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/ A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. Molecular vision 2015 imex curation Hulleman JD., Nguyen A., Ramprasad VL., Murugan S., Gupta R., Mahindrakar A., Angara R., Sankurathri C., Mootha VV. Vinod.Mootha@UTSouthwestern.edu 25-Jul-2019: 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 Hulleman JD., Nguyen A., Ramprasad VL., Murugan S., Gupta R., Mahindrakar A., Angara R., Sankurathri C., Mootha VV. Vinod.Mootha@UTSouthwestern.edu Accepted 2019-MAY-23 AT 10:50 BST AT 10:50 BST by LIVIAP Molecular vision 2015 Only protein-protein interactions imex curation imex curation A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. Molecular vision 2015 imex curation Hulleman JD., Nguyen A., Ramprasad VL., Murugan S., Gupta R., Mahindrakar A., Angara R., Sankurathri C., Mootha VV. Vinod.Mootha@UTSouthwestern.edu 25-Jul-2019: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-arpe_19 Homo sapiens retinal pigment epithelial cell line ARPE-19 arpe_19 Human retinal pigment epithelial cells ARPE-19 The ATCC reference is CRL-2302. ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident. The cells were subjected to selective trypsinization for the first four passages to remove superficial cells before passaging the cuboidal basal layer. By passage 5, the cultures appeared to be rapidly growing RPE cells, which would form cobblestone monolayers, which pigmented after several months in culture. The line was established in a 1:1 mixture of Dulbecco's modified Eagles medium and Ham's F12 medium with HEPES buffer containing 20% fetal bovine serum, 56 mM final concentration sodium bicarbonate and 2 mM L-glutamine and incubated at 37C in 10% CO2. These cells form stable monolayers, which exhibit morphological and functional polarity. ARPE-19 expresses the RPE-specific markers CRALBP and RPE-65. The cells exhibit morphological polarization when plated on laminin-coated Transwell-COL filters in medium with a low serum concentration. They form tight-junctions with transepithelial resistance of monolayers reaching a maximum of 50 to 100 ohms/cm2 after 4 weeks of culture. The cells are diploid and can be carried for over 30 passages. Progeny were found to undergo an additional 48 population doublings in longevity trials performed during characterization at ATCC. anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Hulleman JD., Nguyen A., Ramprasad VL., Murugan S., Gupta R., Mahindrakar A., Angara R., Sankurathri C., Mootha VV. Vinod.Mootha@UTSouthwestern.edu Accepted 2019-MAY-23 AT 10:50 BST AT 10:50 BST by LIVIAP Molecular vision 2015 Only protein-protein interactions imex curation imex curation mkks_human McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin Bardet-Biedl syndrome 6 protein MKKS BBS6 protein protein human Homo sapiens Human MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTSKPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVIEDKN DIP protein Q9NPJ1 original sequence version: 122 DIP protein Q9NPJ1 original sequence version: 95 14BA57FF8AEA0AF7 bbs12_human Bardet-Biedl syndrome 12 protein BBS12 C4orf24 protein protein human Homo sapiens Human MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESLDLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGLNFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVASQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRTDNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQQGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIEGDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSERLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLDVVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGGAVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLSTLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL DIP protein Q6ZW61 original sequence version: 58 F441A12526A23B40 bbs12-mkks-2 1 4 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 3 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell 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 Q9NPJ1:p.His395Arg mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain H R Tue Jun 30 19:49:17 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.His395Arg' Q9NPJ1:p.Leu277Pro mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain L P Tue Jun 30 19:18:13 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu277Pro' Q9NPJ1:p.Thr57Ala mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain T A Tue Jun 30 17:11:21 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Thr57Ala' physical association physical association Figure 4a bbs12-mkks-3 2 4 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 3 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell 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 Q9NPJ1:p.His395Arg mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain H R Tue Jun 30 18:47:09 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.His395Arg' Q9NPJ1:p.Leu277Pro mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain L P Tue Jun 30 18:14:22 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu277Pro' Q9NPJ1:p.Thr57Ala mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain T A Tue Jun 30 19:55:19 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Thr57Ala' physical association physical association Figure 4b