/A 3650538 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell N/A 3650537 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell O75503:p.Asp230Asn 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 false p.Trp343* p.Trp343* sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false O75503:p.Trp175_Leu358delinsLeuGluGlyLysTrpAspIleSerSerSerSerAsnTyrIleArgLysHisValGlnProAsnGlyLysValGlyGluThrGlyGln NP_006484.2:p.Trp175Leufs*30 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 false physical association physical association false false false Fig. 5b p.Tyr392* (rs386833969) and p.Glu204* are other clinical variants not showing any change in the strength of interaction - are not annotated here as p.Trp26* serves as the shortest sufficient to bind region. cln3-cln5-1 3650535 N/A 3650538 unspecified role unspecified role prey prey cell lysate cell lysate in vitro translated in vitro translated protein in vitro translated region radiolabelled radiolabel radiolabeled radiolabelled undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false rabit-reticulocyte Oryctolagus cuniculus reticulocyte reticulocyte Reticulocytes N/A 3650537 unspecified role unspecified role bait bait purified purified region gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false ecoli Escherichia coli (strain K12) physical association physical association false false false Fig. 5c