UniProt UniProt http://www.uniprot.org tuz-2013-3 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. molecular sieving molecular sieving Gel Filtration Size Exclusion Chromatography Size Exclusion Chromatography Gel Filtration Sizing column anti tag western anti tag western blot anti tag western Tuz K., Hsiao Y.C., Juárez O., Shi B., Harmon E.Y., Phelps I.G., Lennartz M.R., Glass I.A., Doherty D., Ferland R.J. Neurodegeneration - Publications depicting interactions involved in neurodegenerative diseases. ferlanr@mail.amc.edu J. Biol. Chem. (0021-9258) 2013 imex curation Only protein-protein interactions tuz-2013-2 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Tuz K., Hsiao Y.C., Juárez O., Shi B., Harmon E.Y., Phelps I.G., Lennartz M.R., Glass I.A., Doherty D., Ferland R.J. Neurodegeneration - Publications depicting interactions involved in neurodegenerative diseases. ferlanr@mail.amc.edu J. Biol. Chem. (0021-9258) 2013 imex curation Only protein-protein interactions tuz-2013-4 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. mouse-brain Mus musculus brain brain Brain [cerebrum] anti bait coip anti bait coimmunoprecipitation anti bait coip western blot western blot Immuno blot Immuno blot Tuz K., Hsiao Y.C., Juárez O., Shi B., Harmon E.Y., Phelps I.G., Lennartz M.R., Glass I.A., Doherty D., Ferland R.J. Neurodegeneration - Publications depicting interactions involved in neurodegenerative diseases. ferlanr@mail.amc.edu J. Biol. Chem. (0021-9258) 2013 imex curation Only protein-protein interactions tuz-2013-5 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. yeasx Saccharomyces cerevisiae (Baker's yeast) Baker's yeast 2 hybrid two hybrid 2H 2h Gal4 transcription regeneration two-hybrid yeast two hybrid 2-hybrid classical two hybrid classical two hybrid 2H two-hybrid 2-hybrid Gal4 transcription regeneration 2h yeast two hybrid Y2H Y-2H 2 hybrid predetermined predetermined participant predetermined Tuz K., Hsiao Y.C., Juárez O., Shi B., Harmon E.Y., Phelps I.G., Lennartz M.R., Glass I.A., Doherty D., Ferland R.J. Neurodegeneration - Publications depicting interactions involved in neurodegenerative diseases. ferlanr@mail.amc.edu J. Biol. Chem. (0021-9258) 2013 imex curation Only protein-protein interactions tuz-2013-6 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 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 Tuz K., Hsiao Y.C., Juárez O., Shi B., Harmon E.Y., Phelps I.G., Lennartz M.R., Glass I.A., Doherty D., Ferland R.J. Neurodegeneration - Publications depicting interactions involved in neurodegenerative diseases. ferlanr@mail.amc.edu J. Biol. Chem. (0021-9258) 2013 imex curation Only protein-protein interactions ahi1_human Jouberin Abelson helper integration site 1 protein homolog AHI1 protein protein human Homo sapiens Human MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSNMLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSPAPQKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE nphp1_human Nephrocystin-1 Juvenile nephronophthisis 1 protein NPHP1 NPH1 protein protein human Homo sapiens Human MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV hap1_human Huntingtin-associated protein 1 Neuroan 1 HAP1 HLP1 HAP2 protein protein human Homo sapiens Human MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR hap1_mouse Huntingtin-associated protein 1 Hap1 protein protein mouse Mus musculus Mouse MRPKEQVQSGAGDGTGSGDPAAGTPTTQPAVGPAPEPSAEPKPAPAQGTGSGQKSGSRTKTGSFCRSMIIGDSDAPWTRYVFQGPYGPRATGLGTGKAEGIWKTPAAYIGRRPGVSGPERAAFIRELQEALCPNPPPTKKITEDDVKVMLYLLEEKERDLNTAARIGQSLVKQNSVLMEENNKLETMLGSAREEILHLRKQVNLRDDLLQLYSDSDDDDDEEDEEDEEEGEEEEREGQRDQDQQHDHPYGAPKPHPKAETAHRCPQLETLQQKLRLLEEENDHLREEASHLDNLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLEGYERQQKEITQLQAEITKLQQRCQSYGAQTEKLQQMLASEKGIHSESLRAGSYMQDYGSRPRDRQEDGKSHRQRSSMPAGSVTHYGYSVPLDALPSFPETLAEELRTSLRKFITDPAYFMERRDTHCREGRKKEQRAMPPPPAQDLKPPEDFEAPEELVPEEELGAIEEVGTAEDGQAEENEQASEETEAWEEVEPEVDETTRMNVVVSALEASGLGPSHLDMKYVLQQLSNWQDAHSKRQQKQKVVPKDSPTPQQQTNMGGGILEQQPRVPTQDSQRLEEDRATHSPSAREEEGPSGAT ahi1_mouse Jouberin Ahi1 Abelson helper integration site 1 protein protein protein mouse Mus musculus Mouse MEPETPEKVDSAQEKVRGKTPTADDSDDSREKTGIEEKGELTDAYQLQVAEEMAKEIKKKIRKKLKEQLTYFPPDTLLHDDKLASEKRKKKKKKVPVPTKPESSPSDVCDSAVEGEQKKEGTPEDSQHMEGICSREQDVDATVPENAKPKPKKTKKKTKAVSNDNEDTNGDGVHEITSRDSPVHPKCLLDDDLVMGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSERPVSSYYEKDNVDYILPIMTQPYDFKKLKSRLPEWEEQVIFNENFPYLLREFEECPKVILFFEILDFLSMDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSQLNVVEVFEWWSKCPRNRYPSTLYVTVRGLKVPDCIKPSYRSMMALQEERGTPVYCERHRETSSVDTEPGLEDSKEEVKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDLDWSKDDRYLVTSSSDGTARVWKNEINSTSTFRVLPHPSFVYTAKFHPATRELVVTGCYDSMIRIWKIDAREDAAILVRQLDVHKSFVNSICFDDEGHHMYSGDCIGVIVVWDTYVKVNDVQTSVRHWTINKEIKETEFRGVPISYLEVHPNGKRLLIHTKDSTLRIMDLRILAARKFVGAANYREKIHSTLTPCGTLLFSGSEDGIVYVWNPETGEQVAMYSDLPFKSTIRDISYHPLENMVAFCAFGQSEPILLYIYDFQVAQQEAEMLKRYSGTLPLPGIHQSEDALCTCPKLPQQGSFQIDEFVNTENSSSRKIQLVKQRLETVTEVIRSCAAKVNKNLSMTSPPPGPAKKPRVKQSFVLTTDEIIHQFGLPQTAFISIERGPFVRHVDPPPMVVALYDYTASRSDELTIHRGDIIRVYFKDNEDWWYGSVRKGQEGFFPANHVASETLYRDSPPKVKERSPPLTPKEKTKPEKPLASQKQSLSKGRPLDPRLGPQPVGHSEKGKDQNVEDRGHKVDMETKKSEPVVRKVTLIE ahi1-nphp1-2 1559575 n/a 1559580 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Q8N157:p.Val443Asp mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain false UniProt FTId: VAR_023391; involved in JBTS3 Stoichiometry: 2.0 n/a 1559581 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Stoichiometry: 2.0 physical association physical association false false false 3B ahi1-nphp1-3 1559575 n/a 1559581 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Stoichiometry: 1.0 n/a 1559580 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Q8N157:p.Val443Asp mutation mutation certain certain sequence position certain certain certain sequence position certain false UniProt FTId: VAR_023391; involved in JBTS3 Stoichiometry: 1.0 physical association physical association false false false 3B ahi1-hap1-3 1559575 n/a 1559582 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Stoichiometry: 2.0 n/a 1559580 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Stoichiometry: 2.0 physical association physical association false false false 13E and F Transfection of AHI1 val443asp lead to a HAP1 hexamer next to the AHI1:HAP1 tetramer indicative that the association of HAP1 and AHI1 is disturbed. ahi1-hap1-4 1559575 n/a 1559580 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Stoichiometry: 2.0 physical association physical association false false false 13E The molecular weight of the peak is smaller than the expected weight of the homodimer but self-association has also been shown by CoIP. ahi1-nphp1 1559576 n/a 1559581 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection region ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false n/a 1559580 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false AHI1 val443asp also interacted physical association physical association false false false 3A hap1-ahi1-1 1559576 n/a 1559582 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false n/a 1559580 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection region ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false AHI1 val443asp also interacted physical association physical association false false false 13C and D ahi1-ahi1 1559576 n/a 1559580 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection c-terminus gfp tag green fluorescent protein tag GFP green fluorescent protein GFP green fluorescent protein gfp tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range false n/a 1559580 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false AHI1 val443asp also interacted physical association physical association false false false 14 ahi1-hap1-1 1559577 n/a 1559583 unspecified role unspecified role prey prey n/a 1559584 unspecified role unspecified role bait bait physical association physical association false false false 6 ahi1-hap1-2 1559578 n/a 1559580 unspecified role unspecified role bait bait region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false Q8N157:p.Val443Asp mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain false UniProt FTId: VAR_023391; involved in JBTS3 n/a 1559582 unspecified role unspecified role prey prey region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false 1559629 1559626 physical association physical association false false false 7C and D, 13B ahi1-nphp1-4 1559579 n/a 1559580 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false AHI1 val443asp also interacted n/a 1559581 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection region ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false physical association physical association false false false 7E-G