UniProt UniProt http://www.uniprot.org The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem. (0021-9258) 2013 imex curation 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 18-Sep-2014: Contacted by IntAct-Help. Only 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 Accepted 2014-AUG-07 by ORCHARD J. Biol. Chem. (0021-9258) 2013 imex curation The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem. (0021-9258) 2013 imex curation 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 18-Sep-2014: Contacted by IntAct-Help. Only 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 Accepted 2014-AUG-07 by ORCHARD J. Biol. Chem. (0021-9258) 2013 imex curation The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem. (0021-9258) 2013 imex curation 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 18-Sep-2014: Contacted by IntAct-Help. Only 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 Accepted 2014-AUG-07 by ORCHARD J. Biol. Chem. (0021-9258) 2013 imex curation The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem. (0021-9258) 2013 imex curation 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 18-Sep-2014: Contacted by IntAct-Help. Only 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 Accepted 2014-AUG-07 by ORCHARD J. Biol. Chem. (0021-9258) 2013 imex curation The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem. (0021-9258) 2013 imex curation 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 18-Sep-2014: Contacted by IntAct-Help. Only 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 Accepted 2014-AUG-07 by ORCHARD J. Biol. Chem. (0021-9258) 2013 imex curation hap1_human Huntingtin-associated protein 1 Neuroan 1 HAP1 HLP1 HAP2 protein protein human Homo sapiens Human MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR 10971B807941B4EE ahi1_mouse Jouberin Ahi1 Abelson helper integration site 1 protein protein protein mouse Mus musculus Mouse MEPETPEKVDSAQEKVRGKTPTADDSDDSREKTGIEEKGELTDAYQLQVAEEMAKEIKKKIRKKLKEQLTYFPPDTLLHDDKLASEKRKKKKKKVPVPTKPESSPSDVCDSAVEGEQKKEGTPEDSQHMEGICSREQDVDATVPENAKPKPKKTKKKTKAVSNDNEDTNGDGVHEITSRDSPVHPKCLLDDDLVMGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSERPVSSYYEKDNVDYILPIMTQPYDFKKLKSRLPEWEEQVIFNENFPYLLREFEECPKVILFFEILDFLSMDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSQLNVVEVFEWWSKCPRNRYPSTLYVTVRGLKVPDCIKPSYRSMMALQEERGTPVYCERHRETSSVDTEPGLEDSKEEVKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDLDWSKDDRYLVTSSSDGTARVWKNEINSTSTFRVLPHPSFVYTAKFHPATRELVVTGCYDSMIRIWKIDAREDAAILVRQLDVHKSFVNSICFDDEGHHMYSGDCIGVIVVWDTYVKVNDVQTSVRHWTINKEIKETEFRGVPISYLEVHPNGKRLLIHTKDSTLRIMDLRILAARKFVGAANYREKIHSTLTPCGTLLFSGSEDGIVYVWNPETGEQVAMYSDLPFKSTIRDISYHPLENMVAFCAFGQSEPILLYIYDFQVAQQEAEMLKRYSGTLPLPGIHQSEDALCTCPKLPQQGSFQIDEFVNTENSSSRKIQLVKQRLETVTEVIRSCAAKVNKNLSMTSPPPGPAKKPRVKQSFVLTTDEIIHQFGLPQTAFISIERGPFVRHVDPPPMVVALYDYTASRSDELTIHRGDIIRVYFKDNEDWWYGSVRKGQEGFFPANHVASETLYRDSPPKVKERSPPLTPKEKTKPEKPLASQKQSLSKGRPLDPRLGPQPVGHSEKGKDQNVEDRGHKVDMETKKSEPVVRKVTLIE 91908C847218D4C0 hap1_mouse Huntingtin-associated protein 1 Hap1 protein protein mouse Mus musculus Mouse MRPKEQVQSGAGDGTGSGDPAAGTPTTQPAVGPAPEPSAEPKPAPAQGTGSGQKSGSRTKTGSFCRSMIIGDSDAPWTRYVFQGPYGPRATGLGTGKAEGIWKTPAAYIGRRPGVSGPERAAFIRELQEALCPNPPPTKKITEDDVKVMLYLLEEKERDLNTAARIGQSLVKQNSVLMEENNKLETMLGSAREEILHLRKQVNLRDDLLQLYSDSDDDDDEEDEEDEEEGEEEEREGQRDQDQQHDHPYGAPKPHPKAETAHRCPQLETLQQKLRLLEEENDHLREEASHLDNLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLEGYERQQKEITQLQAEITKLQQRCQSYGAQTEKLQQMLASEKGIHSESLRAGSYMQDYGSRPRDRQEDGKSHRQRSSMPAGSVTHYGYSVPLDALPSFPETLAEELRTSLRKFITDPAYFMERRDTHCREGRKKEQRAMPPPPAQDLKPPEDFEAPEELVPEEELGAIEEVGTAEDGQAEENEQASEETEAWEEVEPEVDETTRMNVVVSALEASGLGPSHLDMKYVLQQLSNWQDAHSKRQQKQKVVPKDSPTPQQQTNMGGGILEQQPRVPTQDSQRLEEDRATHSPSAREEEGPSGAT DIP protein O35668 original sequence version: 96 DIP protein O35668 original sequence version: 77 AF516F61D6AB7CCB nphp1_human Nephrocystin-1 Juvenile nephronophthisis 1 protein NPHP1 NPH1 protein protein human Homo sapiens Human MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV 270125F56F2C50F7 ahi1_human Jouberin Abelson helper integration site 1 protein homolog AHI1 protein protein human Homo sapiens Human MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSNMLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSPAPQKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE 16A237C915DABF0F ahi1-nphp1 3 9 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 10 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 AHI1 val443asp also interacted physical association physical association 3A ahi1-nphp1-2 1 10 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 Q8N157:p.Val443Asp mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain V D Wed May 02 16:05:14 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'val443asp' Tue Jun 30 18:22:56 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Val443Asp' UniProt FTId: VAR_023391; involved in JBTS3 9 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 physical association physical association 3B ahi1-nphp1-3 1 9 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 10 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 Q8N157:p.Val443Asp mutation mutation certain certain sequence position certain certain certain sequence position certain V D Wed May 02 19:08:58 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'val443asp' Tue Jun 30 15:55:46 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Val443Asp' UniProt FTId: VAR_023391; involved in JBTS3 physical association physical association 3B ahi1-hap1-1 5 8 unspecified role unspecified role prey prey 7 unspecified role unspecified role bait bait physical association physical association 6 ahi1-hap1-2 4 10 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 Q8N157:p.Val443Asp mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain V D Wed May 02 17:54:34 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'val443asp' Tue Jun 30 19:15:47 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Val443Asp' UniProt FTId: VAR_023391; involved in JBTS3 6 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 33 36 physical association physical association 7C and D, 13B ahi1-nphp1-4 2 10 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 region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain AHI1 val443asp also interacted 9 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 physical association physical association 7E-G hap1-ahi1-1 3 6 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 10 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 region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain AHI1 val443asp also interacted physical association physical association 13C and D ahi1-hap1-3 1 6 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 10 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 physical association physical association 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-ahi1 3 10 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 10 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 AHI1 val443asp also interacted physical association physical association 14 ahi1-hap1-4 1 10 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 physical association physical association 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.