UniProt UniProt http://www.uniprot.org Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. American journal of human genetics 2011 imex curation Hamdan FF., Gauthier J., Araki Y., Lin DT., Yoshizawa Y., Higashi K., Park AR., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., null null., Shekarabi M., Marineau C., Shevell M., Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafrenière RG., Drapeau P., Lacaille JC., Kim E., Lee JR., Igarashi K., Huganir RL., Rouleau GA., Michaud JL. Origin of transfectd GluR1 and GluR2 constructs confirmed by the authors. rhuganir@jhmi.edu 21-10-2015: 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 western blot western blot Immuno blot Immuno blot Hamdan FF., Gauthier J., Araki Y., Lin DT., Yoshizawa Y., Higashi K., Park AR., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., null null., Shekarabi M., Marineau C., Shevell M., Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafrenière RG., Drapeau P., Lacaille JC., Kim E., Lee JR., Igarashi K., Huganir RL., Rouleau GA., Michaud JL. Origin of transfectd GluR1 and GluR2 constructs confirmed by the authors. rhuganir@jhmi.edu Accepted 2015-SEP-01 by MGT American journal of human genetics 2011 imex curation Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. American journal of human genetics 2011 imex curation Hamdan FF., Gauthier J., Araki Y., Lin DT., Yoshizawa Y., Higashi K., Park AR., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., null null., Shekarabi M., Marineau C., Shevell M., Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafrenière RG., Drapeau P., Lacaille JC., Kim E., Lee JR., Igarashi K., Huganir RL., Rouleau GA., Michaud JL. Origin of transfectd GluR1 and GluR2 constructs confirmed by the authors. rhuganir@jhmi.edu 21-10-2015: 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 Hamdan FF., Gauthier J., Araki Y., Lin DT., Yoshizawa Y., Higashi K., Park AR., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., null null., Shekarabi M., Marineau C., Shevell M., Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafrenière RG., Drapeau P., Lacaille JC., Kim E., Lee JR., Igarashi K., Huganir RL., Rouleau GA., Michaud JL. Origin of transfectd GluR1 and GluR2 constructs confirmed by the authors. rhuganir@jhmi.edu Accepted 2015-SEP-01 by MGT American journal of human genetics 2011 imex curation ccg2_rat Voltage-dependent calcium channel gamma-2 subunit Cacng2 Neuronal voltage-gated calcium channel gamma-2 subunit Transmembrane AMPAR regulatory protein gamma-2 Stargazin Stg protein protein rat Rattus norvegicus (Rat) Rat MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTHSGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGLCIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSFYFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSSSRSTEPSHSRDASPVGVKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVHNCIQKDSKDSLHANTANRRTTPV DIP protein Q71RJ2 original sequence version: 44 DIP protein Q71RJ2 original sequence version: 53 mint AA9D475606A0FBA4 gria2_rat Glutamate receptor 2 Gria2 Glur2 GluR-B GluR-K2 Glutamate receptor ionotropic, AMPA 2 AMPA-selective glutamate receptor 2 protein protein rat Rattus norvegicus (Rat) Rat MQKIMHISVLLSPVLWGLIFGVSSNSIQIGGLFPRGADQEYSAFRVGMVQFSTSEFRLTPHIDNLEVANSFAVTNAFCSQFSRGVYAIFGFYDKKSVNTITSFCGTLHVSFITPSFPTDGTHPFVIQMRPDLKGALLSLIEYYQWDKFAYLYDSDRGLSTLQAVLDSAAEKKWQVTAINVGNINNDKKDETYRSLFQDLELKKERRVILDCERDKVNDIVDQVITIGKHVKGYHYIIANLGFTDGDLLKIQFGGANVSGFQIVDYDDSLVSKFIERWSTLEEKEYPGAHTATIKYTSALTYDAVQVMTEAFRNLRKQRIEISRRGNAGDCLANPAVPWGQGVEIERALKQVQVEGLSGNIKFDQNGKRINYTINIMELKTNGPRKIGYWSEVDKMVVTLTELPSGNDTSGLENKTVVVTTILESPYVMMKKNHEMLEGNERYEGYCVDLAAEIAKHCGFKYKLTIVGDGKYGARDADTKIWNGMVGELVYGKADIAIAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHTEEFEDGRETQSSESTNEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDLSKQTEIAYGTLDSGSTKEFFRRSKIAVFDKMWTYMRSAEPSVFVRTTAEGVARVRKSKGKYAYLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGIATPKGSSLGNAVNLAVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKEKTSALSLSNVAGVFYILVGGLGLAMLVALIEFCYKSRAEAKRMKVAKNPQNINPSSSQNSQNFATYKEGYNVYGIESVKI DIP protein P19491 original sequence version: 164 DIP protein P19491 original sequence version: 160 DIP protein P19491 original sequence version: 131 DIP protein P19491 original sequence version: 136 DIP protein P19491 original sequence version: 141 DEFA817027C1CCD1 gria1_rat Glutamate receptor 1 Gria1 GluR-A GluR-K1 Glutamate receptor ionotropic, AMPA 1 AMPA-selective glutamate receptor 1 Glur1 protein protein rat Rattus norvegicus (Rat) Rat MPYIFAFFCTGFLGAVVGANFPNNIQIGGLFPNQQSQEHAAFRFALSQLTEPPKLLPQIDIVNISDSFEMTYRFCSQFSKGVYAIFGFYERRTVNMLTSFCGALHVCFITPSFPVDTSNQFVLQLRPELQEALISIIDHYKWQTFVYIYDADRGLSVLQRVLDTAAEKNWQVTAVNILTTTEEGYRMLFQDLEKKKERLVVVDCESERLNAILGQIVKLEKNGIGYHYILANLGFMDIDLNKFKESGANVTGFQLVNYTDTIPARIMQQWRTSDSRDHTRVDWKRPKYTSALTYDGVKVMAEAFQSLRRQRIDISRRGNAGDCLANPAVPWGQGIDIQRALQQVRFEGLTGNVQFNEKGRRTNYTLHVIEMKHDGIRKIGYWNEDDKFVPAATDAQAGGDNSSVQNRTYIVTTILEDPYVMLKKNANQFEGNDRYEGYCVELAAEIAKHVGYSYRLEIVSDGKYGARDPDTKAWNGMVGELVYGRADVAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHSEEFEEGRDQTTSDQSNEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDLAKQTEIAYGTLEAGSTKEFFRRSKIAVFEKMWTYMKSAEPSVFVRTTEEGMIRVRKSKGKYAYLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGIATPKGSALRNPVNLAVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKDKTSALSLSNVAGVFYILIGGLGLAMLVALIEFCYKSRSESKRMKGFCLIPQQSINEAIRTSTLPRNSGAGASGGGGSGENGRVVSQDFPKSMQSIPCMSHSSGMPLGATGL DIP protein P19490 original sequence version: 146 DIP protein P19490 original sequence version: 142 DIP protein P19490 original sequence version: 117 DIP protein P19490 original sequence version: 127 DIP protein P19490 original sequence version: 131 DIP protein P19490 original sequence version: 129 2D4CFA7CCD532838 e41l1_rat Band 4.1-like protein 1 Epb41l1 Epb4.1l1 Neuronal protein 4.1 Erythrocyte membrane protein band 4.1-like 1 protein protein rat Rattus norvegicus (Rat) Rat MTTETGPDSEVKKAQEETPQQPEAAAAVTTPVTPAGHSHPETNSNEKHLTQQDTRPAEQSLDMEEKDYCEADGLSERTTPSKAQKSPQKIAKKFKSATCRVTLLDASEYECEVEKHGRGQVLFDLVCEHLNLLEKDYFGLTFCDADSQKNWLDPSKEIKKQIRSSPWNFAFTVKFYPPDPAQLTEDITRYYLCLQLRADIITGRLPCSFVTHALLGSYAVQAELGDHDTEEHVGNYVSELRFAPNQTRELEERIMELHKTYRGMTPGEAEIHFLENAKKLSMYGVDLHHAKDSEGIDIMLGVCANGLLIYRDRLRINRFAWPKILKISYKRSNFYIKIRPGEYEQFESTIGFKLPNHRSAKRLWKVCIEHHTFFRLVSPEPPPKGFLVMGSKFRYSGRTQAQTRQASALIDRPAPFFERSSSKRYTMSRSLDGAEFSRPASVSENHDAGPDGDKREDDAESGGRRSEAEEGEVRTPTKIKELKPEQETTPRHKQEFLDKPEDVLLKHQASINELKRTLKEPNSKLIHRDRDWERERRLPSSPASPSPKGTPEKASERAGLREGSEEKVKPPRPRAPESDTGDEDQDQERDAVFLKDNHLAIERKCSSITVSSTSSLEAEVDFTVIGDYHGGAFEDFSRSLPELDRDKSDSETEGLVFARDLKGPSSQEDESGGIEDSPDRGACSTPELPQFESVKAETMTVSSLAIRKKIEPEAMLQSRVSTADSTQVDGGAPAAKDFMTTPPCITTETISTTMENSLKSGKGAAAMIPGPQTVATEIRSLSPIIGKDVLTSTYGATAETLSTSTTTHVTKTVKGGFSETRIEKRIIITGDEDVDQDQALALAIKEAKLQHPDMLVTKAVVYRETDPSPEERDKKPQES 3B987785C6D93910 epb41l1-gria1-1 1 6 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection Q9WTP0:p.Pro852Ser mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain P S corresponds to human EPB41L1 P854S variant associated with MRD11 (MIM:614257) Wed May 02 16:05:41 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro852ser' Tue Jun 30 18:10:55 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro852Ser' 5 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 physical association physical association 3A cacng2-gria1-1 2 3 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 Q71RJ2:p.Val143Leu mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain V L corresponds to human CACNG2 V143L variant associated with MRD10 [MIM:614256] Wed May 02 19:22:45 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'val143leu' Tue Jun 30 19:01:06 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Val143Leu' 5 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection region gfp tag green fluorescent protein tag GFP green fluorescent protein GFP green fluorescent protein gfp tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined physical association physical association 4A cacng2-gria2-1 2 3 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection Q71RJ2:p.Val143Leu mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain V L corresponds to human CACNG2 V143L variant associated with MRD10 [MIM:614256] Wed May 02 14:48:44 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'val143leu' Tue Jun 30 16:05:13 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Val143Leu' region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 4 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection region gfp tag green fluorescent protein tag GFP green fluorescent protein GFP green fluorescent protein gfp tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined physical association physical association 4A