UniProt UniProt http://www.uniprot.org arts-2007-1 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. in vitro In vitro pull down pull down anti tag western anti tag western blot anti tag western Arts H.H., Doherty D., van Beersum S.E., Parisi M.A., Letteboer S.J., Gorden N.T., Peters T.A., Märker T., Voesenek K., Kartono A., Ozyurek H., Farin F.M., Kroes H.Y., Wolfrum U., Brunner H.G., Cremers F.P., Glass I.A., Knoers N.V., Roepman R. RPGRIL1L constructs are based on GenBank BAA76849 which represents a partial sequence of UniProt isoform 2 (Q68CZ1-2) r.roepman@antrg.umcn.nl Nat. Genet. (1061-4036) 2007 Only protein-protein interactions imex curation arts-2007-3 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 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 Arts H.H., Doherty D., van Beersum S.E., Parisi M.A., Letteboer S.J., Gorden N.T., Peters T.A., Märker T., Voesenek K., Kartono A., Ozyurek H., Farin F.M., Kroes H.Y., Wolfrum U., Brunner H.G., Cremers F.P., Glass I.A., Knoers N.V., Roepman R. RPGRIL1L constructs are based on GenBank BAA76849 which represents a partial sequence of UniProt isoform 2 (Q68CZ1-2) r.roepman@antrg.umcn.nl Nat. Genet. (1061-4036) 2007 Only protein-protein interactions imex curation arts-2007-2 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Arts H.H., Doherty D., van Beersum S.E., Parisi M.A., Letteboer S.J., Gorden N.T., Peters T.A., Märker T., Voesenek K., Kartono A., Ozyurek H., Farin F.M., Kroes H.Y., Wolfrum U., Brunner H.G., Cremers F.P., Glass I.A., Knoers N.V., Roepman R. RPGRIL1L constructs are based on GenBank BAA76849 which represents a partial sequence of UniProt isoform 2 (Q68CZ1-2) r.roepman@antrg.umcn.nl Nat. Genet. (1061-4036) 2007 Only protein-protein interactions imex curation arts-2007-4 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 fluorescence imaging fluorescence microscopy fluorescence imaging anti tag immunost anti tag immunostaining anti tag immunost Arts H.H., Doherty D., van Beersum S.E., Parisi M.A., Letteboer S.J., Gorden N.T., Peters T.A., Märker T., Voesenek K., Kartono A., Ozyurek H., Farin F.M., Kroes H.Y., Wolfrum U., Brunner H.G., Cremers F.P., Glass I.A., Knoers N.V., Roepman R. RPGRIL1L constructs are based on GenBank BAA76849 which represents a partial sequence of UniProt isoform 2 (Q68CZ1-2) r.roepman@antrg.umcn.nl Nat. Genet. (1061-4036) 2007 Only protein-protein interactions imex curation arts-2007-5 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. rat-retina Rattus norvegicus retina retinal tissue fluorescence imaging fluorescence microscopy fluorescence imaging immunostaining immunostaining Arts H.H., Doherty D., van Beersum S.E., Parisi M.A., Letteboer S.J., Gorden N.T., Peters T.A., Märker T., Voesenek K., Kartono A., Ozyurek H., Farin F.M., Kroes H.Y., Wolfrum U., Brunner H.G., Cremers F.P., Glass I.A., Knoers N.V., Roepman R. RPGRIL1L constructs are based on GenBank BAA76849 which represents a partial sequence of UniProt isoform 2 (Q68CZ1-2) r.roepman@antrg.umcn.nl Nat. Genet. (1061-4036) 2007 Only protein-protein interactions imex curation arts-2007-6 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. rat-kidney Rat kidney kidney kidney [Renal] fluorescence imaging fluorescence microscopy fluorescence imaging immunostaining immunostaining Arts H.H., Doherty D., van Beersum S.E., Parisi M.A., Letteboer S.J., Gorden N.T., Peters T.A., Märker T., Voesenek K., Kartono A., Ozyurek H., Farin F.M., Kroes H.Y., Wolfrum U., Brunner H.G., Cremers F.P., Glass I.A., Knoers N.V., Roepman R. RPGRIL1L constructs are based on GenBank BAA76849 which represents a partial sequence of UniProt isoform 2 (Q68CZ1-2) r.roepman@antrg.umcn.nl Nat. Genet. (1061-4036) 2007 Only protein-protein interactions imex curation q68cz1-2 Protein fantom RPGRIP1L FTM KIAA1005 NPHP8 Nephrocystin-8 RPGR-interacting protein 1-like protein protein protein human Homo sapiens Human MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDIMPHQSDVSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHVDLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA No experimental confirmation available. nphp4_human Nephrocystin-4 NPHP4 KIAA0673 Nephroretinin protein protein human Homo sapiens Human MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLSLAITTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRDIFLKVASGPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ q32q04_rat Nphp4 protein protein rat Rattus norvegicus (Rat) Rat MGDRQSFQTTCRKKGKESGTSGEWEPEKQRLREDSDVAPRVRQARHSVRAQHSRDLQVIDAYRERTKAENIASVLSQAITTHHTLYATLGTAEFFEFALKNPHNTQHTVAIEIDSPELSIILDSQEWRYFKEATGLLTPLEEDMFHLRGSLAPQLYLRPRETAHIPFKFQNFSVGPPAPTQAPAEVISEKDAESGPHWKCSAMPTKHAKVLFRVETGQLIAVLCLTVEPQPHVVDQVFRFYHPELTFLKKAIRLPPWHTLPGAPVGMPGEDPPVHVRCSDPNVICEAQNVGLGEPRDVFLKVASGPSPEIKDFFVVIYADRWLAVPVQTWQVCLHSLQRVDVSCVAGQMTRLSLVLRGTQTVRKVRAFTSHPQELKTDPAGVFVLPPHGVQDLHVGVRPRRAGSRFIHLNLVDVDYHQLVASWLVCLSCRQPLISKAFEITMAAGEGKGANKRITYTNPYPSRRTYRLHSDRPDLLHFKEDSFQVAGGETYTIGLRFLPSGSAGQEEILIYINDQDDKNEETFCVKVLYQ d3z8g3_rat Rpgrip1l RGD1311099_predicted rCG_44299 protein protein rat Rattus norvegicus (Rat) Rat MSGPSDETAGDLPVKDTGLHLFGIGGLQETSTARTVKARQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELERQNEVLKNRLISAKQQLQVQGHRQTSYSRVQARTNTGRRKASTTAGLQECLGKGIKVQNVDEAETVQPTLTKYSSGLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLKRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSVIEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSVRFSERRVEELQDRINDLEKERELLKENYDKLYNSAFSAAHEEQWKLKEQQMKVQIAQLETALKSDLTDKAEVLDQLKTERDQNEKLVQENRDLQLQCLQQKQQLHELQNRMKFFNQESDINVDDLSEALLLIKAQKEQKNGDLSFLEKVDSKINKDLDRSMKELQATHAETVQELEKTRNMLIMQHKINKDYQMEVETVTQKMENLQQDHELKVEQYVHLLDVRAARIQKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVAFASDVLRASGDKELLTFCTYAFYDFELQTTPIVRGPCPEYNFTSQYLVHVNDLFLQYIQKNTVTLELHQAYSTDYETVAACQLRFHEILEKSGRIFCTTSLVGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKKPEKMQLLSQQAATTAQISSPESTDGNLNELHITVRCCTNLQSRARHLQPHAYVVYKFFDFPDHDTAIIPSSNDPQFDDYMCFPVPMNMDLDRYLKSESLSFYVFDDSDIQENIYIGKVNVPLISLAHDRCISGIFELMDKDKHAAGTIQVILKWKFTYLPPSGSIPTEDLGRFVGREEPEAIQRRPPTSSGTEAVVTPKPKPRQRLTFVDKKVSFVDTMPHPSPEASPPPKDIKHNSPEVGPETENSMPAVACPSKESSVAKVEENMGKTQQGKEDDISFLSEGQLASQSVASSEDETEITEELEPEDEDRSASDSDDCIIPSSVSTDTKKPSEEIRIEIIALSLNDSQITREDTVQRLFIECRFYSLPAEETPMSLPKPKSGQWVYYNYTHVLYLDKENNPAVRDVLKAVLQRRELPHRSVRFTVVSDPPEDEQDLECEDIGVAHLDLVDVFQKGRDIIEQDIDVLDARTDGGSIGKLKVTVEALHALRSVYEQYRKDLEA rpgrip1l-nphp4-1 1534064 n/a 1534070 unspecified role unspecified role bait bait n-terminus gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range false region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false ecoli Escherichia coli (strain K12) n/a 1534071 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection 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 false region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association false false false 2a rpgrip1l-rpgrip1l 1534064 n/a 1534070 unspecified role unspecified role bait bait n-terminus gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range false region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false ecoli Escherichia coli (strain K12) n/a 1534070 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection n-terminus flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged n-term range n-terminal range n-term range n-term range n-terminal range n-term range false region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association false false false 2a nphp4-rpgrip1l-4 1534064 n/a 1534071 unspecified role unspecified role bait bait n-terminus 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 region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false ecoli Escherichia coli (strain K12) n/a 1534070 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false n-terminus flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged n-term range n-terminal range n-term range n-term range n-terminal range n-term range false chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 physical association physical association false false false S1b rpgrip1l-nphp4-2 1534065 n/a 1534070 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 n/a 1534071 unspecified role unspecified role prey prey O75161:p.Gly754Arg mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain false UniProt FTId: VAR_015214 region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false 2c nphp4-rpgrip1l-3 1534065 n/a 1534071 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 n/a 1534070 unspecified role unspecified role prey prey Q68CZ1-2:p.Thr615Pro mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain false UniProt FTId: VAR_039393; dbSNP:rs121918198) region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false S6a rpgrip1l-nphp4-3 1534065 n/a 1534070 unspecified role unspecified role bait bait region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain false Q68CZ1-2:p.Thr615Pro mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain false UniProt FTId: VAR_039393; dbSNP:rs121918198) n/a 1534071 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 physical association physical association false false false S6b nphp4-rpgrip1l-1 1534066 n/a 1534071 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection n-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range false n/a 1534070 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection n-terminus flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged n-term range n-terminal range n-term range n-term range n-terminal range n-term range false region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false 2b nphp4-rpgrip1l-2 1534067 n/a 1534071 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection n_terminal_ecfp_tag egfp tag enhanced green fluorescent protein tag enhanced green fluorescent protein EGFP enhanced green fluorescent protein EGFP egfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range false n/a 1534070 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain false n_terminus rfp tag red fluorescent protein tag red fluorescent protein RFP red fluorescent protein RFP rfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range false colocalization colocalization false false false 3e, Supplement. 2F nphp4-rpgrip1l-5 1534068 n/a 1534072 unspecified role unspecified role neutral component neutral component n/a 1534073 unspecified role unspecified role neutral component neutral component colocalization colocalization false false false Supplement. 5c nphp4-rpgrip1l-6 1534069 n/a 1534073 unspecified role unspecified role neutral component neutral component n/a 1534072 unspecified role unspecified role neutral component neutral component colocalization colocalization false false false 5o Colocalization in renal tubules